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Disease on EC 7.6.2.1 - P-type phospholipid transporter

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
abc-type xenobiotic transporter deficiency
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
Acute Lung Injury
Oxidative stress induces club cell proliferation and pulmonary fibrosis in Atp8b1 mutant mice.
Adenocarcinoma
Genomic array and expression analysis of frequent high-level amplifications in adenocarcinomas of the gastro-esophageal junction.
Identification of Phospholipid Scramblase 1 as a biomarker and it's prognostic value for Colorectal Cancer.
Photosensitizing effects of hematoporphyrin derivative and photofrin II on the plasma membrane enzymes 5'-nucleotidase, Na+K+-ATPase, and Mg2+-ATPase in R3230AC mammary adenocarcinomas.
Adenocarcinoma of Lung
Aberrant Methylation and Differential Expression of SLC2A1, TNS4, GAPDH, ATP8A2, and CASZ1 Are Associated with the Prognosis of Lung Adenocarcinoma.
Individualized analysis reveals CpG sites with methylation aberrations in almost all lung adenocarcinoma tissues.
Adenoma
The PPAR{gamma} Pro12Ala polymorphism and risk for incident sporadic colorectal adenomas.
Agranulocytosis
Adiposity, dyslipidemia, and insulin resistance in mice with targeted deletion of phospholipid scramblase 3 (PLSCR3).
Alagille Syndrome
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
Albuminuria
Association between Pro12Ala polymorphism and albuminuria in type 2 diabetic nephropathy.
Loss of phosphatidylserine flippase ?-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis.
PPAR{gamma}2 P12A polymorphism and albuminuria in patients with type 2 diabetes: a meta-analysis of case-control studies.
Anaphylaxis
Phospholipid scramblase 1 amplifies anaphylactic reactions in vivo.
Anemia
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.
Comparison of mechanisms of anemia in mice with sickle cell disease and beta-thalassemia: peripheral destruction, ineffective erythropoiesis, and phospholipid scramblase-mediated phosphatidylserine exposure.
Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells.
Induction of eryptosis by cyclosporine.
Mice deficient in the putative phospholipid flippase ATP11C exhibit altered erythrocyte shape, anemia, and reduced erythrocyte life span.
Ribavirin-induced externalization of phosphatidylserine in erythrocytes is predominantly caused by inhibition of aminophospholipid translocase activity.
The cytoplasmic C-terminal region of the ATP11C variant determines its localization at the polarized plasma membrane.
Anemia, Hemolytic, Congenital
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.
ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.
Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells.
Anemia, Sickle Cell
Comparison of mechanisms of anemia in mice with sickle cell disease and beta-thalassemia: peripheral destruction, ineffective erythropoiesis, and phospholipid scramblase-mediated phosphatidylserine exposure.
Erythrocyte ion channels in regulation of apoptosis.
Sulphydryl modifications alter scramblase activity in murine sickle cell disease.
Transmembrane mobility of phospholipids in sickle erythrocytes: effect of deoxygenation on diffusion and asymmetry.
Angelman Syndrome
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.
Antiphospholipid Syndrome
Phospholipid scramblase 1 expression is enhanced in patients with antiphospholipid syndrome.
Arthritis
Neutrophil-derived microvesicles enter cartilage and protect the joint in inflammatory arthritis.
Astrocytoma
Phosphatase activities in human glioma cells as revealed by light and electron microscopy--a preliminary study.
Ataxia
ATP8A2-related disorders as recessive cerebellar ataxia.
Congenital ataxia due to novel variant in ATP8A2.
Atherosclerosis
Yeast and human P4-ATPases transport glycosphingolipids using conserved structural motifs.
Atrial Fibrillation
Large-scale whole-genome sequencing of the Icelandic population.
Atrial Flutter
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Autoimmune Diseases
Glycoprotein Pathways Altered in Frontotemporal Dementia With Autoimmune Disease.
Lupus-like autoimmune disease caused by a lack of Xkr8, a caspase-dependent phospholipid scramblase.
beta-Thalassemia
Comparison of mechanisms of anemia in mice with sickle cell disease and beta-thalassemia: peripheral destruction, ineffective erythropoiesis, and phospholipid scramblase-mediated phosphatidylserine exposure.
Biliary Atresia
Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates.
Brain Diseases
ATP8A2-related disorders as recessive cerebellar ataxia.
Blood ammonia levels and hepatic encephalopathy induced by CCl4 in rats.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Brain Edema
Enzyme histochemistry of rat interfascicular oligodendroglia, with special reference to 5'-nucleotidase.
Brain Ischemia
Association of protein kinase C delta and phospholipid scramblase 3 in hippocampal mitochondria correlates with neuronal vulnerability to brain ischemia.
Spatial resolution of phospholipid scramblase 1 (PLSCR1), caspase-3 activation and DNA-fragmentation in the human hippocampus after cerebral ischemia.
Breast Neoplasms
Characterization of a selective CaMKII peptide inhibitor.
Curcumin reverses doxorubicin resistance via inhibition the efflux function of ABCB4 in doxorubicin?resistant breast cancer cells.
Genetic and small molecule inhibition of arylamine N-acetyltransferase 1 reduces anchorage-independent growth in human breast cancer cell line MDA-MB-231.
Nuclear translocation of PLSCR1 activates STAT1 signaling in basal-like breast cancer.
Overexpression of ABCB4 contributes to acquired doxorubicin resistance in breast cancer cells in vitro.
Carcinogenesis
Blockade of phospholipid scramblase 1 with its N-terminal domain antibody reduces tumorigenesis of colorectal carcinomas in vitro and in vivo.
L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis.
Nuclear translocation of PLSCR1 activates STAT1 signaling in basal-like breast cancer.
The role of ATP8A1 in non-small cell lung cancer.
Carcinoid Tumor
Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico.
Carcinoma
CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells.
Cyst fluid of ovarian cancer patients contains high concentrations of trypsinogen-2.
Gene expression of membrane transporters: Importance for prognosis and progression of ovarian carcinoma.
Human trypsinogens in the pancreas and in cancer.
MMP-9 activation by tumor trypsin-2 enhances in vivo invasion of human tongue carcinoma cells.
Phospholipid Scramblase 1 Interacts with Midkine and Regulates Hepatic Cancer Cell Proliferation and Migration.
Suppression of ovarian carcinoma cell growth in vivo by the interferon-inducible plasma membrane protein, phospholipid scramblase 1.
The anti-tumor alkylphospholipid perifosine is internalized by an ATP-dependent translocase activity across the plasma membrane of human KB carcinoma cells.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Carcinoma, Hepatocellular
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
Activation of the nuclear receptor FXR enhances hepatocyte chemoprotection and liver tumor chemoresistance against genotoxic compounds.
Cathepsin B mediated scramblase activation triggers cytotoxicity and cell cycle arrest by andrographolide to overcome cellular resistance in cisplatin resistant human hepatocellular carcinoma HepG2 cells.
Chromosomal assignment and trans regulation of the tyrosine aminotransferase structural gene in hepatoma hybrid cells.
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
Isolation and characterization of the plasma membranes from rat ascites hepatomas and from normal rat livers, including newborn, regenerating, and adult livers.
Phospholipid scramblase 1 mediates hepatitis C virus entry into host cells.
The P4-ATPase ATP9A is a novel determinant of exosome release.
Carcinoma, Non-Small-Cell Lung
MiR-140-3p suppressed cell growth and invasion by downregulating the expression of ATP8A1 in non-small cell lung cancer.
The role of ATP8A1 in non-small cell lung cancer.
Carcinoma, Squamous Cell
MMP-9 activation by tumor trypsin-2 enhances in vivo invasion of human tongue carcinoma cells.
Cardiomegaly
The lncRNA Plscr4 Controls Cardiac Hypertrophy by Regulating miR-214.
Cardiovascular Diseases
The PPAR-{gamma} Pro12Ala polymorphism associates with weight gain during GH-treatment in short children born small for gestational age.
Cerebellar Ataxia
ATP8A2-related disorders as recessive cerebellar ataxia.
Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2.
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
Cerebral Palsy
Chorea in children: etiology, diagnostic approach and management.
Chemical and Drug Induced Liver Injury
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations.
ABCB4 / MDR3 in health and disease - at the crossroads of biochemistry and medicine.
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity.
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Cholangiocarcinoma
A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.
Cholangitis
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
Bezafibrate stimulates canalicular localization of NBD-labeled PC in HepG2 cells by PPARalpha-mediated redistribution of ABCB4.
Multiple inflammatory-, tissue remodelling- and fibrosis genes are differentially transcribed in the livers of Abcb4 (-/ - ) mice harbouring chronic cholangitis.
Cholangitis, Sclerosing
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
ABCB4 gene mutations and primary sclerosing cholangitis.
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Effects of blocking chemokine receptor CCR1 with BX471 in two models of fibrosis prevention and rescue in mice.
Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver Diseases.
Gene expression profiles reflect sclerosing cholangitis activity in abcb4 (-/ -) mice.
New insights into autoimmune cholangitis through animal models.
TLR4 Deficiency Protects against Hepatic Fibrosis and Diethylnitrosamine-Induced Pre-Carcinogenic Liver Injury in Fibrotic Liver.
Choledocholithiasis
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations.
Cholelithiasis
A complex case of low-phospholipid-associated cholelithiasis syndrome.
A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.
A letter on ABCB4 from Iceland: On the highway to liver disease.
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
ABCB4 / MDR3 in health and disease - at the crossroads of biochemistry and medicine.
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
ABCB4 disease: Many faces of one gene deficiency.
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
ABCB4 gene mutation-associated cholelithiasis in adults.
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
ABCB4 sequence variations in young adults with cholesterol gallstone disease.
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation.
An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs.
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.
Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation.
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).
Genetics of gallstone disease revisited: updated inventory of human lithogenic genes.
Genetics of gallstone disease.
Heap of stones: an unusual cause for biliary colic and elevated liver function tests.
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
LPAC syndrome associated with deletion of the full exon 4 in a ABCB4 genetic mutation in a patient with hepatitis C.
Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.
Pathogenesis of cholesterol and pigment gallstones: An update.
Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis.
Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Role of common canalicular transporter gene variations in aetiology of idiopathic gallstones in childhood.
Should patients with symptomatic cholelithiasis before 30 years of age be tested for ABCB4 gene mutations?
Spontaneous cholecysto- and hepatolithiasis in Mdr2-/- mice: a model for low phospholipid-associated cholelithiasis.
The Multiple Facets of ABCB4 (MDR3) Deficiency.
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Variations of ABCB4 and ABCB11 genes are associated with primary intrahepatic stones.
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]
[Right upper quadrant abdominal pain and fever.]
Cholera
Structure of MsbA from Vibrio cholera: a multidrug resistance ABC transporter homolog in a closed conformation.
Cholestasis
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations.
A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells.
A letter on ABCB4 from Iceland: On the highway to liver disease.
A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant.
ABCB4 disease: Many faces of one gene deficiency.
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content.
Adult onset of genetic disorders in bile acid transport in the liver.
Altered expression and function of canalicular transporters during early development of cholestatic liver injury in Abcb4 deficient mice.
Analysis of gene mutations in children with cholestasis of undefined etiology.
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes.
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained.
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor.
ATP8B1 is essential for maintaining normal hearing.
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
Bezafibrate stimulates canalicular localization of NBD-labeled PC in HepG2 cells by PPARalpha-mediated redistribution of ABCB4.
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Cholangiopathy aggravation is caused by VDR ablation and alleviated by VDR-independent vitamin D signaling in ABCB4 knockout mice.
Cholestasis impairs hepatic lipid storage via AMPK and CREB signaling in hepatitis B virus surface protein transgenic mice.
Clinical profile and screening of exon 6 and 14 of ABCB4 gene in obstetric cholestasis patients at a tertiary care hospital in Rawalpindi, Pakistan.
Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.
Common ABCB4 and ABCB11 genotypes are associated with idiopathic chronic cholestasis in adults.
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Diagnosis and therapy of intrahepatic cholestasis of pregnancy.
Efficacy of bezafibrate for chronic GVHD of the liver after allogeneic hematopoietic stem cell transplantation.
Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver Diseases.
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.
Hepatic Tmem30a deficiency causes intrahepatic cholestasis by impairing expression and localization of bile salt transporters.
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Hypothyroidism Associated with ATP8B1 Deficiency.
IL-13 as Target to Reduce Cholestasis and Dysbiosis in Abcb4 Knockout Mice.
Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis.
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: clinical, histological, and ultrastructural characterization.
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Modification of Ca2+, Mg2+-ATPase and F-actin distribution in hepatocytes of cyclosporine A treated rats. Effect of soyabean lecithin and triacylglycerol.
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.
Pharmacologic Activation of Hepatic Farnesoid X Receptor Prevents Parenteral Nutrition Associated Cholestasis in Mice.
Prenatal molecular diagnosis of inherited cholestatic diseases.
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.
Progressive familial intrahepatic cholestasis type 1.
Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
Redistribution of Ca2+, Mg2+-ATPase activity in relation to alterations of the cytoskeleton and tight junctions in hepatocytes of cholestatic rat liver.
Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.
Reduced spontaneous itch in mouse models of cholestasis.
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
Severe hepatocellular dysfunction in obstetric cholestasis related to combined genetic variation in hepatobiliary transporters.
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation.
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
The genetics of complex cholestatic disorders.
The involvement of altered vesicle transport in redistribution of Ca2+, Mg2+-ATPase in cholestatic rat liver.
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Variations of ABCB4 and ABCB11 genes are associated with primary intrahepatic stones.
Whole-genome sequencing reveals large ATP8B1 deletion / duplications as "second mutations" missed by exome-based sequencing.
X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C.
Yeast and human P4-ATPases transport glycosphingolipids using conserved structural motifs.
[Childhood cholestasis and bile transporters]
[Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I].
[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]
Cholestasis, Intrahepatic
A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1.
A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells.
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
A letter on ABCB4 from Iceland: On the highway to liver disease.
A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.
A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter.
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
ABCB4 / MDR3 in health and disease - at the crossroads of biochemistry and medicine.
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.
ABCB4 disease: Many faces of one gene deficiency.
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
ABCB4: Insights from pathobiology into therapy.
Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation.
Adult progressive intrahepatic cholestasis associated with genetic variations in ATP8B1 and ABCB11.
Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs.
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes.
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained.
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor.
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.
Autoimmune BSEP Disease: Disease Recurrence After Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection.
Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch.
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15?years after liver transplantation.
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment.
Chinese Children With Chronic Intrahepatic Cholestasis And High Gamma-Glutamyl Transpeptidase: Clinical Features And Association With ABCB4 Mutations.
Cholestatic liver disease.
Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency.
Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis.
Complementary Functions of the Flippase ATP8B1 and the Floppase ABCB4 in Maintaining Canalicular Membrane Integrity.
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Current and future therapies for inherited cholestatic liver diseases.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Effects of Cellular, Chemical, and Pharmacological Chaperones on the Rescue of a Trafficking-defective Mutant of the ATP-binding Cassette Transporter Proteins ABCB1/ABCB4.
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice.
FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body.
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model.
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Genotype-phenotype relationships in the low-phospholipid associated cholelithiasis syndrome. A study of 156 consecutive patients.
Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis.
Hepatic Tmem30a deficiency causes intrahepatic cholestasis by impairing expression and localization of bile salt transporters.
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy.
Hepatobiliary transport in health and disease.
Impaired Hepatic Uptake by Organic Anion-Transporting Polypeptides Is Associated with Hyperbilirubinemia and Hypercholanemia in Atp11c Mutant Mice.
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis.
Intestinal bile salt absorption in Atp8b1 deficient mice.
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
Liver disease without flipping: new functions of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1.
Molecular basis of intrahepatic cholestasis.
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
Molecular overview of progressive familial intrahepatic cholestasis.
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature.
Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1.
Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report.
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
Novel heterozygous ABCB4 gene mutation causing recurrent first-trimester intrahepatic cholestasis of pregnancy.
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.
Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1.
NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane.
Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma.
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.
Prevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy.
Progressive familial intrahepatic cholestasis type 1.
Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity.
Progressive familial intrahepatic cholestasis.
Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.
Reduced spontaneous itch in mouse models of cholestasis.
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
Resistance to Parathyroid Hormone in Two Patients with Familial Intrahepatic Cholestasis: Possible Involvement of the ATP8B1 Gene in Calcium Regulation via Parathyroid Hormone.
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models.
Successful pregnancy after liver transplantation in progressive familial intrahepatic cholestasis, type 1.
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation.
Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.
The c.504T>C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece.
The etiology of intrahepatic cholestasis of pregnancy: towards solving a monkey puzzle.
The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.
The Multiple Facets of ABCB4 (MDR3) Deficiency.
The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator.
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.
Update on progressive familial intrahepatic cholestasis.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Whole-genome sequencing reveals large ATP8B1 deletion / duplications as "second mutations" missed by exome-based sequencing.
X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C.
[Childhood cholestasis and bile transporters]
[Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I].
[Progressive familial intrahepatic cholestasis type 3].
Chondrosarcoma
Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico.
Chorea
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Choriocarcinoma
Aminophospholipid translocase activity in JEG-3; a choriocarcinoma model of cytotrophoblast differentiation.
Colorectal Neoplasms
Antibody against N-terminal domain of phospholipid scramblase 1 induces apoptosis in colorectal cancer cells through the intrinsic apoptotic pathway.
ATP11A is a novel predictive marker for metachronous metastasis of colorectal cancer.
Blockade of phospholipid scramblase 1 with its N-terminal domain antibody reduces tumorigenesis of colorectal carcinomas in vitro and in vivo.
Identification of ATP8B1 as a Tumor Suppressor Gene for Colorectal Cancer and Its Involvement in Phospholipid Homeostasis.
Identification of Phospholipid Scramblase 1 as a biomarker and it's prognostic value for Colorectal Cancer.
Loss of ABCB4 attenuates the caspase-dependent apoptosis regulating resistance to 5-Fu in colorectal cancer.
Silencing phospholipid scramblase 1 expression by RNA interference in colorectal cancer and metastatic liver cancer.
Communicable Diseases
Scramblase TMEM16F terminates T cell receptor signaling to restrict T cell exhaustion.
Confusion
ABCB4 Disease Presenting with Cirrhosis and Copper Overload-Potential Confusion with Wilson Disease.
COVID-19
Single-Cell Transcriptome Analysis Highlights a Role for Neutrophils and Inflammatory Macrophages in the Pathogenesis of Severe COVID-19.
Cystic Fibrosis
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study.
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Erythrocyte cytosolic free Ca2+ and plasma membrane Ca2+-ATPase activity in cystic fibrosis.
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator.
Cysts
Cyst fluid of ovarian cancer patients contains high concentrations of trypsinogen-2.
Human trypsinogens in the pancreas and in cancer.
Deafness
A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells.
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
Demyelinating Diseases
Localization of adenosine triphosphatase activity of the endothelia in chronic relapsing experimental allergic encephalomyelitis.
Dermatomyositis
Study on the differentially expressed genes and signaling pathways in dermatomyositis using integrated bioinformatics method.
Diabetes Mellitus
Genome-Wide DNA Methylation Profiles of Phlegm-Dampness Constitution.
The Pro12Ala polymorphism of the PPARgamma2 gene is associated with hepatic glucose uptake during hyperinsulinemia in subjects with type 2 diabetes mellitus.
Diabetes Mellitus, Experimental
Na+,K+-ATPase and Mg2+-ATPase activities in different regions of rat brain during alloxan diabetes.
Diabetes Mellitus, Type 2
An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes.
Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to Type 2 diabetes.
Association of the Pro12Ala polymorphism in the PPAR-gamma2 gene with 3-year incidence of type 2 diabetes and body weight change in the Finnish Diabetes Prevention Study.
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
Heterogeneous effect of peroxisome proliferator-activated receptor gamma2 Ala12 variant on type 2 diabetes risk.
Peroxisome proliferator-activated receptor gamma 2 Pro12Ala gene variant is strongly associated with larger body mass in the Taiwanese.
Peroxisome proliferator-activated receptor-gamma2 polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes: The Berlin Diabetes Mellitus (BeDiaM) Study.
PPAR{gamma}2 P12A polymorphism and albuminuria in patients with type 2 diabetes: a meta-analysis of case-control studies.
The in vivo effects of the Pro12Ala PPARgamma2 polymorphism on adipose tissue NEFA metabolism: the first use of the Oxford Biobank.
The Pro12 -->Ala substitution in PPAR-gamma is associated with resistance to development of diabetes in the general population: possible involvement in impairment of insulin secretion in individuals with type 2 diabetes.
The Pro12Ala polymorphism of the PPARgamma2 gene is associated with hepatic glucose uptake during hyperinsulinemia in subjects with type 2 diabetes mellitus.
The role of PPARgamma as a thrifty gene both in mice and humans.
The role of PPARgamma in high-fat diet-induced obesity and insulin resistance.
Diabetic Nephropathies
Peroxisome proliferator-activated receptor-gamma2 polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes: The Berlin Diabetes Mellitus (BeDiaM) Study.
Diabetic Neuropathies
Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies.
Digestive System Diseases
An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs.
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
The Multiple Facets of ABCB4 (MDR3) Deficiency.
Thyroid hormone receptor ?1 stimulates ABCB4 to increase biliary phosphatidylcholine excretion in mice.
Trafficking and transporter disorders in pediatric cholestasis.
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.
[Progressive familial intrahepatic cholestasis type 3].
Dyskinesias
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Dyslipidemias
Adiposity, dyslipidemia, and insulin resistance in mice with targeted deletion of phospholipid scramblase 3 (PLSCR3).
Common Variants of ABCB4 and ABCB11 and Plasma Lipid Levels: A Study in Sib Pairs with Gallstones, and Controls.
The Pro12A1a substitution in the peroxisome proliferator activated receptor gamma 2 is associated with an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia.
Dystocia
X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C.
Dystonia
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Encephalitis
Chorea in children: etiology, diagnostic approach and management.
Endocrine System Diseases
Lack of association of ABCB4 insertion mutation with gallbladder mucoceles in dogs.
Endometrial Neoplasms
Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer.
Epilepsy
Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study.
Fatty Liver
Cholestasis impairs hepatic lipid storage via AMPK and CREB signaling in hepatitis B virus surface protein transgenic mice.
galactokinase deficiency
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity.
The protective effect of L-cysteine and glutathione on the adult and aged rat brain (Na+,K+)-ATPase and Mg2+-ATPase activities in galactosemia in vitro.
Galactosemias
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity.
The protective effect of L-cysteine and glutathione on the adult and aged rat brain (Na+,K+)-ATPase and Mg2+-ATPase activities in galactosemia in vitro.
Gallbladder Diseases
ABCB4 disease: Many faces of one gene deficiency.
Gallbladder Neoplasms
ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans.
Common genetic variation and risk of gallbladder cancer in India: a case-control genome-wide association study.
Genetics of gallstone disease revisited: updated inventory of human lithogenic genes.
Gallstones
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
ABCB4 sequence variations in young adults with cholesterol gallstone disease.
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
An integrated analysis of differential miRNA and mRNA expressions in human gallstones.
Common Variants of ABCB4 and ABCB11 and Plasma Lipid Levels: A Study in Sib Pairs with Gallstones, and Controls.
Future therapeutic targets for the treatment and prevention of cholesterol gallstones.
Genetics of gallstone disease revisited: updated inventory of human lithogenic genes.
Genetics of gallstone disease.
Heap of stones: an unusual cause for biliary colic and elevated liver function tests.
Mice overexpressing hepatic Abcb11 rapidly develop cholesterol gallstones.
Pathogenesis of cholesterol and pigment gallstones: An update.
Targeting the ABCB4 gene to control cholesterol homeostasis.
The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults.
The Multiple Facets of ABCB4 (MDR3) Deficiency.
[Childhood cholestasis and bile transporters]
[Gallstone disease - interdisciplinary treatment].
[Molecular genetics of cholesterol cholelithiasis: identification of human and murine gallstone genes]
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]
Ganglion Cysts
[Effect of Alternanthera philoxeroides on enzymic histochemistry of oncomelania hupensis]
Genetic Diseases, Inborn
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature.
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
Glaucoma, Open-Angle
Gene expression profiles of human trabecular meshwork cells induced by triamcinolone and dexamethasone.
Glioblastoma
Phosphatase activities in human glioma cells as revealed by light and electron microscopy--a preliminary study.
Glioma
Phosphatidylserine-dependent phagocytosis of apoptotic glioma cells by normal human microglia, astrocytes, and glioma cells.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
Erythrocyte ion channels in regulation of apoptosis.
Glucosephosphate Dehydrogenase Deficiency
Erythrocyte ion channels in regulation of apoptosis.
Goiter, Nodular
Aberrant DNA methylation of drug metabolism and transport genes in nodular goiter.
Head and Neck Neoplasms
ABCB4 is frequently epigenetically silenced in human cancers and inhibits tumor growth.
Hearing Loss
Phospholipid flippases: Building asymmetric membranes and transport vesicles.
Progressive familial intrahepatic cholestasis type 1.
Hearing Loss, Sensorineural
[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
Heart Arrest
Spatial resolution of phospholipid scramblase 1 (PLSCR1), caspase-3 activation and DNA-fragmentation in the human hippocampus after cerebral ischemia.
Heart Failure
Comparison of heart sarcolemmal enzyme activities in normal and cardiomyopathic (UM-X7.1) hamsters.
The lncRNA Plscr4 Controls Cardiac Hypertrophy by Regulating miR-214.
Hemorrhagic Fever, Ebola
Role of Transmembrane Protein 16F in the Incorporation of Phosphatidylserine Into Budding Ebola Virus Virions.
Hepatitis
Cushing's disease presenting as cholestatic hepatitis.
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]
Hepatitis B
Inhibition of Hepatitis B virus replication by Phospholipid scramblase 1 in vitro and in vivo.
Interactome map reveals phospholipid scramblase 1 as a novel regulator of hepatitis B virus x protein.
[Effect of PLSCR1 on the Antiviral Activity of IFN against HBV in HepG2 Cells].
Hepatitis B, Chronic
Interactome map reveals phospholipid scramblase 1 as a novel regulator of hepatitis B virus x protein.
Hepatitis C
LPAC syndrome associated with deletion of the full exon 4 in a ABCB4 genetic mutation in a patient with hepatitis C.
Phospholipid scramblase 1 mediates hepatitis C virus entry into host cells.
Hepatitis E
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection.
Hepatoblastoma
Bezafibrate stimulates canalicular localization of NBD-labeled PC in HepG2 cells by PPARalpha-mediated redistribution of ABCB4.
Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064.
Hepatolenticular Degeneration
ABCB4 Disease Presenting with Cirrhosis and Copper Overload-Potential Confusion with Wilson Disease.
Herpes Simplex
Herpes simplex viruses activate phospholipid scramblase to redistribute phosphatidylserines and Akt to the outer leaflet of the plasma membrane and promote viral entry.
Herpes Zoster
A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization.
HIV Infections
Molecular underpinning of intracellular pH regulation on TMEM16F.
Hodgkin Disease
Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma.
Homocystinuria
Inhibition of Na+, K+-ATPase activity by the metabolites accumulating in homocystinuria.
Hyperbilirubinemia, Hereditary
ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes.
Hypercholesterolemia
ABCB4 mediates diet-induced hypercholesterolemia in laboratory opossums.
Hyperkinesis
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Hypersensitivity
An unexpectedly high degree of specialization and a widespread involvement in sterol metabolism among the C. elegans putative aminophospholipid translocases.
Phospholipid scramblase 1 amplifies anaphylactic reactions in vivo.
The haploinsufficiency profile of ?-hederin suggests a caspofungin-like antifungal mode of action.
Hypertension
Association of pro12Ala polymorphism in the peroxisome proliferative-activated receptor gamma2 gene with obesity and hypertension in Korean women.
Homozygosity for the Ala allele of the PPAR?2 Pro12Ala polymorphism is associated with reduced risk of coronary artery disease.
Mitochondrial function in heart and kidney of spontaneously hypertensive rats: influence of captopril treatment.
Pro12Ala polymorphism in PPAR gamma 2 associated with essential hypertension in Chinese nonagenarians/centenarians.
Hypertriglyceridemia
PPARgamma mRNA expression is reduced in peripheral blood mononuclear cells after fat overload in patients with metabolic syndrome.
Pro12Ala Sequence Variant of the PPARG Gene Is Associated with Postprandial Hypertriglyceridemia in Non-E3/E3 Patients with the Metabolic Syndrome.
Hypoglycemia
Reduced Mg2+-ATPase activity in the hypoglycemic adult rat brain.
Hypoparathyroidism
X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
Hypothyroidism
Hypothyroidism Associated with ATP8B1 Deficiency.
Ichthyosis, Lamellar
Lipid transport by mammalian ABC proteins.
Infections
Human phospholipid scramblase 1 interacts with and regulates transactivation of HTLV-1 Tax.
Inhibition of Hepatitis B virus replication by Phospholipid scramblase 1 in vitro and in vivo.
Interaction of the phospholipid scramblase 1 with HIV-1 Tat results in the repression of Tat-dependent transcription.
Interactome map reveals phospholipid scramblase 1 as a novel regulator of hepatitis B virus x protein.
Membrane Potential Is Required for MurJ Function.
The phospholipid scramblases 1 and 4 are cellular receptors for the secretory leukocyte protease inhibitor and interact with CD4 at the plasma membrane.
Transcriptional activation of interferon-stimulated genes but not of cytokine genes after primary infection of rhesus macaques with dengue virus type 1.
Treatment failure and miltefosine susceptibility in dermal leishmaniasis caused by Leishmania subgenus Viannia species.
Use of Synthetic Hybrid Strains To Determine the Role of Replicon 3 in Virulence of the Burkholderia cepacia Complex.
Influenza, Human
Bidirectional genome-wide CRISPR screens reveal host factors regulating SARS-CoV-2, MERS-CoV and seasonal coronaviruses.
Bidirectional genome-wide CRISPR screens reveal host factors regulating SARS-CoV-2, MERS-CoV and seasonal HCoVs.
Phospholipid scramblase 1 interacts with influenza A virus NP, impairing its nuclear import and thereby suppressing virus replication.
Time-Resolved Systems Medicine Reveals Viral Infection-Modulating Host Targets.
Insulin Resistance
Adiposity, dyslipidemia, and insulin resistance in mice with targeted deletion of phospholipid scramblase 3 (PLSCR3).
Advances in Exercise, Fitness, and Performance Genomics in 2015.
Association between Pro12Ala polymorphism of the PPAR-gamma2 gene and insulin sensitivity in Brazilian patients with type-2 diabetes mellitus.
Association of the Pro12Ala polymorphism in the PPAR-gamma2 gene with 3-year incidence of type 2 diabetes and body weight change in the Finnish Diabetes Prevention Study.
Effect of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma-2 gene on adiposity, insulin sensitivity and lipid profile in the Spanish population.
Effect of the Pro12Ala variant of the human peroxisome proliferator-activated receptor gamma 2 gene on adiposity, fat distribution, and insulin sensitivity in Japanese men.
Genome-Wide DNA Methylation Profiles of Phlegm-Dampness Constitution.
Inverse effects of the PPAR(gamma)2 Pro12Ala polymorphism on measures of adiposity over 15 years in African Americans and whites. The CARDIA study.
Lipidomic and metabolic changes in the P4-type ATPase ATP10D deficient C57BL/6J wild type mice upon rescue of ATP10D function.
Maternal Intake of n-3 Polyunsaturated Fatty Acids During Pregnancy Is Associated With Differential Methylation Profiles in Cord Blood White Cells.
P4 ATPases - Lipid flippases and their role in disease.
PPAR(gamma)2 gene Pro12Ala polymorphism may influence serum level of an adipocyte-derived protein, adiponectin, in the Japanese population.
PPAR-gamma2 Pro12Ala polymorphism in the population of obese and non-obese men of the city of Wroclaw.
Pro12Ala substitution in peroxisome proliferator-activated receptor gamma 2 is associated with low adiponectin concentrations in young Japanese men.
The in vivo effects of the Pro12Ala PPARgamma2 polymorphism on adipose tissue NEFA metabolism: the first use of the Oxford Biobank.
The peroxisome proliferator-activated receptor-gamma2 gene polymorphism (Pro12Ala) beneficially influences insulin resistance and its tracking from childhood to adulthood: the Bogalusa Heart Study.
The Pro12A1a substitution in the peroxisome proliferator activated receptor gamma 2 is associated with an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia.
The Pro12Ala polymorphism of the PPARgamma2 gene is associated with hepatic glucose uptake during hyperinsulinemia in subjects with type 2 diabetes mellitus.
Intellectual Disability
Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2.
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival.
Leishmaniasis
In vitro and in vivo miltefosine susceptibility of a Leishmania amazonensis isolate from a patient with diffuse cutaneous leishmaniasis.
Leishmaniasis, Visceral
Impaired development of a miltefosine-resistant Leishmania infantum strain in the sand fly vectors Phlebotomus perniciosus and Lutzomyia longipalpis.
Leukemia
Antileukemic roles of human phospholipid scramblase 1 gene, evidence from inducible PLSCR1-expressing leukemic cells.
Apoptosis and interferons: role of interferon-stimulated genes as mediators of apoptosis.
Engagement of Phospholipid Scramblase 1 in Activated Cells: IMPLICATION FOR PHOSPHATIDYLSERINE EXTERNALIZATION AND EXOCYTOSIS.
Identity of human normal counterpart (MmTRA1b) of mouse leukemogenesis-associated gene (MmTRA1a) product as plasma membrane phospholipid scramblase and chromosome mapping of the human MmTRA1b/phospholipid scramblase gene.
III-10, a newly synthesized flavonoid, induced differentiation of human U937 leukemia cells via PKC? activation.
Oxidation of phosphatidylserine: a mechanism for plasma membrane phospholipid scrambling during apoptosis?
p53 controls the switch between autophagy and apoptosis through regulation of PLSCR1 in sodium selenite-treated leukemia cells.
Phospholipid scramblase 1.
Wogonin induces the granulocytic differentiation of human NB4 promyelocytic leukemia cells and up-regulates phospholipid scramblase 1 gene expression.
[Significance of PLSCR1 in Matrine Induced Differentiation of ATRA Resistant APL Cells].
Leukemia, Myeloid
MmTRA1b/phospholipid scramblase 1 gene expression is a new prognostic factor for acute myelogenous leukemia.
Leukemia, Myeloid, Acute
Maesopsin 4-O-beta-D-glucoside, a natural compound isolated from the leaves of Artocarpus tonkinensis, inhibits proliferation and up-regulates HMOX1, SRXN1 and BCAS3 in acute myeloid leukemia.
MmTRA1b/phospholipid scramblase 1 gene expression is a new prognostic factor for acute myelogenous leukemia.
PLSCR1/IP3R1/Ca(2+) axis contributes to differentiation of primary AML cells induced by wogonoside.
Leukemia, Promyelocytic, Acute
[Significance of PLSCR1 in Matrine Induced Differentiation of ATRA Resistant APL Cells].
Leukemia, T-Cell
Human phospholipid scramblase 1 interacts with and regulates transactivation of HTLV-1 Tax.
Maesopsin 4-O-beta-D-glucoside, a natural compound isolated from the leaves of Artocarpus tonkinensis, inhibits proliferation and up-regulates HMOX1, SRXN1 and BCAS3 in acute myeloid leukemia.
Liver Cirrhosis
A letter on ABCB4 from Iceland: On the highway to liver disease.
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Effects of blocking chemokine receptor CCR1 with BX471 in two models of fibrosis prevention and rescue in mice.
Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.
TLR4 Deficiency Protects against Hepatic Fibrosis and Diethylnitrosamine-Induced Pre-Carcinogenic Liver Injury in Fibrotic Liver.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Vitamin D modulates biliary fibrosis in ABCB4-deficient mice.
Liver Cirrhosis, Biliary
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation.
An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs.
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Changes in the expression and localization of hepatocellular transporters and radixin in primary biliary cirrhosis.
Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.
Liver Diseases
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among related species.
A Heterozygous ABCB4, RUNDC3B, and ABCB1 Deletion Associated With Severe Cholestatic Liver Disease in Adulthood.
A letter on ABCB4 from Iceland: On the highway to liver disease.
A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.
ABCB4 disease: Many faces of one gene deficiency.
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice.
Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content.
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.
Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.
Current and future therapies for inherited cholestatic liver diseases.
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.
Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver Diseases.
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.
Genetic determinants of cholangiopathies: Molecular and systems genetics.
Genetics of gallstone disease revisited: updated inventory of human lithogenic genes.
Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis.
Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates.
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
Large-scale whole-genome sequencing of the Icelandic population.
Linking phospholipid flippases to vesicle-mediated protein transport.
Lipid flopping in the liver.
Liver disease associated with canalicular transport defects: current and future therapies.
Liver disease without flipping: new functions of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1.
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
P4 ATPases - Lipid flippases and their role in disease.
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane.
Phospholipid flippases: Building asymmetric membranes and transport vesicles.
Possible Phenylacetate Hepatotoxicity During 4-Phenylbutyrate Therapy of Byler Disease.
Prevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy.
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Small animal models of hepatocyte transplantation.
Strain background modifies phenotypes in the ATP8B1-deficient mouse.
Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.
The ABCB4 p.T175A variant as potential modulator of hepatic fibrosis in patients with chronic liver diseases: Looking beyond the cholestatic realm.
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Liver Failure
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4 ATPases.
Liver Neoplasms
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
Phospholipid Scramblase 1 Interacts with Midkine and Regulates Hepatic Cancer Cell Proliferation and Migration.
RNA interference-mediated downregulation of phospholipid scramblase 1 expression in primary liver cancer in vitro.
Silencing phospholipid scramblase 1 expression by RNA interference in colorectal cancer and metastatic liver cancer.
Lung Diseases
DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study.
Global gene profiling of aging lungs in Atp8b1 mutant mice.
Lung Injury
Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.
Effect and mechanism of phospholipid scramblase 4 (PLSCR4) on lipopolysaccharide (LPS)-induced injury to human pulmonary microvascular endothelial cells.
Lung Neoplasms
ABCB4 is frequently epigenetically silenced in human cancers and inhibits tumor growth.
Long non-coding RNA LINC00641 suppresses non-small-cell lung cancer by sponging miR-424-5p to upregulate PLSCR4.
MiR-140-3p suppressed cell growth and invasion by downregulating the expression of ATP8A1 in non-small cell lung cancer.
The role of ATP8A1 in non-small cell lung cancer.
[Ca2+, Mg2+-ATPase activity of the erythrocyte membrane in patients with lung cancer]
Lupus Erythematosus, Systemic
Increased expression of phospholipid scramblase 1 in monocytes from patients with systemic lupus erythematosus.
Lymphatic Metastasis
The role of ATP8A1 in non-small cell lung cancer.
Lymphoma
No radiosensitivity-related change in plasma membrane properties in X- or gamma-irradiated L5178Y-R and L5178Y-S cells.
Oxidation of phosphatidylserine: a mechanism for plasma membrane phospholipid scrambling during apoptosis?
Phospholipid flippases enable precursor B cells to flee engulfment by macrophages.
Phospholipid scramblase 1 as a critical node at the crossroad between autophagy and apoptosis in mantle cell lymphoma.
Lymphoma, Follicular
Establishment and comprehensive analysis of a new human transformed follicular lymphoma B cell line, Tat-1.
Lymphoma, Mantle-Cell
Phospholipid scramblase 1 as a critical node at the crossroad between autophagy and apoptosis in mantle cell lymphoma.
Malaria
A malaria parasite phospholipid flippase safeguards midgut traversal of ookinetes for mosquito transmission.
ATP2, The essential P4-ATPase of malaria parasites, catalyzes lipid-stimulated ATP hydrolysis in complex with a Cdc50 ?-subunit.
Identification and characterisation of a phospholipid scramblase in the malaria parasite Plasmodium falciparum.
Plasmodium falciparum Guanylyl Cyclase-Alpha and the Activity of Its Appended P4-ATPase Domain Are Essential for cGMP Synthesis and Blood-Stage Egress.
Melanoma
Characterization of Mg2+-ATPase activity in isolated B16 murine melanoma melanosomes.
Comprehensive molecular profiling of UV-induced metastatic melanoma in Nme1/Nme2-deficient mice reveals novel markers of survival in human patients.
Mapping ATP-binding cassette transporter gene expression profiles in melanocytes and melanoma cells.
Tumor suppressor and growth regulatory genes are overexpressed in severe early-onset preeclampsia--an array study on case-specific human preeclamptic placental tissue.
Meningioma
Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico.
Metabolic Diseases
Genome-wide Transcriptional Sequencing Identifies Novel Mutations in Metabolic Genes in Human Hepatocellular Carcinoma.
Metabolic Syndrome
Mobilization of pro-inflammatory lipids in obese Plscr3-deficient mice.
PPARgamma mRNA expression is reduced in peripheral blood mononuclear cells after fat overload in patients with metabolic syndrome.
Microcephaly
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Mononeuropathies
Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies.
Movement Disorders
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Mucocele
An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs.
Lack of association of ABCB4 insertion mutation with gallbladder mucoceles in dogs.
Multiple Myeloma
Translocation t(11;14) (q13;q32) and genomic imbalances in multi-ethnic multiple myeloma patients: a Malaysian study.
Muscle Hypotonia
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Muscular Diseases
Conformational behavior of polyalanine peptides with and without protecting groups of varying chain lengths: population of PP-II structure!
Muscular Dystrophies
[Na+ + K+] Mg2+-ATPase of muscle plasma membranes in Duchenne muscular dystrophy.
Muscular Dystrophy, Duchenne
[Na+ + K+] Mg2+-ATPase of muscle plasma membranes in Duchenne muscular dystrophy.
Muscular Dystrophy, Oculopharyngeal
Conformational behavior of polyalanine peptides with and without protecting groups of varying chain lengths: population of PP-II structure!
Myocardial Infarction
A gene variant in the Atp10d gene associates with atherosclerotic indices in Japanese elderly population.
Ala12 variant of the peroxisome proliferator-activated receptor-gamma gene (PPARG) is associated with higher polyunsaturated fat in adipose tissue and attenuates the protective effect of polyunsaturated fat intake on the risk of myocardial infarction.
Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study.
Yeast and human P4-ATPases transport glycosphingolipids using conserved structural motifs.
Nasopharyngeal Carcinoma
Interaction of phospholipid scramblase 1 with the Epstein-Barr virus protein BZLF1 represses BZLF1-mediated lytic gene transcription.
Neoplasm Metastasis
ATP11A is a novel predictive marker for metachronous metastasis of colorectal cancer.
Nuclear translocation of PLSCR1 activates STAT1 signaling in basal-like breast cancer.
Phospholipid Scramblase 1 Interacts with Midkine and Regulates Hepatic Cancer Cell Proliferation and Migration.
The role of ATP8A1 in non-small cell lung cancer.
Neoplasms
A common polymorphism in the mineralocorticoid receptor modulates stress responsiveness.
A genetic strategy involving a glycosyltransferase promoter and a lipid translocating enzyme to eliminate cancer cells.
A letter on ABCB4 from Iceland: On the highway to liver disease.
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
ABCB4 is frequently epigenetically silenced in human cancers and inhibits tumor growth.
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
Activation of the HIV-1 LTR by T cell mitogens and the trans-activator protein of HTLV-I.
ATP11B mediates platinum resistance in ovarian cancer.
Aureobasidins: structure-activity relationships for the inhibition of the human MDR1 P-glycoprotein ABC-transporter.
Biliary Phospholipids Sustain Enterocyte Proliferation and Intestinal Tumor Progression via Nuclear Receptor Lrh1 in mice.
Biomarker development, from bench to bedside.
Cyclosporins: structure-activity relationships for the inhibition of the human MDR1 P-glycoprotein ABC transporter.
Cyst fluid of ovarian cancer patients contains high concentrations of trypsinogen-2.
Differences in Transcript Levels of ABC Transporters Between Pancreatic Adenocarcinoma and Nonneoplastic Tissues.
Endosomal phosphatidylserine is critical for the YAP signalling pathway in proliferating cells.
Establishment and comprehensive analysis of a new human transformed follicular lymphoma B cell line, Tat-1.
Hepatobiliary transporter expression in human hepatocellular carcinoma.
Human colon carcinoma, fibrosarcoma and leukemia cell lines produce tumor-associated trypsinogen.
Human trypsinogens in the pancreas and in cancer.
Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico.
Identification of alternative splicing events regulated by the oncogenic factor SRSF1 in lung cancer.
Identification of ATP8B1 as a Tumor Suppressor Gene for Colorectal Cancer and Its Involvement in Phospholipid Homeostasis.
Identification of Phospholipid Scramblase 1 as a biomarker and it's prognostic value for Colorectal Cancer.
Induction of PLSCR1 in a STING/IRF3-Dependent Manner upon Vector Transfection in Ovarian Epithelial Cells.
Interactions between HIV-1 Tat and KSHV.
L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis.
Loss of ABCB4 attenuates the caspase-dependent apoptosis regulating resistance to 5-Fu in colorectal cancer.
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Mitophagy Induced by Mitochondrial Function Damage in Chicken Kidney Exposed to Cr(VI).
MMP-9 activation by tumor trypsin-2 enhances in vivo invasion of human tongue carcinoma cells.
Multidrug resistance gene expression and ABCB1 SNPs in plasma cell myeloma.
Not only P-glycoprotein: Amplification of the ABCB1-containing chromosome region 7q21 confers multidrug resistance upon cancer cells by coordinated overexpression of an assortment of resistance-related proteins.
Nuclear interactions of topoisomerase II alpha and beta with phospholipid scramblase 1.
Nuclear translocation of PLSCR1 activates STAT1 signaling in basal-like breast cancer.
Phosphatidylserine: A cancer cell targeting biomarker.
Phospholipid scramblase 1.
Photosensitizing effects of hematoporphyrin derivative and photofrin II on the plasma membrane enzymes 5'-nucleotidase, Na+K+-ATPase, and Mg2+-ATPase in R3230AC mammary adenocarcinomas.
RNA interference-mediated downregulation of phospholipid scramblase 1 expression in primary liver cancer in vitro.
Role of Phospholipid Scramblase 3 in the Regulation of Tumor Necrosis Factor-alpha-Induced Apoptosis.
Senescent Stromal Cells Promote Cancer Resistance through SIRT1 Loss-Potentiated Overproduction of Small Extracellular Vesicles.
Silencing phospholipid scramblase 1 expression by RNA interference in colorectal cancer and metastatic liver cancer.
Snail interacts with hPLSCR1 promoter and down regulates its expression in IMR-32.
Sorcin, a calcium binding protein involved in the multidrug resistance mechanisms in cancer cells.
Suppression of ovarian carcinoma cell growth in vivo by the interferon-inducible plasma membrane protein, phospholipid scramblase 1.
The potent immunosuppressive cyclosporin FR901459 inhibits the human P-glycoprotein and formyl peptide receptor functions.
TLR4 Deficiency Protects against Hepatic Fibrosis and Diethylnitrosamine-Induced Pre-Carcinogenic Liver Injury in Fibrotic Liver.
Transcriptional control of the human plasma membrane phospholipid scramblase 1 gene is mediated by interferon-alpha.
Tumor-associated trypsin participates in cancer cell-mediated degradation of extracellular matrix.
Tumour-associated trypsin inhibitor and tumour-associated trypsin.
Two c-Myc binding sites are crucial in upregulating the expression of human phospholipid scramblase 1 gene.
Valspodar: current status and perspectives.
Variation in human cancer cell external phosphatidylserine is regulated by flippase activity and intracellular calcium.
Verotoxin-1 treatment or manipulation of its receptor globotriaosylceramide (gb3) for reversal of multidrug resistance to cancer chemotherapy.
Nervous System Diseases
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Neuralgia
TMEM16F Regulates Spinal Microglial Function in Neuropathic Pain States.
Neuroblastoma
Identification of phospholipid scramblase 1 as a novel interacting molecule with beta -secretase (beta -site amyloid precursor protein (APP) cleaving enzyme (BACE)).
Neurodegenerative Diseases
C-terminus of the P4-ATPase ATP8A2 functions in protein folding and regulation of phospholipid flippase activity.
Mutations in a p-type ATPase gene cause axonal degeneration.
Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.
Obesity
Amerindians show no association of PPAR-?2 gene Ala12 allele and obesity: an "unthrifty" variant population genetics.
Association of PPARG2 Pro12Ala variant with larger body mass index in Mestizo and Amerindian populations of Mexico.
Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.
Genome-scale network analysis of imprinted human metabolic genes.
Genome-Wide DNA Methylation Profiles of Phlegm-Dampness Constitution.
Genome-wide Transcriptional Sequencing Identifies Novel Mutations in Metabolic Genes in Human Hepatocellular Carcinoma.
Lifestyle factors modify obesity risk linked to PPARG2 and FTO variants in an elderly population: a cross-sectional analysis in the SUN Project.
Lipidomic and metabolic changes in the P4-type ATPase ATP10D deficient C57BL/6J wild type mice upon rescue of ATP10D function.
P4 ATPases - Lipid flippases and their role in disease.
Phospholipid flippases: Building asymmetric membranes and transport vesicles.
PPAR-gamma2 Pro12Ala polymorphism in the population of obese and non-obese men of the city of Wroclaw.
The effect of the Ala12 allele of the peroxisome proliferator-activated receptor-gamma2 gene on skeletal muscle glucose uptake depends on obesity: a positron emission tomography study.
Yeast and human P4-ATPases transport glycosphingolipids using conserved structural motifs.
[Gallstone disease - interdisciplinary treatment].
Obesity, Abdominal
The Pro12Ala variant at the peroxisome proliferator-activated receptor gamma gene and change in obesity-related traits in the Diabetes Prevention Program.
Optic Atrophy
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Osteoarthritis
Circular RNA Atp9b, a competing endogenous RNA, regulates the progression of osteoarthritis by targeting miR-138-5p.
Ovarian Cysts
Human trypsinogens in the pancreas and in cancer.
Ovarian Neoplasms
ATP11B mediates platinum resistance in ovarian cancer.
Induction of PLSCR1 in a STING/IRF3-Dependent Manner upon Vector Transfection in Ovarian Epithelial Cells.
Inhibition of ABCB1 (MDR1) and ABCB4 (MDR3) expression by small interfering RNA and reversal of paclitaxel resistance in human ovarian cancer cells.
Phospholipid Scramblase 1, an interferon-regulated gene located at 3q23, is regulated by SnoN/SkiL in ovarian cancer cells.
Suppression of ovarian carcinoma cell growth in vivo by the interferon-inducible plasma membrane protein, phospholipid scramblase 1.
Overnutrition
[Gallstone disease - interdisciplinary treatment].
Overweight
Association of PPARG2 Pro12Ala variant with larger body mass index in Mestizo and Amerindian populations of Mexico.
Peculiarities of the effects of bile acids on atpase activity of the colon mucosa in patients with overweight and irritable bowel syndrome.
The Pro12Ala polymorphism in PPAR gamma2 may confer resistance to type 2 diabetes.
p-type phospholipid transporter deficiency
A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells.
A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.
ABCB4 / MDR3 in health and disease - at the crossroads of biochemistry and medicine.
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice.
Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content.
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
ATP11B deficiency leads to impairment of hippocampal synaptic plasticity.
ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes.
Atp8a1 deficiency is associated with phosphatidylserine externalization in hippocampus and delayed hippocampus-dependent learning.
ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained.
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
ATP8B1 is essential for maintaining normal hearing.
ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.
Bone marrow-derived multidrug resistance protein ABCB4 protects against atherosclerotic lesion development in LDL receptor knockout mice.
C-terminus of the P4-ATPase ATP8A2 functions in protein folding and regulation of phospholipid flippase activity.
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Control of Protein and Sterol Trafficking by Antagonistic Activities of a P4-ATPase and Oxysterol Binding Protein Homologue.
Current and future therapies for inherited cholestatic liver diseases.
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.
Hypothyroidism Associated with ATP8B1 Deficiency.
In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene.
Long-term colestyramine treatment prevents cholestatic attacks in refractory benign recurrent intrahepatic cholestasis type 1 disease.
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
Pathologic Features of Hereditary Cholestatic Diseases.
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Phospholipid flippases: Building asymmetric membranes and transport vesicles.
Progressive familial intrahepatic cholestasis type 1.
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
STAT3 Cooperates With Phospholipid Scramblase 2 to Suppress Type I Interferon Response.
Strain background modifies phenotypes in the ATP8B1-deficient mouse.
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models.
Targeting the ABCB4 gene to control cholesterol homeostasis.
The cytoplasmic C-terminal region of the ATP11C variant determines its localization at the polarized plasma membrane.
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.
The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator.
TMEM41B acts as an ER scramblase required for lipoprotein biogenesis and lipid homeostasis.
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
[Gallstone disease - interdisciplinary treatment].
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]
Pancreatic Neoplasms
Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico.
Pancreatitis
Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation.
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
[Acute pancreatitis secondary to partial Multidrug resistance 3 p-glycoprotein deficit].
Pancreatitis, Chronic
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
Pancytopenia
Tmem30a plays critical roles in ensuring the survival of hematopoietic cells and leukemia cells in mice.
Papilloma
MMP-9 activation by tumor trypsin-2 enhances in vivo invasion of human tongue carcinoma cells.
Parasitic Diseases
A malaria parasite phospholipid flippase safeguards midgut traversal of ookinetes for mosquito transmission.
Parkinson Disease
ATP10B and the Risk for Early-Onset Parkinson's Disease.
ATP10B and the risk for Parkinson's disease.
ATP10B variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Genetic analysis of ATP10B for Parkinson's disease in Japan.
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Reply: ATP10B and the risk for Parkinson's disease.
Parkinsonian Disorders
Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism.
Segregation of ATP10B variants in families with autosomal recessive parkinsonism.
Peripheral Nervous System Diseases
Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies.
Phenylketonurias
In vivo effects of high phenylalanine blood levels on Na+,K+-ATPase, Mg2+-ATPase activities and biogenic amine concentrations in phenylketonuria.
Plasmacytoma
Inhibition of (Na+ + K+)-ATPase by ouabain: involvement of calcium and membrane proteins.
Pneumonia
Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.
Prader-Willi Syndrome
Gender influences monoallelic expression of ATP10A in human brain.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Resistance to farnesyltransferase inhibitors in Bcr/Abl-positive lymphoblastic leukemia by increased expression of a novel ABC transporter homolog ATP11a.
Premature Birth
A possible role for the PPARG Pro12Ala polymorphism in preterm birth.
Proteinuria
Peroxisome proliferator-activated receptor-gamma2 polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes: The Berlin Diabetes Mellitus (BeDiaM) Study.
Pruritus
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment.
Chinese Children With Chronic Intrahepatic Cholestasis And High Gamma-Glutamyl Transpeptidase: Clinical Features And Association With ABCB4 Mutations.
Liver disease associated with canalicular transport defects: current and future therapies.
Reduced spontaneous itch in mouse models of cholestasis.
Pulmonary Fibrosis
Oxidative stress induces club cell proliferation and pulmonary fibrosis in Atp8b1 mutant mice.
Respiratory Distress Syndrome
Effect and mechanism of phospholipid scramblase 4 (PLSCR4) on lipopolysaccharide (LPS)-induced injury to human pulmonary microvascular endothelial cells.
Retinal Degeneration
DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice.
Retinal Dystrophies
Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.
Retinitis Pigmentosa
Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants.
Scleroderma, Systemic
Analysis of ATP8B4 F436L missense variant in a large Systemic sclerosis cohort.
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.
Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.
Seizures
Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study.
Microglial MERTK eliminates phosphatidylserine-displaying inhibitory post-synapses.
[ATPase activity of subcellular rat brain fractions following hyperoxia]
Sepsis
Alterations of Na+-K+-ATPase, Ca2+-ATPase, and Mg2+-ATPase activities in erythrocyte, muscle, and liver of traumatic and septic patients.
Shock, Septic
Bioinformatic analysis identifies potential biomarkers and therapeutic targets of septic-shock-associated acute kidney injury.
Skin Diseases
Lipid transport by mammalian ABC proteins.
MAP17 is associated with the T-helper cell cytokine-induced down-regulation of filaggrin transcription in human keratinocytes.
Spinocerebellar Ataxias
TMEM16K is an interorganelle regulator of endosomal sorting.
Stargardt Disease
DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice.
Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.
Lipid transport by mammalian ABC proteins.
Starvation
An unexpectedly high degree of specialization and a widespread involvement in sterol metabolism among the C. elegans putative aminophospholipid translocases.
The type II secretion system (Xcp) of Pseudomonas putida is active and involved in the secretion of phosphatases.
Stomach Neoplasms
Effects of endoscopic submucosal dissection on post-operative early treatment effectiveness and serum TAT-2 and GP73 expression levels in patients with early gastric cancer.
Peroxisome proliferator-activated receptor-gamma Pro12Ala polymorphism, Helicobacter pylori infection and non-cardia gastric carcinoma in Chinese.
Tumor-associated trypsin inhibitor (TATI) and tumor-associated trypsin-2 (TAT-2) predict outcomes in gastric cancer.
Tangier Disease
Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies.
Lipid transport by mammalian ABC proteins.
Thalassemia
Erythrocyte ion channels in regulation of apoptosis.
Thiamine Deficiency
[Effect of thiamine deficiency and excess on activity of NA+, K+, Mg2+-ATPase in plasma membranes of rat liver]
Thrombophilia
Increased expression of phospholipid scramblase 1 in monocytes from patients with systemic lupus erythematosus.
Tooth Abnormalities
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Tuberculosis
A piperidinol-containing molecule is active against Mycobacterium tuberculosis by inhibiting the mycolic acid flippase activity of MmpL3.
Identification of New MmpL3 Inhibitors by Untargeted and Targeted Mutant Screens Defines MmpL3 Domains with Differential Resistance.
Urinary Bladder Neoplasms
Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico.
Urolithiasis
Oxalate impairs aminophospholipid translocase activity in renal epithelial cells via oxidative stress: implications for calcium oxalate urolithiasis.
Uterine Cervical Neoplasms
Resveratrol significantly inhibits the occurrence and development of cervical cancer by regulating phospholipid scramblase 1.
Uterine Inertia
[ATPase activity and fluorescence of myometrial actomyosin in experimental uterine inertia]
Vasospasm, Intracranial
Interactive role of protein kinase C-delta with rho-kinase in the development of cerebral vasospasm in a canine two-hemorrhage model.
Vesicular Stomatitis
Inhibition of Hepatitis B virus replication by Phospholipid scramblase 1 in vitro and in vivo.
Phospholipid scramblase 1 potentiates the antiviral activity of interferon.
Virus Diseases
An inner activation gate controls TMEM16F phospholipid scrambling.
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection.
Human phospholipid scramblase 1 interacts with and regulates transactivation of HTLV-1 Tax.
Interaction of phospholipid scramblase 1 with the Epstein-Barr virus protein BZLF1 represses BZLF1-mediated lytic gene transcription.
Pregnancy and Interferon Tau Regulate DDX58 and PLSCR1 in the Ovine Uterus During the Peri-Implantation Period.
Time-Resolved Systems Medicine Reveals Viral Infection-Modulating Host Targets.