Disease on EC 1.14.14.29 - 25/26-hydroxycholesterol 7alpha-hydroxylase

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DISEASE
TITLE OF PUBLICATION
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25/26-hydroxycholesterol 7alpha-hydroxylase deficiency
25R,26-Hydroxycholesterol revisited: synthesis, metabolism, and biologic roles.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Mechanisms of disease: Inborn errors of bile acid synthesis.
Adenocarcinoma
Regulation and expression of human CYP7B1 in prostate: overexpression of CYP7B1 during progression of prostatic adenocarcinoma.
Adrenoleukodystrophy
Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.
alpha-methylacyl-coa racemase deficiency
Mechanisms of disease: Inborn errors of bile acid synthesis.
Alzheimer Disease
Dehydroepiandrosterone 7-hydroxylase CYP7B: predominant expression in primate hippocampus and reduced expression in Alzheimer's disease.
Arthritis
DHEA metabolism in arthritis: a role for the p450 enzyme Cyp7b at the immune-endocrine crossroad.
Severity of murine collagen-induced arthritis correlates with increased CYP7B activity: enhancement of dehydroepiandrosterone metabolism by interleukin-1beta.
Arthritis, Experimental
CYP7B expression and activity in fibroblast-like synoviocytes from patients with rheumatoid arthritis: regulation by proinflammatory cytokines.
Severity of murine collagen-induced arthritis correlates with increased CYP7B activity: enhancement of dehydroepiandrosterone metabolism by interleukin-1beta.
Arthritis, Rheumatoid
CYP7B expression and activity in fibroblast-like synoviocytes from patients with rheumatoid arthritis: regulation by proinflammatory cytokines.
DHEA metabolism in arthritis: a role for the p450 enzyme Cyp7b at the immune-endocrine crossroad.
Tumour necrosis factor-alpha stimulates dehydroepiandrosterone metabolism in human fibroblast-like synoviocytes: a role for nuclear factor-kappaB and activator protein-1 in the regulation of expression of cytochrome p450 enzyme 7b.
Ataxia
Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
Atherosclerosis
The cholesterol metabolite 27-hydroxycholesterol promotes atherosclerosis via proinflammatory processes mediated by estrogen receptor alpha.
Breast Neoplasms
A potential role for the estrogen-metabolizing cytochrome P450 enzymes in human breast carcinogenesis.
Overexpression of G6PD is associated with high risks of recurrent metastasis and poor progression-free survival in primary breast carcinoma.
Carcinogenesis
Cytochromes P450 and Skin Cancer: Role of Local Endocrine Pathways.
Carcinoma, Hepatocellular
Transcriptional regulation of human oxysterol 7alpha-hydroxylase by sterol response element binding protein.
Cerebellar Diseases
Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
Cholestasis
Transcriptional regulation of human oxysterol 7 alpha-hydroxylase gene (CYP7B1) by Sp1.
Cholestasis, Intrahepatic
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
The Interaction of PPAR? and CYP7B1 with ER?, ? Impacted the Occurrence and Development of Intrahepatic Cholestasis in Pregnant Rats.
[Interaction among peroxisome proliferators-activated receptor alpha, cytochrome P450 oxysterol 7?-hydroxylase and estrogen receptor and its association with intrahepatic cholestasis in pregnant rats].
Colonic Neoplasms
MicroRNA-17 induces epithelial-mesenchymal transition consistent with the cancer stem cell phenotype by regulating CYP7B1 expression in colon cancer.
Colorectal Neoplasms
Characterisation of the oxysterol metabolising enzyme pathway in mismatch repair proficient and deficient colorectal cancer.
Diabetes Mellitus, Type 2
Androgen receptor overexpression in prostate cancer in type 2 diabetes.
Gallstones
Protective Effects of Yinchenhao Decoction on Cholesterol Gallstone in Mice Fed a Lithogenic Diet by Regulating LXR, CYP7A1, CYP7B1, and HMGCR Pathways.
Genetic Diseases, Inborn
CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.
Oxysterols as biomarkers in neurodegenerative diseases.
Glaucoma
Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
Hemochromatosis
Iron Overload Coordinately Promotes Ferritin Expression and Fat Accumulation in Caenorhabditis elegans.
Infections
Testosterone response of hepatic gene expression in female mice having acquired testosterone-unresponsive immunity to Plasmodium chabaudi malaria.
Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection.
Insulin Resistance
Hepatic insulin resistance directly promotes formation of cholesterol gallstones.
Iron Overload
Iron Overload Coordinately Promotes Ferritin Expression and Fat Accumulation in Caenorhabditis elegans.
Liver Diseases
25R,26-Hydroxycholesterol revisited: synthesis, metabolism, and biologic roles.
Complete Recovery of Oxysterol 7?-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene.
Liver Failure
CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.
Human steroid and oxysterol 7?-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants.
Muscle Spasticity
Cholestenoic acids regulate motor neuron survival via liver X receptors.
Neoplasms
27-Hydroxycholesterol promotes cell-autonomous, ER-positive breast cancer growth.
Androgen receptor overexpression in prostate cancer in type 2 diabetes.
CYP7B expression and activity in fibroblast-like synoviocytes from patients with rheumatoid arthritis: regulation by proinflammatory cytokines.
DHEA metabolism in arthritis: a role for the p450 enzyme Cyp7b at the immune-endocrine crossroad.
Expression of CYP and GST in human normal and colon tumor tissues.
Hyperglycemic Ins2AkitaLdlr-/- mice show severely elevated lipid levels and increased atherosclerosis: a model of type 1 diabetic macrovascular disease.
MicroRNA-17 induces epithelial-mesenchymal transition consistent with the cancer stem cell phenotype by regulating CYP7B1 expression in colon cancer.
Regulation and expression of human CYP7B1 in prostate: overexpression of CYP7B1 during progression of prostatic adenocarcinoma.
Tumour necrosis factor-alpha stimulates dehydroepiandrosterone metabolism in human fibroblast-like synoviocytes: a role for nuclear factor-kappaB and activator protein-1 in the regulation of expression of cytochrome p450 enzyme 7b.
Neurodegenerative Diseases
Comparative modeling of 25-hydroxycholesterol-7?-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
Estrogen-mediated regulation of steroid metabolism in rat glial cells; effects on neurosteroid levels via regulation of CYP7B1-mediated catalysis.
Osteoarthritis
The CH25H-CYP7B1-ROR? axis of cholesterol metabolism regulates osteoarthritis.
Paraplegia
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.
Cytochrome P450s in the synthesis of cholesterol and bile acids - from mouse models to human diseases.
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
SPG5 and multiple sclerosis: clinical and genetic overlap?
Paresis
Cholestenoic acids regulate motor neuron survival via liver X receptors.
Prostatic Hyperplasia
CYP7B generates a selective estrogen receptor beta agonist in human prostate.
Prostatic Intraepithelial Neoplasia
Regulation and expression of human CYP7B1 in prostate: overexpression of CYP7B1 during progression of prostatic adenocarcinoma.
Prostatic Neoplasms
A functional C-G polymorphism in the CYP7B1 promoter region and its different distribution in Orientals and Caucasians.
Regulation and expression of human CYP7B1 in prostate: overexpression of CYP7B1 during progression of prostatic adenocarcinoma.
Regulation of steroid hydroxylase CYP7B1 by androgens and estrogens in prostate cancer LNCaP cells.
Pulmonary Disease, Chronic Obstructive
Cholesterol metabolism promotes B-cell positioning during immune pathogenesis of chronic obstructive pulmonary disease.
Spastic Paraplegia, Hereditary
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Comparative modeling of 25-hydroxycholesterol-7?-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5.
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).
Identification of 7?,24-dihydroxy-3-oxocholest-4-en-26-oic and 7?,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma.
Liver disease in infancy caused by oxysterol 7?-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.
Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
Vaccinia
Cyp7b, a novel brain cytochrome P450, catalyzes the synthesis of neurosteroids 7alpha-hydroxy dehydroepiandrosterone and 7alpha-hydroxy pregnenolone.
Xanthomatosis, Cerebrotendinous
Cholestenoic acids regulate motor neuron survival via liver X receptors.
Mechanisms of disease: Inborn errors of bile acid synthesis.
Zellweger Syndrome
Mechanisms of disease: Inborn errors of bile acid synthesis.