Disease on EC 2.8.2.35 - dermatan 4-sulfotransferase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
Clubfoot
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
Congenital Abnormalities
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Congenital Disorders of Glycosylation
Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.
Contracture
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Craniofacial Abnormalities
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
dermatan 4-sulfotransferase deficiency
A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.
dermatan 4-sulfotransferase deficiency
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
dermatan 4-sulfotransferase deficiency
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
dermatan 4-sulfotransferase deficiency
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients.
dermatan 4-sulfotransferase deficiency
Impaired Cognitive Function and Altered Hippocampal Synaptic Plasticity in Mice Lacking Dermatan Sulfotransferase Chst14/D4st1.
dermatan 4-sulfotransferase deficiency
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
dermatan 4-sulfotransferase deficiency
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).
dermatan 4-sulfotransferase deficiency
Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.
dermatan 4-sulfotransferase deficiency
Systematic investigation of the skin in Chst14-/- mice: a model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14).
dermatan 4-sulfotransferase deficiency
Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.
Ehlers-Danlos Syndrome
A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.
Ehlers-Danlos Syndrome
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Ehlers-Danlos Syndrome
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients.
Ehlers-Danlos Syndrome
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Ehlers-Danlos Syndrome
Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back.
Ehlers-Danlos Syndrome
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Ehlers-Danlos Syndrome
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
Ehlers-Danlos Syndrome
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
Ehlers-Danlos Syndrome
Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome
Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases.
Ehlers-Danlos Syndrome
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
Ehlers-Danlos Syndrome
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).
Ehlers-Danlos Syndrome
Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.
Ehlers-Danlos Syndrome
Systematic investigation of the skin in Chst14-/- mice: a model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14).
Ehlers-Danlos Syndrome
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Muscle Weakness
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
Muscular Diseases
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
procollagen-lysine 5-dioxygenase deficiency
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients.
Spinal Cord Injuries
Germline ablation of dermatan-4O-sulfotransferase1 reduces regeneration after mouse spinal cord injury.
Spinal Cord Injuries
Knockdown of chondroitin-4-sulfotransferase-1, but not of dermatan-4-sulfotransferase-1, accelerates regeneration of zebrafish after spinal cord injury.
Stomach Neoplasms
Pan-Cancer Analysis Reveals Distinct Metabolic Reprogramming in Different Epithelial-Mesenchymal Transition Activity States.
Talipes
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
html completed
