Associated Papers
Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.
Mizumoto S et al.
Genes, 2023
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M et al.
Journal of Medical Genetics, 2022
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
Miyake N et al.
Advances in Experimental Medicine and Biology, 2021
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.
Kosho T et al.
Genes, 2019
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Mizumoto S et al.
Pharmaceuticals (basel, Switzerland), 2017
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Kosho T
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Janecke AR et al.
American Journal of Medical Genetics. Part A, 2016
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N et al.
Advances in Experimental Medicine and Biology, 2014
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
Winters KA et al.
American Journal of Medical Genetics. Part A, 2012
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.
Shimizu K et al.
American Journal of Medical Genetics. Part A, 2011
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N et al.
Human Mutation, 2010