Associated Papers
Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Shioya Y et al.
Gynecologic Oncology Reports, 2025
A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Liu Q et al.
Frontiers in Medicine, 2025
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14).
Kawakita M et al.
Genes, 2023
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14).
Kobayashi T et al.
Genes, 2023
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells.
Yue F et al.
Genes, 2023
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
Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers-Danlos Syndrome.
Hashimoto A 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
Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Gensemer C et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
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
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Mizumoto S et al.
Clinical Biochemistry, 2017
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Mizumoto S et al.
Pharmaceuticals (basel, Switzerland), 2017
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.
Kono M et al.
Acta Dermato-venereologica, 2016
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
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Syx D et al.
Human Mutation, 2015
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
Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
Mizumoto S et al.
The Journal of Biological Chemistry, 2013
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