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 pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
Minatogawa M et al.
Human Mutation, 2022
The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development.
Mizumoto S et al.
International Journal of Molecular Sciences, 2022
A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family.
Ullah I et al.
Congenital Anomalies, 2021
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
The structure of human dermatan sulfate epimerase 1 emphasizes the importance of C5-epimerization of glucuronic acid in higher organisms.
Hasan M et al.
Chemical Science, 2021
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Lautrup CK et al.
Molecular Genetics & Genomic Medicine, 2020
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
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
Müller T et al.
Human Molecular Genetics, 2013
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