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
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
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Syx D et al.
Human Mutation, 2015
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