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Spinal Deformity in Ehlers-Danlos Syndrome: Focus on Musculocontractural Type.
Uehara M, Takahashi J, Kosho T. Uehara M, et al. Genes (Basel). 2023 May 27;14(6):1173. doi: 10.3390/genes14061173. Genes (Basel). 2023. PMID: 37372353 Free PMC article. Review.
Spinal deformity in Ehlers-Danlos syndrome (EDS) is an important symptom that can lead to trunk balance deterioration, respiratory dysfunction, and digestive disorders as the deformity progresses, thereby reducing a patient's quality of life and activities of …
Spinal deformity in Ehlers-Danlos syndrome (EDS) is an important symptom that can lead to trunk balance deterioration, …
Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.
Mizumoto S, Yamada S. Mizumoto S, et al. Genes (Basel). 2023 Feb 16;14(2):509. doi: 10.3390/genes14020509. Genes (Basel). 2023. PMID: 36833436 Free PMC article. Review.
Pathogenic variants in human genes encoding DSE and D4ST cause the musculocontractural type of Ehlers-Danlos syndrome, characterized by tissue fragility, joint hypermobility, and skin hyperextensibility. ...
Pathogenic variants in human genes encoding DSE and D4ST cause the musculocontractural type of Ehlers-Danlos
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.
Kosho T, Mizumoto S, Watanabe T, Yoshizawa T, Miyake N, Yamada S. Kosho T, et al. Genes (Basel). 2019 Dec 29;11(1):43. doi: 10.3390/genes11010043. Genes (Basel). 2019. PMID: 31905796 Free PMC article. Review.
Musculocontractural Ehlers-Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfat
Musculocontractural Ehlers-Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in th
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Kosho T. Kosho T. Pediatr Int. 2016 Feb;58(2):88-99. doi: 10.1111/ped.12878. Pediatr Int. 2016. PMID: 26646600 Review.
Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducte …
Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Da
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.
Schirwani S, Metcalfe K, Wagner B, Berry I, Sobey G, Jewell R. Schirwani S, et al. Eur J Med Genet. 2020 Apr;63(4):103798. doi: 10.1016/j.ejmg.2019.103798. Epub 2019 Oct 23. Eur J Med Genet. 2020. PMID: 31655143 Review.
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive condition characterized by distinct craniofacial features, multisystem congenital malformations and progressive fragility of connective tissues. ...The second patient has a ph
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive condition characterized by distinct
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, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T. Shimizu K, et al. Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744491 Review.
Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho …
Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-c …