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6. Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency. Yoshizawa T; Mizumoto S; Takahashi Y; Shimada S; Sugahara K; Nakayama J; Takeda S; Nomura Y; Nitahara-Kasahara Y; Okada T; Matsumoto K; Yamada S; Kosho T Glycobiology; 2018 Feb; 28(2):80-89. PubMed ID: 29206923 [TBL] [Abstract][Full Text] [Related]
7. Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation. Nitahara-Kasahara Y; Posadas-Herrera G; Mizumoto S; Nakamura-Takahashi A; Inoue YU; Inoue T; Nomura Y; Takeda S; Yamada S; Kosho T; Okada T Front Cell Dev Biol; 2021; 9():695021. PubMed ID: 34708033 [No Abstract] [Full Text] [Related]
8. Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. Mizumoto S; Kosho T; Hatamochi A; Honda T; Yamaguchi T; Okamoto N; Miyake N; Yamada S; Sugahara K Clin Biochem; 2017 Aug; 50(12):670-677. PubMed ID: 28238810 [TBL] [Abstract][Full Text] [Related]
9. 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; Hirose T; Mizumoto S; Yamaguchi T; Nagae C; Taki M; Yamada S; Watanabe T; Kosho T Hum Mutat; 2022 Dec; 43(12):1829-1836. PubMed ID: 35842784 [TBL] [Abstract][Full Text] [Related]
11. A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing. Nitahara-Kasahara Y; Mizumoto S; Inoue YU; Saka S; Posadas-Herrera G; Nakamura-Takahashi A; Takahashi Y; Hashimoto A; Konishi K; Miyata S; Masuda C; Matsumoto E; Maruoka Y; Yoshizawa T; Tanase T; Inoue T; Yamada S; Nomura Y; Takeda S; Watanabe A; Kosho T; Okada T Dis Model Mech; 2021 Dec; 14(12):. PubMed ID: 34850861 [TBL] [Abstract][Full Text] [Related]
12. Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in Kobayashi T; Fujishima F; Tokodai K; Sato C; Kamei T; Miyake N; Matsumoto N; Kosho T Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239439 [TBL] [Abstract][Full Text] [Related]
13. CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. Kosho T Pediatr Int; 2016 Feb; 58(2):88-99. PubMed ID: 26646600 [TBL] [Abstract][Full Text] [Related]
14. Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. Syx D; Van Damme T; Symoens S; Maiburg MC; van de Laar I; Morton J; Suri M; Del Campo M; Hausser I; Hermanns-Lê T; De Paepe A; Malfait F Hum Mutat; 2015 May; 36(5):535-47. PubMed ID: 25703627 [TBL] [Abstract][Full Text] [Related]
15. Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in Kawakita M; Iwasaki S; Moteki H; Nishio SY; Kosho T; Usami SI Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510254 [TBL] [Abstract][Full Text] [Related]
16. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Miyake N; Kosho T; Mizumoto S; Furuichi T; Hatamochi A; Nagashima Y; Arai E; Takahashi K; Kawamura R; Wakui K; Takahashi J; Kato H; Yasui H; Ishida T; Ohashi H; Nishimura G; Shiina M; Saitsu H; Tsurusaki Y; Doi H; Fukushima Y; Ikegawa S; Yamada S; Sugahara K; Matsumoto N Hum Mutat; 2010 Aug; 31(8):966-74. PubMed ID: 20533528 [TBL] [Abstract][Full Text] [Related]
17. Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). Uehara M; Kosho T; Yamamoto N; Takahashi HE; Shimakura T; Nakayama J; Kato H; Takahashi J Am J Med Genet A; 2018 Nov; 176(11):2331-2341. PubMed ID: 30195269 [TBL] [Abstract][Full Text] [Related]
18. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. Müller T; Mizumoto S; Suresh I; Komatsu Y; Vodopiutz J; Dundar M; Straub V; Lingenhel A; Melmer A; Lechner S; Zschocke J; Sugahara K; Janecke AR Hum Mol Genet; 2013 Sep; 22(18):3761-72. PubMed ID: 23704329 [TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in Minatogawa M; Unzaki A; Morisaki H; Syx D; Sonoda T; Janecke AR; Slavotinek A; Voermans NC; Lacassie Y; Mendoza-Londono R; Wierenga KJ; Jayakar P; Gahl WA; Tifft CJ; Figuera LE; Hilhorst-Hofstee Y; Maugeri A; Ishikawa K; Kobayashi T; Aoki Y; Ohura T; Kawame H; Kono M; Mochida K; Tokorodani C; Kikkawa K; Morisaki T; Kobayashi T; Nakane T; Kubo A; Ranells JD; Migita O; Sobey G; Kaur A; Ishikawa M; Yamaguchi T; Matsumoto N; Malfait F; Miyake N; Kosho T J Med Genet; 2022 Sep; 59(9):865-877. PubMed ID: 34815299 [TBL] [Abstract][Full Text] [Related]
20. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Janecke AR; Li B; Boehm M; Krabichler B; Rohrbach M; Müller T; Fuchs I; Golas G; Katagiri Y; Ziegler SG; Gahl WA; Wilnai Y; Zoppi N; Geller HM; Giunta C; Slavotinek A; Steinmann B Am J Med Genet A; 2016 Jan; 170A(1):103-15. PubMed ID: 26373698 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]