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Journal Abstract Search

156 related items for PubMed ID: 34184791

  • 1. A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family.
    Ullah I, Aamir M, Ilyas M, Ahmed A, Jelani M, Ullah W, Abbas M, Ishfaq M, Ali F, Yip J, Efthymiou S, Ahmed H, Houlden H.
    Congenit Anom (Kyoto); 2021 Sep; 61(5):177-182. PubMed ID: 34184791
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  • 2. DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.
    Schirwani S, Metcalfe K, Wagner B, Berry I, Sobey G, Jewell R.
    Eur J Med Genet; 2020 Apr; 63(4):103798. PubMed ID: 31655143
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  • 3. Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.
    Kosho T, Mizumoto S, Watanabe T, Yoshizawa T, Miyake N, Yamada S.
    Genes (Basel); 2019 Dec 29; 11(1):. PubMed ID: 31905796
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  • 4. 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 29; 36(5):535-47. PubMed ID: 25703627
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  • 5. Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
    Lautrup CK, Teik KW, Unzaki A, Mizumoto S, Syx D, Sin HH, Nielsen IK, Markholt S, Yamada S, Malfait F, Matsumoto N, Miyake N, Kosho T.
    Mol Genet Genomic Med; 2020 May 29; 8(5):e1197. PubMed ID: 32130795
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  • 6. 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 15; 22(18):3761-72. PubMed ID: 23704329
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  • 7. 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, Fujishima F, Tokodai K, Sato C, Kamei T, Miyake N, Matsumoto N, Kosho T.
    Genes (Basel); 2023 May 14; 14(5):. PubMed ID: 37239439
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  • 8. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
    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 14; 59(9):865-877. PubMed ID: 34815299
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  • 14. Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14).
    Kawakita M, Iwasaki S, Moteki H, Nishio SY, Kosho T, Usami SI.
    Genes (Basel); 2023 Jun 27; 14(7):. PubMed ID: 37510254
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  • 16. 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 27; 170A(1):103-15. PubMed ID: 26373698
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  • 17. Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
    Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L.
    Am J Med Genet A; 2012 Jun 27; 158A(6):1344-54. PubMed ID: 22581468
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  • 18. Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14).
    Hirose T, Mizumoto S, Hashimoto A, Takahashi Y, Yoshizawa T, Nitahara-Kasahara Y, Takahashi N, Nakayama J, Takehana K, Okada T, Nomura Y, Yamada S, Kosho T, Watanabe T.
    Glycobiology; 2021 Feb 09; 31(2):137-150. PubMed ID: 32601684
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