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Journal Abstract Search

156 related items for PubMed ID: 10506123

  • 1. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.
    Okajima T, Fukumoto S, Furukawa K, Urano T.
    J Biol Chem; 1999 Oct 08; 274(41):28841-4. PubMed ID: 10506123
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  • 2. Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
    Furukawa K, Okajima T.
    Biochim Biophys Acta; 2002 Dec 19; 1573(3):377-81. PubMed ID: 12417421
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  • 3. Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome.
    Rahuel-Clermont S, Daligault F, Piet MH, Gulberti S, Netter P, Branlant G, Magdalou J, Lattard V.
    Biochem J; 2010 Dec 01; 432(2):303-11. PubMed ID: 20809901
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  • 4. Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).
    Bui C, Talhaoui I, Chabel M, Mulliert G, Coughtrie MW, Ouzzine M, Fournel-Gigleux S.
    FEBS Lett; 2010 Sep 24; 584(18):3962-8. PubMed ID: 20691685
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  • 5. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
    Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A.
    Am J Med Genet A; 2013 Oct 24; 161A(10):2519-27. PubMed ID: 23956117
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  • 14. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
    Seidler DG, Faiyaz-Ul-Haque M, Hansen U, Yip GW, Zaidi SH, Teebi AS, Kiesel L, Götte M.
    J Mol Med (Berl); 2006 Jul 24; 84(7):583-94. PubMed ID: 16583246
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  • 16. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.
    Deng Y, Wei S, Hu S, Chen J, Tan Z, Yang Y.
    Mol Med Rep; 2015 Jul 24; 12(1):1119-24. PubMed ID: 25776230
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  • 19. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome.
    Quentin E, Gladen A, Rodén L, Kresse H.
    Proc Natl Acad Sci U S A; 1990 Feb 24; 87(4):1342-6. PubMed ID: 2106134
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