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Journal Abstract Search

116 related items for PubMed ID: 20691685

  • 1.
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  • 2. 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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  • 5. 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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  • 7. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Oct 08; 802():145-59. PubMed ID: 24443026
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  • 9. 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 08; 31(8):966-74. PubMed ID: 20533528
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  • 10. [XGalT-1 involved in the synthesis of glyosaminoglycans of proteoglycans and Ehlers-Danlos syndrome (progeroid type)].
    Furukawa K, Okajima T, Nakamura Y.
    Tanpakushitsu Kakusan Koso; 2003 Jun 08; 48(8 Suppl):1152-7. PubMed ID: 12807023
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  • 11. Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.
    Götte M, Kresse H.
    Biochem Genet; 2005 Feb 08; 43(1-2):65-77. PubMed ID: 15859521
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  • 12. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.
    Delbaere S, Van Damme T, Syx D, Symoens S, Coucke P, Willaert A, Malfait F.
    Matrix Biol; 2020 Jul 08; 89():59-75. PubMed ID: 31862401
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  • 13. Further defining the phenotypic spectrum of B4GALT7 mutations.
    Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, DDD Study, Foulds N.
    Am J Med Genet A; 2016 Jun 08; 170(6):1556-63. PubMed ID: 26940150
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  • 14. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
    Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F.
    Hum Mol Genet; 2018 Oct 15; 27(20):3475-3487. PubMed ID: 29931299
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  • 15. Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2021 Oct 15; 1348():235-249. PubMed ID: 34807422
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  • 16. The Ehlers-Danlos syndromes.
    Yeowell HN, Pinnell SR.
    Semin Dermatol; 1993 Sep 15; 12(3):229-40. PubMed ID: 8217561
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  • 17. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
    Yeowell HN, Walker LC.
    Mol Genet Metab; 2000 Sep 15; 71(1-2):212-24. PubMed ID: 11001813
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  • 18. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
    Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS.
    Am J Med Genet A; 2004 Jul 01; 128A(1):39-45. PubMed ID: 15211654
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  • 19. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
    Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A.
    Am J Hum Genet; 2013 Jun 06; 92(6):935-45. PubMed ID: 23664118
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  • 20. 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 06; 161A(10):2519-27. PubMed ID: 23956117
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