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Journal Abstract Search

289 related items for PubMed ID: 23664118

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
    Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S.
    Am J Hum Genet; 2013 Jun 06; 92(6):927-34. PubMed ID: 23664117
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
    Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L.
    Clin Genet; 2018 Jun 15; 93(6):1148-1158. PubMed ID: 29443383
    [Abstract] [Full Text] [Related]

  • 5. Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
    Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M.
    Mol Genet Metab Rep; 2015 Mar 15; 2():1-15. PubMed ID: 28649518
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 36(5):535-47. PubMed ID: 25703627
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 84(7):583-94. PubMed ID: 16583246
    [Abstract] [Full Text] [Related]

  • 8. Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
    Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G.
    Am J Med Genet A; 2021 Oct 15; 185(10):3153-3160. PubMed ID: 34159694
    [Abstract] [Full Text] [Related]

  • 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 15; 31(8):966-74. PubMed ID: 20533528
    [Abstract] [Full Text] [Related]

  • 10. Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2021 Aug 15; 1348():235-249. PubMed ID: 34807422
    [Abstract] [Full Text] [Related]

  • 11. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Aug 15; 802():145-59. PubMed ID: 24443026
    [Abstract] [Full Text] [Related]

  • 12. Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.
    Hirose T, Takahashi N, Tangkawattana P, Minaguchi J, Mizumoto S, Yamada S, Miyake N, Hayashi S, Hatamochi A, Nakayama J, Yamaguchi T, Hashimoto A, Nomura Y, Takehana K, Kosho T, Watanabe T.
    Biochim Biophys Acta Gen Subj; 2019 Mar 15; 1863(3):623-631. PubMed ID: 30553867
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
    Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L.
    Genes (Basel); 2019 Oct 12; 10(10):. PubMed ID: 31614862
    [Abstract] [Full Text] [Related]

  • 15. 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 12; 43(1-2):65-77. PubMed ID: 15859521
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.
    Götte M, Spillmann D, Yip GW, Versteeg E, Echtermeyer FG, van Kuppevelt TH, Kiesel L.
    Hum Mol Genet; 2008 Apr 01; 17(7):996-1009. PubMed ID: 18158310
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 170(6):1556-63. PubMed ID: 26940150
    [Abstract] [Full Text] [Related]

  • 19. Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer.
    Wu J, Utani A, Endo H, Shinkai H.
    J Dermatol Sci; 2001 Oct 01; 27(2):95-103. PubMed ID: 11532373
    [Abstract] [Full Text] [Related]

  • 20. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
    Syx D, Delbaere S, Bui C, De Clercq A, Larson G, Mizumoto S, Kosho T, Fournel-Gigleux S, Malfait F.
    Am J Physiol Cell Physiol; 2022 Dec 01; 323(6):C1843-C1859. PubMed ID: 35993517
    [Abstract] [Full Text] [Related]

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