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Journal Abstract Search

173 related items for PubMed ID: 11707460

  • 1. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations.
    Lamandé SR, Mörgelin M, Selan C, Jöbsis GJ, Baas F, Bateman JF.
    J Biol Chem; 2002 Jan 18; 277(3):1949-56. PubMed ID: 11707460
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  • 2. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.
    Lamandé SR, Shields KA, Kornberg AJ, Shield LK, Bateman JF.
    J Biol Chem; 1999 Jul 30; 274(31):21817-22. PubMed ID: 10419498
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  • 3. Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
    Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.
    Ann Neurol; 2007 Oct 30; 62(4):390-405. PubMed ID: 17886299
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  • 6. Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.
    Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR.
    J Biol Chem; 2010 Oct 22; 285(43):33567-33576. PubMed ID: 20729548
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  • 7. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
    Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG.
    Hum Mutat; 2013 Nov 22; 34(11):1558-67. PubMed ID: 24038877
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  • 8. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
    Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.
    Hum Mol Genet; 2005 Jan 15; 14(2):279-93. PubMed ID: 15563506
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  • 9. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
    Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA.
    Nat Genet; 1996 Sep 15; 14(1):113-5. PubMed ID: 8782832
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  • 11. The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells.
    Lamandé SR, Mörgelin M, Adams NE, Selan C, Allen JM.
    J Biol Chem; 2006 Jun 16; 281(24):16607-14. PubMed ID: 16613849
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  • 12. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.
    Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu ML.
    Biochem Biophys Res Commun; 1999 May 19; 258(3):802-7. PubMed ID: 10329467
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  • 13. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
    Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML.
    Am J Hum Genet; 2003 Aug 19; 73(2):355-69. PubMed ID: 12840783
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  • 14. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
    Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP.
    Neurology; 2002 Feb 26; 58(4):593-602. PubMed ID: 11865138
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  • 15. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
    Caria F, Cescon M, Gualandi F, Pichiecchio A, Rossi R, Rimessi P, Cotti Piccinelli S, Gallo Cassarino S, Gregorio I, Galvagni A, Ferlini A, Padovani A, Bonaldo P, Filosto M.
    Neuromuscul Disord; 2019 Sep 26; 29(9):657-663. PubMed ID: 31471117
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  • 16. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
    Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC.
    Hum Mol Genet; 1998 May 26; 7(5):807-12. PubMed ID: 9536084
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  • 17. A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.
    Pan TC, Zhang RZ, Arita M, Bogdanovich S, Adams SM, Gara SK, Wagener R, Khurana TS, Birk DE, Chu ML.
    J Biol Chem; 2014 Apr 11; 289(15):10293-10307. PubMed ID: 24563484
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  • 18. The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line.
    Lamandé SR, Sigalas E, Pan TC, Chu ML, Dziadek M, Timpl R, Bateman JF.
    J Biol Chem; 1998 Mar 27; 273(13):7423-30. PubMed ID: 9516440
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  • 19. Autosomal recessive Bethlem myopathy.
    Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L.
    Neurology; 2009 Dec 01; 73(22):1883-91. PubMed ID: 19949035
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  • 20. The N-terminal N5 subdomain of the alpha 3(VI) chain is important for collagen VI microfibril formation.
    Fitzgerald J, Mörgelin M, Selan C, Wiberg C, Keene DR, Lamandé SR, Bateman JF.
    J Biol Chem; 2001 Jan 05; 276(1):187-93. PubMed ID: 11027693
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