| 1 | COL6A3, DYT27
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| The role of mutations in COL6A3 in isolated dystonia.
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| Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C.
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| J Neurol 263(4):730-4. doi: 10.1007/s00415-016-8046-y.
2016
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| 2 | COL6A3, DYT27
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| Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia.
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| Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J.
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| Am J Hum Genet 96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21.
2015
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| 3 | COL6A3, TAF4
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| TAF4 inactivation reveals the 3 dimensional growth promoting activities of collagen 6A3.
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| Martianov I, Cler E, Duluc I, Vicaire S, Philipps M, Freund JN, Davidson I.
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| PLoS One 9(2):e87365. doi: 10.1371/journal.pone.0087365. eCollection 2014.
2014
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| 4 | COL6A3
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| Col6a3 Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy.
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| Pan TC, Zhang RZ, Markova D, Arita M, Zhang Y, Bogdanovich S, Khurana TS, Bonnemann CG, Birk DE, Chu ML.
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| J Biol Chem Biol Chem. 2013 Apr 5. [Epub ahead of print]
2013
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| 5 | COL6A3, COL6A5, COL6A6
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| Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.
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| Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R.
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| Matrix Biol 31(3):187-96. doi: 10.1016/j.matbio.2011.12.003. Epub 2011 Dec 30.
2012
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| 6 | COL6A3, CSF1
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| Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors.
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| Mšller E, Mandahl N, Mertens F, Panagopoulos I.
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| Genes Chromosomes Cancer 47(1):21-5. 2008
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| 7 | COL6A1, COL6A2, COL6A3, UCMD1, UCMD2, UCMD3, BTHM1, BTHM2
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| Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
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| Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bšnnemann CG.
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| Hum Mutat 29(6):809-22. 2008
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| 8 | BTHM2, COL6A3
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| Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
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| 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.
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| Ann Neurol 62(4):390-405.
2007
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| 9 | COL6A3
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| 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.
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| Lamande SR, Morgelin M, Adams NE, Selan C, Allen JM.
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| J Biol Chem 281(24):16607-14. Epub 2006 Apr 12. 2006
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| 10 | COL6A3
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| Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains.
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| Squarzoni S, Sabatelli P, Bergamin N, Guicheney P, Demir E, Merlini L, Lattanzi G, Ognibene A, Capanni C, Mattioli E, Columbaro M, Bonaldo P, Maraldi NM.
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| J Cell Physiol 206(1):160-6. 2006
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| 11 | BTHM1, BTHM2, COL6A1, COL6A2, COL6A3, UCMD1, UCMD2, UCMD3
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| Collagen VI related muscle disorders.
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| Lampe AK, Bushby KM.
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| J Med Genet 42(9):673-85. 2005
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| 12 | COL6A1, COL6A2, UCMD1, UCMD2, COL6A3, UCMD3
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| Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
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| Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.
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| Am J Hum Genet 70(6):1446-58. Epub 2002 Apr 24. 2002
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| 13 | COL6A3, UCMD3
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| Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.
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| Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, Nonaka I.
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| Neurology 59(6):920-3. 2002
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| 14 | ALB, CAD, CCNA2, CDC25A, CDK1, CEBPA, COL1A1, COL1A2, COL3A1, COL6A3, DHFR, DMTF1, GADD45A, JUN, LDHA, MXI1, MYC, ODC1, RCC1, SERPINE1, TERT, TK1, TK2, TP53
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| c-Myc target genes involved in cell growth, apoptosis, and metabolism.
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| Dang CV.
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| Mol Cell Biol 19(1):1-11. Review. No abstract available 1999
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| 15 | BTHM2, COL6A3
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| A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
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| Pepe G, et al.
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| Neuromuscul Disord 9(4):264-71 1999
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| 16 | BTHM2, COL6A3
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| Missense mutation in a von Willebrand factor type A domain of the alpha3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
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| Pan TC, et al.
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| Hum Mol Genet 7 : 807-812. 1998
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| 17 | COL6A3
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| CA repeat polymorphism of the COL6A3 gene on chromosome 2q37.
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| Pan TC, et al.
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| Hum Hered 48 : 235-236. 1998
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| 18 | BTHM1, BTHM2, COL6A1, COL6A3
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| Collagen VI deficiency induces early onset myopathy in the mouse : an animal model for Bethlem myopathy.
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| Bonaldo P, et al.
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| Hum Mol Genet 7 : 2135-2140. 1998
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| 19 | BTHM2, COL6A3
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| A G-A transition mutation in the N-terminal globular domain of COL6A3 leads to Bethlem myopathy. (abstr)
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| Speer MC, et al.
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| Am J Hum Genet 61 : A347. 1997
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| 20 | COL6A3, PAX3
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| Deletion or triplication of the alpha3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.
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| Rauch A, et al.
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| Clin Genet 49 : 279-285. 1996
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| 21 | COL6A3
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| The human type VI collagen gene. mRNA and protein variants of the alpha3 chain generated by alternative splicing of an additional 5-end exon.
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| Zanussi S, et al.
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| J Biol Chem 267 : 24082-24089. 1992
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| 22 | COL6A3
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| Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors.
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| Chu ML, et al.
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| EMBO J 9(2):385-93 1990
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| 23 | COL6A3
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| An NcoI RFLP associated with the gene encoding the alpha-3 chain of human type VI collagen (COL6A3).
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| Brotherton D, et al.
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| Nucleic Acids Res 17 : 1274. 1989
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| 24 | COL6A3
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| A Bgl1 polymorphism in the type VI (î3) procollagen gene [COL6A3].
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| Weaver EJ, Chu ML, Knowlton RG.
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| Nucleic Acids Res 16 : 11386. 1988
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| 25 | COL6A1, COL6A2, COL6A3
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| Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.
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| Weil D, et al.
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| Am J Hum Genet 42 : 435-445. 1988
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| 26 | COL6A1, COL6A2, COL6A3
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| Assignment of the three genes coding for the different chains of type VI collagen (COL6A1, COL6A2, COL6A3).
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| Weil D, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 713. 1987
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