| 1 | COL6A1, COL6A2, CRELD1, FBLN2, FRZB, GATA5, VEGFA
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| An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects.
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| Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL.
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| Am J Hum Genet 91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017.
2012
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| 2 | 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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| 3 | COL6A1
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| Beta ig-h3 interacts directly with biglycan and decorin, promotes collagen VI aggregation, and participates in ternary complexing with these macromolecules.
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| Reinboth B, Thomas J, Hanssen E, Gibson MA.
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| J Biol Chem 281(12):7816-24. Epub 2006 Jan 24. 2006
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| 4 | 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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| 5 | COL6A1, BTHM1
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| Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
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| Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G.
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| Neurology 64(11):1931-7. 2005
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| 6 | COL6A1
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| COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese.
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| Tsukahara S, Miyazawa N, Akagawa H, Forejtova S, Pavelka K, Tanaka T, Toh S, Tajima A, Akiyama I, Inoue I.
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| Spine 30(20):2321-4. 2005
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| 7 | UCMD3, COL6A1
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| Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
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| Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G.
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| Ann Neurol 58(3):400-10. 2005
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| 8 | COL6A1, UCMD3
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| New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
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| Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML.
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| Am J Hum Genet 73(2):355-69. Epub 2003 Jul 01. 2003
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| 9 | 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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| 10 | COL6A1, BTHM1
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| Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
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| Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G.
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| Muscle Nerve 25(4):513-9. 2002
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| 11 | COL5A2, COL5A1, COL6A1
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| Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases.
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| Unsold C, Pappano WN, Imamura Y, Steiglitz BM, Greenspan DS.
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| J Biol Chem 277(7):5596-602. Epub 2001 Dec 12. 2002
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| 12 | BTHM1, COL6A1
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| 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.
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| Pepe G, et al.
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| Biochem Biophys Res Commun 258(3):802-7. 1999
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| 13 | ADARB1, C21orf33, CABIN1, COL18A1, COL6A1, COL6A2, CSTB, ILVBL, ITGB2, KRTAP12-1, PDXK, PFKL, PGA1, PRMT2, S100B, TRAPPC10, TRPM2, UBE2G2
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| Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.
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| Wiltshire T, Pletcher M, Cole SE, Villanueva M, Birren B, Lehoczky J, Dewar K, Reeves RH.
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| Genome Res 9(12):1214-22 1999
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| 14 | 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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| 15 | COL6A1, COL6A2
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| Human COL6A1 : genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2.
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| Trikka D, et al.
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| Mamm Genome 8 : 342-345. 1997
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| 16 | COL6A1, COL6A2, BTHM1
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| Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
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| Jšbsis GJ, et al.
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| Nat Genet 14 : 113-115. 1996
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| 17 | COL6A1, COL6A2
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| Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH.
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| Heiskanen M, Saitta B, Palotie A, Chu ML.
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| Genomics 29(3):801-3. 1995
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| 18 | COL6A1, COL6A2
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| Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome).
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| Davies GE, et al.
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| Ann Hum Genet 59 : 253-269. 1995
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| 19 | ETS2, HMGN1, ITGB2, COL6A1
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| DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21.
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| Avramopoulos D, et al.
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| Genomics 15 : 98-102. 1993
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| 20 | COL6A1, COL6A2
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| Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster : novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome.
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| Davies GE, et al.
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| Hum Genet 90 : 521-525. 1993
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| 21 | COL6A1, COL6A2
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| The exon organization of the triple-helical coding regions of the human alpha-1(VI) and alpha-2(VI) collagen genes is highly similar.
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| Saitta B, et al.
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| Genomics 11 : 145-153. 1991
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| 22 | COL6A1, COL6A2
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| The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.
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| Francomano CA, et al.
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| Hum Genet 87 : 162-166. 1991
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| 23 | 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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| 24 | 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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