| 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 | COL6A2, UCMD1
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| Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
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| Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SK, Bönnemann CG, Chu ML.
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| J Biol Chem 285(13):10005-15. Epub 2010 Jan 27. 2010
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| 3 | COL6A2
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| The alpha 2 chain of collagen type VI sequesters latent proforms of matrix-metalloproteinases and modulates their activation and activity.
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| Freise C, Erben U, Muche M, Farndale R, Zeitz M, Somasundaram R, Ruehl M.
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| Matrix Biol 28(8):480-9. Epub 2009 Aug 19.PMID: 19698785 2009
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| 4 | COL6A2, UCMD1
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| Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
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| Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.
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| Hum Mutat 30(5):E662-72.PMID: 19309692 2009
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| 5 | 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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| 6 | COL6A2, MYSC
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| Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
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| Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P.
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| Neurology 71(16):1245-53.PMID: 18852439 2008
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| 7 | UCMD1, UCMD2, UCMD3, COL6A2,COL6A3
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| Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
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| Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamande SR.
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| Hum Mol Genet 14(2):279-93. Epub 2004 Nov 24. 2005
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| 8 | 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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| 9 | BTHM1, UCMD1, COL6A2
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| A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
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| Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML.
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| Hum Genet 117(5):460-6. Epub 2005 Jun 17. 2005
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| 10 | COL6A2
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| Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.
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| Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bertini E, Pepe G, Chu ML.
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| J Biol Chem 277(46):43557-64. 2002
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| 11 | 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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| 12 | UCMD1, COL6A2
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| Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
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| Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F.
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| Neurology 58(9):1354-9. 2002
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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 | BTHM2, COL6A2
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| Reduced collagen VI causes Bethlem myopathy : a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.
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| LamandŽ SR, et al.
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| Hum Mol Genet 7 : 981-989. 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 | COL6A2
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| Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3.
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| Comeglio P, et al.
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| Hum Hered 46 : 239-240. 1996
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| 17 | 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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| 18 | 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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| 19 | 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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| 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 | COL6A2
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| Stable ring chromosome 21 : molecular and clinical definition of the lesion.
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| Falik-Borenstein TC, et al.
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| Am J Med Genet 42 : 22-28. 1992
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| 22 | 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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| 23 | 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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| 24 | COL6A2
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| The globular domains of type VI collagen are related to the collagen-binding domains of cartilage matrix protein and von Willebrand factor.
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| Koller E, et al.
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| EMBO J 8 : 1073-1077. 1989
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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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