| 1 | COL3A1, EDS4A
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| COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
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| Leistritz DF, Pepin MG, Schwarze U, Byers PH.
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| Genet Med enet Med. 2011 Jun 1. [Epub ahead of print]
2011
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| 2 | ADGRG1, COL3A1
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| G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination.
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| Luo R, Jeong SJ, Jin Z, Strokes N, Li S, Piao X.
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| Proc Natl Acad Sci U S A 108(31):12925-30. Epub 2011 Jul 18. 2011
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| 3 | COL3A1, FAN
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| Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
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| Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G.
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| Eur J Hum Genet 18(12):1315-1321. Epub 2010 Jul 21.PMID: 20648054 2010
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| 4 | COL3A1, EDS4A
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| Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.
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| Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, Usui Y, Nagata M, Ohtake A, Hagiwara K, Kanazawa M.
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| Intern Med 49(16):1797-800. Epub 2010 Aug 13.
2010
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| 5 | COL3A1, EDS4A
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| Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
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| Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Van Kien PK.
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| Eur J Hum Genet 17(11):1411-6. Epub 2009 May 20.PMID: 19455184 2009
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| 6 | COL3A1, EDS4A
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| A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.
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| Okamoto O, Ando T, Watanabe A, Sato F, Mimata H, Shimada T, Fujiwara S.
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| Arch Dermatol Res 300(9):525-9. Epub 2008 Sep 9.
2008
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| 7 | COL3A1
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| Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse.
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| Chen HY, Chung YW, Lin WY, Wang JC, Tsai FJ, Tsai CH.
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| Int J Gynaecol Obstet 103(1):55-8. Epub 2008 Aug 22.
2008
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| 8 | COL3A1, FAN
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| A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.
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| Lee ST, Kim JA, Jang SY, Kim DK, Kim JW, Ki CS.
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| Heart Vessels 23(2):144-8. Epub 2008 Apr 4.
2008
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| 9 | COL4A4, COL4A5, COL3A1
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| Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
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| Nagel M, Nagorka S, Gross O.
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| Hum Mutat 26(1):60. 2005
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| 10 | COL3A1
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| Multiple proteins are involved in the protein-DNA complex in the proximal promoter of the human alpha1(III) collagen gene (COL3A1).
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| Yoshino T, Sumiyoshi H, Shin T, Matsuo N, Inagaki Y, Ninomiya Y, Yoshioka H.
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| Biochim Biophys Acta 1729(2):94-104. 2005
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| 11 | ITGA1, ITGB1, ITGA2, COL3A1
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| A novel binding site in collagen type III for integrins alpha1beta1 and alpha2beta1.
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| Kim JK, Xu Y, Xu X, Keene DR, Gurusiddappa S, Liang X, Wary KK, Hook M.
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| J Biol Chem 280(37):32512-20. Epub 2005 Jul 21. 2005
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| 12 | COL3A1
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| RNA-binding proteins heterogeneous nuclear ribonucleoprotein A1, E1, and K are involved in post-transcriptional control of collagen I and III synthesis.
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| Thiele BJ, Doller A, Kahne T, Pregla R, Hetzer R, Regitz-Zagrosek V.
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| Circ Res 95(11):1058-66. Epub 2004 Oct 28. 2004
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| 13 | COL3A1
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| Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse.
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| Chou HT, Hung JS, Chen YT, Wu JY, Tsai FJ.
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| Int J Cardiol 95(2-3):299-305. 2004
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| 14 | COL3A1, COL5A1
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| Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.
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| Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M.
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| J Biol Chem 279(18):18157-68. Epub 2004 Feb 17. 2004
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| 15 | COL3A1, EDS4A
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| Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
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| Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.
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| Am J Hum Genet 69(5):989-1001. 2001
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| 16 | COL3A1, EDS4A
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| Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
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| Pepin M, Schwarze U, Superti-Furga A, Byers PH.
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| N Engl J Med 342(10):673-80. 2000
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| 17 | 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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| 18 | COL3A1
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| A glycine (415))-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
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| Anderson DW, et al.
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| Hum Mutat 9 : 62-63. 1997
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| 19 | COL1A1, COL1A2, COL2A1, COL3A1, COL9A1, COL10A1
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| Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
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| Kuivaniemi H, Tromp G, Prockop DJ.
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| Hum Mutat 9 : 300-315. 1997
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| 20 | COL3A1, EDS4A
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| Recurrent COL3A1 mutation results in EDS IV or familial aneurysms.
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| Anderson DW, et al.
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| Hum Mutat 9 : 475. 1997
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| 21 | COL3A1, FRA2G, NEB
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| Assignment of the human nebulin gene (NEB) to chromosome band 2q24.2 and the alpha 1 (III) collagen gene (COL3A1) to chromosome band 2q32.2 by in situ hybridization; the FRA2G common fragile site lies between the two genes in the 2q31 band.
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| Limongi MZ, Pelliccia F, Rocchi A.
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| Cytogenet Cell Genet 77(3-4):259-60. 1997
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| 22 | COL3A1, EDS4A
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| Splicing defects in the COL3A1 gene : marked preference for 5' (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
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| Schwarze U, Goldstein JA, Byers PH.
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| Am J Hum Genet 61(6):1276-86. 1997
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| 23 | COL3A1, EDS4A
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| A novel G499D substitution in the alpha1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
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| McGrory J, et al.
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| Hum Mutat 7 : 59-60. 1996
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| 24 | EDS4A, COL3A1
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| Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III : clinical features, biochemical screening, and molecular confirmation.
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| Mackay K, et al.
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| Clin Genet 49 : 286-295. 1996
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| 25 | ACR, COL3A1, EDS4A, FAN
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| COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.
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| Pope FM, et al.
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| Br J Dermatol 135 : 163-181. 1996
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| 26 | COL3A1, EDS4A
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| Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.
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| McGrory J, et al.
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| Clin Genet 50 : 442-445. 1996
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| 27 | COL3A1, EDS4A
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| Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
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| Tromp G, et al.
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| Hum Mutat 5 : 179-181. 1995
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| 28 | EDS4A, COL3A1
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| Ehlers-Danlos syndrome type IV : a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.
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| Kuivaniemi H, et al.
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| J Invest Dermatol 105 : 352-356. 1995
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| 29 | EDS4A, COL3A1
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| Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.
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| Thakker-Varia S, et al.
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| Hum Mutat 6 : 116-125. 1995
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| 30 | EDS4A, COL3A1
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| Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
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| Madhatheri SL, et al.
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| Hum Mol Genet 3 : 511-512. 1994
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| 31 | COL3A1
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| Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
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| Tiller GE, et al.
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| Genomics 20 : 275-277. 1994
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| 32 | EDS4A, COL3A1
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| Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
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| Nuytinck L, et al.
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| Hum Mutat 3 : 268-274. 1994
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| 33 | EDS3, COL3A1
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| A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.
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| Narcisi P, et al.
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| Hum Mol Genet 3 : 1617-1620. 1994
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| 34 | EDS4A, COL3A1
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| Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV. (abstr)
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| Richards AJ, et al.
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| Hum Mol Genet 3 : 1901-1902. 1994
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| 35 | EDS4A, COL3A1
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| Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
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| Narcisi P, et al.
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| Am J Med Genet 46 : 278-283. 1993
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| 36 | EDS4A, COL3A1
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| A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
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| Lloyd J, et al.
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| J Med Genet 30 : 376-380. 1993
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| 37 | FAN, COL3A1
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| Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.
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| Tromp G, et al.
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| J Clin Invest 91 : 2539-2545. 1993
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| 38 | EDS4A, COL3A1
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| Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
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| McGookey Milewicz D, et al.
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| Am J Hum Genet 53 : 62-70. 1993
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| 39 | COL3A1, EDS4A
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| The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
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| Richards A, et al.
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| J Med Genet 30 : 690-693. 1993
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| 40 | COL3A1, EDS4A
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| Characterization of a glycine 769 to serine substitution in collagen type III in a three generation family with atypical EDS IV.
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| De Paepe A, et al.
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| Am J Hum Genet 53 : 1150. 1993
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| 41 | COL3A1, EDS4A
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| Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome : the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
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| Kontusaari S, et al.
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| Am J Hum Genet 51 : 497-507. 1992
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| 42 | COL3A1
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| A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3.
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| Mays PK, et al.
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| Matrix 11 : 44-49. 1992
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| 43 | EDS4A, COL3A1
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| Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
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| Richards AJ, et al.
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| J Med Genet 28 : 458-463. 1991
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| 44 | COL3A1, FUCA1P
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| Assignment of the fucosidase pseudogene FUCA1P to chromosome region 2q31-q32.
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| Coucke P, et al.
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| Cytogenet Cell Genet 57 : 120-122. 1991
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| 45 | COL3A1
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| C to T polymorphism in exon 33 of the COL3A1 gene.
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| Tromp G, et al.
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| Nucleic Acids Res 19 : 681. 1991
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| 46 | EDS4A, COL3A1
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| Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome IV.
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| Kuivaniemi H, et al.
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| J Biol Chem 265 : 12067-12074. 1990
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| 47 | COL3A1, COL5A2
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| Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.
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| Cutting GR, et al.
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| Genomics 8 : 407-410. 1990
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| 48 | COL3A1
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| G to A polymorphism in exon 31 of the COL3A1 gene.
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| Zafarullah K, et al.
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| Nucleic Acids Res 18 : 6180. 1990
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| 49 | COL3A1, FAN
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| A single base mutation in the type III procollagen gene (COL3A1) on chromosome 2q that causes familial aneurysms.
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| Kontusaari S, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1024-1025. 1989
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| 50 | EDS4A, COL3A1
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| Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.
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| Nicholls AC, De Paepe A, Narcisi P, Dalgleish R, De Keyser F, Matton M, Pope FM.
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| Hum Genet 78 : 276-281. 1988
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| 51 | COL3A1, EDS4A
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| Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
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| Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B.
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| J Biol Chem 263 : 6226-6232. 1988
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| 52 | COL3A1, COL5A2
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| Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.
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| Tsipouras P, et al.
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| Genomics 3 : 275-277. 1988
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| 53 | COL1A2, COL3A1
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| Exclusion of the alpha2(I) and alpha1(III) collagen genes as the mutant loci in a Marfan syndrome family.
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| Dalgleish R, et al.
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| J Med Genet 24 : 148-151. 1987
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| 54 | COL3A1, COL2A1
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| Further evidence for the dispersion of the human fibrillar collagen genes.
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| Huerre-Jeanpierre C, Mattei MG, Weil D, Grzeschik KH, Chu ML, Sangiorgi FO, Sobel ME, Ramirez F, Junien C.
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| Am J Hum Genet 38 : 26-37. 1986
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| 55 | COL3A1, COL5A2
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| The pro alpha 2 (V) collagen gene (COL5A2) maps to 2q14-2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1)
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| Huerre-Jeanpierre C, Henry I, Bernard M, Gallano P, Weil D, Grzeschik KH, Ramirez F, Junien C.
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| Hum Genet 73 : 64-67. 1986
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| 56 | COL3A1
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| Human collagen III (COL3A1) is on chromosome 2q.
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| Mudryj M, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 704. 1985
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| 57 | COL3A1, COL4A1, COL4A2
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| Chromosomal assignments of the genes coding for human types II, III and IV collagen : a dispersed gene family.
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| Solomon E, et al.
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| Proc Natl Acad Sci U S A 82 : 3330-3334. 1985
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| 58 | COL3A1, COL4A1, COL4A2
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| Human type III collagen (COL3A1) is on chromosome 2 and type IVcollagen (COL4A1) on chromosome 13.
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| Solomon E, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 749. 1985
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| 59 | COL3A1, COL5A2
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| Human alpha-1 (III) and alpha-2 (V) procollagen genes are located on the long arm of chromosome 2.
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| Emanuel BS, et al.
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| Proc Natl Acad Sci U S A 82 : 3385-3389. 1985
|