1 | COL4A1, COL4A2
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| Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
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| Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK.
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| BMC Biol 14:59. doi: 10.1186/s12915-016-0281-2. Erratum in: BMC Biol. 2016;14:73.
2016
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2 | COL4A1, COL4A2
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| Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
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| Jeanne M, Jorgensen J, Gould DB.
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| Circulation 131(18):1555-65. doi: 10.1161/CIRCULATIONAHA.114.013395. Epub 2015 Mar 9.
2015
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3 | COL4A1, COL4A2
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| A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
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| Xia XY, Li N, Cao X, Wu QY, Li TF, Zhang C, Li WW, Cui YX, Li XJ, Xue CY.
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| BMC Med Genet 15:97. doi: 10.1186/s12881-014-0097-2.
2014
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4 | COL4A1, COL4A2, COSS
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| COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke.
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| Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB.
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| Am J Hum Genet 90(1):91-101. Epub 2011 Dec 29. 2012
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5 | COL4A1, COL4A2, PRCF
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| De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly.
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| Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H.
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| Am J Hum Genet 90(1):86-90. Epub 2011 Dec 29. 2012
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6 | COL4A2, PRCF
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| COL4A2 mutation associated with familial porencephaly and small-vessel disease.
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| Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.
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| Eur J Hum Genet 20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.
2012
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7 | COL4A1, COL4A2, COSS
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| COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
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| Kuo DS, Labelle-Dumais C, Gould DB.
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| Hum Mol Genet 21(R1):R97-110. Epub 2012 Aug 21. Review.
2012
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8 | COL4A1, COL4A2
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| Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
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| Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M.
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| Mol Vis 17:827-43.
2011
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9 | COL4A1, COL4A2, COSS
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| Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.
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| Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A.
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| Curr Med Chem 17(13):1317-24. Review. 2010
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10 | COL4A2
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| Mechanism of chain selection in the assembly of collagen IV: a prominent role for the alpha2 chain.
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| Khoshnoodi J, Sigmundsson K, Cartailler JP, Bondar O, Sundaramoorthy M, Hudson BG.
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| J Biol Chem 281(9):6058-69. Epub 2005 Dec 22.
2006
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11 | COL4A2
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| The C-terminal domain of canstatin suppresses in vivo tumor growth associated with proliferation of endothelial cells.
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| He GA, Luo JX, Zhang TY, Hu ZS, Wang FY.
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| Biochem Biophys Res Commun 318(2):354-60. 2004
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12 | COL4A2
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| The NC1 domain of human collagen IV is necessary to initiate triple helix formation.
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| Soder S, Poschl E.
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| Biochem Biophys Res Commun 325(1):276-80. 2004
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13 | COL4A2, COL4A3, COL4A6
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| New functions for non-collagenous domains of human collagen type IV. Novel integrin ligands inhibiting angiogenesis and tumor growth in vivo.
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| Petitclerc E, Boutaud A, Prestayko A, Xu J, Sado Y, Ninomiya Y, Sarras MP Jr, Hudson BG, Brooks PC.
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| J Biol Chem 275(11):8051-61. 2000
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14 | COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
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| Expression of the alpha1-alpha6 collagen IV chains in the dermoepidermal junction during human foetal skin development : temporal and spatial expression of the alpha4 collagen IV chain in an early stage of development.
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| Tanaka N, et al.
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| Br J Dermatol 139 : 371-374. 1998
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15 | ATS1, ATS2, ATSDL, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
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| The clinical spectrum of type IV collagen mutations.
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| Lemmink HH, Schroder CH, Monnens LA, Smeets HJ.
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| Hum Mutat 9(6):477-99. Review. 1997
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16 | ATS2, COL4A2
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| Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
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| Lemmink HH, et al.
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| J Clin Invest 98 : 1114-1118. 1996
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17 | COL4A1, COL4A2
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| The genes coding for human pro îI(IV) collagen and pro î2(IV) collagen are both located at the end of the long arm of chromosome 13.
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| Boyd CD, et al.
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| Am J Hum Genet 42 : 309-314. 1988
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18 | COL4A1, COL4A2
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| The genes for the î1(IV) and î2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure.
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| Pšschl E, et al.
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| EMBO J 7 : 2687-2695. 1988
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19 | COL4A1, COL4A2
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| Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.
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| Cutting GR, et al.
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| Genomics 3 : 256-263. 1988
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20 | COL4A1, COL4A2
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| Molecular cloning and chromosomal localization of the human 2(IV) collagen chain.
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| Killen PD, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 639. 1987
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21 | COL4A1, COL4A2, D13S3
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| Linkage of markers at 13q34; the pro alpha 1 (IV) and pro alpha 2 (IV) collagen genes and D13S3.
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| Bowcock AM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 585. 1987
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22 | COL4A1, COL4A2
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| Macrorestriction analysis maps COL4A1 and COL4A2 collagen genes within a 400 KB region on chromosome 13q34.
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| Cutting GR, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 601. 1987
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23 | COL4A1, COL4A2
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| The genes coding for human pro î-1(IV) (COL4A1) and pro î-2(IV) (COL4A2) collagen are both located at the terminal end of the long arm of chromosome 13.
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| Gadi IK, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 617. 1987
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24 | COL4A1, COL4A2
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| The human alpha2(IV) collagen gene, COL4A2, is syntenic with the alpha1(IV) gene, COL4A1, on chromosome 13.
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| Solomon E, et al.
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| Ann Hum Genet 51 : 125-127. 1987
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25 | COL4A1, COL4A2
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| A HindIII polymorphism in the 3' end of the human 01(IV) collagen gene.
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| Tikka L, et al.
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| Nucleic Acids Res 15 : 5497. 1987
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26 | COL4A1, COL4A2, D13S3
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| The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q.
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| Bowcock AM, et al.
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| Cytogenet Cell Genet 45 : 234-236. 1987
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27 | COL4A1, COL4A2
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| Partial structure of the human î2(IV) collagen chain and chromosomal localization of the gene (COL4A2).
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| Killen PD, et al.
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| Hum Genet 77 : 318-324. 1987
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28 | COL4A1, COL4A2
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| Human collagen genes encoding basement menbrane alpha1(IV) and alpha2(IV) chains map to the distal long arm of chromosome 13.
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| Griffin CA, et al.
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| Proc Natl Acad Sci U S A 84 : 512-516. 1987
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29 | COL4A1, COL4A2
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| Localization of the human procollagen alpha1(IV) gene to chromosome 13q34 by in situ hybridization.
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| Emanuel BS, et al.
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| Am J Hum Genet 38 : 38-44. 1986
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30 | COL4A1, COL4A2
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| The single copy gene coding for human alpha1(IV) procollagen is located at the terminal end of the long arm of chromosome 13.
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| Boyd CD, et al.
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| Hum Genet 74 : 121-125. 1986
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31 | COL1A2, COL4A1, COL4A2
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| Chromosomal mapping of collagen-genes by low stringency in situ hybridization.
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| Retief AE, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 730. 1985
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32 | 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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33 | 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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