| 1 | COL4A3, COL4A4, DEL2QO, TRIP12
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| Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
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| Doco-Fenzy M, Landais E, Andrieux J, Schneider A, Delemer B, Sulmont V, Melin JP, Ploton D, Thevenard J, Monboisse JC, Belouadah M, Lefebvre F, Durlach A, Goossens M, Albuisson J, Motte J, Gaillard D.
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| Eur J Med Genet 51(6):598-607. Epub 2008 Sep 6. 2008
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| 2 | COL4A3, COL4A3BP
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| Goodpasture antigen-binding protein is a soluble exportable protein that interacts with type IV collagen. Identification of novel membrane-bound isoforms.
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| Revert F, Ventura I, Martínez-Martínez P, Granero-Moltó F, Revert-Ros F, Macías J, Saus J.
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| J Biol Chem 283(44):30246-55. Epub 2008 Sep 4.PMID: 18772132 2008
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| 3 | ATS2, ATS3, COL4A3
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| Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.
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| Cook C, Friedrich CA, Baliga R.
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| Am J Kidney Dis 51(5):e25-8. Epub 2008 Apr 2.PMID: 18436078 2008
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| 4 | COL4A3, COL4A4, FBH
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| COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
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| Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C.
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| J Am Soc Nephrol 18(11):3004-16. Epub 2007 Oct 17.PMID: 17942953 2007
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| 5 | ATS2, ATS3, COL4A3, COL4A4, FBH
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| Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
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| Rana K, Tonna S, Wang YY, Sin L, Lin T, Shaw E, Mookerjee I, Savige J.
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| Pediatr Nephrol 22(5):652-7. Epub 2007 Jan 10.PMID: 17216251 2007
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| 6 | COL4A3
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| Tumstatin, the NC1 domain of alpha3 chain of type IV collagen, is an endogenous inhibitor of pathological angiogenesis and suppresses tumor growth.
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| Hamano Y, Kalluri R.
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| Biochem Biophys Res Commun 333(2):292-8. Review. 2005
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| 7 | COL4A3, FBH
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| COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).
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| Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J.
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| Kidney Int 65(3):786-90. 2004
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| 8 | COL18A1, COL4A3
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| Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha vbeta 3 and alpha 5beta 1 integrins.
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| Sudhakar A, Sugimoto H, Yang C, Lively J, Zeisberg M, Kalluri R.
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| Proc Natl Acad Sci U S A 100(8):4766-71. 2003
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| 9 | COL4A3
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| Tumstatin, an endothelial cell-specific inhibitor of protein synthesis.
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| Maeshima Y, Sudhakar A, Lively JC, Ueki K, Kharbanda S, Kahn CR, Sonenberg N, Hynes RO, Kalluri R.
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| Science 295(5552):140-3. 2002
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| 10 | COL4A3, COL4A4
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| Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
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| Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R.
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| J Am Soc Nephrol 13(5):1248-54. 2002
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| 11 | 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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| 12 | COL4A3, COL4A4
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| Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36.
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| Momota R, et al.
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| FEBS Lett 424 : 11-16. 1998
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| 13 | 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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| 14 | 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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| 15 | COL4A3, COL4A4, ATS3
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| Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
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| Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP.
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| Nephrol Dial Transplant 12(8):1595-9. 1997
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| 16 | ATS2, COL4A3
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| Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.
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| Knebelmann B, et al.
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| Hum Mol Genet 4 : 675-679. 1995
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| 17 | COL4A3, ATS2, COL4A4
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| Autosomal recessive Alport syndrome : mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.
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| Ding J, et al.
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| J Am Soc Nephrol 5 : 1714-1717. 1995
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| 18 | COL4A3, ATS2
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| A COL4A3 gene mutation and post-transplant anti-alpha3(IV) collagen alloantibodies in Alport syndrome.
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| Kalluri R, et al.
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| Kidney Int 47 : 1199-1204. 1995
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| 19 | COL4A5, ATS1, COL4A3
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| COL4A5 gene deletion and production of post-transplant anti-alpha3(IV) collagen alloantibodies in Alport syndrome.
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| Kalluri R, et al.
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| Kidney Int 45 : 721-726. 1994
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| 20 | ATS2, COL4A3
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| Mutations in the type IV collagen alpha3 (COL4A3) gene in autosomal recessive Alport syndrome.
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| Lemmink HH, et al.
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| Hum Mol Genet 3 : 1269-1273. 1994
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| 21 | COL4A3
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| A PstI polymorphism in the 3' end of the human type IV collagen alpha 3 chain (COL4A3) gene.
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| Delbridge ML, et al.
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| Hum Mol Genet 2 : 1086. 1993
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| 22 | COL4A3, COL4A4
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| Colocalization of the genes for the alpha3(IV) and alpha4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.
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| Mariyama M, et al.
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| Genomics 13 : 809-813. 1992
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| 23 | COL4A3
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| Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha3 chain of type IV collagen.
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| Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A, Pusey CD.
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| J Clin Invest 89 : 592-601. 1992
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| 24 | COL4A3
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| Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction.
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| Quinones S, Bernal D, García-Sogo M, Elena SF, Saus J.
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| J Biol Chem 267(28):19780-4. Erratum in: J Biol Chem. 1994 Jun 24;269(25):17358. PMID: 140029 1992
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| 25 | COL4A3
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| Sequence and localization of a partial cDNA encoding the human alpha-3 chain of type IV collagen.
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| Morrison KE, et al.
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| Am J Hum Genet 49 : 545-554. 1991
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