| 1 | ATSDL, COL4A5, COL4A6
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| Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.
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| Oohashi T, Naito I, Ueki Y, Yamatsuji T, Permpoon R, Tanaka N, Naomoto Y, Ninomiya Y.
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| Matrix Biol 30(1):3-8. Epub 2010 Oct 14.
2011
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| 2 | COL4A6, COL4A5
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| Loss of expression of type IV collagen alpha5 and alpha6 chains in colorectal cancer associated with the hypermethylation of their promoter region.
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| Ikeda K, Iyama K, Ishikawa N, Egami H, Nakao M, Sado Y, Ninomiya Y, Baba H.
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| Am J Pathol 168(3):856-65. 2006
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| 3 | 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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| 4 | ATSDL, COL4A5, COL4A6
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| LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
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| Segal Y, et al.
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| Am J Hum Genet 64 : 62-69. 1999
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| 5 | ATS1, ATSDL, COL4A5, COL4A6
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| Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
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| Ueki Y, et al.
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| Am J Hum Genet 62 : 253-261. 1998
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| 6 | 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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| 7 | 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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| 8 | ATSDL, COL4A5, COL4A6
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| Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
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| Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper MJ, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler MC, Antignac C.
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| Cytogenet Cell Genet 78(3-4):240-6. 1997
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| 9 | COL4A6
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| Structure of the human type IV collagen COL4A6 gene, which is mutated inAlport syndrome-associated leiomyomatosis.
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| Zhang X, et al.
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| Genomics 33 : 473-479. 1996
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| 10 | COL4A1, COL4A5, COL4A6
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| Comparative distribution of the alpha1(IV), alpha5(IV) and alpha6(IV) collagen chains in normal human adult and fetal tissues and in Kidneys from X-linked Alport syndrome patients.
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| Peissel B, et al.
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| J Clin Invest 96 : 1948-1957. 1995
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| 11 | COL4A5, COL4A6
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| Isolation and structure of the COL4A6 gene encoding the human alpha6(IV)collagen chain and comparison with other type IV collagen genes.
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| Oohashi T, et al.
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| J Biol Chem 270 : 26863-26867. 1995
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| 12 | COL4A5, COL4A6
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| YAC contigs mapping the human COL4A5 and COL46 genes and DXS118 within Xq21.3-q22.
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| Srivastava AK, et al.
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| Genomics 26 : 502-509. 1995
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| 13 | ATS1, ATSDL, COL4A5, COL4A6
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| Deletions of both alpha5(IV) and alpha6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
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| Heidet L, et al.
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| Hum Mol Genet 4 : 99-108. 1995
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| 14 | COL4A6
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| Identification of a new collagen IV chain, alpha6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5.
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| Oohashi T, et al.
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| J Biol Chem 269 : 7520-7526. 1994
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| 15 | COL4A6
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| Complete primary structure of the sixth chain of human basement membrane collagen, alpha6(IV).
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| Zhou J, et al.
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| J Biol Chem 269 : 13193-13199. 1994
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| 16 | ATSDL, COL4A5, COL4A6
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| Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
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| Renieri A, et al.
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| Hum Mutat 4 : 195-198. 1994
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| 17 | COL4A6
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| A BglII polymorphism in the COL4A6 gene.
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| Renieri A, et al.
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| Hum Mol Genet 3 : 1914. 1994
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| 18 | COL4A5, COL4A6
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| The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha5(IV) and alpha6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters.
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| Sugimoto M, et al.
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| Proc Natl Acad Sci U S A 91 : 11679-11683. 1994
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| 19 | ATSDL, COL4A5, COL4A6
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| Deletion of the paired alpha5(IV) and alpha6-IV) collagen genes in inherited smooth muscle tumors.
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| Zhou J, et al.
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| Science 261 : 1167-1169. 1993
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