| 1 | ATS1, COL4A5
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| X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
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| Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C; Hellenic Nephrogenetics Research Consortium.
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| Clin Genet 81(3):240-8. doi: 10.1111/j.1399-0004.2011.01647.x. Epub 2011 Mar 13.
2012
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| 2 | ATSDL, COL4A5, SLIT1
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| Assembly of lamina-specific neuronal connections by slit bound to type IV collagen.
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| Xiao T, Staub W, Robles E, Gosse NJ, Cole GJ, Baier H.
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| Cell 146(1):164-76. 2011
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| 3 | 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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| 4 | ATS1, COL4A5
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| The Alport syndrome COL4A5 variant database.
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| Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E.
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| Hum Mutat 31(8):E1652-7.
2010
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| 5 | ATS1, COL4A5
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| Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.
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| Tan R, Colville D, Wang YY, Rigby L, Savige J.
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| Clin J Am Soc Nephrol 5(1):34-8. Epub 2009 Dec 3.
2010
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| 6 | ATS1, COL4A5
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| Atypical Alport syndrome associated with a novel COL4A5 mutation.
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| Höpker K, Liebau MC, Friederichsohn C, Waldherr R, Benzing T.
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| Clin Nephrol 71(3):321-5. Erratum in: Clin Nephrol. 2010 Feb;73(2):172.
2009
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| 7 | COL4A5
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| Mutational analysis of type IV collagen alpha5 chain, with respect to heterotrimer formation.
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| Kobayashi T, Kakihara T, Uchiyama M.
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| Biochem Biophys Res Commun 366(1):60-5. Epub 2007 Dec 18.
2008
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| 8 | ATS1, COL4A5
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| MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
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| Hertz JM, Juncker I, Marcussen N.
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| Clin Genet 74(6):522-30. Epub 2008 Jun 26.
2008
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| 9 | 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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| 10 | 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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| 11 | COL4A5
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| Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
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| Wang F, Wang Y, Ding J, Yang J.
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| Kidney Int 67(4):1268-74. 2005
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| 12 | COL4A5
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| A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
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| Arrondel C, Deschenes G, Le Meur Y, Viau A, Cordonnier C, Fournier A, Amadeo S, Gubler MC, Antignac C, Heidet L.
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| Kidney Int 65(6):2030-40. 2004
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| 13 | AMME, COL4A5
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| Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).
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| Meloni I, Vitelli F, Pucci L, Lowry RB, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G, Kashtan CE, Pober B, Renieri A.
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| J Med Genet 39(5):359-65. No abstract available. 2002
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| 14 | ATS1, COL4A5
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| Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
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| Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.
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| Hum Mutat 18(2):141-8. 2001
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| 15 | COL4A5
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| Abnormal glomerular basement membrane laminins in murine, canine, and human Alport syndrome: aberrant laminin alpha2 deposition is species independent.
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| Kashtan CE, Kim Y, Lees GE, Thorner PS, Virtanen I, Miner JH.
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| J Am Soc Nephrol 12(2):252-60. 2001
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| 16 | ATSDL, COL4A5, COL4A6
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| LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
|
| Segal Y, et al.
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| Am J Hum Genet 64 : 62-69. 1999
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| 17 | 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.
|
| Ueki Y, et al.
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| Am J Hum Genet 62 : 253-261. 1998
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| 18 | 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.
|
| Tanaka N, et al.
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| Br J Dermatol 139 : 371-374. 1998
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| 19 | ATS1, ATS2, ATSDL, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
|
| The clinical spectrum of type IV collagen mutations.
|
| Lemmink HH, Schroder CH, Monnens LA, Smeets HJ.
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| Hum Mutat 9(6):477-99. Review. 1997
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| 20 | AGMX1, COL4A5
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| A complete YAC contig and cosmid interval map covering the entirety of human Xq21.33 to Xq22.3 from DXS3 to DXS287.
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| Kendall E, Evans W, Jin H, Holland J, Vetrie D.
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| Genomics 43(2):171-82. 1997
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| 21 | 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.
|
| 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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| 22 | COL4A5, ATS1
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| Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
|
| Tverskaya S, et al.
|
| Hum Mutat 7 : 149-150. 1996
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| 23 | ATS1, COL4A5
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| A mutation causing Alport syndrome with tardive hearing loss is common in the Western United States.
|
| Barker DF, et al.
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| Am J Hum Genet 58 : 1157-1165. 1996
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| 24 | ATS1, COL4A5
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| X-linked Alport syndrome : an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
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| Renieri A, et al.
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| Am J Hum Genet 58 : 1192-1204. 1996
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| 25 | ATS1, COL4A5
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| Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6 : a study of 250 patients with hematuria and suspected of having Alport syndrome.
|
| Heiskari N, et al.
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| J Am Soc Nephrol 7 : 702-709. 1996
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| 26 | ATS1, COL4A5
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| Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome.
|
| Naito I, et al.
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| Kidney Int 50 : 304-311. 1996
|
| 27 | ATS1, COL4A5
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| Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome.
|
| HŠmŠlŠinen ER, et al.
|
| Hum Mutat 8 : 265-269. 1996
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| 28 | ATS1, COL4A5
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| A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient.
|
| Kawai S, et al.
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| Nephron 74 : 333-336. 1996
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| 29 | COL4A1, COL4A5, COL4A6
|
| 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.
|
| Peissel B, et al.
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| J Clin Invest 96 : 1948-1957. 1995
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| 30 | ATS1, COL4A5
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| Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
|
| Renieri A, et al.
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| Am J Med Genet 59 : 380-385. 1995
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| 31 | ATS1, COL4A5
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| A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
|
| Turco AE, et al.
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| Clin Genet 48 : 261-263. 1995
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| 32 | 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.
|
| Oohashi T, et al.
|
| J Biol Chem 270 : 26863-26867. 1995
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| 33 | ATS1, COL4A5
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| A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
|
| Hertz JM, et al.
|
| Kidney Int 47 : 327-332. 1995
|
| 34 | COL4A5, ATS1
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| Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
|
| Boye E, et al.
|
| Hum Mutat 5 : 197-204. 1995
|
| 35 | COL4A5, COL4A6
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| YAC contigs mapping the human COL4A5 and COL46 genes and DXS118 within Xq21.3-q22.
|
| Srivastava AK, et al.
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| Genomics 26 : 502-509. 1995
|
| 36 | ATS1, COL4A5
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| Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
|
| Guo C, et al.
|
| J Clin Invest 95 : 1832-1837. 1995
|
| 37 | COL4A5
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| A highly informative BamHI RFLP in the type IV collagen alpha5 chain gene (COL4A5).
|
| Chan SY, et al.
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| Clin Genet 47 : 276-277. 1995
|
| 38 | COL4A5
|
| A Taql RFLP in the type IV collagen alpha5 chain gene (COL4A5) with the rare allele more frequently found in seven Chinese Alport syndrome patients.
|
| Chan SY, et al.
|
| Clin Genet 47 : 278-279. 1995
|
| 39 | ATS1, ATSDL, COL4A5, COL4A6
|
| Deletions of both alpha5(IV) and alpha6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
|
| Heidet L, et al.
|
| Hum Mol Genet 4 : 99-108. 1995
|
| 40 | ATS1, COL4A5
|
| Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
|
| Renieri A, et al.
|
| Hum Mol Genet 3 : 201-202. 1994
|
| 41 | COL4A5, ATS1
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| Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
|
| Lemmink HH, et al.
|
| Hum Mol Genet 3 : 317-322. 1994
|
| 42 | ATS1, COL4A5
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| Deletions in the COL4A5 collagen gene in X-linked Alport syndrome.
|
| Antignac C, et al.
|
| J Clin Invest 93 : 1195-1207. 1994
|
| 43 | COL4A5
|
| Structure of the human type IV collagen COL4A5 gene.
|
| Zhou J, et al.
|
| J Biol Chem 269 : 6608-6614. 1994
|
| 44 | COL4A5, ATS1, COL4A3
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| COL4A5 gene deletion and production of post-transplant anti-alpha3(IV) collagen alloantibodies in Alport syndrome.
|
| Kalluri R, et al.
|
| Kidney Int 45 : 721-726. 1994
|
| 45 | ATS1, COL4A5
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| A novel frameshift deletion in type IV collagen alpha5 gene in a juvenile-type Alport syndrome patient : an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
|
| Peissel B, et al.
|
| Hum Mutat 3 : 386-390. 1994
|
| 46 | COL4A5, ATS1
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| A deletion mutation in the 3' end of the alpha5(IV) collagen gene in juvenile-onset Alport syndrome.
|
| Saito A, et al.
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| J Am Soc Nephrol 4 : 1649-1653. 1994
|
| 47 | 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.
|
| Renieri A, et al.
|
| Hum Mutat 4 : 195-198. 1994
|
| 48 | COL4A5, COL4A6
|
| 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.
|
| Sugimoto M, et al.
|
| Proc Natl Acad Sci U S A 91 : 11679-11683. 1994
|
| 49 | COL4A5
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| Mutations in the COL4A5 gene in Alport syndrome : a possible mutation in primordial germ cells.
|
| Nakazato H, et al.
|
| Kidney Int 46 : 1307-1314. 1994
|
| 50 | DXS17, DXS24, DXS54, DXS83, DXS87, DXS94, DXS147, DXS178, DXS211, PLP1, COL4A5
|
| Pulsed-field gel electrophoresis and radiation hybrid mapping analyses enable the ordering of eleven DNA loci in Xq22.
|
| O'Reilly MAJ, et al.
|
| Genomics 15 : 275-282. 1993
|
| 51 | ATS1, COL4A5
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| Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome.
|
| Zhou J, et al.
|
| Kidney Int 43 : 722-729. 1993
|
| 52 | ATS1, COL4A5
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| COL4A5 splice site mutation and alpha-5(IV) collagen mRNA in Alport syndrome.
|
| Netzer KO, et al.
|
| Kidney Int 43 : 486-492. 1993
|
| 53 | ATS1, COL4A5
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| Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.
|
| Renieri A, et al.
|
| Hum Genet 92 : 417-420. 1993
|
| 54 | ATS1, COL4A5
|
| Identification of a single base insertion in the COL4A5 gene in Alport syndrome.
|
| Nakazato H, et al.
|
| Kidney Int 44 : 1091-1096. 1993
|
| 55 | ATS1, COL4A5
|
| Differential splicing of COL4A5 mRNA in kidney and white blood cells : a complex mutation in the COL4A5 gene of an alport patient deletes the NC1 domain.
|
| Guo C, et al.
|
| Kidney Int 44 : 1316-1321. 1993
|
| 56 | ATSDL, COL4A5, COL4A6
|
| Deletion of the paired alpha5(IV) and alpha6-IV) collagen genes in inherited smooth muscle tumors.
|
| Zhou J, et al.
|
| Science 261 : 1167-1169. 1993
|
| 57 | COL4A5, ATS1
|
| An 8bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient.
|
| Boye E, et al.
|
| Hum Mol Genet 2 : 595-596. 1993
|
| 58 | COL4A5, ATS1
|
| A splicing mutation in the alpha5(IV) collagen gene of a family with Alport's syndrome.
|
| Nomura S, et al.
|
| Kidney Int 43 : 1116-1124. 1993
|
| 59 | COL4A5, ATS1
|
| Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
|
| Lemmink HH, et al.
|
| Genomics 17 : 485-489. 1993
|
| 60 | COL4A5
|
| Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22.
|
| Barker DF, et al.
|
| Nucleic Acids Res 20 : 929. 1992
|
| 61 | COL4A5
|
| Long-range mapping of the gene for the human alpha-5(IV) collagen chain at Xq22-q23.
|
| Vetrie D, et al.
|
| Genomics 12 : 130-138. 1992
|
| 62 | ATS1, COL4A5
|
| De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
|
| Renieri A, et al.
|
| Hum Mol Genet 1 : 127-129. 1992
|
| 63 | ATS1, COL4A5
|
| Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
|
| Smeets HJM, et al.
|
| Kidney Int 42 : 83-88. 1992
|
| 64 | COL4A5, ATS1
|
| Complete aminoacid sequence of the human alpha5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
|
| Zhou J, et al.
|
| J Biol Chem 267 : 12475-12481. 1992
|
| 65 | COL4A5, ATS1
|
| Substitution of arginine for glycine 325 in the collagen alpha5(IV) chain associated with X-linked Alport syndrome : characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
|
| Knebelmann B, et al.
|
| Am J Hum Genet 51 : 135-142. 1992
|
| 66 | ATS1, ATSDL, COL4A5
|
| Alport syndrome (AS) and diffuse leiomyomatosis : deletions in the 5' end of the COL4A5 collagen gene.
|
| Antignac C, et al.
|
| Kidney Int 42 : 1178-1183. 1992
|
| 67 | ATS1, COL4A5
|
| DNA rearrangements in the alpha5(IV) collagen gene (COL4A5) of individuals with Alport syndrome : further refinement using pulsed-field gel electrophoresis.
|
| Vetrie D, et al.
|
| Genomics 14 : 624-633. 1992
|
| 68 | COL4A5
|
| Construction of a yeast artificial chromosome contig encompassing the human alpha5(IV) collagen gene (COL4A5).
|
| Vetrie D, et al.
|
| Genomics 14 : 634-642. 1992
|
| 69 | COL4A5
|
| Deletions of the COL4A5 gene in patients with Alport syndrome.
|
| Netzer KO, et al.
|
| Kidney Int 42 : 1336-1344. 1992
|
| 70 | COL4A5
|
| Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome.
|
| Zhou J, et al.
|
| Genomics 9 : 1-9. 1991
|
| 71 | COL4A5
|
| Molecular cloning of alpha-5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.
|
| Myers JC, et al.
|
| Am J Hum Genet 46 : 1024-1033. 1990
|
| 72 | COL4A5, ATS1
|
| Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
|
| Barker DF, et al.
|
| Science 248 : 1224-1227. 1990
|
| 73 | COL4A5, ATS1
|
| Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.
|
| Hostikka SL, et al.
|
| Proc Natl Acad Sci U S A 87 : 1606-1610. 1990
|
| 74 | ATS1, COL4A5
|
| Alport syndrome caused by a 5' deletion within the COL4A5 gene.
|
| Renieri A, et al.
|
| Hum Genet 89 : 120-121. 1982
|