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Volumn 72, Issue 4, 2008, Pages 454-462

Linkage validation of RP25 using the 10K genechip array and further refinement of the locus by new linked families

Author keywords

Chromosome 6; Retinal disease gene; Retinitis pigmentosa; RP25 locus

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR RP 25;

EID: 45149125832     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2008.00448.x     Document Type: Article
Times cited : (11)

References (35)
  • 1
    • 29144523957 scopus 로고    scopus 로고
    • Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus
    • Abd El-Aziz, M. M., El-Ashry, M. F., Barragan, I., Marcos, I., Borrego, S., Antinolo, G. & Bhattacharya, S. S. (2005) Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. Curr Eye Res 30, 1081-1087.
    • (2005) Curr Eye Res , vol.30 , pp. 1081-1087
    • Abd El-Aziz, M.M.1    El-Ashry, M.F.2    Barragan, I.3    Marcos, I.4    Borrego, S.5    Antinolo, G.6    Bhattacharya, S.S.7
  • 5
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis, G. R., Cherny, S. S., Cookson, W. O. & Cardon, L. R. (2001b) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30, 97-101.
    • (2001) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 6
    • 0029049372 scopus 로고
    • Retinitis pigmentosa in Spain. The Spanish multicentric and multidisciplinary group for research into retinitis Pigmentosa
    • Ayuso, C., Garcia-Sandoval, B., Najera, C., Valverde, D., Carballo, M. & Antinolo, G. (1995) Retinitis pigmentosa in Spain. The Spanish multicentric and multidisciplinary group for research into retinitis Pigmentosa. Clin Genet 48, 120-122.
    • (1995) Clin Genet , vol.48 , pp. 120-122
    • Ayuso, C.1    Garcia-Sandoval, B.2    Najera, C.3    Valverde, D.4    Carballo, M.5    Antinolo, G.6
  • 7
    • 19644379058 scopus 로고    scopus 로고
    • Molecular analysis of RIMI in autosomal recessive retinitis pigmentosa
    • Barragan, I., Marcos, I., Borrego, S. & Antiñolo, G. (2005a) Molecular analysis of RIMI in autosomal recessive retinitis pigmentosa. Ophthalmic Res 37, 89-93.
    • (2005) Ophthalmic Res , vol.37 , pp. 89-93
    • Barragan, I.1    Marcos, I.2    Borrego, S.3    Antiñolo, G.4
  • 8
    • 33644873577 scopus 로고    scopus 로고
    • Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa
    • Barragan, I., Marcos, I., Borrego, S. & Antinolo, G. (2005b) Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. Int J Mol Med 16, 1163-1167.
    • (2005) Int J Mol Med , vol.16 , pp. 1163-1167
    • Barragan, I.1    Marcos, I.2    Borrego, S.3    Antinolo, G.4
  • 9
    • 45149113294 scopus 로고    scopus 로고
    • Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of novel VNTRs
    • Barragan, I., Borrego, S., Abd El-Aziz, M. M., El-Ashry, M. F., Abu-Safieh, L., Bhattacharya, S. S. & Antinolo, G. (2007) Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of novel VNTRs. Ann Hum Genet 71, 281-294.
    • (2007) Ann Hum Genet , vol.71 , pp. 281-294
    • Barragan, I.1    Borrego, S.2    Abd El-Aziz, M.M.3    El-Ashry, M.F.4    Abu-Safieh, L.5    Bhattacharya, S.S.6    Antinolo, G.7
  • 13
    • 4544335122 scopus 로고    scopus 로고
    • Guidelines for genotyping in genomewide linkage studies: Single-nucleotide-polymorphism maps versus microsatellite maps
    • Evans, D. M. & Cardon, L. R. (2004) Guidelines for genotyping in genomewide linkage studies: Single-nucleotide-polymorphism maps versus microsatellite maps. Am J Hum Genet 75, 687-692.
    • (2004) Am J Hum Genet , vol.75 , pp. 687-692
    • Evans, D.M.1    Cardon, L.R.2
  • 14
    • 27744590923 scopus 로고    scopus 로고
    • Gearing up for genome-wide gene-association studies
    • (Spec No. 2)
    • Farrall, M. & Morris, A. P. (2005) Gearing up for genome-wide gene-association studies. Hum Mol Genet 14 (Spec No. 2), R157-R162.
    • (2005) Hum Mol Genet , vol.14
    • Farrall, M.1    Morris, A.P.2
  • 15
    • 0031822951 scopus 로고    scopus 로고
    • Molecular genetics of human retinal dystrophies
    • Inglehearn, C. F. (1998) Molecular genetics of human retinal dystrophies. Eye 12, 571-579.
    • (1998) Eye , vol.12 , pp. 571-579
    • Inglehearn, C.F.1
  • 18
    • 0033365206 scopus 로고    scopus 로고
    • Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin
    • Khaliq, S., Hameed, A., Ismail, M., Mehdi, S. Q., Bessant, D. A., Payne, A. M. & Bhattacharya, S. S. (1999) Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. Am J Hum Genet 65, 571-574.
    • (1999) Am J Hum Genet , vol.65 , pp. 571-574
    • Khaliq, S.1    Hameed, A.2    Ismail, M.3    Mehdi, S.Q.4    Bessant, D.A.5    Payne, A.M.6    Bhattacharya, S.S.7
  • 19
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander, E. S. & Botstein, D. (1987) Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570.
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 20
    • 0034946654 scopus 로고    scopus 로고
    • Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus
    • Li, Y., Marcos, I., Borrego, S., Yu, Z., Zhang, K. & Antinolo, G. (2001) Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. J Med Genet 38, 478-480.
    • (2001) J Med Genet , vol.38 , pp. 478-480
    • Li, Y.1    Marcos, I.2    Borrego, S.3    Yu, Z.4    Zhang, K.5    Antinolo, G.6
  • 21
    • 85015920782 scopus 로고    scopus 로고
    • Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases
    • Marcos, I., Borrego, S. & Antinolo, G. (2003) Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases. Int J Mol Med 12, 983-987.
    • (2003) Int J Mol Med , vol.12 , pp. 983-987
    • Marcos, I.1    Borrego, S.2    Antinolo, G.3
  • 22
    • 0036952252 scopus 로고    scopus 로고
    • Cloning, characterization, and chromosome mapping of the human GlcAT-S gene
    • Marcos, I., Galan, J. J., Borrego, S. & Antinolo, G. (2002) Cloning, characterization, and chromosome mapping of the human GlcAT-S gene. J Hum Genet 47, 677-680.
    • (2002) J Hum Genet , vol.47 , pp. 677-680
    • Marcos, I.1    Galan, J.J.2    Borrego, S.3    Antinolo, G.4
  • 23
    • 0034200702 scopus 로고    scopus 로고
    • Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa (RP25)
    • Marcos, I., Ruiz, A., Blaschak, C. J., Borrego, S., Cutting, G. R. & Antiñolo, G. (2000) Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa (RP25). J Med Genet 37, E5.
    • (2000) J Med Genet , vol.37
    • Marcos, I.1    Ruiz, A.2    Blaschak, C.J.3    Borrego, S.4    Cutting, G.R.5    Antiñolo, G.6
  • 25
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell, J. R. & Weeks, D. E. (1998) PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63, 259-266.
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 26
    • 34247562652 scopus 로고    scopus 로고
    • Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis
    • Pomares, E., Marfany, G. Brion, M. J., Carracedo, A. & Gonzalez-Duarte, R. (2007) Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Hum Mutat 0, 1-6.
    • (2007) Hum Mutat , vol.0 , pp. 1-6
    • Pomares, E.1    Marfany, G.2    Brion, M.J.3    Carracedo, A.4    Gonzalez-Duarte, R.5
  • 27
    • 0031748893 scopus 로고    scopus 로고
    • A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain γ-aminobutyric acid-receptor clusters
    • Ruiz, A., Borrego, S., Marcos, I. & Antiñolo, G. (1998) A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain γ-aminobutyric acid-receptor clusters. Am J Hum Genet 62, 1452-1459.
    • (1998) Am J Hum Genet , vol.62 , pp. 1452-1459
    • Ruiz, A.1    Borrego, S.2    Marcos, I.3    Antiñolo, G.4
  • 28
    • 17444373392 scopus 로고    scopus 로고
    • ALOHOMORA: A tool for linkage analysis using 10K SNP array data
    • Ruschendorf, F. & Nurnberg, P. (2005) ALOHOMORA: A tool for linkage analysis using 10K SNP array data. Bioinformatics 21, 2123-2125.
    • (2005) Bioinformatics , vol.21 , pp. 2123-2125
    • Ruschendorf, F.1    Nurnberg, P.2
  • 30
    • 4143102458 scopus 로고    scopus 로고
    • Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12
    • Stambolian, D., Ibay, G., Reider, L., Dana, D., Moy, C., Schlifka, M., Holmes, T., Ciner, E. & Bailey-Wilson, J. E. (2004) Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet 75, 448-459.
    • (2004) Am J Hum Genet , vol.75 , pp. 448-459
    • Stambolian, D.1    Ibay, G.2    Reider, L.3    Dana, D.4    Moy, C.5    Schlifka, M.6    Holmes, T.7    Ciner, E.8    Bailey-Wilson, J.E.9
  • 31
    • 0346373649 scopus 로고    scopus 로고
    • Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)
    • Tuson, M., Marfany, G. & Gonzalez-Duarte, R. (2004) Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am J Hum Genet 74, 128-138.
    • (2004) Am J Hum Genet , vol.74 , pp. 128-138
    • Tuson, M.1    Marfany, G.2    Gonzalez-Duarte, R.3
  • 32
    • 16544370230 scopus 로고    scopus 로고
    • A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR
    • Woods, C. G., Valente, E. M., Bond, J. & Roberts, E. (2004) A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J Med Genet 41, e101.
    • (2004) J Med Genet , vol.41
    • Woods, C.G.1    Valente, E.M.2    Bond, J.3    Roberts, E.4
  • 35
    • 45149130882 scopus 로고    scopus 로고
    • A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1
    • Zhao, C., Lu, S., Zhou, X., Zhang, X., Zhao, K. & Larsson. (2005) A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. Hum Genet 118, 356-365.
    • (2005) Hum Genet , vol.118 , pp. 356-365
    • Zhao, C.1    Lu, S.2    Zhou, X.3    Zhang, X.4    Zhao, K.5


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