Citations for
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
Audo I, Mohand-Sad S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
Hum Mutat 33(1):73-80. doi: 10.1002/humu.21640. Epub 2011 Dec 1. 2012
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
Invest Ophthalmol Vis Sci 51(4):2236-42. 2010
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.
Khaliq S, Abid A, Ismail M, Hameed A, Mohyuddin A, Lall P, Aziz A, Anwar K, Mehdi SQ.
J Med Genet 42(5):436-8. No abstract available. 2005
Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations.
Liu J, Huang Q, Higdon J, Liu W, Xie T, Yamashita T, Cheon K, Cheng C, Zuo J.
Hum Mol Genet 14(19):2945-58. Epub 2005 Aug 26. 2005
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
Invest Ophthalmol Vis Sci 46(7):2264-70. 2005
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.
Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA.
Invest Ophthalmol Vis Sci 43(1):22-32. 2002
7 RP1
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.
Guillonneau X, et al.
Hum Mol Genet 8(8):1541-6. 1999
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Sullivan LS, et al.
Nat Genet 22(3):255-9. 1999
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.
Pierce EA, et al.
Nat Genet 22(3):248-54. 1999
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne SJ, et al.
Hum Mol Genet 8(11):2121-8 1999
11APC, RP1
EB/RP gene family encodes tubulin binding proteins.
Juwana JP, Henderikx P, Mischo A, Wadle A, Fadle N, Gerlach K, Arends JW, Hoogenboom H, Pfreundschuh M, Renner C.
Int J Cancer. 81(2):275-84. 1999
Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285.
Xu SY, et al.
Hum Genet 98 : 741-743. 1996
Refined linkage and physical mapping of the chromosome 8 form of autosomal dominant retinitis pigmentosa (RP1). (abstr)
Sullivan LS, et al.
Cytogenet Cell Genet 68 : 161. 1995
Linkage mapping of one form of autosomal dominant retinitis pigmentosa (RP1) to 8q21-q22.
Daiger SP, et al.
Am J Hum Genet 51 : A185. 1992
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.
Blanton SH, et al.
Genomics 11 : 857-869. 1991
16RP1, RP4
No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17) : evidence for genetic heterogeneity.
Inglehearn CF, et al.
Genomics 6 : 168-173. 1990
Autosomal dominant retinitis pigmentosa : exclusion of the gene from the short arm of chromosome 1 including the region surrounding the Rhesus locus.
Bradley DG, et al.
Am J Hum Genet 44 : 570-576. 1989
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.
Field LL, et al.
J Med Genet 19 : 266-270. 1982