Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.
作者信息
Khaliq S, Abid A, Ismail M, Hameed A, Mohyuddin A, Lall P, Aziz A, Anwar K, Mehdi S Q
出版信息
J Med Genet. 2005 May;42(5):436-8. doi: 10.1136/jmg.2004.024281.
Abstract
摘要
相似文献
1
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.
J Med Genet. 2005 May;42(5):436-8. doi: 10.1136/jmg.2004.024281.
2
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70. doi: 10.1167/iovs.04-1280.
3
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
Mol Vis. 2004 Nov 17;10:884-9.
4
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2236-42. doi: 10.1167/iovs.09-4437. Epub 2009 Nov 20.
5
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.
Br J Ophthalmol. 2012 Jul;96(7):1018-22. doi: 10.1136/bjophthalmol-2011-301134. Epub 2012 Feb 8.
6
Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
Am J Ophthalmol. 2004 Jun;137(6):1137-9. doi: 10.1016/j.ajo.2003.12.037.
7
Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
Curr Eye Res. 2005 Dec;30(12):1081-7. doi: 10.1080/02713680500351039.
8
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
Hum Mutat. 2012 Jan;33(1):73-80. doi: 10.1002/humu.21640. Epub 2011 Dec 1.
9
[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Jun;19(3):194-7.
引用本文的文献
1
Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.
Int J Mol Sci. 2025 Jul 10;26(14):6615. doi: 10.3390/ijms26146615.
2
Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.
Ophthalmologica. 2025;248(3):175-184. doi: 10.1159/000545606. Epub 2025 Apr 1.
3
Retinal Dystrophies Associated with Mutations in the Gene: Genotype-Phenotype Correlations.
Curr Issues Mol Biol. 2025 Mar 20;47(3):212. doi: 10.3390/cimb47030212.
4
Exome sequencing identifies a homozygous splice site variant in as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family.
Ann Med. 2025 Dec;57(1):2470953. doi: 10.1080/07853890.2025.2470953. Epub 2025 Mar 3.
5
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
Sci Rep. 2024 Oct 27;14(1):25669. doi: 10.1038/s41598-024-77441-3.
6
Detecting Element Insertion Variant in Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa.
Genes (Basel). 2024 Sep 30;15(10):1290. doi: 10.3390/genes15101290.
7
Retinitis pigmentosa-1 due to an mutation in a consanguineous Iranian family: Report of a novel mutation.
Clin Case Rep. 2024 Mar 14;12(3):e8666. doi: 10.1002/ccr3.8666. eCollection 2024 Mar.
8
OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related Retinopathy.
Retina. 2024 Jul 1;44(7):1260-1267. doi: 10.1097/IAE.0000000000004091.
9
Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
Medicina (Kaunas). 2024 Feb 1;60(2):254. doi: 10.3390/medicina60020254.
10
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
BMC Ophthalmol. 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7.
Zotero 插件