Chakarova CF - Search Results

1

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.

Wilkie SE, Vaclavik V, Wu H, Bujakowska K, Chakarova CF, Bhattacharya SS, Warren MJ, Hunt DM. Wilkie SE, et al. Among authors: chakarova cf. Mol Vis. 2008 Apr 18;14:683-90. Mol Vis. 2008. PMID: 18431455 Free PMC article.

2

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

3

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, Ramsden S, Kremensky I, Bhattacharya SS. Chakarova CF, et al. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.

4

Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

Bujakowska K, Maubaret C, Chakarova CF, Tanimoto N, Beck SC, Fahl E, Humphries MM, Kenna PF, Makarov E, Makarova O, Paquet-Durand F, Ekström PA, van Veen T, Leveillard T, Humphries P, Seeliger MW, Bhattacharya SS. Bujakowska K, et al. Among authors: chakarova cf. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5927-33. doi: 10.1167/iovs.08-3275. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578015

5

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.

Maubaret C, Kosmaoglou M, Low S, Chakarova CF, Bidot S, Thauvin-Robinet C, Robson AG, Waseem N, Cheetham ME, Bhattacharya SS. Maubaret C, et al. Among authors: chakarova cf. Mol Vis. 2012;18:581-7. Epub 2012 Mar 2. Mol Vis. 2012. PMID: 22419850 Free PMC article.

6

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. Vithana EN, et al. Mol Cell. 2001 Aug;8(2):375-81. doi: 10.1016/s1097-2765(01)00305-7. Mol Cell. 2001. PMID: 11545739 Free article.

7

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK. Coussa RG, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8297-305. doi: 10.1167/iovs.15-17104. Invest Ophthalmol Vis Sci. 2015. PMID: 26720483 Free PMC article.

8

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Chakarova CF, et al. Am J Hum Genet. 2007 Nov;81(5):1098-103. doi: 10.1086/521953. Epub 2007 Sep 26. Am J Hum Genet. 2007. PMID: 17924349 Free PMC article.

9

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS. Rose AM, et al. Among authors: chakarova cf. Hum Mol Genet. 2012 Sep 15;21(18):4126-37. doi: 10.1093/hmg/dds242. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723017

10

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.

Rose AM, Shah AZ, Alfano G, Bujakowska KM, Barker AF, Robertson JL, Rahman S, Sánchez LV, Diaz-Corrales FJ, Chakarova CF, Krishna A, Bhattacharya SS. Rose AM, et al. Among authors: chakarova cf. J Mol Genet Med. 2013 Aug;7(2):1000067. doi: 10.4172/1747-0862.1000067. J Mol Genet Med. 2013. PMID: 25729402 Free PMC article.

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