CHAKAROVA
Papers published during contract

Yang Y. , Alvarez B. , Chakarova C. , Jiang L., Karan G., Frederick J., Zhao Y., Sauve Y., Li X., Zrenner E., Wissinger B., den Hollander A., Katz B., Baehr W., Cremers F., Casey J., Bhattacharya S., Zhang K. Mutant Carbonic Anhydrase 4 (CA4) impairs pH regulation and causes retinal photoreceptor degeneration. (submitted) joint first authors

Kaneva RP, Chorbov VM, Milanova VK, Kostov CS, Nickolov KI, Chakarova CF, Stoyanova VS, Nikolova-Hill AN, Krastev SK, Onchev GN, Kremensky IM, Kalaydjieva LV, Jablensky AV.Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22. Psychiatr Genet. 2004 Jun;14(2):101-106.

Reddy MA, Bateman OA, Chakarova C, Ferris J, Berry V, Lomas E, Sarra R, Smith MA, Moore AT, Bhattacharya SS, Slingsby C. Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. Hum Mol Genet. 2004 May 1;13(9):945-53.

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. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Jan 1;11(1):87-92.

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. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell. 2001 Aug;8(2):375-81.





Poster presentations during contract

C. Chakarova, Matthew Hims, Hanno Bolz, Leen Abu-Safien, Reshma Patel, Myrto Papaioannou, Chris Inglehearn, T. Jeffrey Keen, Catherine Willis, Anthony Moore, Thomas Rosenberg, Andrew Webster, Alan Bird, Andreas Gal, David Hunt, Eranga Vithana and Shomi Bhattacharya. Mutations in HPRP3, a third member of a pre mRNA splicing factor genes implicated in autosomal dominant retinitis pigmentosa. (ASHG, 2001)

Eranga Vithana, Christina Chakarova, Hanno Bolz, Leen Abu Safieh, Sue Wilkie, Anthony T. Moore, Andreas Gal, Alan C. Bird, Shomi S. Bhattacharya. Identification of mutations in HPRP3, the gene for autosomal dominant retinitis pigmentosa on chromosome 1 and functional analysis of mutations. (ARVO, 2002)

C. Chakarova, E. Vithana, S. Wilkie, D. Hunt, S.S. Bhattacharya. Functional Studies of Mutations in HPRP3 Associated with autosomal Dominant Retinitis Pigmentosa. (ARVO, 2003)

M.A. Reddy, V. Berry, C. Chakarova, J. Ferris, E. Lomas, A.T. Moore, S.S. Bhattacharya. A Novel Mutation in the CRYBA1 Gene is Associated with Autosomal Dominant Lamellar Cataract. (ARVO, 2003)

S.S. Bhattacharya, R.J. Patel, L.Abu-Safieh, C. Chakarova, M. Papaioannou, E. Vithana, B. Leroy, A.J. Hardcastle. Evaluation of the Retbindin Gene as a Candidate for Retinal Diseases. (ARVO, 2003)

C.F. Chakarova, A.I.den Hollander, F.P.M. Cremers, B. Wissinger, E. Zrenner, S.S. Bhattacharya. Mutation screening of genes from the RP17 interval in patients with autosomal dominant retinitis pigmentosa (adRP). (ARVO, 2004)

E.N. Vithana, C. Chakarova, R.J. Patel, S.S. Bhattacharya. Can the stability of a mutant mRNA copy of PRPF31 with an 11bp deletion be compromised through alternative splicing? (ARVO, 2004)



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