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Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG; UCL-Exomes Consortium; Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Sergouniotis PI, et al. Among authors: bhattacharya ss. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003. Am J Hum Genet. 2014. PMID: 24791901 Free PMC article.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium; Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. El-Asrag ME, et al. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983245 Free PMC article.
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. Among authors: bhattacharya ss. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A. Friedman JS, et al. Among authors: bhattacharya ss. Am J Hum Genet. 2006 Dec;79(6):1059-70. doi: 10.1086/510021. Epub 2006 Oct 23. Am J Hum Genet. 2006. PMID: 17186464 Free PMC article.
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. Among authors: bhattacharya ss. 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.
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT. Henderson RH, et al. Among authors: bhattacharya ss. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9. doi: 10.1167/iovs.07-0207. Invest Ophthalmol Vis Sci. 2007. PMID: 18055820 Free article.
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Mackay DS, et al. Among authors: bhattacharya ss. Mol Vis. 2010 Mar 9;16:369-77. Mol Vis. 2010. PMID: 20300561 Free PMC article.
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, Papaioannou MG, Nagel-Wolfrum K, Lopez I, Munro P, Cheetham M, Koenekoop RK, Rios RM, Matter K, Wolfrum U, Swaroop A, Bhattacharya SS. Chakarova CF, et al. Among authors: bhattacharya ss. Hum Mol Genet. 2011 Mar 1;20(5):975-87. doi: 10.1093/hmg/ddq543. Epub 2010 Dec 15. Hum Mol Genet. 2011. PMID: 21159800 Free PMC article.
444 results