C. Chakarova

发表

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Subhadra Jalali, Anand Swaroop, S. Jacobson, 2006, American journal of human genetics.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Alessia Fiorentino, Nikolas Pontikos, Michel Michaelides, 2016, JAMA ophthalmology.

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy

Amna Z. Shah, C. Ponting, E. Zrenner, 2018 .

Mutations in TOPORS: A Rare Cause of Autosomal Dominant Retinitis Pigmentosa in Continental Europe?

S. Bhattacharya, K. Rüther, S. Kindler, 2009, Ophthalmic genetics.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ivana K. Kim, G. Abecasis, J. Haines, 2014, Human molecular genetics.

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Amna Z. Shah, H. Cordell, M. Simpson, 2020, PLoS genetics.

Effects of Ca2+ ions on bestrophin-1 surface films.

S. Bhattacharya, V. Moskova-Doumanova, T. Topouzova-Hristova, 2017, Colloids and surfaces. B, Biointerfaces.

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.

S. Bhattacharya, V. Marigo, C. Chakarova, 2007, Human molecular genetics.

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

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2013, Journal of Molecular and Genetic Medicine.

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

Shomi S. Bhattacharya, Alan F. Wright, A. Wright, 2010, Nature Reviews Genetics.

Identification of interacting protein partners of TOPORS in the retina

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2013 .

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

Kang Zhang, Eberhart Zrenner, Yu Zhao, 2005, Human molecular genetics.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

F. Cremers, G. Holder, F. Raymond, 2016, Investigative ophthalmology & visual science.

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

R. Wilson, R. Fulton, G. Weinstock, 2014, Investigative ophthalmology & visual science.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

G. Abecasis, A. Swaroop, D. Breuer, 2009, American journal of human genetics.

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

T. Léveillard, N. Tanimoto, S. Beck, 2009, Investigative ophthalmology & visual science.

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

D. Hunt, A. Bird, S. Bhattacharya, 2001, Molecular cell.

detrimental aggregates in photoreceptor cells

S. Bhattacharya, V. Marigo, C. Chakarova, 2007 .

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.

S. Bhattacharya, A. Moore, M. Reddy, 2004, Human molecular genetics.

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2016, PloS one.

MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer

Amna Z. Shah, A. Chakravarti, S. Chambers, 2018, Annals of oncology : official journal of the European Society for Medical Oncology.

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

Amna Z. Shah, C. Ponting, A. Swaroop, 2007, American journal of human genetics.

Clinical Study Novel GUCA 1 A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone , Cone-Rod , and Macular Dystrophy Patients

S. Bhattacharya, M. Cortón, C. Ayuso, 2014 .

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

S. Bhattacharya, M. Cortón, C. Ayuso, 2013, BioMed research international.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.

A. Wright, S. Bhattacharya, Simone Massalini, 2013, Human molecular genetics.

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

M. Hims, D. Hunt, T. Rosenberg, 2002, Human molecular genetics.

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

D. Hunt, S. Bhattacharya, V. Vaclavik, 2008, Molecular vision.

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

Amna Z. Shah, A. Swaroop, U. Wolfrum, 2011, Human molecular genetics.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Leo Goodstadt, Amna Z. Shah, Chris P Ponting, 2008, Nature Genetics.

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Monkol Lek, Daniel G MacArthur, Vincent Plagnol, 2014, American journal of human genetics.

Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22

R. Kaneva, V. Milanova, A. Jablensky, 2004, Psychiatric genetics.

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

D. Sharon, J. Duncan, S. Bhattacharya, 2016, Human molecular genetics.

Transepithelial resistance in human bestrophin-1 stably transfected Madin–Darby canine kidney cells

V. Moskova-Doumanova, T. Topouzova-Hristova, K. Mladenova, 2014, Biotechnology, biotechnological equipment.

ARTICLE; MEDICAL BIOTECHNOLOGY Transepithelial resistance in human bestrophin-1 stably transfected MadinDarby canine kidney cells

V. Moskova-Doumanova, T. Topouzova-Hristova, K. Mladenova, 2015 .

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

A. Bird, A. Webster, A. Robson, 2008, British Journal of Ophthalmology.

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

M. Michaelides, A. Hardcastle, P. Lišková, 2014, Molecular vision.

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

S. Bhattacharya, I. Lopez, H. Ren, 2015, Investigative ophthalmology & visual science.

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2012, Nature Genetics.

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins

S. Bhattacharya, A. Montero-Sánchez, Sofia M. Calado, 2019, Molecular Medicine.

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

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2012, Human molecular genetics.

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

R. Kaneva, A. Wright, S. Bhattacharya, 2006, Molecular vision.

NMNAT 1 Mutations Cause Leber Congenital Amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2013 .

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

F. Cremers, F. Raymond, K. Carss, 2016, Investigative ophthalmology & visual science.

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

D. Hunt, S. Bhattacharya, V. Vaclavik, 2008, Molecular vision.

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Xinjing Wang, F. Raymond, G. Arno, 2018, Investigative ophthalmology & visual science.