Christina F. Chakarova

Bath Street
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 22 publications

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

Journal: PLoS genetics

Published: September 02, 2019

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

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

Journal: Molecular medicine (Cambridge, Mass.)

Published: May 30, 2019

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

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

Journal: Investigative ophthalmology & visual science

Published: October 23, 2018

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

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

Journal: Annals of oncology : official journal of the European Society for Medical Oncology

Published: March 07, 2018

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

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

Journal: Investigative ophthalmology & visual science

Published: September 14, 2016

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Journal: American journal of human genetics

Published: September 06, 2016

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

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

Journal: Colloids and surfaces. B, Biointerfaces

Published: July 14, 2016

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

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

Journal: JAMA ophthalmology

Published: June 10, 2016

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

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

Journal: Human molecular genetics

Published: January 28, 2016

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

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

Journal: Investigative ophthalmology & visual science

Published: January 01, 2016

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

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

Journal: PloS one

Published: September 05, 2015

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

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

Journal: Investigative ophthalmology & visual science

Published: September 06, 2014

Showing 1-12 of 22

Last Updated: 09/26/2026