Associated Papers
Mutation screening of γ-crystallin gene in congenital cataract patients from North India.
Fatima AE et al.
Indian Journal of Ophthalmology, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Lecca M et al.
Clinical Genetics, 2024
Through the Cat-Map Gateway: A Brief History of Cataract Genetics.
Shiels A
Genes, 2024
A potential novel role of the R36P mutation in CRYGD in congenial cataract.
Tan C et al.
Molecular Vision, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.
Wang KJ et al.
Orphanet Journal of Rare Diseases, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family.
Gao Y et al.
Frontiers in Genetics, 2022
Modeling congenital cataract in vitro using patient-specific induced pluripotent stem cells.
Lyu D et al.
Npj Regenerative Medicine, 2021
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Taylan Şekeroğlu H et al.
Turkish Journal of Ophthalmology, 2021
A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees.
Cai SP et al.
International Journal of Ophthalmology, 2021
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
Taylan Sekeroglu H et al.
Molecular Syndromology, 2020
Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2020
Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
Song IK et al.
International Journal of Molecular Sciences, 2020
The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
Fan F et al.
Bmc Ophthalmology, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J et al.
Orphanet Journal of Rare Diseases, 2018
[Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract].
Ma C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.
Zhai Y et al.
Scientific Reports, 2017
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.
Yang G et al.
Scientific Reports, 2016
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.
Zhuang X et al.
Plos One, 2015
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
Mackay DS et al.
Human Genomics, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.
Zhai Y et al.
International Journal of Medical Sciences, 2014
Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.
Jia X et al.
Bmc Medical Genetics, 2013
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 2012
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V et al.
Molecular and Cellular Biochemistry, 2012
A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.
Yang G et al.
Molecular Vision, 2011
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M et al.
Molecular Vision, 2011
Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.
Gong B et al.
Molecular Vision, 2010
A novel human CRYGD mutation in a juvenile autosomal dominant cataract.
Roshan M et al.
Molecular Vision, 2010
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
Zhang LY et al.
Molecular Vision, 2009
[Gene mapping and mutation detection in a family with congenital nuclear cataract].
Liu P et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Genetics of crystallins: cataract and beyond.
Graw J
Experimental Eye Research, 2009
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
Hansen L et al.
Molecular Vision, 2007
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2007
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
Zenteno JC et al.
Molecular Vision, 2005