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References from A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea. Local targets link to admitted publications; unresolved targets remain external evidence.
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
10.1186/s12881-018-0695-5 · 2018 · External reference
The genetics of cataract: our vision becomes clearer
10.1086/301774 · 1998 · External reference
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
10.1186/s12881-019-0780-4 · 2019 · External reference
Genetics of human cataract
10.1111/cge.12182 · 2013 · External reference
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract
10.1186/s12881-019-0782-2 · 2019 · External reference
Molecular genetics of cataract
10.1016/bs.pmbts.2015.05.004 · 2015 · External reference
Two human gamma-crystallin genes are linked and riddled with Alu-repeats
10.1016/0378-1119(85)90218-5 · 1985 · External reference
Lens proteins and their genes
1991 · External reference
Ageing and vision: structure, stability and function of lens crystallins
10.1016/j.pbiomolbio.2003.11.012 · 2004 · External reference
The genetic and molecular basis of congenital cataract
10.1590/s0004-27492011000200016 · 2011 · External reference
Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36
10.1007/bf00292656 · 1986 · External reference
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes
10.1007/s00439-013-1289-0 · 2013 · External reference
ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Genomic sequences of murine gamma B- and gamma C-crystallin-encoding genes: promoter analysis and complete evolutionary pattern of mouse, rat and human gamma-crystallins
10.1016/0378-1119(93)90458-f · 1993 · External reference
Lens crystallins: the evolution and expression of proteins for a highly specialized tissue
10.1146/annurev.bi.57.070188.002403 · 1988 · External reference
Genetics of crystallins: cataract and beyond
10.1016/j.exer.2008.10.011 · 2009 · External reference
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities
2017 · External reference
Alteration of protein–protein interactions of congenital cataract crystallin mutants
10.1167/iovs.02-0950 · 2003 · External reference
The cataract-associated V41M mutant of human γS-crystallin shows specific structural changes that directly enhance local surface hydrophobicity
10.1016/j.bbrc.2013.11.073 · 2014 · External reference
The molecular structure and stability of the eye lens: x-ray analysis of gamma-crystallin II
10.1038/289771a0 · 1981 · External reference
Autosomal dominant congenital cataract. Interocular phenotypic variability
10.1016/s0161-6420(94)31246-2 · 1994 · External reference
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract
10.1186/s40246-014-0019-6 · 2014 · External reference
Increased hydrophobicity and decreased backbone flexibility explain the lower solubility of a cataract-linked mutant of γD-crystallin
10.1016/j.jmb.2011.07.058 · 2011 · External reference
Identification of sequence similarities among isomerization hotspots in crystallin proteins
10.1021/acs.jproteome.7b00073 · 2017 · External reference
The gamma-crystallins and human cataracts: a puzzle made clearer
10.1086/302619 · 1999 · External reference
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
2000 · External reference
Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts
10.1136/jmg.39.5.352 · 2002 · External reference
A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity
2007 · External reference
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
2008 · External reference
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens
10.1002/humu.21648 · 2012 · External reference
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
2012 · External reference
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
2009 · External reference
Crystallin gene mutations in Indian families with inherited pediatric cataract
2008 · External reference
Mutation screening and genotype phenotype correlation of α- crystallin, γ-crystallin and GJA8 gene in congenital cataract
2011 · External reference
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
2013 · External reference
Personalized diagnosis and management of congenital cataract by next-generation sequencing
10.1016/j.ophtha.2014.06.006 · 2014 · External reference
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
10.1038/ejhg.2013.268 · 2014 · External reference
Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing
10.1002/humu.22948 · 2016 · External reference
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population
2016 · External reference
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
10.1007/s00439-016-1747-6 · 2017 · External reference
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
2017 · External reference
Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes
10.1002/ajmg.a.40524 · 2018 · External reference
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract
10.1186/s13023-018-0828-0 · 2018 · External reference
Mutation screening of crystallin genes in Chinese families with congenital cataracts
2019 · External reference
The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing
10.1186/s12886-020-01567-x · 2020 · External reference
A novel CRYGC E128∗ mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred
10.1080/13816810.2020.1807027 · 2020 · External reference
Molecular etiology of isolated congenital cataract using next-generation sequencing: single center exome sequencing data from Turkey
10.1159/000510481 · 2020 · External reference
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
2018 · External reference
Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis
10.1038/s41433-018-0084-5 · 2018 · External reference
