Published in Invest Ophthalmol Vis Sci on September 01, 2007
Congenital cataracts and their molecular genetics. Semin Cell Dev Biol (2007) 3.76
Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis (2008) 2.00
Oxidative stress, lens gap junctions, and cataracts. Antioxid Redox Signal (2009) 1.49
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis (2009) 1.26
Functions of the intermediate filament cytoskeleton in the eye lens. J Clin Invest (2009) 1.26
Hydrophobic core mutations associated with cataract development in mice destabilize human gammaD-crystallin. J Biol Chem (2009) 1.16
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts. Mol Vis (2008) 1.13
Connexin mutants and cataracts. Front Pharmacol (2013) 1.11
Mutation analysis of 12 genes in Chinese families with congenital cataracts. Mol Vis (2011) 1.10
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet (2013) 1.09
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet (2013) 1.09
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet (2011) 1.08
A novel GJA8 mutation causing a recessive triangular cataract. Mol Vis (2008) 1.06
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. Mol Vis (2009) 1.03
Epidemiology and molecular genetics of congenital cataracts. Int J Ophthalmol (2011) 1.01
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. Mol Vis (2009) 0.99
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract. Mol Vis (2009) 0.99
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin. Mol Vis (2008) 0.97
A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer. Hum Mutat (2011) 0.97
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. Eur J Hum Genet (2010) 0.95
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract. Mol Vis (2011) 0.91
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway. PLoS One (2011) 0.90
A novel human CRYGD mutation in a juvenile autosomal dominant cataract. Mol Vis (2010) 0.90
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. Mol Vis (2010) 0.88
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. Mol Vis (2011) 0.87
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. Mol Vis (2009) 0.87
The congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregation. PLoS One (2011) 0.86
Transcriptional regulation of mouse alpha A-crystallin gene in a 148kb Cryaa BAC and its derivates. BMC Dev Biol (2008) 0.85
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. Mol Vis (2011) 0.84
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. Hum Mutat (2016) 0.84
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. Eur J Hum Genet (2015) 0.84
Synergistic effects of metal ion and the pre-senile cataract-causing G98R alphaA-crystallin: self-aggregation propensities and chaperone activity. Mol Vis (2009) 0.82
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing. Mol Vis (2013) 0.82
Impact of diabetes on alpha-crystallins and other heat shock proteins in the eye. J Ocul Biol Dis Infor (2011) 0.82
Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin. Mol Cell Biochem (2011) 0.81
αA-Crystallin-derived mini-chaperone modulates stability and function of cataract causing αAG98R-crystallin. PLoS One (2012) 0.81
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. Invest Ophthalmol Vis Sci (2011) 0.80
Mechanism of cataract formation in alphaA-crystallin Y118D mutation. Invest Ophthalmol Vis Sci (2009) 0.80
Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter. Sci Rep (2016) 0.80
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract. BMC Res Notes (2016) 0.79
Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin. PLoS One (2012) 0.79
A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis (2011) 0.78
Molecular and structural analysis of genetic variations in congenital cataract. Mol Vis (2013) 0.77
Comparison of effect of gamma ray irradiation on wild-type and N-terminal mutants of αA-crystallin. Mol Vis (2014) 0.77
Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses. Hum Genomics (2012) 0.77
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family. J Ophthalmol (2016) 0.75
Differential role of arginine mutations on the structure and functions of α-crystallin. Biochim Biophys Acta (2015) 0.75
Differentiation of Induced Pluripotent Stem Cells to Lentoid Bodies Expressing a Lens Cell-Specific Fluorescent Reporter. PLoS One (2016) 0.75
Mutation analysis of two families with inherited congenital cataracts. Mol Med Rep (2015) 0.75
Congenital Cataract in Gpr161vl/vl Mice Is Modified by Proximal Chromosome 15. PLoS One (2017) 0.75
A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract. Bosn J Basic Med Sci (2017) 0.75
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts. Sci Rep (2016) 0.75
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus. Mol Vis (2017) 0.75
Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family. Graefes Arch Clin Exp Ophthalmol (2016) 0.75
Antihypertensive drugs decrease risk of Alzheimer disease: Ginkgo Evaluation of Memory Study. Neurology (2013) 2.61
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
Cat-Map: putting cataract on the map. Mol Vis (2010) 2.24
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet (2002) 2.21
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet (2004) 2.13
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
Genetic origins of cataract. Arch Ophthalmol (2007) 2.09
The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis (2008) 2.04
Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis (2008) 2.00
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci (2005) 1.94
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet (2006) 1.90
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet (2007) 1.84
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet (2005) 1.81
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis (2010) 1.75
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci (2004) 1.71
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci (2004) 1.70
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. Hum Genet (2002) 1.69
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet (2004) 1.66
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Tubulointerstitial nephritis and uveitis (TINU) syndrome: a case report and review of the literature. Acta Ophthalmol (2009) 1.58
A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications. Ophthalmology (2004) 1.56
Comorbidity in patients with branch retinal vein occlusion: case-control study. BMJ (2012) 1.56
A genome-wide association analysis of serum iron concentrations. Blood (2009) 1.55
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat (2008) 1.53
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat (2002) 1.48
A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis (2005) 1.47
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet (2007) 1.36
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. Am J Hum Genet (2005) 1.35
Statistical modeling of global geogenic fluoride contamination in groundwaters. Environ Sci Technol (2008) 1.35
A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci (2005) 1.34
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One (2011) 1.33
Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. Proc Natl Acad Sci U S A (2009) 1.30
A new locus for autosomal recessive congenital cataract identified in a Pakistani family. Mol Vis (2010) 1.30
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet (2006) 1.29
A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family. Mol Vis (2007) 1.27
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res (2013) 1.27
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis (2007) 1.27
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet (2011) 1.26
An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci (2009) 1.25
Simple biologically informed inflammatory index of two serum cytokines predicts 10 year all-cause mortality in older adults. J Gerontol A Biol Sci Med Sci (2013) 1.25
X-linked high myopia associated with cone dysfunction. Arch Ophthalmol (2004) 1.23
Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure. Proc Natl Acad Sci U S A (2009) 1.22
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci (2008) 1.20
Patterns of 12-year change in physical activity levels in community-dwelling older women: can modest levels of physical activity help older women live longer? Am J Epidemiol (2012) 1.20
betaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development. Mol Cell Neurosci (2007) 1.18
Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. J Clin Invest (2002) 1.16
CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. PLoS One (2012) 1.16
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat (2007) 1.15
The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. Mol Vis (2006) 1.15
Methionine sulfoxide reductases B1, B2, and B3 are present in the human lens and confer oxidative stress resistance to lens cells. Invest Ophthalmol Vis Sci (2005) 1.15
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A (2004) 1.15
Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy. BMC Med Genet (2010) 1.15
Experts do not agree when to treat retinopathy of prematurity based on plus disease. Br J Ophthalmol (2011) 1.13
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat (2002) 1.13
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet (2005) 1.12
Clinical and genetic features in Italian Bietti crystalline dystrophy patients. Br J Ophthalmol (2012) 1.10
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci (2002) 1.10
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet (2013) 1.10
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat (2011) 1.06
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet (2007) 1.06
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet (2010) 1.05
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases. Mol Vis (2011) 1.05
Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1. Am J Med Genet A (2005) 1.05
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis (2008) 1.05
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci (2008) 1.05
Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes. Diabetes (2008) 1.05
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Mol Vis (2004) 1.05
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci (2011) 1.05
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis (2007) 1.04
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. Hum Mutat (2010) 1.04
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet (2010) 1.03
GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci (2012) 1.03
Inflammation and mortality in a frail mouse model. Age (Dordr) (2011) 1.03
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. Invest Ophthalmol Vis Sci (2009) 1.03
Mutations in NYX of individuals with high myopia, but without night blindness. Mol Vis (2007) 1.03
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. Hum Genet (2002) 1.02
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci (2009) 1.01
Thionein can serve as a reducing agent for the methionine sulfoxide reductases. Proc Natl Acad Sci U S A (2006) 1.01
Association properties of betaB1- and betaA3-crystallins: ability to form heterotetramers. Biochemistry (2008) 1.00
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Br J Ophthalmol (2010) 1.00
Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children. Invest Ophthalmol Vis Sci (2004) 1.00
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci (2010) 1.00