Published in Br J Ophthalmol on November 01, 2005
Congenital cataracts and their molecular genetics. Semin Cell Dev Biol (2007) 3.76
Lens gap junctions in growth, differentiation, and homeostasis. Physiol Rev (2010) 1.70
Oxidative stress, lens gap junctions, and cataracts. Antioxid Redox Signal (2009) 1.49
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis (2008) 1.34
Connexin mutants and cataracts. Front Pharmacol (2013) 1.11
A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations. Mol Vis (2010) 1.03
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50. Am J Physiol Cell Physiol (2011) 1.02
Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50. Invest Ophthalmol Vis Sci (2008) 1.01
Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. Mol Vis (2010) 1.00
Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3). Mol Vis (2010) 0.97
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 "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene. Mol Vis (2007) 0.90
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q. Mol Vis (2011) 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
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. Hum Mutat (2016) 0.84
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. Mol Vis (2012) 0.82
A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis (2013) 0.81
A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis (2011) 0.81
A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree. Mol Vis (2011) 0.79
Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis. Mol Syndromol (2017) 0.76
The HMMTOP transmembrane topology prediction server. Bioinformatics (2001) 12.57
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet (1998) 3.64
Infantile cataracts. Surv Ophthalmol (1996) 3.06
Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet (1999) 2.79
Unique and redundant connexin contributions to lens development. Science (2002) 2.17
Connexin disorders of the ear, skin, and lens. Biochim Biophys Acta (2004) 1.75
Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development (2002) 1.72
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet (1999) 1.54
A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32. Proc Natl Acad Sci U S A (1992) 1.50
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet (2003) 1.38
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet (2001) 1.32
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet (2000) 1.32
A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q. Mol Vis (2004) 1.26
A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Mol Vis (2004) 1.20
A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. Mol Vis (2003) 1.13
The sequence of the human genome. Science (2001) 101.55
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
TM4: a free, open-source system for microarray data management and analysis. Biotechniques (2003) 38.02
Comparative genomics of the eukaryotes. Science (2000) 26.62
Designer deletion strains derived from Saccharomyces cerevisiae S288C: a useful set of strains and plasmids for PCR-mediated gene disruption and other applications. Yeast (1998) 23.00
Complete genome sequence of a virulent isolate of Streptococcus pneumoniae. Science (2001) 21.99
TIGRFAMs: a protein family resource for the functional identification of proteins. Nucleic Acids Res (2001) 20.84
Correlative memory deficits, Abeta elevation, and amyloid plaques in transgenic mice. Science (1996) 19.72
A novel transcription factor, T-bet, directs Th1 lineage commitment. Cell (2000) 17.61
Complete genome sequence of Salmonella enterica serovar Typhimurium LT2. Nature (2001) 16.89
Probability of HIV-1 transmission per coital act in monogamous, heterosexual, HIV-1-discordant couples in Rakai, Uganda. Lancet (2001) 13.32
Allergic Rhinitis and its Impact on Asthma (ARIA) 2008 update (in collaboration with the World Health Organization, GA(2)LEN and AllerGen). Allergy (2008) 12.35
IKK-1 and IKK-2: cytokine-activated IkappaB kinases essential for NF-kappaB activation. Science (1997) 11.89
Elastography: a quantitative method for imaging the elasticity of biological tissues. Ultrason Imaging (1991) 11.44
Autism and measles, mumps, and rubella vaccine: no epidemiological evidence for a causal association. Lancet (1999) 11.10
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet (1997) 10.93
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet (1997) 10.71
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med (2013) 8.89
Aberrant CpG-island methylation has non-random and tumour-type-specific patterns. Nat Genet (2000) 8.58
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet (2000) 8.33
Activated T cells regulate bone loss and joint destruction in adjuvant arthritis through osteoprotegerin ligand. Nature (1999) 8.23
Identification of individual human immunodeficiency virus type 1 gp120 amino acids important for CD4 receptor binding. J Virol (1990) 7.85
Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus. J Virol (1998) 7.76
Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis. Nature (2000) 7.37
Crystal structure of the RNA-binding domain of the U1 small nuclear ribonucleoprotein A. Nature (1990) 7.32
Sequence complexity of disordered protein. Proteins (2001) 6.97
Mitotic phosphorylation of histone H3 is governed by Ipl1/aurora kinase and Glc7/PP1 phosphatase in budding yeast and nematodes. Cell (2000) 6.81
IL-25 induces IL-4, IL-5, and IL-13 and Th2-associated pathologies in vivo. Immunity (2001) 6.56
Efficient long-term gene transfer into muscle tissue of immunocompetent mice by adeno-associated virus vector. J Virol (1996) 6.43
Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res (1997) 6.37
TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res (1997) 5.92
An abundance of X-linked genes expressed in spermatogonia. Nat Genet (2001) 5.87
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology (2006) 5.67
Sonic hedgehog signaling is essential for hair development. Curr Biol (1998) 5.58
p27(Kip1) ubiquitination and degradation is regulated by the SCF(Skp2) complex through phosphorylated Thr187 in p27. Curr Biol (1999) 5.40
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. Proc Natl Acad Sci U S A (1997) 5.32
Histone-like TAFs within the PCAF histone acetylase complex. Cell (1998) 5.26
Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science (1999) 5.22
Lack of pericytes leads to endothelial hyperplasia and abnormal vascular morphogenesis. J Cell Biol (2001) 5.17
Sequence and analysis of chromosome 4 of the plant Arabidopsis thaliana. Nature (1999) 5.03
Replicative function and neutralization sensitivity of envelope glycoproteins from primary and T-cell line-passaged human immunodeficiency virus type 1 isolates. J Virol (1995) 5.01
Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell (2001) 4.92
Negative regulation of Gcn4 and Msn2 transcription factors by Srb10 cyclin-dependent kinase. Genes Dev (2001) 4.91
Genetic manipulation of hedgehog signaling in the endochondral skeleton reveals a direct role in the regulation of chondrocyte proliferation. Development (2001) 4.89
Cytochrome c release and apoptosis induced by mitochondrial targeting of nuclear orphan receptor TR3. Science (2000) 4.57
Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs. Cell (1999) 4.57
Exposure to nanoparticles is related to pleural effusion, pulmonary fibrosis and granuloma. Eur Respir J (2009) 4.54
The osteoclast differentiation factor osteoprotegerin-ligand is essential for mammary gland development. Cell (2000) 4.53
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature (1998) 4.47
Connexins regulate calcium signaling by controlling ATP release. Proc Natl Acad Sci U S A (1998) 4.35
Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron (1997) 4.33
Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Res (1997) 4.32
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell (1993) 4.30
Analysis of the aphthovirus 2A/2B polyprotein 'cleavage' mechanism indicates not a proteolytic reaction, but a novel translational effect: a putative ribosomal 'skip'. J Gen Virol (2001) 4.25
Specificity of the HP1 chromo domain for the methylated N-terminus of histone H3. EMBO J (2001) 4.23
A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts. Cell (1998) 4.21
Population pharmacokinetics of colistin methanesulfonate and formed colistin in critically ill patients from a multicenter study provide dosing suggestions for various categories of patients. Antimicrob Agents Chemother (2011) 4.21
Adalimumab for maintenance treatment of Crohn's disease: results of the CLASSIC II trial. Gut (2007) 4.21
Dominance is the major genetic basis of heterosis in rice as revealed by QTL analysis using molecular markers. Genetics (1995) 4.18
Ibuprofen suppresses plaque pathology and inflammation in a mouse model for Alzheimer's disease. J Neurosci (2000) 4.14
GABA(A) receptor alpha4 subunit suppression prevents withdrawal properties of an endogenous steroid. Nature (1998) 4.09
Expression of apoptosis-regulating proteins in chronic lymphocytic leukemia: correlations with In vitro and In vivo chemoresponses. Blood (1998) 4.07
A MAP kinase-dependent spindle assembly checkpoint in Xenopus egg extracts. Cell (1994) 4.05
Inhibition of hyperalgesia by ablation of lamina I spinal neurons expressing the substance P receptor. Science (1997) 4.03
Clonal and antigenic analysis of serogroup A Neisseria meningitidis with particular reference to epidemiological features of epidemic meningitis in the People's Republic of China. Infect Immun (1992) 4.02
Injurious ventilatory strategies increase cytokines and c-fos m-RNA expression in an isolated rat lung model. J Clin Invest (1997) 4.00
Crystal structure of four-stranded Oxytricha telomeric DNA. Nature (1992) 3.96
Comparison of fixed-flexion positioning with fluoroscopic semi-flexed positioning for quantifying radiographic joint-space width in the knee: test-retest reproducibility. Skeletal Radiol (2003) 3.93
The curry spice curcumin reduces oxidative damage and amyloid pathology in an Alzheimer transgenic mouse. J Neurosci (2001) 3.92
Aromatic hydrogen bond in sequence-specific protein DNA recognition. Nat Struct Biol (1996) 3.91
Cytometry in cell necrobiology: analysis of apoptosis and accidental cell death (necrosis). Cytometry (1997) 3.90
Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo. Gene Ther (2003) 3.85
Two distinct mechanisms for long-range patterning by Decapentaplegic in the Drosophila wing. Nature (1996) 3.81
Prophylactic atenolol reduces postoperative myocardial ischemia. McSPI Research Group. Anesthesiology (1998) 3.79
Brassinosteroid-insensitive-1 is a ubiquitously expressed leucine-rich repeat receptor serine/threonine kinase. Plant Physiol (2000) 3.73
The correlation between cotransplantation of mesenchymal stem cells and higher recurrence rate in hematologic malignancy patients: outcome of a pilot clinical study. Leukemia (2008) 3.69
Mutations altering the moloney murine leukemia virus p12 Gag protein affect virion production and early events of the virus life cycle. EMBO J (1999) 3.67
Effectiveness of community health workers in the care of persons with diabetes. Diabet Med (2006) 3.66
Conformation and function of the N-linked glycan in the adhesion domain of human CD2. Science (1995) 3.62
Evidence for a partially folded intermediate in alpha-synuclein fibril formation. J Biol Chem (2001) 3.60
Light control of Arabidopsis development entails coordinated regulation of genome expression and cellular pathways. Plant Cell (2001) 3.60
PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet (1997) 3.58
Structural basis for DNA bending by the architectural transcription factor LEF-1. Nature (1995) 3.58
Interaction of NPR1 with basic leucine zipper protein transcription factors that bind sequences required for salicylic acid induction of the PR-1 gene. Proc Natl Acad Sci U S A (1999) 3.56
CARD4/Nod1 mediates NF-kappaB and JNK activation by invasive Shigella flexneri. EMBO Rep (2001) 3.55
A presynaptic inositol-5-phosphatase. Nature (1996) 3.54
Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping. Science (1993) 3.54
Multiferroic BaTiO3-CoFe2O4 Nanostructures. Science (2004) 3.49
Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. Mol Cell (1999) 3.47
Novel mutation in the human immunodeficiency virus type 1 reverse transcriptase gene that encodes cross-resistance to 2',3'-dideoxyinosine and 2',3'-dideoxycytidine. J Virol (1992) 3.46
Concerted dephosphorylation of the transcription factor NFAT1 induces a conformational switch that regulates transcriptional activity. Mol Cell (2000) 3.44
Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology (2005) 3.44
Phosphorylation of the AMPA receptor subunit GluR2 differentially regulates its interaction with PDZ domain-containing proteins. J Neurosci (2000) 3.44
State estimates of Medicaid expenditures attributable to cigarette smoking, fiscal year 1993. Public Health Rep (1998) 3.41
Three-dimensional structure of an evolutionarily conserved N-terminal domain of syntaxin 1A. Cell (1998) 3.40
LifeLines: using visualization to enhance navigation and analysis of patient records. Proc AMIA Symp (1998) 3.35
Clustering of AMPA receptors by the synaptic PDZ domain-containing protein PICK1. Neuron (1999) 3.33
Tenofovir is superior to entecavir for achieving complete viral suppression in HBeAg-positive chronic hepatitis B patients with high HBV DNA. Aliment Pharmacol Ther (2014) 3.32
Wildtype Kras2 can inhibit lung carcinogenesis in mice. Nat Genet (2001) 3.27