Published in Mol Vis on July 13, 2007
Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis (2008) 2.00
Clinical and experimental advances in congenital and paediatric cataracts. Philos Trans R Soc Lond B Biol Sci (2011) 1.20
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. Mol Vis (2010) 1.13
Mutation analysis of 12 genes in Chinese families with congenital cataracts. Mol Vis (2011) 1.10
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis (2010) 1.10
A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations. Mol Vis (2010) 1.03
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis (2009) 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
Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family. Mol Vis (2011) 0.96
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. Mol Vis (2008) 0.92
A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. Mol Vis (2011) 0.92
Identification of crystallin modifications in the human lens cortex and nucleus using laser capture microdissection and CyDye labeling. Mol Vis (2010) 0.90
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. Mol Vis (2008) 0.88
A developmental defect in astrocytes inhibits programmed regression of the hyaloid vasculature in the mammalian eye. Eur J Cell Biol (2011) 0.86
Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1. Mol Vis (2012) 0.84
A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family. G3 (Bethesda) (2014) 0.81
Identification of interaction sites between human betaA3- and alphaA/alphaB-crystallins by mammalian two-hybrid and fluorescence resonance energy transfer acceptor photobleaching methods. J Biol Chem (2009) 0.79
A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. Mol Vis (2011) 0.78
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. BMC Ophthalmol (2014) 0.78
Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses. Hum Genomics (2012) 0.77
Decreasing the homodimer interaction: a common mechanism shared by the deltaG91 mutation and deamidation in betaA3-crystallin. Mol Vis (2010) 0.77
Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis. Mol Syndromol (2017) 0.76
Interaction of βA3-Crystallin with Deamidated Mutants of αA- and αB-Crystallins. PLoS One (2015) 0.75
Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis). Trans Am Ophthalmol Soc (2015) 0.75
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models. Nat Biotechnol (2010) 7.08
Integration of Notch and Wnt signaling in hematopoietic stem cell maintenance. Nat Immunol (2005) 6.49
A promoter-level mammalian expression atlas. Nature (2014) 6.25
Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis. Nat Biotechnol (2013) 5.89
PF00299804, an irreversible pan-ERBB inhibitor, is effective in lung cancer models with EGFR and ERBB2 mutations that are resistant to gefitinib. Cancer Res (2007) 5.45
Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility. PLoS One (2012) 5.03
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet (2005) 4.80
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet (2007) 4.76
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68
A recurrent mutation in PALB2 in Finnish cancer families. Nature (2007) 4.64
MiRNA-directed regulation of VEGF and other angiogenic factors under hypoxia. PLoS One (2006) 4.29
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Characterization of a common susceptibility locus for asthma-related traits. Science (2004) 4.05
Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers. Nat Genet (2010) 4.01
MMP12, lung function, and COPD in high-risk populations. N Engl J Med (2009) 3.96
Imaging hematopoietic precursor division in real time. Cell Stem Cell (2007) 3.62
Domestic violence in rural Uganda: evidence from a community-based study. Bull World Health Organ (2003) 3.45
Regulation of myeloid leukaemia by the cell-fate determinant Musashi. Nature (2010) 3.20
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med (2003) 3.07
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Benefit of clopidogrel in patients with acute coronary syndromes without ST-segment elevation in various risk groups. Circulation (2002) 2.89
Hypoxia enhances proliferation and tissue formation of human mesenchymal stem cells. Biochem Biophys Res Commun (2007) 2.67
Nuclear factor of activated T-cells (NFAT) rescues osteoclastogenesis in precursors lacking c-Fos. J Biol Chem (2004) 2.66
MicroRNA-21 (miR-21) represses tumor suppressor PTEN and promotes growth and invasion in non-small cell lung cancer (NSCLC). Clin Chim Acta (2010) 2.55
LUMA (LUminometric Methylation Assay)--a high throughput method to the analysis of genomic DNA methylation. Exp Cell Res (2006) 2.48
Neural response to reward anticipation under risk is nonlinear in probabilities. J Neurosci (2009) 2.45
Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J Rheumatol (2009) 2.39
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet (2005) 2.32
Autocrine production of amphiregulin predicts sensitivity to both gefitinib and cetuximab in EGFR wild-type cancers. Clin Cancer Res (2008) 2.28
Effects of hypoxia on human mesenchymal stem cell expansion and plasticity in 3D constructs. J Cell Physiol (2006) 2.24
Effects of aspirin dose when used alone or in combination with clopidogrel in patients with acute coronary syndromes: observations from the Clopidogrel in Unstable angina to prevent Recurrent Events (CURE) study. Circulation (2003) 2.20
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet (2006) 2.14
Early and late effects of clopidogrel in patients with acute coronary syndromes. Circulation (2003) 2.05
TFDP1, CUL4A, and CDC16 identified as targets for amplification at 13q34 in hepatocellular carcinomas. Hepatology (2002) 2.05
Acute toxicological effects of copper nanoparticles in vivo. Toxicol Lett (2005) 2.04
The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet (2005) 2.02
The effect of combined antihypertensive treatment (felodipine with either irbesartan or metoprolol) on erectile function: a randomized controlled trial. Cardiology (2013) 2.02
Validation and cost-effectiveness of a home-based screening system for amblyopia. Ophthalmology (2012) 2.00
Coercive sex in rural Uganda: prevalence and associated risk factors. Soc Sci Med (2004) 2.00
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet (2005) 1.94
MicroRNA expression profiles associated with mutational status and survival in malignant melanoma. J Invest Dermatol (2010) 1.93
Exact controllability of complex networks. Nat Commun (2013) 1.93
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A (2003) 1.93
Whole-genome sequencing of cultivated and wild peppers provides insights into Capsicum domestication and specialization. Proc Natl Acad Sci U S A (2014) 1.91
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
ADF/cofilin-mediated actin dynamics regulate AMPA receptor trafficking during synaptic plasticity. Nat Neurosci (2010) 1.82
Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma. Am J Respir Crit Care Med (2005) 1.78
Pheochromocytoma and functional paraganglioma syndrome: no longer the 10% tumor. J Surg Oncol (2005) 1.78
Elevated retinol-binding protein 4 levels are associated with metabolic syndrome in Chinese people. J Clin Endocrinol Metab (2007) 1.77
A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res (2009) 1.77
AtPID: Arabidopsis thaliana protein interactome database--an integrative platform for plant systems biology. Nucleic Acids Res (2007) 1.76
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet (2009) 1.73
Regulation of ras signaling dynamics by Sos-mediated positive feedback. Curr Biol (2006) 1.70
EZH2 inhibitor efficacy in non-Hodgkin's lymphoma does not require suppression of H3K27 monomethylation. Chem Biol (2014) 1.69
Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis. J Invest Dermatol (2003) 1.68
Ror1, a cell surface receptor tyrosine kinase is expressed in chronic lymphocytic leukemia and may serve as a putative target for therapy. Int J Cancer (2008) 1.64
Timing of infant feeding in relation to childhood asthma and allergic diseases. J Allergy Clin Immunol (2012) 1.62
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
Alteration in copy numbers of genes as a mechanism for acquired drug resistance. Cancer Res (2004) 1.58
Phosphorylation of caveolin-1 regulates oxidant-induced pulmonary vascular permeability via paracellular and transcellular pathways. Circ Res (2009) 1.57
Interferon-induced ISG15 conjugation inhibits influenza A virus gene expression and replication in human cells. J Virol (2009) 1.55
SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat (2002) 1.54
Proteomic study of thyroid tumors reveals frequent up-regulation of the Ca2+ -binding protein S100A6 in papillary thyroid carcinoma. Thyroid (2010) 1.51
Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Genes Chromosomes Cancer (2002) 1.51
Transcriptome profiling of human pre-implantation development. PLoS One (2009) 1.51
Hsa-miR-1246, hsa-miR-320a and hsa-miR-196b-5p inhibitors can reduce the cytotoxicity of Ebola virus glycoprotein in vitro. Sci China Life Sci (2014) 1.51
Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem (2002) 1.50
Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity. J Biol Chem (2004) 1.50
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins. Biol Psychiatry (2012) 1.50
Influence of the COMT genotype on working memory and brain activity changes during development. Biol Psychiatry (2011) 1.50
Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy. Proc Natl Acad Sci U S A (2013) 1.49
Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum. Gastroenterology (2002) 1.47
Effect of felodipine with irbesartan or metoprolol on sexual function and oxidative stress in women with essential hypertension. J Hypertens (2012) 1.47
Relationship of sex hormones and nocturia in lower urinary tract symptoms induced by benign prostatic hyperplasia. Aging Male (2012) 1.46
Large-scale zygosity testing using single nucleotide polymorphisms. Twin Res Hum Genet (2007) 1.45
Inhibition of autophagy ameliorates acute lung injury caused by avian influenza A H5N1 infection. Sci Signal (2012) 1.45
Honokiol suppresses survival signals mediated by Ras-dependent phospholipase D activity in human cancer cells. Clin Cancer Res (2008) 1.43
Two-step K(+)-Na+ and Ag(+)-Na+ ion-exchanged glass waveguides for C-band applications. Appl Opt (2002) 1.43
Wnt5a enhances the response of CML cells to Imatinib Mesylate through JNK activation and γ-catenin inhibition. Leuk Res (2013) 1.43
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet (2002) 1.42
Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease. Environ Health Perspect (2008) 1.40
The zebrafish transcriptome during early development. BMC Dev Biol (2011) 1.39
LifeGene--a large prospective population-based study of global relevance. Eur J Epidemiol (2010) 1.38
BMI is strongly associated with hypertension, and waist circumference is strongly associated with type 2 diabetes and dyslipidemia, in northern Chinese adults. J Epidemiol (2012) 1.35
The role of microRNA deregulation in the pathogenesis of adrenocortical carcinoma. Endocr Relat Cancer (2011) 1.35
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet (2007) 1.32
Induction of tumoricidal function in CD4+ T cells is associated with concomitant memory and terminally differentiated phenotype. J Exp Med (2012) 1.32
Inhibition of apoptosome formation by suppression of Hsp90beta phosphorylation in tyrosine kinase-induced leukemias. Mol Cell Biol (2008) 1.32
Species specificity of the NS1 protein of influenza B virus: NS1 binds only human and non-human primate ubiquitin-like ISG15 proteins. J Biol Chem (2010) 1.32