A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

PubWeight™: 0.81‹?›

🔗 View Article (PMC 3086624)

Published in Mol Vis on April 27, 2011

Authors

Guoxing Yang1, Baogang Xing, Guangcai Liu, Xiangqing Lu, Xingang Jia, Xiangqing Lu, Xiuli Wang, Hongyan Yu, Yanjiang Fu, Jialiang Zhao

Author Affiliations

1: Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Articles cited by this

Congenital cataracts and their molecular genetics. Semin Cell Dev Biol (2007) 3.76

Gap junctions and the connexin protein family. Cardiovasc Res (2004) 3.66

Infantile cataracts. Surv Ophthalmol (1996) 3.06

Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol (2004) 2.85

Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci (2000) 2.05

Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol (2002) 1.93

Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci (2001) 1.86

Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract. Invest Ophthalmol Vis Sci (1999) 1.40

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet (2004) 1.37

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract. Curr Eye Res (1998) 1.35

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

Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. Br J Ophthalmol (2005) 1.18

[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2008) 1.00

Articles by these authors

New developments in our understanding of acne pathogenesis and treatment. Exp Dermatol (2009) 2.16

Expansion of multipotent and lymphoid-committed human progenitors through intracellular dimerization of Mpl. Blood (2008) 1.51

High-quality metal oxide core/shell nanowire arrays on conductive substrates for electrochemical energy storage. ACS Nano (2012) 1.46

T cells expressing CD123-specific chimeric antigen receptors exhibit specific cytolytic effector functions and antitumor effects against human acute myeloid leukemia. Blood (2013) 1.40

Biomaterials derived from silk-tropoelastin protein systems. Biomaterials (2010) 1.36

Titanium dioxide-based nanomaterials for photocatalytic fuel generations. Chem Rev (2014) 1.33

SOX7, down-regulated in colorectal cancer, induces apoptosis and inhibits proliferation of colorectal cancer cells. Cancer Lett (2008) 1.22

Evaluation of different treatment modalities for vulvar intraepithelial neoplasia (VIN): CO(2) laser vaporization, photodynamic therapy, excision and vulvectomy. Gynecol Oncol (2005) 1.21

Direct-write assembly of 3D silk/hydroxyapatite scaffolds for bone co-cultures. Adv Healthc Mater (2012) 1.19

Genetic and epigenetic down-regulation of microRNA-212 promotes colorectal tumor metastasis via dysregulation of MnSOD. Gastroenterology (2013) 1.16

Efficient assembly and annotation of the transcriptome of catfish by RNA-Seq analysis of a doubled haploid homozygote. BMC Genomics (2012) 1.15

In vivo biosafety model to assess the risk of adverse events from retroviral and lentiviral vectors. Mol Ther (2008) 1.14

Nanofibrous architecture of silk fibroin scaffolds prepared with a mild self-assembly process. Biomaterials (2010) 1.14

Stable gene transfer to human CD34(+) hematopoietic cells using the Sleeping Beauty transposon. Exp Hematol (2006) 1.13

Human intrathymic lineage commitment is marked by differential CD7 expression: identification of CD7- lympho-myeloid thymic progenitors. Blood (2007) 1.12

The transcription factor ZBP-89 suppresses p16 expression through a histone modification mechanism to affect cell senescence. FEBS J (2009) 1.09

Histone deacetylase inhibitor trichostatin a potentiates doxorubicin-induced apoptosis by up-regulating PTEN expression. Cancer (2007) 1.08

Dynamic culture conditions to generate silk-based tissue-engineered vascular grafts. Biomaterials (2009) 1.06

The use of injectable sonication-induced silk hydrogel for VEGF(165) and BMP-2 delivery for elevation of the maxillary sinus floor. Biomaterials (2011) 1.05

Hierarchical NiCo2O4@NiCo2O4 core/shell nanoflake arrays as high-performance supercapacitor materials. ACS Appl Mater Interfaces (2013) 1.03

A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis (2011) 1.01

Graphene sheet/porous NiO hybrid film for supercapacitor applications. Chemistry (2011) 1.00

A two-site, population-based study of barriers to cataract surgery in rural china. Invest Ophthalmol Vis Sci (2008) 1.00

A 3D cartilage - inflammatory cell culture system for the modeling of human osteoarthritis. Biomaterials (2011) 0.99

Histone deacetylase 3 represses p15(INK4b) and p21(WAF1/cip1) transcription by interacting with Sp1. Biochem Biophys Res Commun (2005) 0.99

Solar PAR and UV radiation affects the physiology and morphology of the cyanobacterium Anabaena sp. PCC 7120. J Photochem Photobiol B (2007) 0.99

RNA-Seq reveals expression signatures of genes involved in oxygen transport, protein synthesis, folding, and degradation in response to heat stress in catfish. Physiol Genomics (2013) 0.97

Male-biased genes in catfish as revealed by RNA-Seq analysis of the testis transcriptome. PLoS One (2013) 0.95

Safety and effectiveness of thin-flap LASIK using a femtosecond laser and microkeratome in the correction of high myopia in Chinese patients. J Refract Surg (2010) 0.94

OTUB1 promotes metastasis and serves as a marker of poor prognosis in colorectal cancer. Mol Cancer (2014) 0.94

Therapeutic and immune effects of 5-aminolevulinic acid photodynamic therapy on UVB-induced squamous cell carcinomas in hairless mice. Exp Dermatol (2013) 0.93

Effect of long-term compost and inorganic fertilizer application on background N2O and fertilizer-induced N2O emissions from an intensively cultivated soil. Sci Total Environ (2012) 0.92

Integration of HPV-16 and HPV-18 DNA in vulvar intraepithelial neoplasia. Gynecol Oncol (2005) 0.92

Gcn5- and Elp3-induced histone H3 acetylation regulates hsp70 gene transcription in yeast. Biochem J (2008) 0.92

Effects of surface modification on photocatalytic activity of CdS nanocrystals studied by photoluminescence spectroscopy. Phys Chem Chem Phys (2012) 0.91

Recruitment of histone deacetylase 4 by transcription factors represses interleukin-5 transcription. Biochem J (2006) 0.91

Gas injection versus vitrectomy with gas for treating retinal detachment owing to macular hole in high myopes. Ophthalmology (2009) 0.90

Photocatalytic overall water splitting promoted by an α-β phase junction on Ga2O3. Angew Chem Int Ed Engl (2012) 0.89

Assessing the spatial accessibility of hospital care in Sichuan Province, China. Geospat Health (2015) 0.89

Gamabufotalin, a bufadienolide compound from toad venom, suppresses COX-2 expression through targeting IKKβ/NF-κB signaling pathway in lung cancer cells. Mol Cancer (2014) 0.88

Interleukin-12 p40 promoter activity is regulated by the reversible acetylation mediated by HDAC1 and p300. Cytokine (2005) 0.88

Optical properties of hematoporphyrin monomethyl ether (HMME), a PDT photosensitizer. Photodiagnosis Photodyn Ther (2012) 0.88

Formation of i-motif structure at neutral and slightly alkaline pH. Mol Biosyst (2009) 0.88

Histone acetyltransferase p300 regulates the transcription of human erythroid-specific 5-aminolevulinate synthase gene. Biochem Biophys Res Commun (2006) 0.87

A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families. Mol Vis (2011) 0.86

Histone acetyltransferase activity of p300 enhances the activation of IL-12 p40 promoter. Mol Immunol (2004) 0.86

Solid lipid nanoparticles for pulmonary delivery of insulin. Int J Pharm (2008) 0.86

B-Lymphoid and myeloid lineages biphenotypic acute leukemia with t(8;21)(q22;q22). Int J Hematol (2008) 0.86

Ultrafast charge carrier recombination and trapping in hematite photoanodes under applied bias. J Am Chem Soc (2014) 0.85

Development of rat urinary HPLC-UV profiling for metabonomic study on Liuwei Dihuang Pills. J Pharm Biomed Anal (2008) 0.85

In vitro evaluation of 5-aminolevulinic acid (ALA) loaded PLGA nanoparticles. Int J Nanomedicine (2013) 0.84

Axenfeld-Rieger syndrome in monozygotic twins. J Glaucoma (2011) 0.84

VEGF and BMP-6 enhance bone formation mediated by cloned mouse osteoprogenitor cells. Growth Factors (2010) 0.84

Three new POM-based compounds constructed by rigid thiabendazole and flexible bis(pyrazole) ligands: structures and properties for Hg(2+) recognition. Dalton Trans (2015) 0.83

Identification and expression analysis of two Toll-like receptor genes from sea cucumber (Apostichopus japonicus). Fish Shellfish Immunol (2012) 0.83

Treatment of moderate to severe premenstrual syndrome with Vitex agnus castus (BNO 1095) in Chinese women. Gynecol Endocrinol (2010) 0.83

Angiotensin II-induced p53-dependent cardiac apoptotic cell death: its prevention by metallothionein. Toxicol Lett (2009) 0.83

Evaluating therapeutic effect in symptoms of moderate-to-severe premenstrual syndrome with Vitex agnus castus (BNO 1095) in Chinese women. Aust N Z J Obstet Gynaecol (2010) 0.83

Multi-organ involvement of Sweet's syndrome: a case report and literature review. Intern Med (2015) 0.82

Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. J Dermatol (2012) 0.82

Retrospective study of arsenic trioxide for childhood acute promyelocytic leukemia in China: a single-center experience. Int J Hematol (2010) 0.82

HDAC4 inhibits the transcriptional activation of mda-7/IL-24 induced by Sp1. Cell Mol Immunol (2010) 0.82

Metabolomic and genomic evidence for compromised bile acid homeostasis by senecionine, a hepatotoxic pyrrolizidine alkaloid. Chem Res Toxicol (2014) 0.81

Fluorescent immunohistochemistry and in situ hybridization analysis of mouse pancreas using low-power antigen-retrieval technique. J Histochem Cytochem (2006) 0.81

Human telomeric G-quadruplex formed from duplex under near physiological conditions: spectroscopic evidence and kinetics. Biochimie (2009) 0.81

ATRA inhibits the proliferation of DU145 prostate cancer cells through reducing the methylation level of HOXB13 gene. PLoS One (2012) 0.81

Pathogen recognition receptors in channel catfish: II. Identification, phylogeny and expression of retinoic acid-inducible gene I (RIG-I)-like receptors (RLRs). Dev Comp Immunol (2012) 0.81

Photosensitization induced by exposure to colour cathode ray tube monitor following topical 5-aminolaevulinic acid-based photodynamic therapy: a case report. Acta Derm Venereol (2010) 0.80

Prevalence and correction of near vision impairment at seven sites in China, India, Nepal, Niger, South Africa, and the United States. Am J Ophthalmol (2012) 0.80

Superconductor-insulator transition in quasi-one-dimensional single-crystal Nb₂PdS₅ nanowires. Nano Lett (2015) 0.80

Blood supply to the chicken femoral head. Comp Med (2010) 0.80

Generation and analysis of expressed sequence tags from adductor muscle of Japanese scallop Mizuhopecten yessoensis. Comp Biochem Physiol Part D Genomics Proteomics (2010) 0.80

Mitogen-activated protein kinase p38 and retinoblastoma protein signalling is required for DNA damage-mediated formation of senescence-associated heterochromatic foci in tumour cells. FEBS J (2013) 0.80

Activation of RASSF2A by p300 induces late apoptosis through histone hyperacetylation. Cell Biol Int (2010) 0.80

Photodynamic therapy of cervical intraepithelial neoplasia with hexaminolevulinate. Lasers Surg Med (2008) 0.80

Evaluation of photodynamic therapy of skin cancers with partial differential alpha-aminolevulinic acid. Chin Med J (Engl) (2002) 0.79

The effect of SCF and ouabain on small intestinal motility dysfunction induced by gastric cancer peritoneal metastasis. Clin Exp Metastasis (2015) 0.79

Construction of a recombinant eukaryotic expression plasmid containing human calcitonin gene and its expression in NIH3T3 cells. J Biomed Biotechnol (2009) 0.79

Pathogen recognition receptors in channel catfish: I. Identification, phylogeny and expression of NOD-like receptors. Dev Comp Immunol (2011) 0.78

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis (2012) 0.78

Histone acetyltransferase activity of p300 enhances the activation of IL-18 promoter. J Cell Biochem (2005) 0.78

Dynamic insight into the interaction between porphyrin and G-quadruplex DNAs: time-resolved fluorescence anisotropy study. J Phys Chem B (2009) 0.78

The structural transition and compaction of human telomeric G-quadruplex induced by excluded volume effect under cation-deficient conditions. Biophys Chem (2008) 0.78

Genome-wide expression analysis of roxarsone-stimulated growth of broiler chickens (Gallus gallus). Comp Biochem Physiol Part D Genomics Proteomics (2011) 0.78

Clinical and genetic characterization of a Chinese family with CSNB1. Adv Exp Med Biol (2008) 0.78

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 hybrid photocatalytic system comprising ZnS as light harvester and an [Fe(2)S(2)] hydrogenase mimic as hydrogen evolution catalyst. ChemSusChem (2012) 0.78

Pharmacokinetics and selectivity of porphyrin synthesis after topical application of hexaminolevulinate in patients with cervical intraepithelial neoplasia. Am J Obstet Gynecol (2008) 0.78

Adenoviral Delivery of the VEGF and BMP-6 Genes to Rat Mesenchymal Stem Cells Potentiates Osteogenesis. Bone Marrow Res (2013) 0.77

Chimeric γc cytokine receptors confer cytokine independent engraftment of human T lymphocytes. Mol Immunol (2013) 0.77

Proliferation, viability, and metabolism of human tumor and normal cells cultured in microcapsule. Appl Biochem Biotechnol (2006) 0.77

DFT investigation of Ni(II) adsorption onto MA-DTPA/PVDF chelating membrane in the presence of coexistent cations and organic acids. J Hazard Mater (2011) 0.77

Hepatotoxicity from arsenic trioxide for pediatric acute promyelocytic leukemia. J Pediatr Hematol Oncol (2013) 0.77

Formation and stabilization of G-quadruplex in nanosized water pools. Chem Commun (Camb) (2010) 0.77

Development of an improved three-dimensional in vitro intestinal mucosa model for drug absorption evaluation. Tissue Eng Part C Methods (2013) 0.77

MicroRNA-142-5p Overexpression Inhibits Cell Growth and Induces Apoptosis by Regulating FOXO in Hepatocellular Carcinoma Cells. Oncol Res (2017) 0.77

Molecular cloning, characterization and expression analysis of melanotransferrin from the sea cucumber Apostichopus japonicus. Mol Biol Rep (2014) 0.76