The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.Church R.L., Wang J.-H., Steele E.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA]TissueLensCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCCurr. Eye Res. 14:215-221 (1995)Cited in1
No title available.Church R.L., Wang J.-H., Steele E.Cited forERRATUM OF PUBMED:7796604SourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCCurr. Eye Res. 14:979-981 (1995)Cited in1
No title available.Mackay D., Shiels A.Cited forNUCLEOTIDE SEQUENCE [GENOMIC DNA]CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)Submission Submitted to EMBL/GenBank/DDBJ databases (DEC-1999)Cited in1
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family in the Northeast of China.Zheng J.Q., Ma Z.W., Sun H.M., Lin Y., Liu P., Fu S.B., Liu S.W.Cited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CTRCT1 GLY-64CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)Submission Submitted to EMBL/GenBank/DDBJ databases (JUN-2007)Cited in1
The DNA sequence and biological annotation of human chromosome 1.Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K.[...], Bentley D.R.View abstractCited forNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCNature 441:315-321 (2006)Cited in99+99+
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.Shiels A., Mackay D., Ionides A., Berry V., Moore A., Bhattacharya S.View abstractCited forVARIANT CTRCT1 SER-88CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 62:526-532 (1998)Cited in1
Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.Berry V., Mackay D., Khaliq S., Francis P.J., Hameed A., Anwar K., Mehdi S.Q., Newbold R.J., Ionides A.[...], Bhattacharya S.S.View abstractCited forVARIANT CTRCT1 LYS-48CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCHum. Genet. 105:168-170 (1999)Cited in1
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.Polyakov A.V., Shagina I.A., Khlebnikova O.V., Evgrafov O.V.Cited forVARIANT MET-247, INVOLVEMENT IN CTRCT1CategoriesSequences, Disease & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCClin. Genet. 60:476-478 (2001)Cited in1
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.Willoughby C.E., Arab S., Gandhi R., Zeinali S., Arab S., Luk D., Billingsley G., Munier F.L., Heon E.Cited forVARIANT CTRCT1 THR-23CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCJ. Med. Genet. 40:E124-E124 (2003)Cited in1
Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M., Sun H.M.Cited forVARIANT CTRCT1 GLY-64CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBr. J. Ophthalmol. 89:1535-1537 (2005)Cited in2
No title available.Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M., Sun H.M.Cited forERRATUM OF PUBMED:16234473SourceUniProtKB reviewed (Swiss-Prot)Br. J. Ophthalmol. 90:125-125 (2006)Cited in2
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.Arora A., Minogue P.J., Liu X., Reddy M.A., Ainsworth J.R., Bhattacharya S.S., Webster A.R., Hunt D.M., Ebihara L.[...], Berthoud V.M.View abstractCited forVARIANT CTRCT1 GLN-88, CHARACTERIZATION OF VARIANT CTRCT1 GLN-88, SUBCELLULAR LOCATION, FUNCTIONCategoriesFunction, Sequences, Subcellular LocationSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCJ. Med. Genet. 43:e2-e2 (2006)Cited in1Mapped to18
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.Devi R.R., Vijayalakshmi P.View abstractCited forVARIANTS CTRCT1 GLU-44 AND GLN-198CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Vis. 12:190-195 (2006)Cited in1Mapped to18
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.Arora A., Minogue P.J., Liu X., Addison P.K., Russel-Eggitt I., Webster A.R., Hunt D.M., Ebihara L., Beyer E.C.[...], Moore A.T.View abstractCited forVARIANT CTRCT1 ASN-47, CHARACTERIZATION OF VARIANT CTRCT1 ASN-47, FUNCTION, SUBCELLULAR LOCATIONCategoriesFunction, Sequences, Subcellular LocationSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCJ. Med. Genet. 45:155-160 (2008)Cited in1Mapped to18
A mutation in GJA8 (p.P88Q) is associated with 'balloon-like' cataract with Y-sutural opacities in a family of Indian origin.Vanita V., Singh J.R., Singh D., Varon R., Sperling K.View abstractCited forVARIANT CTRCT1 GLN-88CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Vis. 14:1171-1175 (2008)Cited in1Mapped to18
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.Hansen L., Mikkelsen A., Nuernberg P., Nuernberg G., Anjum I., Eiberg H., Rosenberg T.View abstractCited forVARIANT CTRCT1 PHE-73CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCInvest. Ophthalmol. Vis. Sci. 50:3291-3303 (2009)Cited in6
The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract- causing mutation.Graw J., Schmidt W., Minogue P.J., Rodriguez J., Tong J.J., Klopp N., Illig T., Ebihara L., Berthoud V.M., Beyer E.C.View abstractCited forVARIANT MET-247, CHARACTERIZATION OF VARIANT MET-247, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITYCategoriesFunction, Sequences, Expression, Subcellular LocationSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Vis. 15:1881-1885 (2009)Cited in1Mapped to18
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.Sun W., Xiao X., Li S., Guo X., Zhang Q.View abstractCited forVARIANTS CTRCT1 ARG-39 AND ARG-46CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Vis. 17:1508-1513 (2011)Cited in2Mapped to18
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.Wang L., Luo Y., Wen W., Zhang S., Lu Y.View abstractCited forVARIANT CTRCT1 ASN-47CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Vis. 17:2380-2385 (2011)Cited in1Mapped to18
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.He W., Li X., Chen J., Xu L., Zhang F., Dai Q., Cui H., Wang D.M., Yu J.[...], Lu S.View abstractCited forVARIANT CTRCT1 ASN-47, CHARACTERIZATION OF VARIANT CTRCT1 ASN-47CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCOphthalmic Genet. 32:48-53 (2011)Cited in1Mapped to18
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.Reis L.M., Tyler R.C., Muheisen S., Raggio V., Salviati L., Han D.P., Costakos D., Yonath H., Hall S.[...], Semina E.V.View abstractCited forVARIANTS CTRCT1 GLY-67 AND CYS-76, VARIANT MET-247CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCHum. Genet. 132:761-770 (2013)Cited in6
Mutation analysis of two families with inherited congenital cataracts.Liang C., Liang H., Yang Y., Ping L., Jie Q.View abstractCited forVARIANT CTRCT1 ASN-47, SUBCELLULAR LOCATIONCategoriesSequences, Subcellular LocationSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Med. Report. 12:3469-3475 (2015)Cited in2Mapped to3
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.Javadiyan S., Craig J.E., Souzeau E., Sharma S., Lower K.M., Mackey D.A., Staffieri S.E., Elder J.E., Taranath D.[...], Burdon K.P.View abstractCited forVARIANTS CTRCT1 ARG-25; SER-45 AND LYS-162CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCG3 (Bethesda) 7:3257-3268 (2017)Cited in9
Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.Patel R., Zenith R.K., Chandra A., Ali A.View abstractCited forVARIANT CTRCT1 GLU-118CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Syndromol. 8:179-186 (2017)Cited in2
Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Jin A., Zhao Q., Liu S., Jin Z.B., Li S., Xiang M., Zeng M., Jin K.View abstractCited forVARIANT CTRCT1 LEU-88, CHARACTERIZATION OF VARIANT CTRCT1 LEU-88, FUNCTIONCategoriesFunction, SequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCFront. Cell Dev. Biol. 10:794837-794837 (2022)Cited in1