{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T08:41:37Z","timestamp":1778056897120,"version":"3.51.4"},"reference-count":40,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2014,12,17]],"date-time":"2014-12-17T00:00:00Z","timestamp":1418774400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0115406","type":"journal-article","created":{"date-parts":[[2014,12,18]],"date-time":"2014-12-18T06:17:30Z","timestamp":1418883450000},"page":"e115406","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":26,"title":["A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract"],"prefix":"10.1371","volume":"9","author":[{"given":"Yanan","family":"Zhu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohua","family":"Gong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2014,12,17]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1136\/jmg.37.7.481","article-title":"The genetics of childhood cataract","volume":"37","author":"PJ Francis","year":"2000","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.semcdb.2007.10.003","article-title":"Congenital cataracts and their molecular genetics","volume":"19","author":"JF Hejtmancik","year":"2008","journal-title":"Semin Cell Dev Biol"},{"issue":"7","key":"ref3","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1007\/s00439-013-1289-0","article-title":"Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes","volume":"132","author":"LM Reis","year":"2013","journal-title":"Hum Genet"},{"issue":"9","key":"ref4","doi-asserted-by":"crossref","first-page":"851","DOI":"10.2174\/156652410793937750","article-title":"Gap Junctions or Hemichannel-Dependent and Independent Roles of Connexins in Cataractogenesis and Lens Development","volume":"10","author":"JX Jiang","year":"2010","journal-title":"Curr Mol Med"},{"issue":"1\u20133","key":"ref5","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s00232-007-9033-0","article-title":"Connexins in lens development and cataractogenesis","volume":"218","author":"X Gong","year":"2007","journal-title":"J Membr Biol"},{"issue":"6","key":"ref6","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1016\/j.yexcr.2009.01.017","article-title":"The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium","volume":"315","author":"AM DeRosa","year":"2009","journal-title":"Exp Cell Res"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/BJ20060175","article-title":"The gap junction cellular internet: connexin hemichannels enter the signalling limelight","volume":"397","author":"WH Evans","year":"2006","journal-title":"Biochem J"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3389\/fphar.2013.00075","article-title":"Cyclic nucleotide permeability through unopposed connexin hemichannels","volume":"4","author":"V Valiunas","year":"2013","journal-title":"Front Pharmacol"},{"key":"ref9","first-page":"2347","article-title":"A Chinese family with progressive childhood cataracts and IVS3+1G&gt;A CRYBA3\/A1 mutations","volume":"16","author":"Y Zhu","year":"2010","journal-title":"Mol Vis"},{"issue":"4","key":"ref10","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1007\/s00417-011-1871-x","article-title":"The effect of connexin43 on the level of vascular endothelial growth factor in human retinal pigment epithelial cells","volume":"250","author":"CE Pocrnich","year":"2012","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"issue":"12","key":"ref11","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1002\/humu.21552","article-title":"A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family","volume":"32","author":"K Yao","year":"2011","journal-title":"Hum Mutat"},{"issue":"10","key":"ref12","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1242\/dev.02361","article-title":"Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis","volume":"133","author":"CH Xia","year":"2006","journal-title":"Development"},{"issue":"4\u20136","key":"ref13","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1080\/cac.10.4-6.211.214","article-title":"Fusion of GFP to the carboxyl terminus of connexin43 increases gap junction size in HeLa cells","volume":"10","author":"AW Hunter","year":"2003","journal-title":"Cell Commun Adhes"},{"issue":"5","key":"ref14","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1167\/iovs.03-0760","article-title":"CRYBA3\/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype","volume":"45","author":"W Ferrini","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"2","key":"ref15","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1590\/S0004-27492011000200016","article-title":"The genetic and molecular basis of congenital cataract","volume":"74","author":"A Santana","year":"2011","journal-title":"Arq Bras Oftalmol"},{"key":"ref16","first-page":"767","article-title":"A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract","volume":"19","author":"J Li","year":"2013","journal-title":"Mol Vis"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1017\/S0033583501003705","article-title":"Emerging issues of connexin channels: biophysics fills the gap","volume":"34","author":"AL Harris","year":"2001","journal-title":"Q Rev Biophys"},{"key":"ref18","first-page":"190","article-title":"Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea","volume":"12","author":"RR Devi","year":"2006","journal-title":"Mol Vis"},{"key":"ref19","first-page":"323","article-title":"A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin","volume":"14","author":"V Vanita","year":"2008","journal-title":"Mol Vis"},{"issue":"12","key":"ref20","doi-asserted-by":"crossref","first-page":"5837","DOI":"10.1167\/iovs.09-3759","article-title":"A mutant connexin50 with enhanced hemichannel function leads to cell death","volume":"50","author":"PJ Minogue","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"8","key":"ref21","first-page":"1844","article-title":"Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract","volume":"40","author":"X Xu","year":"1999","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"ref22","first-page":"59","article-title":"A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract","volume":"25","author":"Y Lin","year":"2008","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"issue":"3","key":"ref23","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1136\/jmg.2007.051029","article-title":"A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts","volume":"45","author":"A Arora","year":"2008","journal-title":"J Med Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1242\/jcs.034124","article-title":"Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner","volume":"122(Pt 3)","author":"EA Banks","year":"2009","journal-title":"J Cell Sci"},{"issue":"3","key":"ref25","doi-asserted-by":"crossref","first-page":"C212","DOI":"10.1152\/ajpcell.00098.2013","article-title":"Functional effects of Cx50 mutations associated with congenital cataracts","volume":"306","author":"C Rubinos","year":"2014","journal-title":"Am J Physiol Cell Physiol"},{"issue":"4","key":"ref26","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1016\/S0006-3495(02)75550-1","article-title":"Hemichannel and junctional properties of connexin 50","volume":"82","author":"DL Beahm","year":"2002","journal-title":"Biophys J"},{"issue":"5","key":"ref27","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1515\/BC.2006.076","article-title":"The gating effect of calmodulin and calcium on the connexin50 hemichannel","volume":"387","author":"X Zhang","year":"2006","journal-title":"Biol Chem"},{"key":"ref28","first-page":"132","article-title":"Calcium and the physiology of cataract","volume":"106","author":"G Duncan","year":"1984","journal-title":"Ciba Found Symp"},{"issue":"4","key":"ref29","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1085\/jgp.200409121","article-title":"Connections between connexins, calcium, and cataracts in the lens","volume":"124","author":"J Gao","year":"2004","journal-title":"J Gen Physiol"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/nature07869","article-title":"Structure of the connexin 26 gap junction channel at 3.5 A resolution","volume":"458","author":"S Maeda","year":"2009","journal-title":"Nature"},{"issue":"6","key":"ref31","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1167\/iovs.07-1658","article-title":"Cataracts Are Caused by Alterations of a Critical N-Terminal Positive Charge in Connexin50","volume":"49","author":"BC Thomas","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1007\/BF00583793","article-title":"Cell pairs isolated from adult guinea pig and rat hearts: effects of [Ca<sup>2+<\/sup>]<sub>i<\/sub> on nexal membrane resistance","volume":"409","author":"P Maurer","year":"1987","journal-title":"Pflugers Arch"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"2556","DOI":"10.1073\/pnas.050588497","article-title":"Clustering of connexin43-enhanced green fluorescent protein gap junction channels and functional coupling in living cells","volume":"97","author":"FF Bukauskas","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1083\/jcb.148.5.1063","article-title":"Physiological role of gap-junctional hemichannels. Extracellular calcium-dependent is osmotic volume regulation","volume":"148","author":"AP Quist","year":"2000","journal-title":"J CellBiol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"48300","DOI":"10.1074\/jbc.M107308200","article-title":"A self-restricted CD38-connexin43 cross-talk affects NAD<sup>+<\/sup> and cyclic ADP-ribose metabolism and regulates intracellular calcium in 3T3 fibroblasts","volume":"276","author":"S Bruzzone","year":"2001","journal-title":"J Biol Chem"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"8648","DOI":"10.1074\/jbc.M108625200","article-title":"Transduction of cell survival signals by connexin-43 hemichannels","volume":"277","author":"LI Plotkin","year":"2002","journal-title":"J Biol Chem"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1016\/S0006-2952(03)00540-9","article-title":"Connexins and apoptotic transformation","volume":"66","author":"A Kalvelyte","year":"2003","journal-title":"Biochem Pharmacol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.bbamem.2012.07.002","article-title":"Paracrine signaling through plasma membrane hemichannels","volume":"1828","author":"N Wang","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"20","DOI":"10.3389\/fphys.2014.00020","article-title":"Connexin_hemichannels in the lens","volume":"5","author":"EC Beyer","year":"2014","journal-title":"Front Physiol"},{"issue":"9","key":"ref40","doi-asserted-by":"crossref","first-page":"e74732","DOI":"10.1371\/journal.pone.0074732","article-title":"Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death","volume":"8","author":"Q Ren","year":"2013","journal-title":"PLoS One"}],"updated-by":[{"DOI":"10.1371\/journal.pone.0125949","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2015,5,13]],"date-time":"2015-05-13T00:00:00Z","timestamp":1431475200000}}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0115406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T16:49:16Z","timestamp":1589042956000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0115406"}},"subtitle":[],"editor":[{"given":"Roy A.","family":"Quinlan","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2014,12,17]]},"references-count":40,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2014,12,17]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0115406","relation":{"correction":[{"id-type":"doi","id":"10.1371\/journal.pone.0125949","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,17]]}}}