{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:19:24Z","timestamp":1740161964612,"version":"3.37.3"},"reference-count":31,"publisher":"Wiley","license":[{"start":{"date-parts":[[2011,10,5]],"date-time":"2011-10-05T00:00:00Z","timestamp":1317772800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BD\/19988\/2004","SFRH\/BD\/24575\/2005"],"award-info":[{"award-number":["SFRH\/BD\/19988\/2004","SFRH\/BD\/24575\/2005"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BD\/19988\/2004","SFRH\/BD\/24575\/2005"],"award-info":[{"award-number":["SFRH\/BD\/19988\/2004","SFRH\/BD\/24575\/2005"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetics Research International"],"published-print":{"date-parts":[[2011,10,5]]},"abstract":"<jats:p>Involvement of <jats:italic>GJB2<\/jats:italic> noncoding regions in hearing loss (HL) has not been extensively investigated. However, three noncoding mutations, c.-259C&gt;T, c.-23G&gt;T, and c.-23+1G&gt;A, were reported. Also, c.-684_-675del, of uncertain pathogenicity, was found upstream of the basal promoter. We performed a detailed analysis of <jats:italic>GJB2<\/jats:italic> noncoding regions in Portuguese HL patients (previously screened for <jats:italic>GJB2<\/jats:italic> coding mutations and the common <jats:italic>GJB6<\/jats:italic> deletions) and in control subjects, by sequencing the basal promoter and flanking upstream region, exon 1, and 3'UTR. All individuals were genotyped for c.-684_-675del and 14 SNPs. Novel variants (c.-731C&gt;T, c.-26G&gt;T, c.<jats:sup>*<\/jats:sup>45G&gt;A, and c.<jats:sup>*<\/jats:sup>985A&gt;T) were found in controls. A hearing individual homozygous for c.-684_-675del was for the first time identified, supporting the nonpathogenicity of this deletion. Our data indicate linkage disequilibrium (LD) between SNPs rs55704559 (c.<jats:sup>*<\/jats:sup>168A&gt;G) and rs5030700 (c.<jats:sup>*<\/jats:sup>931C&gt;T) and suggest the association of c.[<jats:sup>*<\/jats:sup>168G;<jats:sup>*<\/jats:sup>931T] allele with HL. The c.<jats:sup>*<\/jats:sup>168A&gt;G change, predicted to alter mRNA folding, might be involved in HL.<\/jats:p>","DOI":"10.4061\/2011\/827469","type":"journal-article","created":{"date-parts":[[2011,10,5]],"date-time":"2011-10-05T19:04:14Z","timestamp":1317841454000},"page":"1-8","source":"Crossref","is-referenced-by-count":2,"title":["Assessing Noncoding Sequence Variants of <i>GJB2<\/i> for Hearing Loss Association"],"prefix":"10.1155","volume":"2011","author":[{"given":"T. D.","family":"Matos","sequence":"first","affiliation":[{"name":"Centre for Biodiversity, Functional, and Integrative Genomics (BioFIG), Faculty of Science, University of Lisbon, Campus FCUL, Campo Grande, 1749-016 Lisboa, Portugal"}]},{"given":"H.","family":"Sim\u00f5es-Teixeira","sequence":"additional","affiliation":[{"name":"Centre for Biodiversity, Functional, and Integrative Genomics (BioFIG), Faculty of Science, University of Lisbon, Campus FCUL, Campo Grande, 1749-016 Lisboa, Portugal"}]},{"given":"H.","family":"Caria","sequence":"additional","affiliation":[{"name":"Centre for Biodiversity, Functional, and Integrative Genomics (BioFIG), Faculty of Science, University of Lisbon, Campus FCUL, Campo Grande, 1749-016 Lisboa, Portugal"},{"name":"Higher School of Health, Polytechnic Institute of Set\u00fabal, Campus IPS, Estefanilha, 2914-503 Set\u00fabal, Portugal"}]},{"given":"R.","family":"Casc\u00e3o","sequence":"additional","affiliation":[{"name":"Centre for Biodiversity, Functional, and Integrative Genomics (BioFIG), Faculty of Science, University of Lisbon, Campus FCUL, Campo Grande, 1749-016 Lisboa, Portugal"}]},{"given":"H.","family":"Rosa","sequence":"additional","affiliation":[{"name":"ORL Service, Hospital Garcia de Orta, EPE, Av. Torrado Silva, 2805-267 Almada, Portugal"}]},{"given":"A.","family":"O'Neill","sequence":"additional","affiliation":[{"name":"Department of Head and Neck, Hospital Egas Moniz, CHLO, EPE, R. da Junqueira 126, 1349-019  Lisboa, Portugal"}]},{"given":"\u00d3.","family":"Dias","sequence":"additional","affiliation":[{"name":"ORL Service, Hospital Santa Maria, CHLN, EPE, Av. Professor Egas Moniz, 1600 Lisboa, Portugal"}]},{"given":"M. E.","family":"Andrea","sequence":"additional","affiliation":[{"name":"ORL Service, Hospital Santa Maria, CHLN, EPE, Av. Professor Egas Moniz, 1600 Lisboa, Portugal"}]},{"given":"D. P.","family":"Kelsell","sequence":"additional","affiliation":[{"name":"Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, University of London, London E1 2AT, UK"}]},{"given":"G.","family":"Fialho","sequence":"additional","affiliation":[{"name":"Centre for Biodiversity, Functional, and Integrative Genomics (BioFIG), Faculty of Science, University of Lisbon, Campus FCUL, Campo Grande, 1749-016 Lisboa, Portugal"}]}],"member":"311","reference":[{"doi-asserted-by":"publisher","key":"1","DOI":"10.1186\/gm13"},{"issue":"5, article 460","key":"2","volume":"18","year":"2001","journal-title":"Human Mutation"},{"doi-asserted-by":"publisher","key":"3","DOI":"10.1056\/NEJMoa012052"},{"doi-asserted-by":"publisher","key":"4","DOI":"10.1038\/sj\/ejhg\/5200762"},{"doi-asserted-by":"publisher","key":"5","DOI":"10.1136\/jmg.2004.028324"},{"doi-asserted-by":"publisher","key":"6","DOI":"10.1111\/j.1365-2230.2005.01878.x"},{"doi-asserted-by":"publisher","key":"7","DOI":"10.1016\/j.bbrc.2009.08.152"},{"doi-asserted-by":"publisher","key":"8","DOI":"10.1086\/505333"},{"doi-asserted-by":"publisher","key":"9","DOI":"10.1111\/j.1399-0004.2010.01387.x"},{"doi-asserted-by":"publisher","key":"10","DOI":"10.1038\/ejhg.2008.179"},{"doi-asserted-by":"publisher","key":"11","DOI":"10.1016\/S0140-6736(98)11071-1"},{"doi-asserted-by":"publisher","key":"12","DOI":"10.1007\/s00439-001-0674-2"},{"doi-asserted-by":"publisher","key":"13","DOI":"10.1111\/j.1399-0004.2006.00602.x"},{"doi-asserted-by":"publisher","key":"14","DOI":"10.1007\/BF02935334"},{"issue":"3","key":"15","first-page":"315","volume":"20","year":"2007","journal-title":"International Journal of Molecular Medicine"},{"issue":"1","key":"16","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1136\/jmg.38.1.20","volume":"38","year":"2001","journal-title":"Journal of Medical Genetics"},{"issue":"3","key":"17","first-page":"75","volume":"31","year":"2002","journal-title":"Iranian Journal of Public Health"},{"doi-asserted-by":"publisher","key":"19","DOI":"10.1136\/jmg.2007.050682"},{"doi-asserted-by":"publisher","key":"20","DOI":"10.1136\/jmg.2008.059873"},{"doi-asserted-by":"publisher","key":"21","DOI":"10.1186\/1479-5876-7-79"},{"doi-asserted-by":"publisher","key":"22","DOI":"10.1186\/1479-5876-8-127"},{"issue":"1, article 98","key":"23","volume":"21","year":"2003","journal-title":"Human Mutation"},{"doi-asserted-by":"publisher","key":"24","DOI":"10.1093\/nar\/gkg595"},{"doi-asserted-by":"publisher","key":"25","DOI":"10.1016\/S0378-1119(97)00365-X"},{"doi-asserted-by":"publisher","key":"26","DOI":"10.1016\/S0167-4781(98)00212-7"},{"doi-asserted-by":"publisher","key":"27","DOI":"10.1002\/ajmg.a.31525"},{"doi-asserted-by":"publisher","key":"28","DOI":"10.1007\/s00439-006-0218-x"},{"doi-asserted-by":"publisher","key":"29","DOI":"10.1073\/pnas.93.24.13721"},{"doi-asserted-by":"publisher","key":"30","DOI":"10.1128\/MCB.23.10.3506-3515.2003"},{"doi-asserted-by":"publisher","key":"31","DOI":"10.1128\/MCB.25.21.9520-9531.2005"},{"doi-asserted-by":"publisher","key":"32","DOI":"10.1073\/pnas.1012989107"}],"container-title":["Genetics Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/archive\/2011\/827469.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/archive\/2011\/827469.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/archive\/2011\/827469.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,9]],"date-time":"2020-12-09T03:03:33Z","timestamp":1607483013000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/gri\/2011\/827469\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,5]]},"references-count":31,"alternative-id":["827469","827469"],"URL":"https:\/\/doi.org\/10.4061\/2011\/827469","relation":{},"ISSN":["2090-3162"],"issn-type":[{"type":"electronic","value":"2090-3162"}],"subject":[],"published":{"date-parts":[[2011,10,5]]}}}