{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:17:34Z","timestamp":1763057854560},"reference-count":32,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2014,11,5]],"date-time":"2014-11-05T00:00:00Z","timestamp":1415145600000},"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.0108134","type":"journal-article","created":{"date-parts":[[2014,11,5]],"date-time":"2014-11-05T14:06:55Z","timestamp":1415196415000},"page":"e108134","update-policy":"http:\/\/dx.doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":22,"title":["KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects"],"prefix":"10.1371","volume":"9","author":[{"given":"Jiandong","family":"Zhao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongyi","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shasha","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bangqing","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongyang","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guojian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongyi","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pu","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2014,11,5]]},"reference":[{"key":"ref1","first-page":"805","article-title":"Large vestibular aqueduct and congenital sensorineural hearing loss. AJNR Am J Neuroradiol","volume":"13","author":"MF Mafee","year":"1992"},{"key":"ref2","first-page":"93","article-title":"Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J Mol Endocrinol","volume":"43","author":"S Dossena","year":"2009"},{"key":"ref3","first-page":"710","article-title":"The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch","volume":"447","author":"DB Mount","year":"2004"},{"key":"ref4","first-page":"494","article-title":"The SLC26 gene family of anion transporters and channels. Mol Aspects Med","volume":"34","author":"SL Alper","year":"2013"},{"key":"ref5","first-page":"9","article-title":"The immunohistochemical analysis of pendrin in the mouse inner ear. Hear Res","volume":"195","author":"T Yoshino","year":"2004"},{"key":"ref6","first-page":"3813","article-title":"The Slc26a4 transporter functions as an electroneutral Cl-\/I-\/HCO3- exchanger: role of Slc26a4 and Slc26a6 in I- and HCO3- secretion and in regulation of CFTR in the parotid duct. J Physiol","volume":"586","author":"N Shcheynikov","year":"2008"},{"key":"ref7","first-page":"29","article-title":"Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. Neuro Endocrinol Lett","volume":"29","author":"K Maciaszczyk","year":"2008"},{"key":"ref8","first-page":"1778","article-title":"Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab","volume":"87","author":"JP Taylor","year":"2002"},{"key":"ref9","first-page":"153","article-title":"Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet","volume":"10","author":"LA Everett","year":"2001"},{"key":"ref10","first-page":"F1345","article-title":"Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol","volume":"292","author":"P Wangemann","year":"2007"},{"key":"ref11","first-page":"245","article-title":"A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet","volume":"72","author":"QJ Wang","year":"2007"},{"key":"ref12","first-page":"773","article-title":"SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet","volume":"14","author":"S Albert","year":"2006"},{"key":"ref13","first-page":"160","article-title":"Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet","volume":"67","author":"HJ Park","year":"2005"},{"key":"ref14","first-page":"651","article-title":"Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet","volume":"8","author":"T Yang","year":"2009"},{"key":"ref15","first-page":"14490","article-title":"KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc Natl Acad Sci USA","volume":"107","author":"M Reichold","year":"2010"},{"key":"ref16","first-page":"36040","article-title":"Molecular mechanisms of EAST\/SeSAME syndrome mutations in Kir4.1 (KCNJ10). J Biol Chem","volume":"28","author":"M Sala-Rabanal","year":"2010"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1460-9568.2007.05994.x","article-title":"Spatiotemporal loss of K+ transport proteins in the developing cochlear lateral wall of guinea pigs with hereditary deafness","volume":"27","author":"Z Jin","year":"2008","journal-title":"Eur J Neurosci"},{"key":"ref18","first-page":"C403","article-title":"KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. Am J Physiol Cell Physiol","volume":"282","author":"DC Marcus","year":"2002"},{"key":"ref19","first-page":"F139","article-title":"Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. Am J Physiol Renal Physiol","volume":"294","author":"R Singh","year":"2008"},{"key":"ref20","first-page":"8390","article-title":"A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res","volume":"17","author":"J Grimberg","year":"1989"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"e49984","DOI":"10.1371\/journal.pone.0049984","article-title":"Dai P. Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China","volume":"7(11)","author":"Y Yuan","year":"2012","journal-title":"PLoS One"},{"key":"ref22","first-page":"e64906","article-title":"Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. PLoS One","volume":"8(6)","author":"YC Lu","year":"2013","journal-title":"Jun 3"},{"key":"ref23","first-page":"e22150","article-title":"Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology. PLoS One","volume":"6(7)","author":"YC Lu","year":"2011"},{"key":"ref24","first-page":"599","article-title":"Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat","volume":"30","author":"BY Choi","year":"2009"},{"key":"ref25","first-page":"333","article-title":"Screening of SLC26A4 (PDS) gene in Pendred\u2019s syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet","volume":"66","author":"H Blons","year":"2004"},{"key":"ref26","first-page":"916","article-title":"Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet","volume":"11","author":"K Tsukamoto","year":"2003"},{"key":"ref27","first-page":"281","article-title":"Distinct and novel SLC26A4\/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol Genomics","volume":"38","author":"P Dai","year":"2009"},{"key":"ref28","first-page":"1055","article-title":"Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet","volume":"80","author":"T Yang","year":"2007"},{"key":"ref29","first-page":"1049","article-title":"Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol","volume":"74(9)","author":"L Jonard","year":"2010","journal-title":"Sep"},{"key":"ref30","first-page":"365","article-title":"Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. Genet Test Mol Biomarkers","volume":"15(5)","author":"S Mercer","year":"2011","journal-title":"May"},{"key":"ref31","first-page":"972","article-title":"Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. Otolaryngol Head Neck Surg","volume":"146(6)","author":"K Chen","year":"2012","journal-title":"Jun"},{"key":"ref32","first-page":"85","article-title":"Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome\/enlarged vestibular aqueducts. BMC Med Genet","volume":"14","author":"P Landa","year":"2013","journal-title":"Aug 21"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0108134","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,20]],"date-time":"2018-10-20T04:06:25Z","timestamp":1540008385000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0108134"}},"subtitle":[],"editor":[{"given":"Tao","family":"Cai","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2014,11,5]]},"references-count":32,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2014,11,5]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0108134","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,5]]}}}