{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T08:22:10Z","timestamp":1760170930238},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2015,2,10]],"date-time":"2015-02-10T00:00:00Z","timestamp":1423526400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1007\/s00439-015-1532-y","type":"journal-article","created":{"date-parts":[[2015,2,9]],"date-time":"2015-02-09T06:09:36Z","timestamp":1423462176000},"page":"423-437","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss"],"prefix":"10.1007","volume":"134","author":[{"given":"Gowri","family":"Nayak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lukas","family":"Varga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Trincot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohsin","family":"Shahzad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penelope L.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iwar","family":"Klimes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"John H.","family":"Greinwald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. Amer","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivica","family":"Masindova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milan","family":"Profant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaheen N.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas B.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zubair M.","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Gasperikova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheikh","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saima","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,2,10]]},"reference":[{"key":"1532_CR1","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/humu.10254","volume":"22","author":"SS Abeysinghe","year":"2003","unstructured":"Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN (2003) Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum Mutat 22:229\u2013244. doi:\n                    10.1002\/humu.10254","journal-title":"Hum Mutat"},{"key":"1532_CR2","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1086\/321277","volume":"69","author":"ZM Ahmed","year":"2001","unstructured":"Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69:25\u201334. doi:\n                    10.1086\/321277","journal-title":"Am J Hum Genet"},{"key":"1532_CR3","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1093\/hmg\/ddg210","volume":"12","author":"T Ben-Yosef","year":"2003","unstructured":"Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB (2003) Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 12:2049\u20132061","journal-title":"Hum Mol Genet"},{"key":"1532_CR4","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.ajhg.2010.12.011","volume":"88","author":"G Borck","year":"2011","unstructured":"Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nurnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nurnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Muller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C (2011) Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet 88:127\u2013137. doi:\n                    10.1016\/j.ajhg.2010.12.011","journal-title":"Am J Hum Genet"},{"key":"1532_CR5","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1007\/s10038-007-0209-3","volume":"53","author":"MS Chishti","year":"2008","unstructured":"Chishti MS, Bhatti A, Tamim S, Lee K, McDonald ML, Leal SM, Ahmad W (2008) Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. J Hum Genet 53:101\u2013105. doi:\n                    10.1007\/s10038-007-0209-3","journal-title":"J Hum Genet"},{"key":"1532_CR6","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1038\/333272a0","volume":"333","author":"S Citi","year":"1988","unstructured":"Citi S, Sabanay H, Jakes R, Geiger B, Kendrick-Jones J (1988) Cingulin, a new peripheral component of tight junctions. Nature 333:272\u2013276. doi:\n                    10.1038\/333272a0","journal-title":"Nature"},{"key":"1532_CR7","doi-asserted-by":"publisher","first-page":"7051","DOI":"10.1523\/JNEUROSCI.1640-04.2004","volume":"24","author":"A Gow","year":"2004","unstructured":"Gow A, Davies C, Southwood CM, Frolenkov G, Chrustowski M, Ng L, Yamauchi D, Marcus DC, Kachar B (2004) Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function. J Neurosci 24:7051\u20137062. doi:\n                    10.1523\/JNEUROSCI.1640-04.2004","journal-title":"J Neurosci"},{"key":"1532_CR8","doi-asserted-by":"publisher","first-page":"8390","DOI":"10.1093\/nar\/17.20.8390","volume":"17","author":"J Grimberg","year":"1989","unstructured":"Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A (1989) A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 17:8390","journal-title":"Nucleic Acids Res"},{"key":"1532_CR9","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/BF01181652","volume":"5","author":"RL Gulley","year":"1976","unstructured":"Gulley RL, Reese TS (1976) Intercellular junctions in the reticular lamina of the organ of Corti. J Neurocytol 5:479\u2013507","journal-title":"J Neurocytol"},{"key":"1532_CR10","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1242\/jcs.116442","volume":"126","author":"T Higashi","year":"2013","unstructured":"Higashi T, Tokuda S, Kitajiri S, Masuda S, Nakamura H, Oda Y, Furuse M (2013) Analysis of the \u2018angulin\u2019 proteins LSR, ILDR1 and ILDR2\u2013tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. J Cell Sci 126:966\u2013977. doi:\n                    10.1242\/jcs.116442","journal-title":"J Cell Sci"},{"key":"1532_CR11","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1083\/jcb.200510043","volume":"171","author":"J Ikenouchi","year":"2005","unstructured":"Ikenouchi J, Furuse M, Furuse K, Sasaki H, Tsukita S, Tsukita S (2005) Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. J Cell Biol 171:939\u2013945. doi:\n                    10.1083\/jcb.200510043","journal-title":"J Cell Biol"},{"key":"1532_CR12","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/BF00306733","volume":"147","author":"K Jahnke","year":"1975","unstructured":"Jahnke K (1975) Intercellular junctions in the guinea pig stria vascularis as shown by freeze-etching (author\u2019s transl). Anat Embryol (Berl) 147:189\u2013201","journal-title":"Anat Embryol (Berl)"},{"key":"1532_CR13","first-page":"169","volume":"49","author":"A Khasnis","year":"2003","unstructured":"Khasnis A, Gokula RM (2003) Romberg\u2019s test. J Postgrad Med 49:169\u2013172","journal-title":"J Postgrad Med"},{"key":"1532_CR14","doi-asserted-by":"publisher","first-page":"5087","DOI":"10.1242\/jcs.01393","volume":"117","author":"S Kitajiri","year":"2004","unstructured":"Kitajiri S, Miyamoto T, Mineharu A, Sonoda N, Furuse K, Hata M, Sasaki H, Mori Y, Kubota T, Ito J, Furuse M, Tsukita S (2004a) Compartmentalization established by claudin-11-based tight junctions in stria vascularis is required for hearing through generation of endocochlear potential. J Cell Sci 117:5087\u20135096. doi:\n                    10.1242\/jcs.01393","journal-title":"J Cell Sci"},{"key":"1532_CR15","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/S0378-5955(03)00338-1","volume":"187","author":"SI Kitajiri","year":"2004","unstructured":"Kitajiri SI, Furuse M, Morita K, Saishin-Kiuchi Y, Kido H, Ito J, Tsukita S (2004b) Expression patterns of claudins, tight junction adhesion molecules, in the inner ear. Hear Res 187:25\u201334","journal-title":"Hear Res"},{"key":"1532_CR16","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/ajmg.a.34407","volume":"158A","author":"K Lee","year":"2012","unstructured":"Lee K, Ansar M, Andrade PB, Khan B, Santos-Cortez RL, Ahmad W, Leal SM (2012) Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. Am J Med Genet A 158A:315\u2013321. doi:\n                    10.1002\/ajmg.a.34407","journal-title":"Am J Med Genet A"},{"key":"1532_CR17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu474","author":"EL Morozko","year":"2014","unstructured":"Morozko EL, Nishio A, Ingham NJ, Chandra R, Fitzgerald T, Martelletti E, Borck G, Wilson E, Riordan GP, Wangemann P, Forge A, Steel KP, Liddle RA, Friedman TB, Belyantseva IA (2014) ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. Hum Mol Genet. doi:\n                    10.1093\/hmg\/ddu474","journal-title":"Hum Mol Genet"},{"key":"1532_CR18","doi-asserted-by":"publisher","first-page":"e1000610","DOI":"10.1371\/journal.pgen.1000610","volume":"5","author":"Y Nakano","year":"2009","unstructured":"Nakano Y, Kim SH, Kim HM, Sanneman JD, Zhang Y, Smith RJ, Marcus DC, Wangemann P, Nessler RA, Banfi B (2009) A claudin-9-based ion permeability barrier is essential for hearing. PLoS Genet 5:e1000610. doi:\n                    10.1371\/journal.pgen.1000610","journal-title":"PLoS Genet"},{"key":"1532_CR19","doi-asserted-by":"publisher","first-page":"4036","DOI":"10.1172\/JCI69031","volume":"123","author":"G Nayak","year":"2013","unstructured":"Nayak G, Lee SI, Yousaf R, Edelmann SE, Trincot C, Van Itallie CM, Sinha GP, Rafeeq M, Jones SM, Belyantseva IA, Anderson JM, Forge A, Frolenkov GI, Riazuddin S (2013) Tricellulin deficiency affects tight junction architecture and cochlear hair cells. J Clin Invest 123:4036\u20134049. doi:\n                    10.1172\/JCI69031","journal-title":"J Clin Invest"},{"key":"1532_CR20","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1002\/cm.970180307","volume":"18","author":"Y Raphael","year":"1991","unstructured":"Raphael Y, Altschuler RA (1991) Reorganization of cytoskeletal and junctional proteins during cochlear hair cell degeneration. Cell Motil Cytoskeleton 18:215\u2013227. doi:\n                    10.1002\/cm.970180307","journal-title":"Cell Motil Cytoskeleton"},{"key":"1532_CR21","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1086\/510022","volume":"79","author":"S Riazuddin","year":"2006","unstructured":"Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB (2006) Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet 79:1040\u20131051. doi:\n                    10.1086\/510022","journal-title":"Am J Hum Genet"},{"key":"1532_CR22","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1111\/j.1399-0004.2011.01817.x","volume":"82","author":"D Safka Brozkova","year":"2012","unstructured":"Safka Brozkova D, Lastuvkova J, Stepankova H, Krutova M, Trkova M, Myska P, Seeman P (2012) DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population. Clin Genet 82:579\u2013582. doi:\n                    10.1111\/j.1399-0004.2011.01817.x","journal-title":"Clin Genet"},{"key":"1532_CR23","doi-asserted-by":"publisher","first-page":"C1213","DOI":"10.1152\/ajpcell.00558.2003","volume":"286","author":"EE Schneeberger","year":"2004","unstructured":"Schneeberger EE, Lynch RD (2004) The tight junction: a multifunctional complex. Am J Physiol Cell Physiol 286:C1213\u2013C1228. doi:\n                    10.1152\/ajpcell.00558.2003","journal-title":"Am J Physiol Cell Physiol"},{"key":"1532_CR24","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.tcb.2009.12.002","volume":"20","author":"E Steed","year":"2010","unstructured":"Steed E, Balda MS, Matter K (2010) Dynamics and functions of tight junctions. Trends Cell Biol 20:142\u2013149. doi:\n                    10.1016\/j.tcb.2009.12.002","journal-title":"Trends Cell Biol"},{"key":"1532_CR25","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/35067088","volume":"2","author":"S Tsukita","year":"2001","unstructured":"Tsukita S, Furuse M, Itoh M (2001) Multifunctional strands in tight junctions. Nat Rev Mol Cell Biol 2:285\u2013293. doi:\n                    10.1038\/35067088","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1532_CR26","doi-asserted-by":"publisher","first-page":"6930","DOI":"10.1038\/onc.2008.344","volume":"27","author":"S Tsukita","year":"2008","unstructured":"Tsukita S, Yamazaki Y, Katsuno T, Tamura A, Tsukita S (2008) Tight junction-based epithelial microenvironment and cell proliferation. Oncogene 27:6930\u20136938. doi:\n                    10.1038\/onc.2008.344","journal-title":"Oncogene"},{"key":"1532_CR27","doi-asserted-by":"publisher","first-page":"2057","DOI":"10.1007\/s00018-010-0313-y","volume":"67","author":"JK Westphal","year":"2010","unstructured":"Westphal JK, Dorfel MJ, Krug SM, Cording JD, Piontek J, Blasig IE, Tauber R, Fromm M, Huber O (2010) Tricellulin forms homomeric and heteromeric tight junctional complexes. Cell Mol Life Sci 67:2057\u20132068. doi:\n                    10.1007\/s00018-010-0313-y","journal-title":"Cell Mol Life Sci"},{"key":"1532_CR28","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/S0092-8674(01)00200-8","volume":"104","author":"ER Wilcox","year":"2001","unstructured":"Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB (2001) Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 104:165\u2013172","journal-title":"Cell"},{"key":"1532_CR29","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1186\/1750-1172-8-85","volume":"8","author":"T Yang","year":"2013","unstructured":"Yang T, Wei X, Chai Y, Li L, Wu H (2013) Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis 8:85","journal-title":"Orphanet J Rare Dis"},{"key":"1532_CR30","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s002329900380","volume":"163","author":"AS Yap","year":"1998","unstructured":"Yap AS, Mullin JM, Stevenson BR (1998) Molecular analyses of tight junction physiology: insights and paradoxes. J Membr Biol 163:159\u2013167","journal-title":"J Membr Biol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-015-1532-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-015-1532-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-015-1532-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-015-1532-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T22:41:36Z","timestamp":1581979296000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-015-1532-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,10]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["1532"],"URL":"https:\/\/doi.org\/10.1007\/s00439-015-1532-y","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,10]]},"assertion":[{"value":"2 January 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2015","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 February 2015","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}