[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Cochlea;
DOI=10.1006/geno.1997.5067; PubMed=9441737 [NCBI, ExPASy, EBI, Israel, Japan]
Robertson N.G.,
Skvorak A.B.,
Yin Y.,
Weremowicz S.,
Johnson K.R.,
Kovatch K.A.,
Battey J.F.,
Bieber F.R.,
Morton C.C.;
"Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.";
Genomics 46:345-354(1997).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
Clark H.F.,
Gurney A.L.,
Abaya E.,
Baker K.,
Baldwin D.T.,
Brush J.,
Chen J.,
Chow B.,
Chui C.,
Crowley C.,
Currell B.,
Deuel B.,
Dowd P.,
Eaton D.,
Foster J.S.,
Grimaldi C.,
Gu Q.,
Hass P.E.,
Heldens S., ![]()
Huang A.,
Kim H.S.,
Klimowski L.,
Jin Y.,
Johnson S.,
Lee J.,
Lewis L.,
Liao D.,
Mark M.R.,
Robbie E.,
Sanchez C.,
Schoenfeld J.,
Seshagiri S.,
Simmons L.,
Singh J.,
Smith V.,
Stinson J.,
Vagts A.,
Vandlen R.L.,
Watanabe C.,
Wieand D.,
Woods K.,
Xie M.-H.,
Yansura D.G.,
Yi S.,
Yu G.,
Yuan J.,
Zhang M.,
Zhang Z.,
Goddard A.D.,
Wood W.I.,
Godowski P.J.,
Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-135; ASN-281; SER-352 AND VAL-402.
SeattleSNPs variation discovery resource;
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
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[4]
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GLYCOSYLATION, SUBCELLULAR LOCATION, AND PROTEOLYTIC PROCESSING.
DOI=10.1136/jmg.40.7.479; PubMed=12843317 [NCBI, ExPASy, EBI, Israel, Japan]
Robertson N.G.,
Hamaker S.A.,
Patriub V.,
Aster J.C.,
Morton C.C.;
"Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.";
J. Med. Genet. 40:479-486(2003).
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[5]
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INTERACTION WITH SLC44A2.
DOI=10.1007/s10162-007-0099-2; PubMed=17926100 [NCBI, ExPASy, EBI, Israel, Japan]
Kommareddi P.K.,
Nair T.S.,
Raphael Y.,
Telian S.A.,
Kim A.H.,
Arts H.A.,
El-Kashlan H.K.,
Carey T.E.;
"Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.";
J. Assoc. Res. Otolaryngol. 8:435-446(2007).
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[6]
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STRUCTURE BY NMR OF 27-126.
DOI=10.1093/emboj/20.19.5347; PubMed=11574466 [NCBI, ExPASy, EBI, Israel, Japan]
Liepinsh E.,
Trexler M.,
Kaikkonen A.,
Weigelt J.,
Banyai L.,
Patthy L.,
Otting G.;
"NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.";
EMBO J. 20:5347-5353(2001).
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[7]
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VARIANTS DFNA9 GLY-66; GLU-88 AND ARG-117.
DOI=10.1038/3118; PubMed=9806553 [NCBI, ExPASy, EBI, Israel, Japan]
Robertson N.G.,
Lu L.,
Heller S.,
Merchant S.N.,
Eavey R.D.,
McKenna M.,
Nadol J.B. Jr.,
Miyamoto R.T.,
Linthicum F.H. Jr.,
Neto J.F.L.,
Hudspeth A.J.,
Seidman C.E.,
Morton C.C.,
Seidman J.G.;
"Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.";
Nat. Genet. 20:299-303(1998).
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[8]
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VARIANT DFNA9 SER-51.
DOI=10.1093/hmg/8.2.361; PubMed=9931344 [NCBI, ExPASy, EBI, Israel, Japan]
de Kok Y.J.M.,
Bom S.J.H.,
Brunt T.M.,
Kemperman M.H.,
van Beusekom E.,
van der Velde-Visser S.D.,
Robertson N.G.,
Morton C.C.,
Huygen P.L.M.,
Verhagen W.I.M.,
Brunner H.G.,
Cremers C.W.R.J.,
Cremers F.P.M.;
"A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.";
Hum. Mol. Genet. 8:361-366(1999).
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[9]
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VARIANT DFNA9 SER-51.
DOI=10.1093/hmg/8.8.1425; PubMed=10400989 [NCBI, ExPASy, EBI, Israel, Japan]
Fransen E.,
Verstreken M.,
Verhagen W.I.M.,
Wuyts F.L.,
Huygen P.L.M.,
D'Haese P.,
Robertson N.G.,
Morton C.C.,
McGuirt W.T.,
Smith R.J.H.,
Declau F.,
Van de Heyning P.H.,
Van Camp G.;
"High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene.";
Hum. Mol. Genet. 8:1425-1429(1999).
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[10]
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VARIANT DFNA9 ASN-109.
DOI=10.1002/humu.37; PubMed=11295836 [NCBI, ExPASy, EBI, Israel, Japan]
Kamarinos M.,
McGill J.,
Lynch M.,
Dahl H.-H.M.;
"Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.";
Hum. Mutat. 17:351-351(2001).
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[11]
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ERRATUM.
Kamarinos M.,
McGill J.,
Lynch M.,
Dahl H.-H.M.;
Hum. Mutat. 18:547-548(2001).
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[12]
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VARIANT DFNA9 THR-119.
DOI=10.1038/sj.ejhg.5201043; PubMed=14512963 [NCBI, ExPASy, EBI, Israel, Japan]
Usami S.,
Takahashi K.,
Yuge I.,
Ohtsuka A.,
Namba A.,
Abe S.,
Fransen E.,
Patthy L.,
Otting G.,
Van Camp G.;
"Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.";
Eur. J. Hum. Genet. 11:744-748(2003).
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[13]
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CHARACTERIZATION OF VARIANTS DFNA9 SER-51; GLY-66; GLU-88; ASN-109 AND ARG-117.
DOI=10.1007/s00439-003-0992-7; PubMed=12928864 [NCBI, ExPASy, EBI, Israel, Japan]
Grabski R.,
Szul T.,
Sasaki T.,
Timpl R.,
Mayne R.,
Hicks B.,
Sztul E.;
"Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.";
Hum. Genet. 113:406-416(2003).
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[14]
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DISEASE.
DOI=10.1097/00129492-200109000-00009; PubMed=11568667 [NCBI, ExPASy, EBI, Israel, Japan]
Boulassel M.-R.,
Tomasi J.-P.,
Deggouj N.,
Gersdorff M.;
"COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases.";
Otol. Neurotol. 22:614-618(2001).
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