PubMed (cited) for id: 603196

Year	Number of Results
1994	1
1996	1
1997	1
1998	1
1999	2
2001	2
2003	2
2005	2
2006	1
2008	1
2009	1
2010	1
2011	1
2012	1
2013	1
2018	1
2024	0

1

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W. JanssensdeVarebeke SPF, et al. Eur J Hum Genet. 2018 Apr;26(4):587-591. doi: 10.1038/s41431-017-0066-2. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449721 Free PMC article.

2

Cochlin produced by follicular dendritic cells promotes antibacterial innate immunity.

Py BF, Gonzalez SF, Long K, Kim MS, Kim YA, Zhu H, Yao J, Degauque N, Villet R, Ymele-Leki P, Gadjeva M, Pier GB, Carroll MC, Yuan J. Py BF, et al. Immunity. 2013 May 23;38(5):1063-72. doi: 10.1016/j.immuni.2013.01.015. Epub 2013 May 16. Immunity. 2013. PMID: 23684986 Free PMC article.

3

Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.

Crovetto MA, Whyte J, Sarasola E, Rodriguez JA, García-Barcina MJ. Crovetto MA, et al. Am J Med Genet A. 2012 Jan;158A(1):251-3. doi: 10.1002/ajmg.a.34377. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22139968 No abstract available.

4

Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.

Chance MR, Chang J, Liu S, Gokulrangan G, Chen DH, Lindsay A, Geng R, Zheng QY, Alagramam K. Chance MR, et al. Hum Mol Genet. 2010 Apr 15;19(8):1515-27. doi: 10.1093/hmg/ddq025. Epub 2010 Jan 22. Hum Mol Genet. 2010. PMID: 20097680 Free PMC article.

5

Mutation in the COCH gene is associated with superior semicircular canal dehiscence.

Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PL, Casavant TL, Smith RJ. Hildebrand MS, et al. Am J Med Genet A. 2009 Feb;149A(2):280-5. doi: 10.1002/ajmg.a.32618. Am J Med Genet A. 2009. PMID: 19161137 Free PMC article. No abstract available.

6

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

Yuan HJ, Han DY, Sun Q, Yan D, Sun HJ, Tao R, Cheng J, Qin W, Angeli S, Ouyang XM, Yang SZ, Feng L, Cao JY, Feng GY, Wang YF, Dai P, Zhai SQ, Yang WY, He L, Liu XZ. Yuan HJ, et al. Clin Genet. 2008 Apr;73(4):391-4. doi: 10.1111/j.1399-0004.2008.00972.x. Epub 2008 Feb 27. Clin Genet. 2008. PMID: 18312449 No abstract available.

7

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

Robertson NG, Cremers CW, Huygen PL, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol JB Jr, Sarracino DA, Verhagen WI, Morton CC. Robertson NG, et al. Hum Mol Genet. 2006 Apr 1;15(7):1071-85. doi: 10.1093/hmg/ddl022. Epub 2006 Feb 15. Hum Mol Genet. 2006. PMID: 16481359

8

A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.

Street VA, Kallman JC, Robertson NG, Kuo SF, Morton CC, Phillips JO. Street VA, et al. Am J Med Genet A. 2005 Dec 1;139A(2):86-95. doi: 10.1002/ajmg.a.30980. Am J Med Genet A. 2005. PMID: 16261627

9

Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.

Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ. Makishima T, et al. Hum Genet. 2005 Oct;118(1):29-34. doi: 10.1007/s00439-005-0001-4. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16078052

10

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.

Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G. Usami S, et al. Eur J Hum Genet. 2003 Oct;11(10):744-8. doi: 10.1038/sj.ejhg.5201043. Eur J Hum Genet. 2003. PMID: 14512963

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