Literature DB >> 14729849

A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss.

I Nagy1, M Horváth, M Trexler, G Répássy, L Patthy.   

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Year:  2004        PMID： 14729849      PMCID： PMC1757273          DOI： 10.1136/jmg.2003.012286

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  19 in total

1.  Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.

Authors:  Sherri M Jones; Nahid G Robertson; Shelly Given; Anne B S Giersch; M Charles Liberman; Cynthia C Morton
Journal:  Hear Res       Date:  2010-11-10       Impact factor: 3.208

2.  Distinct vestibular phenotypes in DFNA9 families with COCH variants.

Authors:  Bong Jik Kim; Ah Reum Kim; Kyu-Hee Han; Yoon Chan Rah; Jaihwan Hyun; Brandon S Ra; Ja-Won Koo; Byung Yoon Choi
Journal:  Eur Arch Otorhinolaryngol       Date:  2016-01-13       Impact factor: 2.503

3.  Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.

Authors:  Seung-Hyun Bae; Nahid G Robertson; Hyun-Ju Cho; Cynthia C Morton; Da Jung Jung; Jeong-In Baek; Soo-Young Choi; Jaetae Lee; Kyu-Yup Lee; Un-Kyung Kim
Journal:  Hum Mutat       Date:  2014-12       Impact factor: 4.878

4.  Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Authors:  Andrea M Oza; Marina T DiStefano; Sarah E Hemphill; Brandon J Cushman; Andrew R Grant; Rebecca K Siegert; Jun Shen; Alex Chapin; Nicole J Boczek; Lisa A Schimmenti; Jaclyn B Murry; Linda Hasadsri; Kiyomitsu Nara; Margaret Kenna; Kevin T Booth; Hela Azaiez; Andrew Griffith; Karen B Avraham; Hannie Kremer; Heidi L Rehm; Sami S Amr; Ahmad N Abou Tayoun
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

5.  A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Authors:  D Yan; X Ke; S H Blanton; X M Ouyang; A Pandya; L L Du; W E Nance; X Z Liu
Journal:  J Med Genet       Date:  2005-06-15       Impact factor: 6.318

6.  Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.

Authors:  Nahid G Robertson; Jennifer T O'Malley; Cheng Ai Ong; Anne B S Giersch; Jun Shen; Konstantina M Stankovic; Cynthia C Morton
Journal:  J Assoc Res Otolaryngol       Date:  2014-07-22

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

Authors:  Tomoko Makishima; Clara I Rodriguez; Nahid G Robertson; Cynthia C Morton; Colin L Stewart; Andrew J Griffith
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

8.  A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.

Authors:  Nahid G Robertson; Sherri M Jones; Theru A Sivakumaran; Anne B S Giersch; Sara A Jurado; Linda M Call; Constance E Miller; Stéphane F Maison; M Charles Liberman; Cynthia C Morton
Journal:  Hum Mol Genet       Date:  2008-08-12       Impact factor: 6.150

9.  Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.

Authors:  P K Kommareddi; T S Nair; Y Raphael; S A Telian; A H Kim; H A Arts; H K El-Kashlan; T E Carey
Journal:  J Assoc Res Otolaryngol       Date:  2007-10-10

Review 10.  Cochlin in the eye: functional implications.

Authors:  Renata Picciani; Kavita Desai; Jasenka Guduric-Fuchs; Tiziana Cogliati; Cynthia C Morton; Sanjoy K Bhattacharya
Journal:  Prog Retin Eye Res       Date:  2007-06-22       Impact factor: 21.198
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