Literature DB >> 20447147

The Trp117Arg mutation of the COCH gene causes deafness in Koreans.

J-I Baek, H-J Cho, S-J Choi, L-S Kim, C Zhao, B R Sagong, U-K Kim, S-W Jeong.   

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Year:  2010        PMID： 20447147     DOI： 10.1111/j.1399-0004.2009.01362.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 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.  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

3.  A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Authors:  Hyun-Ju Cho; Hong-Joon Park; Maria Trexler; Hanka Venselaar; Kyu Yup Lee; Nahid G Robertson; Jeong-In Baek; Beom Sik Kang; Cynthia C Morton; Gert Vriend; László Patthy; Un-Kyung Kim
Journal:  J Mol Med (Berl)       Date:  2012-05-19       Impact factor: 4.599

4.  Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Authors:  Jeong-In Baek; Se-Kyung Oh; Dong-Bin Kim; Soo-Young Choi; Un-Kyung Kim; Kyu-Yup Lee; Sang-Heun Lee
Journal:  Orphanet J Rare Dis       Date:  2012-09-03       Impact factor: 4.123

5.  Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

Authors:  Qi Wang; Peipei Fei; Hongbo Gu; Yanmei Zhang; Xiaomei Ke; Yuhe Liu
Journal:  PLoS One       Date:  2017-01-18       Impact factor: 3.240

Review 6.  Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Authors:  Sybren M M Robijn; Jeroen J Smits; Kadriye Sezer; Patrick L M Huygen; Andy J Beynon; Erwin van Wijk; Hannie Kremer; Erik de Vrieze; Cornelis P Lanting; Ronald J E Pennings
Journal:  Biomolecules       Date:  2022-01-27
  6 in total

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