Literature DB >> 18312449

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

H J Yuan, D Y Han, Q Sun, D Yan, H J Sun, R Tao, J Cheng, W Qin, S Angeli, X M Ouyang, S Z Yang, L Feng, J Y Cao, G Y Feng, Y F Wang, P Dai, S Q Zhai, W Y Yang, L He, X Z Liu.   

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Year:  2008        PMID： 18312449     DOI： 10.1111/j.1399-0004.2008.00972.x

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


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  13 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.  A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.

Authors:  Michael S Hildebrand; Luke Gandolfo; A Eliot Shearer; Jennifer A Webster; Maren Jensen; William J Kimberling; Dietrich Stephan; Patrick L M Huygen; Richard J H Smith; Melanie Bahlo
Journal:  Laryngoscope       Date:  2010-12       Impact factor: 3.325

3.  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

4.  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

5.  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

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

Authors:  Michael S Hildebrand; Dylan Tack; Adam Deluca; In Ae Hur; Jana M Van Rybroek; Sarah J McMordie; Ann Muilenburg; David P Hoskinson; Guy Van Camp; Myles L Pensak; Ian S Storper; Patrick L M Huygen; Thomas L Casavant; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

Review 7.  The genetic bases for non-syndromic hearing loss among Chinese.

Authors:  Xiao Mei Ouyang; Denise Yan; Hui Jun Yuan; Dai Pu; Li Lin Du; Don Yi Han; Xue Zhong Liu
Journal:  J Hum Genet       Date:  2009-02-06       Impact factor: 3.172

Review 8.  Advances in genome editing for genetic hearing loss.

Authors:  Ning Ding; Sangsin Lee; Matan Lieber-Kotz; Jie Yang; Xue Gao
Journal:  Adv Drug Deliv Rev       Date:  2020-05-07       Impact factor: 15.470

9.  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

10.  Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.

Authors:  Jonas De Belder; Stijn Matthysen; Annes J Claes; Griet Mertens; Paul Van de Heyning; Vincent Van Rompaey
Journal:  Front Neurosci       Date:  2018-01-09       Impact factor: 4.677
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