Literature DB >> 10868220

Mutations in COCH (formerly Coch5b2) cause DFNA9.

R D Eavey1, E N Manolis, J Lubianca, S Merchant, J G Seidman, C Seidman.   

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Year:  2000        PMID: 10868220     DOI: 10.1159/000059070

Source DB:  PubMed          Journal:  Adv Otorhinolaryngol        ISSN: 0065-3071


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  3 in total

1.  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

2.  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

3.  Gene expression profiling elucidates a specific role for RARgamma in the retinoic acid-induced differentiation of F9 teratocarcinoma stem cells.

Authors:  Dan Su; Lorraine J Gudas
Journal:  Biochem Pharmacol       Date:  2007-11-22       Impact factor: 5.858

  3 in total

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