Literature DB >> 19161137

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

Michael S Hildebrand1, 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.   

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Year:  2009        PMID： 19161137      PMCID： PMC2632720          DOI： 10.1002/ajmg.a.32618

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  35 in total

1.  Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.

Authors:  Martijn H Kemperman; Els M R De Leenheer; Patrick L M Huygen; Gerard van Duijnhoven; Cynthia C Morton; Nahid G Robertson; Frans P M Cremers; Hannie Kremer; Cor W R J Cremers
Journal:  Otol Neurotol       Date:  2005-09       Impact factor: 2.311

2.  Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.

Authors:  Anne M L C Bischoff; Patrick L M Huygen; Martijn H Kemperman; Ronald J E Pennings; Steven J H Bom; Wim I M Verhagen; Ronald J C Admiraal; Hannie Kremer; Cor W R J Cremers
Journal:  Otol Neurotol       Date:  2005-09       Impact factor: 2.311

Review 3.  Genetic epidemiology of hearing impairment.

Authors:  N E Morton
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

4.  A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

Authors:  Y J de Kok; S J Bom; T M Brunt; M H Kemperman; E van Beusekom; S D van der Velde-Visser; N G Robertson; C C Morton; P L Huygen; W I Verhagen; H G Brunner; C W Cremers; F P Cremers
Journal:  Hum Mol Genet       Date:  1999-02       Impact factor: 6.150

5.  Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.

Authors:  S J Bom; M H Kemperman; Y J De Kok; P L Huygen; W I Verhagen; F P Cremers; C W Cremers
Journal:  Laryngoscope       Date:  1999-09       Impact factor: 3.325

6.  High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.

Authors:  E Fransen; M Verstreken; W I Verhagen; F L Wuyts; P L Huygen; P D'Haese; N G Robertson; C C Morton; W T McGuirt; R J Smith; F Declau; P H Van de Heyning; G Van Camp
Journal:  Hum Mol Genet       Date:  1999-08       Impact factor: 6.150

7.  Operative management of superior semicircular canal dehiscence.

Authors:  Anthony A Mikulec; Dennis S Poe; Michael J McKenna
Journal:  Laryngoscope       Date:  2005-03       Impact factor: 3.325

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

Authors:  I Nagy; M Horváth; M Trexler; G Répássy; L Patthy
Journal:  J Med Genet       Date:  2004-01       Impact factor: 6.318

9.  Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.

Authors:  N G Robertson; L Lu; S Heller; S N Merchant; R D Eavey; M McKenna; J B Nadol; R T Miyamoto; F H Linthicum; J F Lubianca Neto; A J Hudspeth; C E Seidman; C C Morton; J G Seidman
Journal:  Nat Genet       Date:  1998-11       Impact factor: 38.330

10.  Superior semicircular canal dehiscence presenting as conductive hearing loss without vertigo.

Authors:  Anthony A Mikulec; Michael J McKenna; Mitchell J Ramsey; John J Rosowski; Barbara S Herrmann; Steven D Rauch; Hugh D Curtin; Saumil N Merchant
Journal:  Otol Neurotol       Date:  2004-03       Impact factor: 2.311
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  11 in total

1.  Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Authors:  A Eliot Shearer; Adam P DeLuca; Michael S Hildebrand; Kyle R Taylor; José Gurrola; Steve Scherer; Todd E Scheetz; Richard J H Smith
Journal:  Proc Natl Acad Sci U S A       Date:  2010-11-15       Impact factor: 11.205

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

Review 3.  Dehiscence of the superior semicircular canal: a review of the literature on its possible pathogenic explanations.

Authors:  Cristina Brandolini; Giovanni Carlo Modugno; Antonio Pirodda
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-04-18       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.  [Dehiscence syndromes : Diagnosis and treatment].

Authors:  A Ernst; I Todt; J Wagner
Journal:  HNO       Date:  2016-11       Impact factor: 1.284

6.  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

7.  DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Authors:  Michael S Hildebrand; Matías Morín; Nicole C Meyer; Fernando Mayo; Silvia Modamio-Hoybjor; Angeles Mencía; Leticia Olavarrieta; Carmelo Morales-Angulo; Carla J Nishimura; Heather Workman; Adam P DeLuca; Ignacio del Castillo; Kyle R Taylor; Bruce Tompkins; Corey W Goodman; Isabelle Schrauwen; Maarten Van Wesemael; K Lachlan; A Eliot Shearer; Terry A Braun; Patrick L M Huygen; Hannie Kremer; Guy Van Camp; Felipe Moreno; Thomas L Casavant; Richard J H Smith; Miguel A Moreno-Pelayo
Journal:  Hum Mutat       Date:  2011-06-07       Impact factor: 4.878

Review 8.  A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

Authors:  Michael S Hildebrand; Adam P DeLuca; Kyle R Taylor; David P Hoskinson; In Ae Hur; Dylan Tack; Sarah J McMordie; Patrick L M Huygen; Thomas L Casavant; Richard J H Smith
Journal:  Laryngoscope       Date:  2009-11       Impact factor: 3.325

9.  Perspectives in vestibular diagnostics and therapy.

Authors:  Arneborg Ernst
Journal:  GMS Curr Top Otorhinolaryngol Head Neck Surg       Date:  2012-04-26

10.  Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Authors:  Thomas Parzefall; Alexandra Frohne; Martin Koenighofer; Andreas Kirchnawy; Berthold Streubel; Christian Schoefer; Wolfgang Gstoettner; Klemens Frei; Trevor Lucas
Journal:  Wien Klin Wochenschr       Date:  2017-07-21       Impact factor: 1.704
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