Literature DB >> 12114484

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

V Migliosi1, S Modamio-Høybjør, M A Moreno-Pelayo, M Rodríguez-Ballesteros, M Villamar, D Tellería, I Menéndez, F Moreno, I Del Castillo.   

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Year:  2002        PMID： 12114484      PMCID： PMC1735186          DOI： 10.1136/jmg.39.7.502

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


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  41 in total

Review 1.  [Diagnosis and therapy of auditory synaptopathy/neuropathy].

Authors:  T Moser; N Strenzke; A Meyer; A Lesinski-Schiedat; T Lenarz; D Beutner; A Foerst; R Lang-Roth; H von Wedel; M Walger; M Gross; A Keilmann; A Limberger; T Steffens; J Strutz
Journal:  HNO       Date:  2006-11       Impact factor: 1.284

2.  OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Authors:  R Varga; M R Avenarius; P M Kelley; B J Keats; C I Berlin; L J Hood; T G Morlet; S M Brashears; A Starr; E S Cohn; R J H Smith; W J Kimberling
Journal:  J Med Genet       Date:  2005-12-21       Impact factor: 6.318

3.  Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin.

Authors:  Richard J Goodyear; P Kevin Legan; Jeffrey R Christiansen; Bei Xia; Julia Korchagina; Jonathan E Gale; Mark E Warchol; Jeffrey T Corwin; Guy P Richardson
Journal:  J Assoc Res Otolaryngol       Date:  2010-08-31

4.  Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

Authors:  Da-Yong Wang; Yi-Chen Wang; Dominique Weil; Ya-Li Zhao; Shao-Qi Rao; Liang Zong; Yu-Bin Ji; Qiong Liu; Jian-Qiang Li; Huan-Ming Yang; Yan Shen; Cindy Benedict-Alderfer; Qing-Yin Zheng; Christine Petit; Qiu-Ju Wang
Journal:  BMC Med Genet       Date:  2010-05-26       Impact factor: 2.103

Review 5.  Molecular physiology of SPAK and OSR1: two Ste20-related protein kinases regulating ion transport.

Authors:  Kenneth B Gagnon; Eric Delpire
Journal:  Physiol Rev       Date:  2012-10       Impact factor: 37.312

6.  Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.

Authors:  Rosamaria Santarelli; Ignacio Del Castillo; Montserrat Rodríguez-Ballesteros; Pietro Scimemi; Elona Cama; Edoardo Arslan; Arnold Starr
Journal:  J Assoc Res Otolaryngol       Date:  2009-07-28

7.  A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.

Authors:  Chantal Longo-Guess; Leona H Gagnon; David E Bergstrom; Kenneth R Johnson
Journal:  Hear Res       Date:  2007-09-29       Impact factor: 3.208

8.  PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

Authors:  Ellen A Tsai; Micah A Berman; Laura K Conlin; Heidi L Rehm; Lauren J Francey; Matthew A Deardorff; Jenelle Holst; Maninder Kaur; Emily Gallant; Dinah M Clark; Joseph T Glessner; Shane T Jensen; Struan F A Grant; Peter J Gruber; Hakon Hakonarson; Nancy B Spinner; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2013-07-29       Impact factor: 2.802

9.  Calcium regulates molecular interactions of otoferlin with soluble NSF attachment protein receptor (SNARE) proteins required for hair cell exocytosis.

Authors:  Neeliyath A Ramakrishnan; Marian J Drescher; Barbara J Morley; Philip M Kelley; Dennis G Drescher
Journal:  J Biol Chem       Date:  2014-01-29       Impact factor: 5.157

Review 10.  Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Authors:  Rahul Mittal; Amit P Patel; Desiree Nguyen; Debbie R Pan; Vasanti M Jhaveri; Jason R Rudman; Arjuna Dharmaraja; Denise Yan; Yong Feng; Prem Chapagain; David J Lee; Susan H Blanton; Xue Zhong Liu
Journal:  Gene       Date:  2018-01-10       Impact factor: 3.688
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