Literature DB >> 10364543

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

A Adato, H Kalinski, D Weil, H Chaib, M Korostishevsky, B Bonne-Tamir.   

Abstract

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Year:  1999        PMID： 10364543      PMCID： PMC1378101          DOI： 10.1086/302438

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  17 in total

Review 1.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

2.  Clinical utility gene card for: Usher syndrome.

Authors:  Hanno J Bolz; Anne-Françoise Roux
Journal:  Eur J Hum Genet       Date:  2011-03-09       Impact factor: 4.246

3.  PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Authors:  Inga Ebermann; Jennifer B Phillips; Max C Liebau; Robert K Koenekoop; Bernhard Schermer; Irma Lopez; Ellen Schäfer; Anne-Francoise Roux; Claudia Dafinger; Antje Bernd; Eberhart Zrenner; Mireille Claustres; Bernardo Blanco; Gudrun Nürnberg; Peter Nürnberg; Rebecca Ruland; Monte Westerfield; Thomas Benzing; Hanno J Bolz
Journal:  J Clin Invest       Date:  2010-05-03       Impact factor: 14.808

Review 4.  Strain background effects and genetic modifiers of hearing in mice.

Authors:  Kenneth R Johnson; Qing Yin Zheng; Konrad Noben-Trauth
Journal:  Brain Res       Date:  2006-03-31       Impact factor: 3.252

5.  The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.

Authors:  Ruishuang Geng; Sami Melki; Daniel H-C Chen; Guilian Tian; David N Furness; Tomoko Oshima-Takago; Jakob Neef; Tobias Moser; Charles Askew; Geoff Horwitz; Jeffrey R Holt; Yoshikazu Imanishi; Kumar N Alagramam
Journal:  J Neurosci       Date:  2012-07-11       Impact factor: 6.167

Review 6.  [Genetics of Usher syndrome].

Authors:  H J Bolz
Journal:  Ophthalmologe       Date:  2009-06       Impact factor: 1.059

7.  Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.

Authors:  Guilian Tian; Yun Zhou; Dagmar Hajkova; Masaru Miyagi; Astra Dinculescu; William W Hauswirth; Krzysztof Palczewski; Ruishuang Geng; Kumar N Alagramam; Juha Isosomppi; Eeva-Marja Sankila; John G Flannery; Yoshikazu Imanishi
Journal:  J Biol Chem       Date:  2009-05-07       Impact factor: 5.157

8.  A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.

Authors:  Kathleen S Arnos; Katherine O Welch; Mustafa Tekin; Virginia W Norris; Susan H Blanton; Arti Pandya; Walter E Nance
Journal:  Am J Hum Genet       Date:  2008-07-24       Impact factor: 11.025

9.  Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.

Authors:  Ruishuang Geng; Scott F Geller; Toshinori Hayashi; Catherine A Ray; Thomas A Reh; Olivia Bermingham-McDonogh; Sherri M Jones; Charles G Wright; Sami Melki; Yoshikazu Imanishi; Krzysztof Palczewski; Kumar N Alagramam; John G Flannery
Journal:  Hum Mol Genet       Date:  2009-05-03       Impact factor: 6.150

10.  Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Authors:  T Joensuu; R Hämäläinen; B Yuan; C Johnson; S Tegelberg; P Gasparini; L Zelante; U Pirvola; L Pakarinen; A E Lehesjoki; A de la Chapelle; E M Sankila
Journal:  Am J Hum Genet       Date:  2001-08-27       Impact factor: 11.025
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