Literature DB >> 9718356

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

X Z Liu, C Hope, J Walsh, V Newton, X M Ke, C Y Liang, L R Xu, J M Zhou, D Trump, K P Steel, S Bundey, S D Brown.   

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Year:  1998        PMID： 9718356      PMCID： PMC1377414          DOI： 10.1086/302026

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


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  41 in total

1.  Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Authors:  Randall R Fields; Guimei Zhou; Dali Huang; Jack R Davis; Claes Möller; Samuel G Jacobson; William J Kimberling; Janos Sumegi
Journal:  Am J Hum Genet       Date:  2002-07-16       Impact factor: 11.025

Review 2.  Genetics and pathological mechanisms of Usher syndrome.

Authors:  Denise Yan; Xue Z Liu
Journal:  J Hum Genet       Date:  2010-04-09       Impact factor: 3.172

3.  MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

Authors:  T Jaijo; E Aller; M Beneyto; C Najera; C Graziano; D Turchetti; M Seri; C Ayuso; M Baiget; F Moreno; C Morera; H Perez-Garrigues; J M Millan
Journal:  J Med Genet       Date:  2007-03       Impact factor: 6.318

4.  Unconventional myosins at the crossroad of signal transduction and cytoskeleton remodeling.

Authors:  T Soldati; E C Schwarz; H Geissler
Journal:  Protoplasma       Date:  1999       Impact factor: 3.356

5.  A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Authors:  Inga Ebermann; Hendrik P N Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen Lamprecht; Bernhard Jurklies; José M Millán; Elena Aller; Diana Mitter; Hanno Bolz
Journal:  Hum Genet       Date:  2006-12-15       Impact factor: 4.132

Review 6.  Genetic disorders of the vestibular system.

Authors:  Robert W Eppsteiner; Richard J H Smith
Journal:  Curr Opin Otolaryngol Head Neck Surg       Date:  2011-10       Impact factor: 2.064

Review 7.  Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.

Authors:  Pranav Dinesh Mathur; Jun Yang
Journal:  Hear Res       Date:  2019-02-22       Impact factor: 3.208

8.  Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.

Authors:  S Pieke-Dahl; C G Möller; P M Kelley; L M Astuto; C W Cremers; M B Gorin; W J Kimberling
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

Review 9.  Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.

Authors:  Pranav Mathur; Jun Yang
Journal:  Biochim Biophys Acta       Date:  2014-12-04

10.  Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.

Authors:  Imen Ben Rebeh; Madeleine Morinière; Leila Ayadi; Zeineb Benzina; Ilhem Charfedine; Jamel Feki; Hammadi Ayadi; Abdelmonem Ghorbel; Faouzi Baklouti; Saber Masmoudi
Journal:  Mol Vis       Date:  2010-09-30       Impact factor: 2.367
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