Literature DB >> 16400615

USH1A: chronicle of a slow death.

Sylvie Gerber, Dominique Bonneau, Brigitte Gilbert, Arnold Munnich, Jean-Louis Dufier, Jean-Michel Rozet, Josseline Kaplan.   

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Year:  2006        PMID： 16400615      PMCID： PMC1380243          DOI： 10.1086/500275

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


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  15 in total

1.  Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32.

Authors:  J D Eudy; M Ma-Edmonds; S F Yao; C B Talmadge; P M Kelley; M D Weston; W J Kimberling; J Sumegi
Journal:  Genomics       Date:  1997-07-01       Impact factor: 5.736

2.  Genetic heterogeneity of Usher syndrome type 1 in French families.

Authors:  D Larget-Piet; S Gerber; D Bonneau; J M Rozet; S Marc; I Ghazi; J L Dufier; A David; P Bitoun; J Weissenbach
Journal:  Genomics       Date:  1994-05-01       Impact factor: 5.736

3.  Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.

Authors:  G A Fishman; A Kumar; M E Joseph; N Torok; R J Anderson
Journal:  Arch Ophthalmol       Date:  1983-09

4.  Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Authors:  Xiao Mei Ouyang; Denise Yan; Li Lin Du; J Fielding Hejtmancik; Samuel G Jacobson; Walter E Nance; An Ren Li; Simon Angeli; Muriel Kaiser; Valerie Newton; Steve D M Brown; Thomas Balkany; Xue Zhong Liu
Journal:  Hum Genet       Date:  2005-01-20       Impact factor: 4.132

5.  Characterization, chromosomal localization, and the complete 30-kb DNA sequence of the human Jagged2 (JAG2) gene.

Authors:  Y Deng; A Madan; A B Banta; C Friedman; B J Trask; L Hood; L Li
Journal:  Genomics       Date:  2000-01-01       Impact factor: 5.736

6.  Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12.

Authors:  T Oda; A G Elkahloun; P S Meltzer; S C Chandrasekharappa
Journal:  Genomics       Date:  1997-08-01       Impact factor: 5.736

7.  Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Authors:  D Weil; S Blanchard; J Kaplan; P Guilford; F Gibson; J Walsh; P Mburu; A Varela; J Levilliers; M D Weston
Journal:  Nature       Date:  1995-03-02       Impact factor: 49.962

8.  Cloning and genetic characterization of the human kinesin light-chain (KLC) gene.

Authors:  Y Cabeza-Arvelaiz; L C Shih; N Hardman; F Asselbergs; G Bilbe; A Schmitz; B White; M J Siciliano; L B Lachman
Journal:  DNA Cell Biol       Date:  1993-12       Impact factor: 3.311

9.  Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Authors:  W J Kimberling; C G Möller; S Davenport; I A Priluck; P H Beighton; J Greenberg; W Reardon; M D Weston; J B Kenyon; J A Grunkemeyer
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

10.  A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Authors:  J Kaplan; S Gerber; D Bonneau; J M Rozet; O Delrieu; M L Briard; H Dollfus; I Ghazi; J L Dufier; J Frézal
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736
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  14 in total

Review 1.  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

2.  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

3.  Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Authors:  A-F Roux; V Faugère; S Le Guédard; N Pallares-Ruiz; A Vielle; S Chambert; S Marlin; C Hamel; B Gilbert; S Malcolm; M Claustres
Journal:  J Med Genet       Date:  2006-05-05       Impact factor: 6.318

4.  Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Authors:  Mohsin Shahzad; Theru A Sivakumaran; Tanveer A Qaiser; Julie M Schultz; Zawar Hussain; Megan Flanagan; Munir A Bhinder; Diane Kissell; John H Greinwald; Shaheen N Khan; Thomas B Friedman; Kejian Zhang; Saima Riazuddin; Sheikh Riazuddin; Zubair M Ahmed
Journal:  Otolaryngol Head Neck Surg       Date:  2013-06-14       Impact factor: 3.497

5.  Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors.

Authors:  Marisa Zallocchi; Daniel T Meehan; Duane Delimont; Charles Askew; Suneetha Garige; Michael Anne Gratton; Christie A Rothermund-Franklin; Dominic Cosgrove
Journal:  Hear Res       Date:  2009-06-16       Impact factor: 3.208

6.  Loss of dystrophin and the microtubule-binding protein ELP-1 causes progressive paralysis and death of adult C. elegans.

Authors:  Jennifer L Hueston; Kathy A Suprenant
Journal:  Dev Dyn       Date:  2009-08       Impact factor: 3.780

Review 7.  Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.

Authors:  David S Williams
Journal:  Vision Res       Date:  2007-10-23       Impact factor: 1.886

8.  Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Authors:  Crystel Bonnet; M'hamed Grati; Sandrine Marlin; Jacqueline Levilliers; Jean-Pierre Hardelin; Marine Parodi; Magali Niasme-Grare; Diana Zelenika; Marc Délépine; Delphine Feldmann; Laurence Jonard; Aziz El-Amraoui; Dominique Weil; Bruno Delobel; Christophe Vincent; Hélène Dollfus; Marie-Madeleine Eliot; Albert David; Catherine Calais; Jacqueline Vigneron; Bettina Montaut-Verient; Dominique Bonneau; Jacques Dubin; Christel Thauvin; Alain Duvillard; Christine Francannet; Thierry Mom; Didier Lacombe; Françoise Duriez; Valérie Drouin-Garraud; Marie-Françoise Thuillier-Obstoy; Sabine Sigaudy; Anne-Marie Frances; Patrick Collignon; Georges Challe; Rémy Couderc; Mark Lathrop; José-Alain Sahel; Jean Weissenbach; Christine Petit; Françoise Denoyelle
Journal:  Orphanet J Rare Dis       Date:  2011-05-11       Impact factor: 4.123

9.  Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration.

Authors:  Zubair M Ahmed; Sten Kjellstrom; Ricky J L Haywood-Watson; Ronald A Bush; Lori L Hampton; James F Battey; Saima Riazuddin; Gregory Frolenkov; Paul A Sieving; Thomas B Friedman
Journal:  Mol Vis       Date:  2008-12-08       Impact factor: 2.367

10.  The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

Authors:  Ehsan Razmara; Fatemeh Bitarafan; Elika Esmaeilzadeh-Gharehdaghi; Navid Almadani; Masoud Garshasbi
Journal:  Iran J Basic Med Sci       Date:  2018-03       Impact factor: 2.699
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