Literature DB >> 10868209

Genetic heterogeneity of Usher syndrome.

W J Kimberling1, D Orten, S Pieke-Dahl.   

Abstract

Progress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most important two senses and a better understanding of the genes involved should not only help the families with US but will also provide much needed basic information about the hearing and visual systems.

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Year:  2000        PMID: 10868209     DOI: 10.1159/000059077

Source DB:  PubMed          Journal:  Adv Otorhinolaryngol        ISSN: 0065-3071


  5 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.  Perspective on genes and mutations causing retinitis pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Arch Ophthalmol       Date:  2007-02

3.  Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Authors:  Prasanthi Namburi; Rinki Ratnapriya; Samer Khateb; Csilla H Lazar; Yael Kinarty; Alexey Obolensky; Inbar Erdinest; Devorah Marks-Ohana; Eran Pras; Tamar Ben-Yosef; Hadas Newman; Menachem Gross; Anand Swaroop; Eyal Banin; Dror Sharon
Journal:  Am J Hum Genet       Date:  2016-09-01       Impact factor: 11.025

4.  "Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I.

Authors:  Magnus Teschner; Juergen Neuburger; Roland Gockeln; Thomas Lenarz; Anke Lesinski-Schiedat
Journal:  Eur Arch Otorhinolaryngol       Date:  2007-12-06       Impact factor: 2.503

Review 5.  Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.

Authors:  Meg Whatley; Abbie Francis; Zi Ying Ng; Xin Ee Khoh; Marcus D Atlas; Rodney J Dilley; Elaine Y M Wong
Journal:  Front Genet       Date:  2020-10-22       Impact factor: 4.599

  5 in total

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