EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness-Reference-Cited by-同舟云学术

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

Published:2014-04-17 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Behlouli Asma,Bonnet Crystel,Abdi Samia,Bouaita Aïcha,Lelli Andrea,Hardelin Jean-Pierre,Schietroma Cataldo,Rous Yahia,Louha Malek,Cheknane Ahmed,Lebdi Hayet,Boudjelida Kamel,Makrelouf Mohamed,Zenati Akila,Petit Christine

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1750-1172-9-55.pdf

Reference22 articles.

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3. Guilford P, Ayadi H, Blanchard S, Chaib H, le Paslier D, Weissenbach J, Drira M, Petit C: A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet. 1994, 3: 989-993. 10.1093/hmg/3.6.989.

4. Ben Arab S, Hmani M, Denoyelle F, Boulila-Elgaied A, Chardenoux S, Hachicha S, Petit C, Ayadi H: Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates. Clin Genet. 2000, 57: 439-443.

5. Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C: Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci U S A. 2002, 99: 6240-6245. 10.1073/pnas.082515999.

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