El-Amraoui A - Search Results

1

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.

Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Mburu P, et al. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159

2

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.

Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El-Amraoui A, Perfettini I, Legrain P, Richardson G, Hardelin JP, Petit C. Delprat B, et al. Hum Mol Genet. 2005 Feb 1;14(3):401-10. doi: 10.1093/hmg/ddi036. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590698

3

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.

Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. Yasunaga S, et al. Nat Genet. 1999 Apr;21(4):363-9. doi: 10.1038/7693. Nat Genet. 1999. PMID: 10192385

4

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.

El-Amraoui A, Petit C. El-Amraoui A, et al. J Cell Sci. 2005 Oct 15;118(Pt 20):4593-603. doi: 10.1242/jcs.02636. J Cell Sci. 2005. PMID: 16219682 Review.

5

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

Adato A, Lefèvre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C. Adato A, et al. Hum Mol Genet. 2005 Dec 15;14(24):3921-32. doi: 10.1093/hmg/ddi416. Epub 2005 Nov 21. Hum Mol Genet. 2005. PMID: 16301217

6

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR. Dunbar LA, et al. EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26. EMBO Mol Med. 2019. PMID: 31448880 Free PMC article.

7

[Stem cell therapy in the inner ear: recent achievements and prospects].

El-Amraoui A, Petit C. El-Amraoui A, et al. Med Sci (Paris). 2010 Nov;26(11):981-5. doi: 10.1051/medsci/20102611981. Med Sci (Paris). 2010. PMID: 21106181 Free article. Review. French.

8

Targeted disruption of otog results in deafness and severe imbalance.

Simmler MC, Cohen-Salmon M, El-Amraoui A, Guillaud L, Benichou JC, Petit C, Panthier JJ. Simmler MC, et al. Nat Genet. 2000 Feb;24(2):139-43. doi: 10.1038/72793. Nat Genet. 2000. PMID: 10655058

9

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Weil D, et al. Hum Mol Genet. 2003 Mar 1;12(5):463-71. doi: 10.1093/hmg/ddg051. Hum Mol Genet. 2003. PMID: 12588794

10

Interactions in the network of Usher syndrome type 1 proteins.

Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C. Adato A, et al. Hum Mol Genet. 2005 Feb 1;14(3):347-56. doi: 10.1093/hmg/ddi031. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590703

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