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Items: 23

1.

Cochlear outer hair cell horizontal top connectors mediate mature stereocilia bundle mechanics.

Cartagena-Rivera AX, Le Gal S, Richards K, Verpy E, Chadwick RS.

Sci Adv. 2019 Feb 20;5(2):eaat9934. doi: 10.1126/sciadv.aat9934. eCollection 2019 Feb.

2.

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells.

Kamiya K, Michel V, Giraudet F, Riederer B, Foucher I, Papal S, Perfettini I, Le Gal S, Verpy E, Xia W, Seidler U, Georgescu MM, Avan P, El-Amraoui A, Petit C.

Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9307-12. doi: 10.1073/pnas.1405322111. Epub 2014 Jun 11.

3.

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

Bonnet C, Louha M, Loundon N, Michalski N, Verpy E, Smagghe L, Hardelin JP, Rouillon I, Jonard L, Couderc R, Gherbi S, Garabedian EN, Denoyelle F, Petit C, Marlin S.

Gene. 2013 Sep 25;527(2):537-40. doi: 10.1016/j.gene.2013.06.044. Epub 2013 Jul 11.

PMID:
23850727
4.

Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane.

Verpy E, Leibovici M, Michalski N, Goodyear RJ, Houdon C, Weil D, Richardson GP, Petit C.

J Comp Neurol. 2011 Feb 1;519(2):194-210. doi: 10.1002/cne.22509.

5.

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.

Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefèvre GM, Hardelin JP, Richardson GP, Avan P, Petit C.

Nature. 2008 Nov 13;456(7219):255-8. doi: 10.1038/nature07380. Epub 2008 Oct 8.

6.

Detection of mutations by fluorescence-assisted mismatch analysis (FAMA).

Tosi M, Verpy E, Meo T.

Curr Protoc Hum Genet. 2001 May;Chapter 7:Unit 7.8. doi: 10.1002/0471142905.hg0708s12.

PMID:
18428309
7.

Inactivation of NADPH oxidase organizer 1 results in severe imbalance.

Kiss PJ, Knisz J, Zhang Y, Baltrusaitis J, Sigmund CD, Thalmann R, Smith RJ, Verpy E, Bánfi B.

Curr Biol. 2006 Jan 24;16(2):208-13.

8.

Initial characterization of kinocilin, a protein of the hair cell kinocilium.

Leibovici M, Verpy E, Goodyear RJ, Zwaenepoel I, Blanchard S, Lainé S, Richardson GP, Petit C.

Hear Res. 2005 May;203(1-2):144-53.

PMID:
15855039
9.

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ.

Hum Genet. 2002 Jul;111(1):26-30. Epub 2002 Jun 18.

PMID:
12136232
10.

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.

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.

Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. Epub 2002 Apr 23.

11.

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C.

Nat Genet. 2001 Nov;29(3):345-9.

PMID:
11687802
12.

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes.

Simmler MC, Zwaenepoel I I, Verpy E, Guillaud L, Elbaz C, Petit C, Panthier JJ.

Mamm Genome. 2000 Nov;11(11):961-966.

PMID:
11178734
13.

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C.

Hum Mutat. 2001;17(1):34-41.

PMID:
11139240
14.

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes.

Simmler MC, Zwaenepoel I, Verpy E, Guillaud L, Elbaz C, Petit C, Panthier JJ.

Mamm Genome. 2000 Nov;11(11):960-6.

PMID:
11063250
15.

Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme.

Cohen-Salmon M, Frenz D, Liu W, Verpy E, Voegeling S, Petit C.

J Biol Chem. 2000 Dec 22;275(51):40036-41.

16.

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C.

Nat Genet. 2000 Sep;26(1):51-5.

PMID:
10973247
17.
18.

Novel variants of human IFN-alpha detected in tumor cell lines and biopsy specimens.

Golovleva I, Biasotto M, Verpy E, Roos G, Meo T, Tosi M, Lundgren E.

J Interferon Cytokine Res. 1997 Oct;17(10):637-45.

PMID:
9355966
19.
20.

COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization.

Eldering E, Verpy E, Roem D, Meo T, Tosi M.

J Biol Chem. 1995 Feb 10;270(6):2579-87.

21.

Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.

Verpy E, Couture-Tosi E, Eldering E, Lopez-Trascasa M, Späth P, Meo T, Tosi M.

J Clin Invest. 1995 Jan;95(1):350-9.

22.

Efficient detection of point mutations on color-coded strands of target DNA.

Verpy E, Biasotto M, Meo T, Tosi M.

Proc Natl Acad Sci U S A. 1994 Mar 1;91(5):1873-7.

23.

C1 inhibitor mutations which affect intracellular transport and secretion in type I hereditary angioedema.

Verpy E, Couture-Tosi E, Tosi M.

Behring Inst Mitt. 1993 Dec;(93):120-4.

PMID:
8172558

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