Main publications

1.Cohen-Salmon M, Regnault B, Cayet N, Caille D, Demuth K, Hardelin J-P, Janel N, Meda P & Petit C (2007) Connexin30 deficiency causes intrastrial fluid-blood barrier disruption within the cochlear stria vascularis Proc Natl Acad Sci USA 104, 6229-6234.

2.Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin J-P, Sato M & Petit C (2007) Molecular characterization of the ankle link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci 27, 6478-6488.

3.Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P & Petit C (2006) Mutations in the gene encoding pejvakin, a novel protein expressed in the afferent auditory pathway, cause DFNB59 auditory neuropathy in man and mouse. Nature Genet 38, 770-778.

4.Petit C (2006) From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med 12, 57-64.

5.Roux I, Safieddine S, Nouvian R, Grati M, Simmler M-C, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T & Petit C (2006) Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127, 277-289.

6.Michel V, Goodyear RJ, Weil D, Marcotti W, Perfettini I, Wolfrum U, Kros C, Richardson GP & Petit C (2005) Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev Biol 280, 281-294.

7.Ruf RG, Xu P-X, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf E-M, Schwartz C, Chang EH, Smith RJH, Stratakis CA, Weil D, Petit C & Hildebrandt F (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA 101, 8090-8095.

8.Dodé C, Levilliers J, Dupont J-M, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel J-C, Delemarre-van de Waal H, Goulet-Salmon B, Kottler M-L, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C & Hardelin J-P (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nature Genet 33, 463-465.

9.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 A-M, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu X-Z, Blanco G, Steel KP, Petit C & Brown SDM (2003) Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with mutations in DFNB31. Nature Genet 34, 421-428.

10.Michel V, Hardelin J-P & Petit C (2003) Molecular mechanism of a frequent genetic form of deafness. New Engl J Med 349, 716-717.

11.Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G & Petit C (2002) Myosin VIIa, harmonin, and cadherin 23, three Usher I gene products, cooperate to shape the sensory hair cell bundle. EMBO J 21, 6689-6699.

12.Soussi-Yanicostas N, de Castro F, Julliard AK, Perfettini I, Chédotal A & Petit C (2002) Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. Cell 109, 217-228.

13.Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu X-Z, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G & Petit C (2002) 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 USA 99, 6240-6245

14.Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot J-L, Moreno F, Mueller RF & Petit C. (2001) Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nature Genet 29, 345-349.

15.Kharkovets T, Hardelin J-P, Safieddine S, Schweizer M, El-Amraoui A, Petit C & Jentsch TJ. (2000) KCNQ4, a K+-channel mutated in a form of dominant deafness, is expressed in the inner ear and in the central auditory pathway Proc Natl Acad Sci USA , 4333-4338.

16.Küssel-Andermann P, El-Amraoui A, Safieddine S, Nouaille S, Perfettini I, Lecuit M, Cossart P, Wolfrum U & Petit C. (2000) Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin/catenins complex EMBO J 19, 6020-6029.

17.Simmler M-C, Cohen-Salmon M, El-Amraoui A, Guillaud L, Benichou J-C, Petit C & Panthier J-J. (2000) Targeted disruption of Otogelin results in deafness and severe imbalance Nature Genet , 24, 139-143.

18.Verpy E, Leibovici M, Zwaenepoel I, Liu X-Z, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJB, Slim R & Petit C. (2000) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nature Genet 26, 51-55.

19.Denoyelle F, Marlin S, Weil D, Moatti L, Garabédian É-N & Petit C. (1999). Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin26 gene defect: implications for genetic counselling. Lancet 353, 1298-1303.

20.Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C & Jentsch TJ. (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness Cell 96, 437-446.

21.Verpy E, Leibovici M & Petit C. (1999) Characterization of otoconin-95, the major protein of murine otoconia, provides new insights into the formation of these inner ear biominerals Proc Natl Acad Sci USA 96, 529-534.

22.Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J & Petit C. (1999). A mutation in OTOF, encoding otoferlin, a FER-1 like protein, causes DFNB9, a nonsyndromic form of deafness. Nature Genet. 21, 363-369.

23.Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaïb H, Levi-Acobas F, Weil D & Petit C. (1998) Connexin26 gene linked to a dominant deafness Nature 393, 319-320.

24.Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J & Petit C. (1997). A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family. Nature Genet. 15, 157-164.

25.Cohen-Salmon M, El-Amraoui A, Leibovici M & Petit C. (1997) Otogelin: a glycoprotein specific to the acellular membranes of the inner ear Proc Natl Acad Sci USA 94, 14450-14455.

26.Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H & Petit C. (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene Nature Genet 16, 191-193.

27.Weil D, Lévy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M & Petit C. (1996) Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia Proc Natl Acad Sci USA 93, 3232-3237.

28.Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C & Ballabio A (1995) A cluster of sulfatase genes on Xp223: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy Cell 81, 15-25.

29.Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM& Petit C. (1995). Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374, 60-61.

30.Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A & Petit C. (1994). A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet. 6, 24-28.

31.Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J & Petit C (1994) Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness Nature Genet 7, 414-419.

32.del Castillo I, Cohen-Salmon M, Blanchard S, Lutfalla G & Petit C (1992) Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome Nature Genet 2, 305-310.

33.Hardelin J-P, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, Chaussain J-L, Weissenbach J & Petit C (1992) X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene Proc Natl Acad Sci USA 89, 8190-8194.

34.Legouis R, Hardelin J-P, Levilliers J, Claverie J-M, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, Bougueleret L, Delemarre-Van de Waal H, Lutfalla G, Weissenbach J & Petit C. (1991). The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67, 423-435.

35.Petit C, de la Chapelle A, Levilliers J, Castillo S, Noël B & Weissenbach J. (1987). An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell 49, 595-602.