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Dominique Weil

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I Sahly; Cataldo Schietroma; Dominique Weil; José-Alain Sahel; Asadollah Aghaie; Amel Bahloul; Diane Carette; Eric Dufour; Inga Ebermann; Aziz El-Amraoui; Amrit Estivalet; Jean-Pierre Hardelin; Maria Iribarne; Andrea Lelli; Vincent Michel; Elise Pepermans; Isabelle Perfettini; Christine Petit
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
Sedigheh Delmaghani; Nicolas Michalski; Asadollah Aghaie; Crystel Bonnet; Dominique Weil; Christine Petit
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
Elisa Caberlotto; Vincent Michel; Isabelle Foucher; Amel Bahloul; Richard J Goodyear; Elise Pepermans; Nicolas Michalski; Isabelle Perfettini; Olinda Alegria-Prévot; Sébastien Chardenoux; Marcio Do Cruzeiro; Jean-Pierre Hardelin; Guy P Richardson; Paul Avan; Dominique Weil; Christine Petit
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.

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All Publications

2012: I Sahly; Cataldo Schietroma; Dominique Weil; José-Alain Sahel; Asadollah Aghaie; Amel Bahloul; Diane Carette; Eric Dufour; Inga Ebermann; Aziz El-Amraoui; Amrit Estivalet; Jean-Pierre Hardelin; Maria Iribarne; Andrea Lelli; Vincent Michel; Elise Pepermans; Isabelle Perfettini; Christine Petit
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
The Journal of cell biology 2012;199(2):381-99.
2012: Sedigheh Delmaghani; Nicolas Michalski; Asadollah Aghaie; Crystel Bonnet; Dominique Weil; Christine Petit
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
Human molecular genetics 2012;21(17):3835-44.
2011: Elisa Caberlotto; Vincent Michel; Isabelle Foucher; Amel Bahloul; Richard J Goodyear; Elise Pepermans; Nicolas Michalski; Isabelle Perfettini; Olinda Alegria-Prévot; Sébastien Chardenoux; Marcio Do Cruzeiro; Jean-Pierre Hardelin; Guy P Richardson; Paul Avan; Dominique Weil; Christine Petit
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(14):5825-30.
2011: Elisabeth Verpy; Michel Leibovici; Nicolas Michalski; Richard J Goodyear; Carine Houdon; Dominique Weil; Guy P Richardson; Christine Petit
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane.
The Journal of comparative neurology 2011;519(2):194-210.
2009: Nicolas Michalski; Vincent Michel; Elisa Caberlotto; Gaëlle Lefèvre; Alexander F J van Aken; Jean-Yves Tinevez; Emilie Bizard; Christophe Houbron; Dominique Weil; Jean-Pierre Hardelin; Guy P Richardson; Corné J Kros; Pascal Martin; Christine Petit
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells.
Pflügers Archiv : European journal of physiology 2009;459(1):115-30.
2009: Amel Bahloul; Marie-Christine Simmler; Vincent Michel; Michel Leibovici; Isabelle Perfettini; Isabelle Catherina Roux; Dominique Weil; Sylvie Nouaille; Jian Zuo; Cristina Zadro; Danilo Licastro; Paolo Gasparini; Paul Avan; Jean-Pierre Hardelin; Christine Petit
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.
EMBO molecular medicine 2009;1(2):125-38.
2008: Elisabeth Verpy; Dominique Weil; Michel Leibovici; Richard J Goodyear; Ghislaine Hamard; Carine Houdon; Gaelle M Lefèvre; Jean-Pierre Hardelin; Guy P Richardson; Paul Avan; Christine Petit
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
Nature 2008;456(7219):255-8.
2008: Gaëlle Lefèvre; Vincent Michel; Dominique Weil; Léa Lepelletier; Emilie Bizard; Uwe Wolfrum; Jean-Pierre Hardelin; Christine Petit
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth.
Development (Cambridge, England) 2008;135(8):1427-37.
2007: Nicolas Michalski; Vincent Michel; Amel Bahloul; Gaëlle Lefèvre; Jérémie Barral; Hideshi Yagi; Sébastien Chardenoux; Dominique Weil; Pascal Martin; Jean-Pierre Hardelin; Makoto Sato; Christine Petit
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(24):6478-88.
2006: Sedigheh Delmaghani; Francisco del Castillo; Vincent Michel; Michel Leibovici; Asadollah Aghaie; Uri Ron; Lut Van Laer; Nir Ben-Tal; Guy Van Camp; Dominique Weil; Francina Langa; Mark Lathrop; Paul Avan; Christine Petit
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Nature genetics 2006;38(7):770-8.
2005: Avital Adato; Gaëlle Lefèvre; Benjamin Delprat; Vincent Michel; Nicolas Michalski; Sébastien Chardenoux; Dominique Weil; Aziz El-Amraoui; Christine Petit
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.
Human molecular genetics 2005;14(24):3921-32.
2005: bouchaib gazzaz; Dominique Weil; Leïla Raïs; Omar Akhyat; Houssine Azeddoug; Sellama Nadifi
Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
Hearing research 2005;210(1-2):80-4.
2005: Francisco del Castillo; Montserrat Rodríguez-Ballesteros; Araceli Alvarez; Tim Hutchin; Emanuela Leonardi; Camila Andréa de Oliveira; Hela Azaiez; Zippora Brownstein; M R Avenarius; Sandrine Marlin; A Pandya; Hashem Shahin; Kirby R Siemering; Dominique Weil; W Wuyts; Luis A Aguirre; Yolanda Martín; Miguel A Moreno-Pelayo; Manuela Villamar; Karen B Avraham; Hans-Henrik M Dahl; Moien Kanaan; Walter E Nance; Christine Petit; R J H Smith; Guy Van Camp; Edi Sartorato; Alessandra Murgia; Felipe Moreno; Ignacio del Castillo
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Journal of medical genetics 2005;42(7):588-94.
2005: Abdelaziz Tlili; Ilhem Charfedine; Imed Lahmar; Zeineb Benzina; Ben Amor Mohamed; Dominique Weil; Nabil Idriss; Mohamed Drira; Saber Masmoudi; Hammadi Ayadi
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
Human mutation 2005;25(5):503.
2005: Vincent Michel; Richard J Goodyear; Dominique Weil; Walter Marcotti; Isabelle Perfettini; Uwe Wolfrum; Corné J Kros; Guy P Richardson; Christine Petit
Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells.
Developmental biology 2005;280(2):281-94.
2005: Avital Adato; Vincent Michel; Yoshiaki Kikkawa; Jan Reiners; Kumar N Alagramam; Dominique Weil; Hiromichi Yonekawa; Uwe Wolfrum; Aziz El-Amraoui; Christine Petit
Interactions in the network of Usher syndrome type 1 proteins.
Human molecular genetics 2005;14(3):347-56.
2004: Delphine Feldmann; Françoise Denoyelle; Natalie Loundon; Dominique Weil; Erea-Noel Garabedian; Rémy Couderc; Alain Joannard; Sébastien Schmerber; Bruno Delobel; Jacques Leman; Hubert Journel; Hélène Catros; Claude Ferrec; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Lucien Moati; Christine Petit; Sandrine Marlin
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
European journal of human genetics : EJHG 2004;12(4):279-84.
2003: Sedigheh Delmaghani; Asadollah Aghaie; Sylvie Compain-Nouaille; Afsaneh Ataie; Arnaud Lemainque; Sirous Zeinali; Mark Lathrop; Dominique Weil; Christine Petit
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.
European journal of human genetics : EJHG 2003;11(10):816-8.
2003: Philomena Mburu; Mirna Mustapha; Anabel Varela; Dominique Weil; Aziz El-Amraoui; Ralph H Holme; Andreas Rump; Rachel E Hardisty; Stéphane Blanchard; Roney Coimbra; Isabelle Perfettini; Nick Parkinson; Ann-Marie Mallon; Peter Glenister; Mike J Rogers; Adam J Paige; Lee Moir; Jo Clay; Andre Rosenthal; Xue Zhong Liu; Gonzalo Blanco; Karen P Steel; Christine Petit; Steve D M Brown
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Nature genetics 2003;34(4):421-8.
2003: Mireille Lavigne-Rebillard; Benjamin Delprat; Marie-Odile Surget; Jean-Michel Griffoin; Dominique Weil; Mariona Arbones; Robert Vincent; Christian P Hamel
Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.
Neurogenetics 2003;4(3):137-40.
2003: Dominique Weil; Aziz El-Amraoui; Saber Masmoudi; Mirna Mustapha; Yoshiaki Kikkawa; Sophie Lainé; Sedigheh Delmaghani; Avital Adato; Sellama Nadifi; Zeineb Ben Zina; Christian Hamel; Andreas Gal; Hammadi Ayadi; Hiromichi Yonekawa; Christine Petit
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Human molecular genetics 2003;12(5):463-71.
2003: Saber Masmoudi; Abdelaziz Tlili; Marja Majava; Ali Ghorbel; Sébastien Chardenoux; Arnaud Lemainque; Zeineb Ben Zina; Jihene Moala; Minna Männikkö; Dominique Weil; Mark Lathrop; Leena Ala-Kokko; Mohamed Drira; Christine Petit; Hammadi Ayadi
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
European journal of human genetics : EJHG 2003;11(2):185-8.
2002: Elise Chapiro; Delphine Feldmann; Françoise Denoyelle; Damien Sternberg; Claude Jardel; Marie-Madeleine Eliot; Didier Bouccara; Dominique Weil; Eréa-Noel Garabédian; Rémy Couderc; Christine Petit; Sandrine Marlin
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
European journal of human genetics : EJHG 2002;10(12):851-6.
2002: Myrna Medlej-Hashim; Mirna Mustapha; Eliane Chouery; Dominique Weil; Joel Parronaud; Nabiha Salem; Valérie Delague; Jacques Loiselet; Mark Lathrop; Christine Petit; André Mégarbané
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
European journal of human genetics : EJHG 2002;10(6):391-4.
2002: Roney Coimbra; Dominique Weil; Phillipe Brottier; Stéphane Blanchard; Michael Levi; Jean-Pierre Hardelin; Jean Weissenbach; Christine Petit
A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear.
Genome research 2002;12(6):1007-11.
2002: Mirna Mustapha; Eliane Chouery; Delphine Torchard-Pagnez; Sylvie Nouaille; Awni Khrais; Fouad N Sayegh; André Mégarbané; Jacques Loiselet; Mark Lathrop; Christine Petit; Dominique Weil
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
Human genetics 2002;110(4):348-50.
2002: Mirna Mustapha; Eliane Chouery; Sébastien Chardenoux; Mohamed Naboulsi; Joël Paronnaud; Arnaud Lemainque; André Mégarbané; Jacques Loiselet; Dominique Weil; Mark Lathrop; Christine Petit
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
European journal of human genetics : EJHG 2002;10(3):210-2.
2001: Batiste Boëda; Dominique Weil; Christine Petit
A specific promoter of the sensory cells of the inner ear defined by transgenesis.
Human molecular genetics 2001;10(15):1581-9.
2001: Roberto Bruzzone; Danielle Gomès; E Denoyelle; Nathalie Duval; J Perea; Valentina Veronesi; Dominique Weil; Christine Petit; Marie-Madeleine Gabellec; Paola D'Andrea; Thomas W White
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness.
Cell communication & adhesion 2001;8(4-6):425-31.
2000: Françoise Denoyelle; Dominique Weil; Jacqueline Levilliers; Christine Petit
DFNA3.
Advances in oto-rhino-laryngology 2000;56():78-83.
1999: Avital Adato; H Kalinski; Dominique Weil; Hassan Chaib; Michael Korostishevsky; Batsheva Bonne-Tamir
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.
American journal of human genetics 1999;65(1):261-5.
1999: Françoise Denoyelle; Sandrine Marlin; Dominique Weil; L Moatti; Pierre Chauvin; Eréa-Noel Garabédian; Christine Petit
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Lancet 1999;353(9161):1298-303.
1999: Mirna Mustapha; Dominique Weil; Sébastien Chardenoux; S Elias; E El-Zir; Jacques Beckmann; Jacques Loiselet; Christine Petit
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
Human molecular genetics 1999;8(3):409-12.
1998: Mirna Mustapha; Nabiha Salem; Dominique Weil; E El-Zir; Jacques Loiselet; Christine Petit
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.
European journal of human genetics : EJHG 1998;6(6):548-51.
1998: Françoise Denoyelle; Geneviève Lina-Granade; Henri Plauchu; Roberto Bruzzone; H Chaïb; F Lévi-Acobas; Dominique Weil; Christine Petit
Connexin 26 gene linked to a dominant deafness.
Nature 1998;393(6683):319-20.
1998: Catherine Dodé; Dominique Weil; Jacqueline Levilliers; F Crozet; H Chaïb; F Levi-Acobas; P Guilford; Christine Petit
Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2).
Genomics 1998;47(1):125-30.
1997: S Abdelhak; V Kalatzis; Roland Heilig; S Compain; D Samson; C Vincent; F Levi-Acobas; Corinne Cruaud; M Le Merrer; M Mathieu; R König; J Vigneron; Jean Weissenbach; Christine Petit; Dominique Weil
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.
Human molecular genetics 1997;6(13):2247-55.
1997: Françoise Denoyelle; Dominique Weil; Marion A Maw; SA Wilcox; NJ Lench; DR Allen-Powell; AH Osborn; Hans-Henrik M Dahl; A Middleton; MJ Houseman; Catherine Dodé; Sandrine Marlin; A Boulila-ElGaïed; M'hamed Grati; Hammadi Ayadi; S BenArab; Pierre Bitoun; Geneviève Lina-Granade; Jacqueline Godet; Mirna Mustapha; Jacques Loiselet; E El-Zir; A Aubois; Alain Joannard; E N Garabédian; R J Gardner; J Levilliers; R F Mueller; Christine Petit
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Human molecular genetics 1997;6(12):2173-7.
1997: Avital Adato; Dominique Weil; H Kalinski; Y Pel-Or; Hammadi Ayadi; Christine Petit; Michael Korostishevsky; Batsheva Bonne-Tamir
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
American journal of human genetics 1997;61(4):813-21.
1997: Dominique Weil; P Küssel; Stéphane Blanchard; G Lévy; F Levi-Acobas; Mohamed Drira; Hammadi Ayadi; Christine Petit
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
Nature genetics 1997;16(2):191-3.
1997: F Crozet; Aziz El-Amraoui; Stéphane Blanchard; M Lenoir; C Ripoll; P Vago; C Hamel; C Fizames; F Levi-Acobas; Danièle Depétris; M G Mattei; Dominique Weil; R Pujol; Christine Petit
Cloning of the genes encoding two murine and human cochlear unconventional type I myosins.
Genomics 1997;40(2):332-41.
1997: S Abdelhak; V Kalatzis; Roland Heilig; S Compain; D Samson; C Vincent; Dominique Weil; Corinne Cruaud; I Sahly; Michel Leibovici; Maria Bitner-Glindzicz; M Francis; Didier Lacombe; J Vigneron; R Charachon; K Boven; P Bedbeder; N Van Regemorter; Jean Weissenbach; Christine Petit
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Nature genetics 1997;15(2):157-64.
1997: G Lévy; F Levi-Acobas; Stéphane Blanchard; S Gerber; D Larget-Piet; V Chenal; Xue Zhong Liu; VE Newton; Karen P Steel; Steve D M Brown; Arnold Munnich; J Kaplan; Christine Petit; Dominique Weil
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Human molecular genetics 1997;6(1):111-6.
1996: Dominique Weil; G Levy; I Sahly; F Levi-Acobas; Stéphane Blanchard; Aziz El-Amraoui; F Crozet; H Philippe; marc Mordekhaï ABITBOL; Christine Petit
Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(8):3232-7.
1995: P Guilford; Catherine Dodé; F Crozet; Stéphane Blanchard; H Chaïb; Jacqueline Levilliers; F Levi-Acobas; Dominique Weil; Jean Weissenbach; D Cohen
A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C).
Genomics 1995;29(1):163-9.
1995: I Wang; Dominique Weil; Jacqueline Levilliers; Nabeel A Affara; ALBERT DE LA CHAPELLE; Christine Petit
Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness.
Genomics 1995;28(1):52-8.
1995: Dominique Weil; Stéphane Blanchard; Josseline Kaplan; P Guilford; F Gibson; J Walsh; Philomena Mburu; A Varela; Jacqueline Levilliers; M D Weston
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
Nature 1995;374(6517):60-1.
1994: Dominique Weil; I Wang; A Dietrich; A Poustka; Jean Weissenbach; Christine Petit
Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness.
Nature genetics 1994;7(3):414-9.
1993: Dominique Weil; Marie-France Portnoï; Jacqueline Levilliers; I Wang; M Mathieu; Jean-Louis Taillemite; M Meier; B Boudailliez; Christine Petit
A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.
Human molecular genetics 1993;2(11):1853-6.