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authFullName_s : Dominique Weil

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

Philomena Mburu , Mirna Mustapha , Anabel Varela , Dominique Weil , Aziz El-Amraoui , et al.
Nature Genetics, 2003, 34, pp.421-428. ⟨10.1038/ng1208⟩
Journal articles pasteur-03926895v1
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Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells

Nicolas Michalski , Vincent Michel , Elisa Caberlotto , Gaëlle Lefèvre , Alexander van Aken , et al.
Pflügers Archiv European Journal of Physiology, 2009, 459 (1), pp.115-130. ⟨10.1007/s00424-009-0711-x⟩
Journal articles pasteur-02616476v1

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

Nizar Ben Halim , Majdi Nagara , Béatrice Regnault , Sana Hsouna , Khaled Lasram , et al.
Annals of Human Genetics, 2015, 79 (6), pp.402 - 417. ⟨10.1111/ahg.12131⟩
Journal articles pasteur-01375019v1
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Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

Da-Yong Wang , Yi-Chen Wang , Dominique Weil , Ya-Li Zhao , Shao-Qi Rao , et al.
BMC Medical Genetics, 2010, 11 (1), pp.79. ⟨10.1186/1471-2350-11-79⟩
Journal articles pasteur-00649415v1
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Zied Riahi , Crystel Bonnet , Rim Zainine , Malek Louha , Yosra Bouyacoub , et al.
PLoS ONE, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩
Journal articles pasteur-01060192v1

Cloning of the Genes Encoding Two Murine and Human Cochlear Unconventional Type I Myosins

Fabien Crozet , Aziz El Amraoui , Stéphane Blanchard , Marc Lenoir , Chantal Ripoll , et al.
Genomics, 1997, 40 (2), pp.332-341. ⟨10.1006/geno.1996.4526⟩
Journal articles istex pasteur-04036434v1
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Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Sedigheh Delmaghani , Asadollah Aghaie , Nicolas Michalski , Crystel Bonnet , Dominique Weil , et al.
Human Molecular Genetics, 2012, 21 (17), pp.3835-44. ⟨10.1093/hmg/dds212⟩
Journal articles pasteur-01472843v1

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

Avital Adato , Gaëlle Lefèvre , Benjamin Delprat , Vincent Michel , Nicolas Michalski , et al.
Human Molecular Genetics, 2005, 14 (24), pp.3921 - 3932. ⟨10.1093/hmg/ddi416⟩
Journal articles pasteur-03926831v1
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Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.

Iman Sahly , Eric Dufour , Cataldo Schietroma , Vincent Michel , Amel Bahloul , et al.
Journal of Cell Biology, 2012, 199 (2), pp.381-99. ⟨10.1083/jcb.201202012⟩
Journal articles inserm-00743698v1
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Crystel Bonnet , M'Hamed Grati , Sandrine Marlin , Jacqueline Levilliers , Jean-Pierre Hardelin , et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩
Journal articles pasteur-00663885v1
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Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.

Elisa Caberlotto , Michel Vittot , Isabelle Foucher , Amel Bahloul , Richard J Goodyear , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011, 108 (14), pp.5825-30. ⟨10.1073/pnas.1017114108⟩
Journal articles pasteur-01472844v1

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

Elisabeth Verpy , Michel Leibovici , Nicolas Michalski , Richard J Goodyear , Carine Houdon , et al.
Journal of Comparative Neurology, 2011, 519 (2), pp.194-210. ⟨10.1002/cne.22509⟩
Journal articles pasteur-01472846v1

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.

Amel Bahloul , Marie-Christine Simmler , Vincent Michel , Michel Leibovici , Isabelle Perfettini , et al.
EMBO Molecular Medicine, 2009, 1 (2), pp.125-38. ⟨10.1002/emmm.200900015⟩
Journal articles hal-00477439v1
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Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape.

Raphael Etournay , Léa Lepelletier , Jacques Boutet de Monvel , Vincent Michel , Nadège Cayet , et al.
Development (Cambridge, England), 2010, 137 (8), pp.1373-83. ⟨10.1242/dev.045138⟩
Journal articles pasteur-01545828v1

Interactions in the network of Usher syndrome type 1 proteins

Avital Adato , Vincent Michel , Yoshiaki Kikkawa , Jan Reiners , Kumar N Alagramam , et al.
Human Molecular Genetics, 2004, 14, pp.347 - 356. ⟨10.1093/hmg/ddi031⟩
Journal articles istex pasteur-03926828v1