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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.
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.
Journal articles
pasteur-02616476v1
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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.
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.
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.
Journal articles
pasteur-01060192v1
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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.
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.
Journal articles
pasteur-01472843v1
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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.
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 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.
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
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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 articles
pasteur-01472846v1
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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.
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.
Journal articles
pasteur-01545828v1
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Interactions in the network of Usher syndrome type 1 proteins
Avital Adato
,
Vincent Michel
,
Yoshiaki Kikkawa
,
Jan Reiners
,
Kumar N Alagramam
,
et al.
Journal articles
istex
pasteur-03926828v1
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