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Syndrome de Usher de type 1 et développement de la touffe ciliaire des cellules sensorielles de l'oreille interne
Aziz El-Amraoui
,
Gaëlle Lefèvre
,
Jean-Pierre Hardelin
,
Christine Petit
Journal articles
inserm-00104686v1
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Conditional knock-out reveals that zygotic vezatin-null mouse embryos die at implantation
Vincent Hyenne
,
Céline Souilhol
,
Michel Cohen-Tannoudji
,
Silvia Cereghini
,
Christine Petit
,
et al.
Journal articles
pasteur-02075502v1
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Nadège Bondurand
,
Florence Dastot-Le Moal
,
Laure Stanchina
,
Nathalie Collot
,
Viviane Baral
,
et al.
Journal articles
inserm-00196715v1
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Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions.
Raphael Etournay
,
Ingrid Zwaenepoel
,
Isabelle Perfettini
,
Pierre Legrain
,
Christine Petit
,
et al.
Journal articles
pasteur-01545829v1
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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
Jean-Pierre Hardelin
,
Catherine Dodé
Journal articles
inserm-00339172v1
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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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Essential requirement for zebrafish anosmin-1a in the migration of the posterior lateral line primordium.
Constantin Yanicostas
,
Sylvain Ernest
,
Cyrielle Dayraud
,
Christine Petit
,
Nadia Soussi-Yanicostas
Journal articles
inserm-00289099v1
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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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SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome
Naresh Kumar Hanchate
,
Paolo Giacobini
,
Pierre Lhuillier
,
Jyoti Parkash
,
Cécile Espy
,
et al.
Journal articles
inserm-03204465v1
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Déficits auditifs : recherches émergentes et applications chez l'enfant
Paul Avan
,
Yves Cazals
,
René Dauman
,
Françoise Denoyelle
,
Jean-Pierre Hardelin
[Rapport de recherche] Institut national de la santé et de la recherche médicale(INSERM). 2006, 150 p., tableaux, bibliographie p. 102 et 103
Reports
hal-01570631v1
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PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.
Raphael Etournay
,
Aziz El-Amraoui
,
Amel Bahloul
,
Stéphane Blanchard
,
Isabelle Roux
,
et al.
Journal articles
pasteur-01541848v1
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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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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Sébastien Albert
,
Hélène Blons
,
Laurence Jonard
,
Delphine Feldmann
,
Pierre Chauvin
,
et al.
Journal articles
inserm-00102388v1
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