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Structure: Internal structure identifier : 2945
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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 of Cell Science, 2007, 120 (16), pp.2838-50. ⟨10.1242/jcs.002568⟩
Journal articles pasteur-01545829v1
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Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

Aziz El-Amraoui , Christine Petit
Journal of Cell Science, 2005, 118 (20), pp.4593-4603. ⟨10.1242/jcs.02636⟩
Journal articles pasteur-03926862v1

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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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

Jean-Pierre Hardelin , Catherine Dodé
Sexual Development, 2008, 2 (4-5), pp.181-93. ⟨10.1159/000152034⟩
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.
Pflügers Archiv European Journal of Physiology, 2009, 459 (1), pp.115-130. ⟨10.1007/s00424-009-0711-x⟩
Journal articles pasteur-02616476v1

Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

N. Michalski , V. Michel , A. Bahloul , G. Lefevre , J. Barral , et al.
Journal of Neuroscience, 2007, 27 (24), pp.6478-6488. ⟨10.1523/JNEUROSCI.0342-07.2007⟩
Journal articles hal-03771502v1
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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
Médecine/Sciences, 2005, 21 (8-9), pp.737-40. ⟨10.1051/medsci/2005218-9737⟩
Journal articles inserm-00104686v1

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.
Mechanisms of Development, 2007, 124 (6), pp.449-462. ⟨10.1016/j.mod.2007.03.004⟩
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.
American Journal of Human Genetics, 2007, 81 (6), pp.1169-85. ⟨10.1086/522090⟩
Journal articles inserm-00196715v1
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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
Developmental Biology, 2008, 320 (2), pp.469-79. ⟨10.1016/j.ydbio.2008.06.008⟩
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.
Human Molecular Genetics, 2012, 21 (17), pp.3835-44. ⟨10.1093/hmg/dds212⟩
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.
PLoS Genetics, 2012, 8 (8), pp.e1002896. ⟨10.1371/journal.pgen.1002896⟩
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

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

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

Benjamin Delprat , Vincent Michel , Richard Goodyear , Yasuhiro Yamasaki , Nicolas Michalski , et al.
Human Molecular Genetics, 2004, 14 (3), pp.401 - 410. ⟨10.1093/hmg/ddi036⟩
Journal articles istex pasteur-03926836v1
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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 of Cell Science, 2005, 118 (13), pp.2891-99. ⟨10.1242/jcs.02424⟩
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

Connexin30 deficiency causes instrastrial fluid–blood barrier disruption within the cochlear stria vascularis

Martine Cohen-Salmon , Béatrice Regnault , Nadège Cayet , Dorothée Caille , Karine Demuth , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007, 104 (15), pp.6229-6234. ⟨10.1073/pnas.0605108104⟩
Journal articles hal-04027329v1

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

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

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.
European Journal of Human Genetics, 2006, 14 (6), pp.773-9. ⟨10.1038/sj.ejhg.5201611⟩
Journal articles inserm-00102388v1

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.

Isabelle Roux , Saaid Safieddine , Régis Nouvian , M'Hamed Grati , Marie-Christine Simmler , et al.
Cell, 2006, 127 (2), pp.277-89. ⟨10.1016/j.cell.2006.08.040⟩
Journal articles hal-00111976v1