Search - Inserm - Institut national de la santé et de la recherche médicale Access content directly

Filter your results

13 Results
Structure: Internal structure identifier : 2945
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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
Image document

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

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