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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
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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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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Christèle Dubourg , Damien Sanlaville , Martine Doco-Fenzy , Cédric Le Caignec , Chantal Missirian , et al.
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
Journal articles inserm-00541962v1
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Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

Amel Bahloul , Vincent Michel , Jean-Pierre Hardelin , Sylvie Nouaille , Sylviane Hoos , et al.
Human Molecular Genetics, 2010, 19 (18), pp.3557 - 3565. ⟨10.1093/hmg/ddq271⟩
Journal articles pasteur-03525648v1
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Otoferlin Is Critical for a Highly Sensitive and Linear Calcium-Dependent Exocytosis at Vestibular Hair Cell Ribbon Synapses

Didier Dulon , Saaid Safieddine , Sherri M Jones , Christine Petit
Journal of Neuroscience, 2009, 29 (34), pp.10474-10487. ⟨10.1523/JNEUROSCI.1009-09.2009⟩
Journal articles hal-04159603v1
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Sébastien Jacquemont , Alexandre Reymond , Flore Zufferey , Louise Harewood , Robin G. Walters , et al.
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Journal articles inserm-00619240v1
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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
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Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells

Maryline Beurg , Nicolas Michalski , Saaid Safieddine , Yohan Bouleau , Ralf Schneggenburger , et al.
Journal of Neuroscience, 2010, 30 (40), pp.13281-90. ⟨10.1523/JNEUROSCI.2528-10.2010⟩
Journal articles pasteur-01472847v1
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Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

Marine Lebrun , Nicolas Richard , Geneviève Abeguilé , Albert David , Anne Coëslier Dieux , et al.
Journal of Clinical Endocrinology and Metabolism, 2010, 95 (6), pp.3028-38. ⟨10.1210/jc.2009-1451⟩
Journal articles inserm-00480041v1