Works by Nouaille, Sylvie

Results: 11

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex.

Published in:

EMBO Journal, 2000, v. 19, n. 22, p. 6020, doi. 10.1093/emboj/19.22.6020

By:

Küssel-Andermann, Polonca;
El-Amraoui, Aziz;
Safieddine, Saaid;
Nouaille, Sylvie;
Perfettini, Isabell;
Lecuit, Marc;
Cossart, Pascale;
Wolfrum, Uwe;
Petit, Christine

Publication type:

Article

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 10, p. 816, doi. 10.1038/sj.ejhg.5201045

By:

Delmaghani, Sedigheh;
Aghaie, Asadollah;
Compain-Nouaille, Sylvie;
Ataie, Afsaneh;
Lemainque, Arnaud;
Zeinali, Sirous;
Lathrop, Mark;
Weil, Dominique;
Petit, Christine

Publication type:

Article

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.

Published in:

FEBS Letters, 2017, v. 591, n. 15, p. 2299, doi. 10.1002/1873-3468.12729

By:

Bahloul, Amel;
Pepermans, Elise;
Raynal, Bertrand;
Wolff, Nicolas;
Cordier, Florence;
England, Patrick;
Nouaille, Sylvie;
Baron, Bruno;
El-Amraoui, Aziz;
Hardelin, Jean-Pierre;
Durand, Dominique;
Petit, Christine

Publication type:

Article

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 463, doi. 10.1038/ng1122

By:

Dode, Catherine;
Levilliers, Jacqueline;
Dupont, Jean-Michel;
De Paepe, Anne;
Le Du, Nathalie;
Soussi-Yanicostas, Nadia;
Coimbra, Roney S.;
Delmaghani, Sedigheh;
Compain-Nouaille, Sylvie;
Baverel, Francoise;
Pecheux, Christophe;
Le Tessier, Dominique;
Cruaud, Corinne;
Delpech, Marc;
Speleman, Frank;
Vermeulen, Stefan;
Amalfitano, Andrea;
Bachelot, Yvan;
Bouchard, Philippe

Publication type:

Article

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Published in:

Nature Genetics, 2001, v. 29, n. 3, p. 345, doi. 10.1038/ng726

By:

Verpy, Elisabeth;
Masmoudi, Saber;
Zwaenepoel, Ingrid;
Leibovici, Michel;
Hutchin, Tim P.;
Del Castillo, Ignacio;
Nouaille, Sylvie;
Blanchard, Stéphane;
Lainé, Sophie;
Popot, Jean-Luc;
Moreno, Felipe;
Mueller, Robert F.;
Petit, Christine

Publication type:

Article

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.

Published in:

EMBO Molecular Medicine, 2009, v. 1, n. 2, p. 125, doi. 10.1002/emmm.200900015

By:

Bahloul, Amel;
Simmler, Marie-Christine;
Michel, Vincent;
Leibovici, Michel;
Perfettini, Isabelle;
Roux, Isabelle;
Weil, Dominique;
Nouaille, Sylvie;
Zuo, Jian;
Zadro, Cristina;
Licastro, Danilo;
Gasparini, Paolo;
Avan, Paul;
Hardelin, Jean-Pierre;
Petit, Christine

Publication type:

Article

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25.

Published in:

Human Genetics, 2002, v. 110, n. 4, p. 348, doi. 10.1007/s00439-002-0690-x

By:

Mustapha, Mirna;
Chouery, Éliane;
Torchard-Pagnez, Delphine;
Nouaille, Sylvie;
Khrais, Awni;
Sayegh, Fouad N.;
Mégarbané, André;
Loiselet, Jacques;
Lathrop, Mark;
Petit, Christine;
Weil, Dominique

Publication type:

Article

Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73158-1

By:

Michel, Vincent;
Pepermans, Elise;
Boutet de Monvel, Jacques;
England, Patrick;
Nouaille, Sylvie;
Aghaie, Alain;
Delhommel, Florent;
Wolff, Nicolas;
Perfettini, Isabelle;
Hardelin, Jean-Pierre;
Petit, Christine;
Bahloul, Amel

Publication type:

Article

Otoferlin acts as a Ca<sup>2+</sup> sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses.

Published in:

eLife, 2017, p. 1, doi. 10.7554/eLife.31013.001

By:

Michalski, Nicolas;
Goutman, Juan D.;
Auclair, Sarah Marie;
de Monvel, Jacques Boutet;
Tertrais, Margot;
Emptoz, Alice;
Parrin, Alexandre;
Nouaille, Sylvie;
Guillon, Marc;
Sachse, Martin;
Ciric, Danica;
Bahloul, Amel;
Hardelin, Jean-Pierre;
Sutton, Roger Bryan;
Avan, Paul;
Krishnakumar, Shyam S.;
Rothman, James E.;
Dulon, Didier;
Safieddine, Saaid;
Petit, Christine

Publication type:

Article

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 18, p. 3557, doi. 10.1093/hmg/ddq271

By:

Bahloul, Amel;
Michel, Vincent;
Hardelin, Jean-Pierre;
Nouaille, Sylvie;
Hoos, Sylviane;
Houdusse, Anne;
England, Patrick;
Petit, Christine

Publication type:

Article

Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4615, doi. 10.1093/hmg/ddp429

By:

Roux, Isabelle;
Hosie, Suzanne;
Johnson, Stuart L.;
Bahloul, Amel;
Cayet, Nadège;
Nouaille, Sylvie;
Kros, Corné J.;
Petit, Christine;
Safieddine, Saaid

Publication type:

Article