E. Verpy

发表

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

A. Mansour, C. Petit, S. Blanchard, 2000, Nature Genetics.

COOH-terminal Substitutions in the Serpin C1 Inhibitor That Cause Loop Overinsertion and Subsequent Multimerization (*)

E. Verpy, E. Eldering, D. Roem, 1995, The Journal of Biological Chemistry.

Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.

E. Couture-Tosi, M. López-Trascasa, E. Verpy, 1995, The Journal of clinical investigation.

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

C. Petit, M. Simmler, E. Verpy, 2000, Mammalian Genome.

Inactivation of NADPH oxidase organizer 1 Results in Severe Imbalance

C. Sigmund, J. Baltrusaitis, Richard J. H. Smith, 2006, Current Biology.

Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

E. Verpy, T. Meo, M. Tosi, 1996, American journal of human genetics.

Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals.

C. Petit, M. Leibovici, E. Verpy, 1999, Proceedings of the National Academy of Sciences of the United States of America.

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

C. Petit, S. Blanchard, J. Popot, 2001, Nature Genetics.

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

A. Pandya, C. Petit, X. Liu, 2002, Human Genetics.

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

P. Avan, C. Petit, A. El-Amraoui, 2014, Proceedings of the National Academy of Sciences.

Initial characterization of kinocilin, a protein of the hair cell kinocilium

C. Petit, S. Blanchard, R. Goodyear, 2005, Hearing Research.

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

M. Lathrop, C. Petit, M. Mustapha, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

P. Avan, C. Petit, D. Weil, 2008, Nature.

Detection of Mutations by Fluorescence‐Assisted Mismatch Analysis (FAMA)

E. Verpy, T. Meo, M. Tosi, 1997, Current protocols in human genetics.

Efficient detection of point mutations on color-coded strands of target DNA.

E. Verpy, T. Meo, M. Tosi, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane

C. Petit, D. Weil, R. Goodyear, 2011, The Journal of comparative neurology.

Novel Variants of Human IFN-α Detected in Tumor Cell Lines and Biopsy Specimens

G. Roos, I. Golovleva, E. Verpy, 1997 .

Excessive self-grooming of Shank3 mutant mice is associated with gene dysregulation and imbalance between the striosome and matrix compartments in the striatum

T. Bourgeron, F. de Chaumont, T. Boeckers, 2022 .

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

P. Avan, C. Petit, Vincent Michel, 2019, Proceedings of the National Academy of Sciences.

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

C. Petit, N. Michalski, J. Hardelin, 2013, Gene.

Cochlear outer hair cell horizontal top connectors mediate mature stereocilia bundle mechanics

R. Chadwick, E. Verpy, A. Cartagena-Rivera, 2019, Science Advances.

Identification of three novel mutations in the USH1C gene and detection of thirty‐one polymorphisms used for haplotype analysis

C. Petit, S. Blanchard, A. Gal, 2001, Human mutation.

Fdp, a New Fibrocyte-derived Protein Related toMIA/CD-RAP, Has an in VitroEffect on the Early Differentiation of the Inner Ear Mesenchyme*

W. Liu, M. Cohen-Salmon, E. Verpy, 2000, The Journal of Biological Chemistry.

Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals.

E. Verpy, Michel Leibovici, Christine Petit, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Cochlear outer hair cell horizontal top connectors mediate mature stereocilia bundle mechanics

R. Chadwick, E. Verpy, A. Cartagena-Rivera, 2019, Science Advances.