Timeline

Christine Petit

Head of Structure

03 Aug 2024

publication

A free intravesicular C-terminal of otoferlin is essential for synaptic vesicle docking and fusion at auditory inner hair cell ribbon synapses.

09 Jan 2024

publication

Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model

27 Jun 2023

publication

Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies.

22 Dec 2022

publication

The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses.

08 Nov 2021

project

AUDIOGENAGE – Development of a battery of audiological tests for the precise diagnosis of age-related hearing loss

08 Dec 2020

publication

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.

01 Dec 2016

publication

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

27 Jan 2016

publication

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder

18 Jan 2016

publication

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

19 Nov 2015

project

RHU LIGHT4DEAF

19 Nov 2015

project

HearDeafTreat Hearing and deafness: molecular mechanisms and therapeutic approaches

14 Nov 2015

publication

A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells

05 Nov 2015

publication

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.

30 Oct 2015

project

LABEX LIFESENSES

30 Oct 2015

project

ERC-2011-AdG HAIRBUNDLE

19 Aug 2015

publication

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

03 Jul 2015

project

Human and mouse hereditary deafness

03 Jun 2015

publication

The tip-link molecular complex of the auditory mechano-electrical transduction machinery

18 May 2015

publication

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

12 May 2015

project

From genes to the molecular physiology of hearing

12 May 2015

project

Human and mouse hereditary deafness

23 Mar 2015

publication

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients

15 Feb 2015

publication

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

16 Sep 2014

team

Auditory Therapies Innovation Lab

12 Aug 2014

publication

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss

29 Jul 2014

publication

Specific aspects of consanguinity: some examples from the Tunisian population

25 Jun 2014

publication

Genetics of auditory mechano-electrical transduction

17 Jun 2014

publication

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

13 Jun 2014

publication

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

17 Apr 2014

publication

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

01 Mar 2014

publication

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models Atteinte rétinienne dans le syndrome de Usher : contribution des modèles animaux à la physiopathologie

01 Oct 2013

publication

[Gene therapy for human hearing loss: challenges and promises].

15 Sep 2013

publication

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

01 Jul 2013

publication

Auditory hair cell centrioles undergo confined Brownian motion throughout the developmental migration of the kinocilium

07 Jun 2012

publication

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

21 Mar 2011

publication

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

01 Feb 2011

publication

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

16 Jul 2010

publication

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

28 May 2010

publication

Wrapping up stereocilia rootlets

01 Apr 2010

publication

Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape

01 Dec 2009

publication

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

28 Oct 2009

publication

Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins

26 May 2009

publication

Linking genes underlying deafness to hair-bundle development and function

01 May 2009

publication

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

08 Oct 2008

publication

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

13 Mar 2008

publication

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

01 Jan 2008

publication

[Chapter 8] Mouse Models for Human Hereditary Deafness

13 Jun 2007

publication

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.

20 Oct 2006

publication

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

10 Jan 2006

publication

From deafness genes to hearing mechanisms: harmony and counterpoint

01 Jul 2005

publication

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.

01 May 2005

publication

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

15 Apr 2005

publication

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

01 Feb 2005

publication

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

15 Sep 2004

publication

Memorial lecture-hereditary sensory defects: from genes to pathogenesis

15 Apr 2004

publication

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

01 Mar 2004

publication

[Hereditary deafness: molecular genetics]

20 Feb 2004

publication

Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear

01 Oct 2003

publication

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

01 Jul 2002

publication

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

01 Jun 2002

publication

A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear

19 Apr 2002

publication

Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons

18 Apr 2002

publication

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.

12 Mar 2002

publication

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

01 Mar 2002

publication

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34

01 Jan 2002

publication

DFNB21

01 Jan 2002

publication

A little guide for advanced search:

A free intravesicular C-terminal of otoferlin is essential for synaptic vesicle docking and fusion at auditory inner hair cell ribbon synapses.

Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model

Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies.

The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses.

AUDIOGENAGE – Development of a battery of audiological tests for the precise diagnosis of age-related hearing loss

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

RHU LIGHT4DEAF

HearDeafTreat Hearing and deafness: molecular mechanisms and therapeutic approaches

A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.

LABEX LIFESENSES

ERC-2011-AdG HAIRBUNDLE

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

Human and mouse hereditary deafness

The tip-link molecular complex of the auditory mechano-electrical transduction machinery

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

From genes to the molecular physiology of hearing

Human and mouse hereditary deafness

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

Auditory Therapies Innovation Lab

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss

Specific aspects of consanguinity: some examples from the Tunisian population

Genetics of auditory mechano-electrical transduction

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models Atteinte rétinienne dans le syndrome de Usher : contribution des modèles animaux à la physiopathologie

[Gene therapy for human hearing loss: challenges and promises].

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

Auditory hair cell centrioles undergo confined Brownian motion throughout the developmental migration of the kinocilium

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

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

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

Wrapping up stereocilia rootlets

Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape

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

Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins

Linking genes underlying deafness to hair-bundle development and function

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

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

[Chapter 8] Mouse Models for Human Hereditary Deafness

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.

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

From deafness genes to hearing mechanisms: harmony and counterpoint

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.

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

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

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

Memorial lecture-hereditary sensory defects: from genes to pathogenesis

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

[Hereditary deafness: molecular genetics]

Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear

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

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear

Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.

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

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34

DFNB21

DFNB9