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Lista de obras de Christine Petit

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

article

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

article

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

artículo científico publicado en 2020

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene

scientific article published on 25 April 2019

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

artículo científico publicado en 1995

A comparative biochemical study of cell synthesizing immunoglobulins without detectable antibody function and of antibody-synthesizing cells

artículo científico publicado en 1977

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

scientific journal article

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

artículo científico publicado en 2000

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).

artículo científico publicado en 1991

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

article

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

artículo científico publicado en 1994

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

artículo científico publicado en 1997

A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome

artículo científico publicado en 1995

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.

artículo científico publicado en 2012

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

artículo científico publicado en 1999

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

artículo científico publicado en 1994

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

artículo científico publicado en 2017

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

artículo científico publicado en 2016

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

artículo científico publicado en 2005

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

artículo científico publicado en 2002

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

artículo científico publicado en 1999

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

artículo científico publicado en 2003

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci

artículo científico publicado en 2004

A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family

artículo científico publicado en 2018

A novel mode of off-frequency hearing as a result of defective outer hair cells hair bundles unveiled by Nherf1-/- mice

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.

artículo científico publicado en 2018

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

artículo científico publicado en 1997

A particular case of deafness-oligodontia syndrome

artículo científico publicado en 1998

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.

artículo científico publicado en 1998

A simple and reliable method for the detection of the 30delG mutation of the CX26 gene

artículo científico publicado en 2000

A specific promoter of the sensory cells of the inner ear defined by transgenesis

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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

artículo científico publicado en 2015

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis

artículo científico publicado en 2019

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females.

artículo científico publicado en 1997

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

artículo científico publicado en 1991

Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus

article published in 1993

An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness

artículo científico publicado en 1987

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

artículo científico publicado en 1999

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

artículo científico publicado en 2016

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature

artículo científico publicado en 1990

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

artículo científico publicado en 2014

Analysis of a major rat idiotype associated with Anti-GAT antibodies.

artículo científico publicado en 1982

Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal

artículo científico publicado en 2003

Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome

artículo científico publicado en 1999

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

artículo científico publicado en 2002

Approche moléculaire de la pathogénie d'un deficit héréditaire de l'olfaction : Le syndrome de Kallmann de Morsier lie au chromosome X

Audition: Hearing and Deafness

Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction

artículo científico publicado en 2017

Auditory distortions: origins and functions

artículo científico

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

artículo científico publicado en 2013

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

artículo científico publicado en 2001

BOR and BO syndromes are allelic defects of EYA1

artículo científico publicado en 1997

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

artículo científico publicado en 2013

Branchio‐otic syndromes imbroglio

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

artículo científico publicado en 2017

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.

artículo científico publicado en 2016

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

scientific journal article

Cadherin defects in inherited human diseases

artículo científico

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

artículo científico publicado en 2010

Cadherins as targets for genetic diseases

artículo científico publicado en 2010

Calcium- and otoferlin-dependent exocytosis by immature outer hair cells

scientific journal article

Cells of adult brain germinal zone have properties akin to hair cells and can be used to replace inner ear sensory cells after damage

artículo científico publicado en 2008

Central auditory deficits associated with genetic forms of peripheral deafness

artículo científico publicado en 2021

Characterisation of DRASIC in the mouse inner ear.

artículo científico publicado en 2004

Characterization and chromosomal assignment of a human cDNA encoding a protein related to the murine 102-kDa cadherin-associated protein (alpha-catenin)

artículo científico publicado en 1993

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

article

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

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

scientific journal article

Characterization of the Chicken and Quail Homologues of the Human Gene Responsible for the X-Linked Kallmann Syndrome

article

Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome

artículo científico publicado en 1995

Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome.

artículo científico publicado en 2000

Chromosomal localisation of a pseudoautosomal growth gene(s) ⬇️

artículo científico publicado el 1 de septiembre de 1992

Chronic mild hyperhomocysteinemia induces aortic endothelial dysfunction but does not elevate arterial pressure in rats

artículo científico publicado en 2005

Ciliary proteins link basal body polarization to planar cell polarity regulation

scientific journal article

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

article

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function

scientific article published on 26 August 2019

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

artículo científico publicado en 2016

Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation

artículo científico publicado en 2019

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

artículo científico publicado en 2004

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

artículo científico publicado en 1999

Cloning and characterization of the mouse collapsin response mediator protein-1, Crmp1.

artículo científico publicado en 1997

Cloning of the genes encoding two murine and human cochlear unconventional type I myosins

artículo científico publicado en 1997

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

artículo científico publicado en 1997

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

artículo científico publicado en 2010

Comparison of the developmental kinetics of antibody- and immunoglobulin-forming cells in normal and tolerant mice

artículo científico publicado en 1978

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

artículo científico publicado en 2011

Conditional knock-out reveals that zygotic vezatin-null mouse embryos die at implantation

artículo científico

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Connexin 26 Gene Mutations in Congenitally Deaf Children

article

Connexin 26 gene linked to a dominant deafness

artículo científico publicado en 1998

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

artículo científico publicado en 2003

Connexins Responsible for Hereditary Deafness — The Tale Unfolds

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

artículo científico publicado en 2010

Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families

artículo científico publicado en 1997

Contribution of human genetics to the understanding of sensory systems

artículo científico publicado en 2000

Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells

artículo científico publicado en 2010

Cost-effectiveness analysis of aprepitant in the prevention of chemotherapy-induced nausea and vomiting in Belgium

artículo científico publicado en 2007

Coupling of the mechanotransduction machinery and F-actin polymerization in the cochlear hair bundles

artículo científico publicado en 2011

DFNA3

artículo científico publicado en 2002

DFNA3.

artículo científico publicado en 2000

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

artículo científico publicado en 2003

DFNB21.

artículo científico publicado en 2002

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

DFNB9 and DFNB12.

artículo científico publicado en 2000

DFNB9.

artículo científico publicado en 2002

DNABarcodeCompatibility: an R-package for optimizing DNA-barcode combinations in multiplex sequencing experiments

scientific article published on 01 August 2019

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

artículo científico publicado en 2000

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

artículo científico publicado en 2012

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

scientific journal article

Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation

article

Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE.

artículo científico publicado en 2000

Development of immuneeoglobulin and antibody-forming cells in different stages of the immun response

artículo científico publicado en 1976

Development of immunoglobulin and antibody-synthesizing cells after immunization with different doses of antigen

article

Different CaV1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells

artículo científico publicado en 2017

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

scientific journal article

Direct detection of idiotypic determinants on blotted monoclonal antibodies

artículo científico publicado en 1982

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

artículo científico publicado en 2019

Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis

artículo científico publicado en 2018

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Early expression of the KAL gene during embryonic development of the chick

artículo científico publicado en 1994

Essential requirement for zebrafish anosmin-1a in the migration of the posterior lateral line primordium

artículo científico

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

artículo científico publicado en 2015

Etiological diagnosis of sensorineural deafness in children: a year-long review of genetic counseling for deaf people

artículo científico publicado en 1998

Evidence for a pseudoautosomal locus for schizophrenia. II: Replication of a non-random segregation of alleles at the DXYS14 locus

artículo científico publicado en 1992

Exclusion of KCNE1 (IsK) as a Candidate Gene for Jervell and Lange-Nielsen Syndrome

article

Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels

artículo científico publicado en 2014

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss

artículo científico publicado en 2013

Expression of myosin VIIA during mouse embryogenesis.

artículo científico publicado en 1997

Expression of the KAL gene in multiple neuronal sites during chicken development.

artículo científico publicado en 1993

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

artículo científico publicado en 2004

Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

artículo científico publicado en 1998

Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme

scientific journal article

From DFNB2 to Usher syndrome: variable expressivity of the same disease

artículo científico publicado en 2001

From deafness genes to hearing mechanisms: harmony and counterpoint

artículo científico publicado en 2006

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study

artículo científico publicado en 2019

Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness

artículo científico publicado en 2001

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.

artículo científico publicado en 2012

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness

scientific article published on 04 December 2019

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

artículo científico publicado en 2005

Gene therapy for human hearing loss: challenges and promises

artículo científico publicado en 2013

Genes Involved in the Development and Physiology of Both the Peripheral and Central Auditory Systems

scientific article published on 30 January 2019

Genes responsible for human hereditary deafness: symphony of a thousand

artículo científico publicado en 1996

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

artículo científico publicado en 2016

Genetic control of the immune response to the L-Glu60-L-Ala30-L-Tyr10 (GAT) terpolymer. V. Three types of idiotypic specificities on BALB/c anti-GAT antibodies

artículo científico publicado en 1981

Genetic control of the immune response to the terpolymer L-glutamic acid 60-L-alanine 30-L-tyrosine10 (GAT). III. Restricted heterogeneity of the anti-GAT response from BALB/c responder mice

artículo científico publicado en 1979

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province

artículo científico publicado en 2018

Genetics of auditory mechano-electrical transduction

artículo científico publicado en 2014

Hair-Bundle Links: Genetics as the Gateway to Function

scientific article published on 02 December 2019

Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells

artículo científico publicado en 2009

Hearing is normal without connexin30

artículo científico publicado en 2013

Hereditary deafness: molecular genetics

artículo científico publicado en 2004

Hereditary sensorineural deafness

artículo científico publicado en 2000

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome

artículo científico publicado en 1993

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

artículo científico publicado en 2016

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

article

Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness.

artículo científico publicado en 1994

How the genetics of deafness illuminates auditory physiology

artículo científico publicado en 2011

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

artículo científico publicado en 1996

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

artículo científico publicado en 2009

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

artículo científico publicado en 1996

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

artículo científico publicado en 2015

Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness

artículo científico publicado en 1998

Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system

artículo científico publicado en 1996

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

scientific journal article

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

scientific article published on 02 October 2020

Interactions in the network of Usher syndrome type 1 proteins

scientific journal article

Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis

artículo científico publicado en 2003

Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome

artículo científico publicado en 1994

Isolation of sequences from Xp22.3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals

artículo científico publicado en 1990

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

artículo científico publicado en 2000

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

artículo científico publicado en 1999

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

artículo científico publicado en 2006

La cellule ciliée externe de la cochlée des mammifères

article published in 2009

Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis

article

Linking genes underlying deafness to hair-bundle development and function

artículo científico publicado en 2009

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.

artículo científico publicado en 2017

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

artículo científico publicado en 2012

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

article

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

artículo científico publicado en 2003

Mapping of the otogelin gene (OTGN) to mouse Chromosome 7 and human Chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18

article

Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness

artículo científico publicado en 2000

Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation

artículo científico publicado en 2018

Memorial lecture?hereditary sensory defects: From genes to pathogenesis

article

Methicillin-resistant Staphylococcus aureus in Saarland, Germany: a statewide admission prevalence screening study

artículo científico publicado en 2013

Migration of luteinizing hormone-releasing hormone (LHRH) neurons in early human embryos

artículo científico publicado en 1996

Molecular Mechanism of a Frequent Genetic Form of Deafness

article

Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome

artículo científico publicado en 1998

Molecular basis of the X-chromosome-linked Kallmann's syndrome

artículo científico publicado en 1993

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

scientific journal article

Molecular genetics of hearing loss

artículo científico publicado en 2001

Mouse models for human hereditary deafness

scientific article published on January 2008

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

artículo científico publicado en 2008

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins

artículo científico publicado en 1997

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma

artículo científico publicado en 2019

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

artículo científico publicado en 2016

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

scientific journal article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

scientific journal article

Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

Myosin VII

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

artículo científico publicado en 1997

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

artículo científico publicado en 2002

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

scientific journal article

Myosin-I nomenclature.

artículo científico publicado en 2001

Neurogenetics

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations

artículo científico publicado en 2002

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

artículo científico publicado en 2016

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

artículo científico publicado en 2000

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.

artículo científico publicado en 2002

Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses

artículo científico publicado en 2017

Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

artículo científico publicado en 1997

PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT

scientific article published on 29 August 2019

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

scientific journal article

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

artículo científico publicado en 2019

Persistence of the nitric oxide pathway in the aorta of hypercholesterolemic apolipoprotein-E-deficient mice

artículo científico publicado en 2003

Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23

artículo científico publicado en 2000

Physical mapping of 14 new DNA markers isolated from the human distal Xp region

artículo científico publicado en 1992

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

artículo científico publicado en 1997

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

artículo científico publicado en 2003

Prevalence and Molecular Analysis of Two Hot Spots for Ectopic Recombination Leading to XX Maleness

artículo científico publicado en 1995

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

artículo científico publicado en 2003

Primary response to GAT in F344 rats: anti-GAT antibodies, nonspecific immunoglobulins, and expression of the GAT-13 idiotype

artículo científico publicado en 1983

Probing the functional equivalence of otoferlin and synaptotagmin 1 in exocytosis

artículo científico publicado en 2011

Pseudoautosomal region in schizophrenia: Linkage analysis of seven loci by sib-pair and lod-score methods

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Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

artículo científico publicado en 2003

Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.

artículo científico publicado en 2008

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.

artículo científico publicado en 2004

Results of cochlear implantation in two children with mutations in the OTOF gene

artículo científico publicado en 2005

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

scientific article published on 18 July 2019

Role of chromosome Y in sex determination

artículo científico publicado el 30 de marzo de 1991

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

artículo científico publicado en 2004

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

artículo científico publicado en 2006

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

artículo científico publicado en 2010

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

artículo científico publicado en 2004

Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2)

artículo científico publicado en 1998

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions

scientific journal article

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear.

artículo científico publicado en 2001

Specific aspects of consanguinity: some examples from the Tunisian population

artículo científico publicado en 2014

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.

artículo científico publicado en 2017

SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium Manipulation

artículo científico publicado en 2020

SponGee: A Genetic Tool for Subcellular and Cell-Specific cGMP Manipulation

scientific article published on 01 June 2019

Stem cell therapy in the inner ear: recent achievements and prospects

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

artículo científico publicado en 2008

Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem

artículo científico publicado en 2017

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

artículo científico publicado el 1 de diciembre de 1992

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

artículo científico publicado en 2002

T cell dependence of cells synthesizing immunoglobulin without detectable antibody function induced after an antigenic stimulation

artículo científico publicado en 1977

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

artículo científico publicado en 2002

Targeted disruption of otog results in deafness and severe imbalance

scientific journal article

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

artículo científico publicado en 2014

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

artículo científico publicado en 2010

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

artículo científico publicado en 2014

The Pseudoautosomal Region of the Human Sex Chromosomes

scientific article published on 01 January 1986

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.

artículo científico publicado en 1998

The auditory hair cell ribbon synapse: from assembly to function ⬇️

artículo científico publicado el 1 de enero de 2012

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

artículo científico publicado en 1997

The fundamental and medical impacts of recent progress in research on hereditary hearing loss

artículo científico publicado en 1998

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

artículo científico publicado en 2013

The remarkable cochlear amplifier.

artículo científico publicado en 2010

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models

artículo científico

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

scientific article published on 04 June 2019

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

artículo científico

The zebrafish eya1 gene and its expression pattern during embryogenesis

artículo científico publicado en 1999

TheGJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

artículo científico publicado en 2005

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

artículo científico publicado en 1999

Trans-stimulation of T cells: characterization of targets and involvement in loss of alloreactivity.

artículo científico publicado en 1986

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2000

Two cases of Townes-Brocks syndrome with previously undescribed anomalies.

artículo científico publicado en 1998

Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes

artículo científico publicado en 1987

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor

artículo científico publicado en 2002

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome

article

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

scientific article published on 23 November 2020

Unconventional myosin VIIA is a novel A-kinase-anchoring protein

artículo científico publicado en 2000

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

artículo científico publicado en 2004

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

artículo científico publicado en 2005

Usher Syndrome and Color Vision

artículo científico publicado en 2018

Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.

artículo científico publicado en 2017

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

artículo científico publicado en 2003

Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

scientific journal article

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

artículo científico publicado en 2000

Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis

scientific journal article

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

artículo científico publicado en 2009

Viral Transfer of Mini-Otoferlins Partially Restores the Fast Component of Exocytosis and Uncovers Ultrafast Endocytosis in Auditory Hair Cells of Otoferlin Knock-Out Mice

artículo científico publicado en 2019

WITHDRAWN: Top connectors of the hair bundle are required for waveform distortion and suppression masking but not cochlear amplification

retracted article by Paul Avan & Christine Petit published October 2009 in Hearing Research

WITHDRAWN: Top connectors of the hair bundle are required for waveform distortion and suppression masking but not cochlear amplification

retracted paper

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

artículo científico publicado en 2007

Wrapping up Stereocilia Rootlets

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus

scientific article published on 01 October 1991

Xp22.3 deletions in isolated familial Kallmann's syndrome

artículo científico publicado en 1993

[9] Use of immunoblotting to detect idiotypic determinants on monoclonal antibodies

artículo científico publicado en 1989

[Molecular bases of neurosensory deficits in man]

scientific article published on 01 January 1996

alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells

scientific journal article

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