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Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

The Journal of neuroscience, 2007-06, Vol.27 (24), p.6478-6488

2007

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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

Human molecular genetics, 2005-12, Vol.14 (24), p.3921-3932

2005

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

Journal of medical genetics, 2004-02, Vol.41 (2), p.e14-14

2004

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

Human molecular genetics, 1996-01, Vol.5 (1), p.155-158

1996

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

Journal of medical genetics, 2003-11, Vol.40 (11), p.832-836

2003

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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

Proceedings of the National Academy of Sciences - PNAS, 2011-04, Vol.108 (14), p.5825-5830

2011

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OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

American journal of human genetics, 2000-09, Vol.67 (3), p.591-600

2000

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An α-Tectorin Gene Defect Causes a Newly Identified Autosomal Recessive Form of Sensorineural Pre-Lingual Non-Syndromic Deafness, DFNB21

Human molecular genetics, 1999-03, Vol.8 (3), p.409-412

1999

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

European journal of human genetics : EJHG, 2002-03, Vol.10 (3), p.210-212

2002

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

Human genetics, 2003, Vol.112 (1), p.24-28

2003

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Mapping of DFNB12, a Gene for a Non-Syndromal Autosomal Recessive Deafness, to Chromosome 10q21–22

Human molecular genetics, 1996-07, Vol.5 (7), p.1061-1064

1996

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

European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.185-188

2003

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

European journal of human genetics : EJHG, 1998-05, Vol.6 (3), p.245-250

1998

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

Clinical genetics, 2000-06, Vol.57 (6), p.439-443

2000

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Déficits héréditaires de l'audition chez l'enfant: Les maladies génétiques sensorielles

Annales de l'Institut Pasteur. Actualités, 1995, Vol.6 (4), p.304-309

1995

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Brain cross‐protection against SARS‐CoV‐2 variants by a lentiviral vaccine in new transgenic mice

EMBO molecular medicine, 2021-12, Vol.13 (12), p.e14459-n/a

2021

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Mice humanized for MHC and hACE2 with high permissiveness to SARS-CoV-2 omicron replication

Microbes and infection, 2023-09, Vol.25 (7), p.105142-105142, Article 105142

2023

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

American journal of human genetics, 2016-06, Vol.98 (6), p.1266-1270

2016

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

European journal of human genetics : EJHG, 2002-03, Vol.10 (3), p.210-212

2002

Volltextzugriff (PDF)

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22,1

European journal of human genetics : EJHG, 2003, Vol.11 (2), p.185-188

2003

Volltextzugriff (PDF)

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

Human molecular genetics, 1999-03, Vol.8 (3), p.409

1999

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La banque de données bibliographiques FRANCIS-Préhistoire-Protohistoire: 15 ans après

Bulletin de la Société préhistorique française, 1986-01, Vol.83 (10), p.294-298

1986

Volltextzugriff (PDF)

Deficits héréditaires de l'audition chez l'enfant

Annales de l'Institut Pasteur. Actualités, 1995, Vol.6 (4), p.304-309

1995

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Medical Sciences
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Chromosome Mapping
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Ear, Auditive Nerve, Cochleovestibular Tract, Facial Nerve: Diseases, Semeiology
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Non Tumoral Diseases
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Otorhinolaryngology. Stomatology
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Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

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

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

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

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

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

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

An α-Tectorin Gene Defect Causes a Newly Identified Autosomal Recessive Form of Sensorineural Pre-Lingual Non-Syndromic Deafness, DFNB21

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

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

Mapping of DFNB12, a Gene for a Non-Syndromal Autosomal Recessive Deafness, to Chromosome 10q21–22

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

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

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

Déficits héréditaires de l'audition chez l'enfant: Les maladies génétiques sensorielles

Brain cross‐protection against SARS‐CoV‐2 variants by a lentiviral vaccine in new transgenic mice

Mice humanized for MHC and hACE2 with high permissiveness to SARS-CoV-2 omicron replication

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

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

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22,1

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

La banque de données bibliographiques FRANCIS-Préhistoire-Protohistoire: 15 ans après

Deficits héréditaires de l'audition chez l'enfant

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