List of works - Jean-Pierre Hardelin

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

scientific article published on 18 December 2009

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

scientific article

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

scientific article

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

scientific article published on 27 July 2016

Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal

scientific article published in February 2003

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

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

scientific article published on 20 February 2008

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

scientific article

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

scientific article

Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient

scientific article published in June 2005

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

scientific article

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

scientific article published on 27 June 2017

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

scientific article (publication date: 2003)

Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis

scientific article

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

scientific article

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

scientific article published on 2 March 2017

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

scientific article

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

scientific article published on 15 February 2015

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

scientific article

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

scientific article

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

scientific article

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

scientific article

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

scientific article published on November 2009

Hereditary deafness: molecular genetics

scientific article published in March 2004

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

scientific article published in November 2015

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

scientific article published on 8 September 2004

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

scientific article published on 20 October 2006

Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations

scientific article published on 26 December 2007

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

scientific article

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

scientific article

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

scientific article published on 10 March 2003

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

scientific article published on May 2013

Molecular Mechanism of a Frequent Genetic Form of Deafness

article

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

scientific article

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

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

scientific article

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

scientific article published on 7 November 2017

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

scientific journal article

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

scientific article (publication date: 3 January 2000)

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

scientific article

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

scientific article

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

scientific article

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

scientific article

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in 2014

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene

scientific article published in May 2003

List of works by Jean-Pierre Hardelin

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

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

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

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

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

Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal

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

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

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

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

Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient

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

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

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

Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

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

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

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

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

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

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

Hereditary deafness: molecular genetics

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

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

Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations

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

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

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

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

Molecular Mechanism of a Frequent Genetic Form of Deafness

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

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

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

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

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

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

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

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

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

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

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

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

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

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

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

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene