J. Hardelin

发表

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

P. Legrain, C. Petit, A. El-Amraoui, 2005, Human molecular genetics.

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

M. Maghnie, M. Dattani, R. Quinton, 2015, Nature Reviews Endocrinology.

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

J. Weissenbach, D. Paslier, J. Claverie, 1991, Cell.

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

W. Hauswirth, P. Avan, C. Petit, 2019, Proceedings of the National Academy of Sciences.

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

C. Petit, J. Hardelin, R. Legouis, 1994, Anatomy and Embryology.

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

C. Petit, A. El-Amraoui, J. Hardelin, 2017, FEBS letters.

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

E. Vizi, P. Avan, C. Petit, 2015, Cell.

Clinical genetics of Kallmann syndrome.

J. Hardelin, C. Dodé, 2010, Annales d'endocrinologie.

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

D. Pfaff, C. Petit, J. Hardelin, 1996, The Journal of comparative neurology.

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

K. Willecke, M. Cohen-Salmon, C. Petit, 2003, Human molecular genetics.

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

P. Meda, M. Cohen-Salmon, C. Petit, 2007, Proceedings of the National Academy of Sciences.

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

C. Petit, J. Hardelin, M. Louha, 2018, International journal of pediatric otorhinolaryngology.

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

J. Rothman, P. Avan, C. Petit, 2017, eLife.

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

M. Maghnie, M. Dattani, R. Quinton, 2015, Nature Reviews Endocrinology.

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

J. Hardelin, P. Touraine, C. Eloit, 2003, The Journal of clinical endocrinology and metabolism.

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

J. Hardelin, Jacques Young, C. Cruaud, 2012, PLoS genetics.

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

P. Avan, C. Petit, Vincent Michel, 2014, EMBO Molecular Medicine.

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

J. Hardelin, C. Dodé, J. Sarfati, 2013, European journal of endocrinology.

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

C. Petit, D. Weil, J. Hardelin, 2014, PloS one.

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

J. Hardelin, Jacques Young, D. Lacombe, 2014, The Journal of clinical endocrinology and metabolism.

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.

C. Fallet-Bianco, J. Hardelin, C. Dodé, 2010, The Journal of clinical investigation.

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

P. Tonella, B. Conrad, J. Hardelin, 2010, The Journal of clinical endocrinology and metabolism.

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

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

C. Petit, J. Hardelin, S. Abdelhak, 2015, PloS one.

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.

G. Labesse, J. Hardelin, J. Pin, 2009, Human molecular genetics.

Analysis of a brain-specific isozyme. Expression and chromatin structure of the rat aldolase C gene and transgenes.

J. Hardelin, P. Briand, A. Kahn, 1994, The Journal of biological chemistry.

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

C. Petit, S. Chardenoux, J. Hardelin, 2016, American journal of human genetics.

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

C. Petit, J. Hardelin, M. Louha, 2016, International journal of pediatric otorhinolaryngology.

The human SOX11 gene: cloning, chromosomal assignment and tissue expression.

J. Hardelin, P. Koopman, S. Taviaux, 1995, Genomics.

Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal.

D. Pfaff, C. Petit, J. Hardelin, 2003, Brain research. Developmental brain research.

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

J. Hardelin, Jacques Young, J. Bertherat, 2013, American journal of human genetics.

Kallmann syndrome

J. Hardelin, C. Dodé, 2009, European Journal of Human Genetics.

Biased signaling through G‐protein‐coupled PROKR2 receptors harboring missense mutations

J. Hardelin, J. Pin, P. Rondard, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Targeted Ablation of Connexin26 in the Inner Ear Epithelial Gap Junction Network Causes Hearing Impairment and Cell Death

K. Willecke, M. Cohen-Salmon, C. Petit, 2002, Current Biology.

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

C. Petit, J. Hardelin, Christine Petit, 1995, Bailliere's clinical endocrinology and metabolism.

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

F. Speleman, C. Petit, R. Coimbra, 2003, Nature Genetics.

Kallmann syndrome: towards molecular pathogenesis

J. Hardelin, 2001, Molecular and Cellular Endocrinology.

The Complex Genetics of Kallmann Syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

J. Hardelin, C. Dodé, 2008, Sexual Development.

The Complex Genetics of Kallmann Syndrome : KAL 1 , FGFR 1 , FGF 8 , PROKR 2 , PROK

J. Hardelin, C. Dodé, 2008 .

Xp22.3 deletions in isolated familial Kallmann's syndrome.

C. Petit, J. Hardelin, J. Young, 1993, The Journal of clinical endocrinology and metabolism.

Molecular genetics of hearing loss.

C. Petit, J. Hardelin, J. Levilliers, 2001, Annual review of genetics.

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

C. Petit, J. Hardelin, J. Betton, 1996, Journal of cell science.

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

J. Hardelin, M. Grati, S. Masmoudi, 2000, American journal of medical genetics.

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

P. Avan, C. Petit, Vincent Michel, 2017, Proceedings of the National Academy of Sciences.

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

P. Bouloux, C. Petit, S. Blanchard, 1993, Human molecular genetics.

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

J. Hardelin, Jacques Young, D. Lacombe, 2005, Human mutation.

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

J. Hardelin, C. Dodé, 2004, Journal of Molecular Medicine.

Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner.

C. Petit, J. Hardelin, G. Rougon, 1998, Journal of cell science.

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

C. Petit, D. Weil, Vincent Michel, 2010, Development.

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

J. Sahel, C. Petit, D. Weil, 2012, The Journal of cell biology.

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

U. Wolfrum, C. Petit, D. Weil, 2008, Development.

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

J. Hardelin, S. Jacquemont, C. Dodé, 2008, European Journal of Human Genetics.

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

P. Chanson, J. Hardelin, Jacques Young, 2008, The Journal of clinical endocrinology and metabolism.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

C. Petit, J. Hardelin, Jacques Young, 2006, PLoS genetics.

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

K. Devriendt, G. Mortier, J. Hardelin, 2007, Human mutation.

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

C. Petit, J. Hardelin, Amel Bahloul, 2016, PloS one.

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

C. Petit, Vincent Michel, J. Hardelin, 2010, Human molecular genetics.

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

J. Tinevez, C. Petit, D. Weil, 2009, Pflügers Archiv - European Journal of Physiology.

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

J. Weissenbach, C. Petit, D. Weil, 2002, Genome research.

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

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

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

M. Cohen-Salmon, S. Blanchard, J. Hardelin, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Gene expression pattern Characterization of the two zebra ® sh orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome

H. Korn, C. Petit, J. Hardelin, 1999 .

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

P. Avan, C. Petit, D. Weil, 2009, EMBO molecular medicine.

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

C. Verney, C. Petit, J. Hardelin, 1999, Developmental dynamics : an official publication of the American Association of Anatomists.

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

C. Petit, A. El-Amraoui, J. Hardelin, 2000, Proceedings of the National Academy of Sciences of the United States of America.

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

J. Hardelin, C. Dodé, X. Rovira, 2017, Human molecular genetics.

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

C. Petit, A. El-Amraoui, J. Hardelin, 2017, Proceedings of the National Academy of Sciences.

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

Makoto Sato, C. Petit, D. Weil, 2007, The Journal of Neuroscience.

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

J. Sahel, E. Zrenner, C. Petit, 2016, European Journal of Human Genetics.

[Hereditary deafness: molecular genetics].

C. Petit, J. Hardelin, F. Denoyelle, 2004, Medecine sciences : M/S.

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

C. Petit, J. Hardelin, M. Dahmani, 2015, Orphanet Journal of Rare Diseases.

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.

Molecular mechanism of a frequent genetic form of deafness.

C. Petit, Vincent Michel, J. Hardelin, 2003, The New England journal of medicine.

Nicotine inhibits the VTA-to-amygdala dopamine pathway to promote anxiety

P. Faure, U. Maskos, J. Hardelin, 2021, Neuron.

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

C. Petit, Vincent Michel, J. Hardelin, 2020, Scientific Reports.

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

P. Avan, C. Petit, D. Weil, 2011, Proceedings of the National Academy of Sciences.

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

P. Legrain, C. Petit, A. El-Amraoui, 2005, Journal of Cell Science.

Unconventional Myosin VIIA Is a Novel A-kinase-anchoring Protein*

C. Petit, A. El-Amraoui, J. Hardelin, 2000, The Journal of Biological Chemistry.

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

C. Petit, D. Weil, J. Hardelin, 2015, Molecular genetics & genomic medicine.

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.

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

C. Petit, J. Hardelin, M. Louha, 2014, Orphanet Journal of Rare Diseases.

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

E. Chouery, A. Mégarbané, J. Hardelin, 2005, European journal of endocrinology.

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

J. Claverie, L. Bougueleret, C. Petit, 1993, Genomics.

Kallmann syndrome: towards molecular pathogenesis

J. Hardelin, 2001, Molecular and Cellular Endocrinology.

Kallmann syndrome.

J. Hardelin, J. Levilliers, M. Tatsumoto, 2017, Advances in oto-rhino-laryngology.

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

C. Petit, J. Hardelin, M. Louha, 2016, International journal of pediatric otorhinolaryngology.

The interpeduncular nucleus blunts the rewarding effect of nicotine

J. Hardelin, P. Corringer, A. Mourot, 2023, bioRxiv.

consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment. Nature Reviews Endocrinology 2015, 11(9), 547-564.

M. Maghnie, M. Dattani, J. Hardelin, 2022 .

Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner.

C. Petit, J. Hardelin, G. Rougon, 1998, Journal of Cell Science.

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

J. Hardelin, C. Dodé, J. Sarfati, 2013, European journal of endocrinology.

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

P. Avan, C. Petit, Vincent Michel, 2017, Proceedings of the National Academy of Sciences.