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

Proceedings of the National Academy of Sciences - PNAS, 2019-03, Vol.116 (10), p.4496-4501

2019

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

Proceedings of the National Academy of Sciences - PNAS, 2019-12, Vol.116 (51), p.25948-25957

2019

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

The FASEB journal, 2014-08, Vol.28 (8), p.3734-3744

2014

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

The Journal of cell biology, 2012-10, Vol.199 (2), p.381-399

2012

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

PLoS genetics, 2012-08, Vol.8 (8), p.e1002896-e1002896

2012

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

Scientific reports, 2020-10, Vol.10 (1), p.16430-16430, Article 16430

2020

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

EMBO molecular medicine, 2014-06, Vol.6 (7), p.984-992

2014

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

Development (Cambridge), 2008-04, Vol.135 (8), p.1427-1437

2008

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

PLoS genetics, 2006-10, Vol.2 (10), p.e175-e175

2006

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

FEBS letters, 2017-08, Vol.591 (15), p.2299-2310

2017

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PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

Human molecular genetics, 2009-01, Vol.18 (1), p.75-81

2009

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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

The Journal of clinical investigation, 2010-10, Vol.120 (10), p.3668-3672

2010

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

Proceedings of the National Academy of Sciences - PNAS, 2007-04, Vol.104 (15), p.6229-6234

2007

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

Human molecular genetics, 2003-01, Vol.12 (1), p.13-21

2003

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

PloS one, 2016-09, Vol.11 (9), p.e0161893-e0161893

2016

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Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

Nature, 2008-11, Vol.456 (7219), p.255-258

2008

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

Current biology, 2002-07, Vol.12 (13), p.1106-1111

2002

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Kallmann syndrome

European journal of human genetics : EJHG, 2009-02, Vol.17 (2), p.139-146

2009

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

Orphanet journal of rare diseases, 2015-08, Vol.10 (1), p.96-96, Article 96

2015

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

Nature reviews. Endocrinology, 2015-09, Vol.11 (9), p.547

2015

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

European journal of endocrinology, 2013-12, Vol.169 (6), p.805

2013

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

PloS one, 2015-03, Vol.10 (3), p.e0120584-e0120584

2015

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

Human mutation, 2005-01, Vol.25 (1), p.98-99

2005

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

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

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

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

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

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

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

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

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

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

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

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

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

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

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

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

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

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

Kallmann syndrome

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

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

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

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