A5056516523- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- Hearing Loss and Rehabilitation
- Congenital heart defects research
- Iron Metabolism and Disorders
- RNA regulation and disease
- Connexins and lens biology
- Cancer-related molecular mechanisms research
- Ear Surgery and Otitis Media
- Hemoglobinopathies and Related Disorders
- Autophagy in Disease and Therapy
- Cancer-related gene regulation
- Blood Coagulation and Thrombosis Mechanisms
- RNA and protein synthesis mechanisms
- Fibroblast Growth Factor Research
- Marine animal studies overview
- Animal Nutrition and Physiology
- Ion channel regulation and function
- Prenatal Screening and Diagnostics
- Protein Tyrosine Phosphatases
- Pediatric health and respiratory diseases
- Coronary Artery Anomalies
- Peroxisome Proliferator-Activated Receptors
- Developmental Biology and Gene Regulation
- Hemophilia Treatment and Research
Institut Pasteur
2010-2025
Inserm
2010-2025
Université Paris Cité
2015-2025
Centre National de la Recherche Scientifique
2025
Assistance Publique – Hôpitaux de Paris
2025
Sorbonne Université
2012-2020
Centre de Référence Déficits Immunitaires Héréditaires
2003-2019
Pasteur Institute of Iran
2004
Clarin-1, a tetraspan-like membrane protein defective in Usher syndrome type IIIA (USH3A), is essential for hair bundle morphogenesis auditory cells. We report new synaptic role clarin-1 mouse cells elucidated by characterization of Clrn1 total (Clrn1ex4–/–) and postnatal cell–specific conditional (Clrn1ex4fl/fl Myo15-Cre+/–) knockout mice. Clrn1ex4–/– mice were profoundly deaf, whereas Clrn1ex4fl/fl Myo15-Cre+/– displayed progressive increases hearing thresholds, with, initially, normal...
Significance Noise-induced hearing loss is a highly prevalent form of sensorineural impairment affecting individuals all ages. Noise exposure triggers rapid increase in reactive oxygen species (ROS) levels, causing oxidative damage to auditory hair cells and resulting loss. Here we describe novel mechanism protection against noise-induced cell damage. In response sound exposure, pejvakin, peroxisome-associated protein, acts as an ROS sensor recruits the autophagy machinery trigger...
We report a consanguineous Iranian family affected by congenital profound sensorineural deafness segregating in an autosomal recessive mode. Auditory tests implicated at least cochlear defect these patients. mapped the deafness, (DFNB) locus involved linkage analysis to 4.8 Mb region chromosome 21q22.3-qter. Exclusion of DFNB8/10 gene TMPRSS3, located this chromosomal interval, led us identify new locus, DFNB98. Whole exome sequencing allowed homozygous frame-shifting mutation...
Significance Presbycusis, or age-related hearing loss, is a major public health issue and the principal potentially modifiable risk factor for dementia. It caused by environmental factors largely uncharacterized genetic factors. We compared DNA sequences across genomic coding regions between familial sporadic cases of severe presbycusis controls with normal hearing. The frequency ultrarare predicted pathogenic variants in genes known to cause dominant early-onset forms deafness was...
Hearing loss is a major health concern affecting millions of people worldwide with currently limited treatment options. In clarin-2-deficient Clrn2
Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, hearing inherited. Hereditary a very heterogeneous trait with about 100 gene localizations and 44 identifications for non‐syndromic loss. Transmembrane channel‐like ( TMC1 ) has been identified as disease‐causing autosomal dominant recessive at DFNA36 DFNB7/11 loci, respectively. To date, 2 18 mutations have reported cause 34 families. this report, we describe linkage to...
Abstract Auditory neuropathies affect the spiral ganglion neurons of auditory nerve or their synapses with sensory hair cells, distorting sound information transmitted from ear to brain. Deciphering underlying pathophysiological mechanisms remains challenging owing diversity neuron subtypes and associated central circuits. An neuropathy mechanism is unraveled by investigating origin hyperexcitability in a mouse model for hereditary congenital deafness. Otogl encodes large Otogelin‐like...
Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is most frequent known TMC1 gene. To study origin this and determine whether it arose common ancestor, we analyzed 21 polymorphic markers spanning 11 unrelated individuals from Algeria, Iran, Iraq, Lebanon, Pakistan, Tunisia, Turkey who carry...
Article26 August 2019Open Access Transparent process Clarin-2 is essential for hearing by maintaining stereocilia integrity and function Lucy A Dunbar Mammalian Genetics Unit, MRC Harwell Institute, Harwell, UK Search more papers this author Pranav Patni Déficits Sensoriels Progressifs, Institut Pasteur, INSERM UMR-S 1120, Sorbonne Universités, Paris, France Carlos Aguilar Philomena Mburu Laura Corns Department of Biomedical Science, University Sheffield, Helena RR Wells Twin Research &...