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Your search keyword '"El Amraoui, Aziz"' showing total 3 results
Start Over Author "El Amraoui, Aziz" Journal human genetics
3 results on '"El Amraoui, Aziz"'

2. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Author

Vona, Barbara, Mazaheri, Neda, Lin, Sheng-Jia, Dunbar, Lucy A., Maroofian, Reza, Azaiez, Hela, Booth, Kevin T., Vitry, Sandrine, Rad, Aboulfazl, Rüschendorf, Franz, Varshney, Pratishtha, Fowler, Ben, Beetz, Christian, Alagramam, Kumar N., Murphy, David, Shariati, Gholamreza, Sedaghat, Alireza, Houlden, Henry, Petree, Cassidy, VijayKumar, Shruthi, Smith, Richard J. H., Haaf, Thomas, El-Amraoui, Aziz, Bowl, Michael R., Varshney, Gaurav K., and Galehdari, Hamid

Published
2021
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3. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

Author

Sedigheh Delmaghani, Aziz EL-AMRAOUI, Déficits Sensoriels Progressifs, Pathophysiologie et Thérapie / Progressive Sensory Disorders, Pathophysiology and Therapy (DSP), Sorbonne Université (SU)-Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), The work in the authors’ laboratories was funded by the French National Research Agency (ANR), as part of the second 'Investissements d’Avenir' program (light4deaf, ANR-15-RHUS-0001), and LabEx LIFESENSES (ANR-10-LABX-65), ANR-HearInNoise (ANR-17-CE16-0017), EuroNanoMed-NanoEar (ANR-21-ENM3-0003-04), LHW-Stiftung, Fondation de France, Fondation Maladies Rares, Retina-France, and Fondation pour l’Audition (FPA-19-Stg)., ANR-15-RHUS-0001,LIGHT4DEAF,ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER(2015), ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010), ANR-17-CE16-0017,HearInNoise,Surdité d'apparition tardive et progressive: de la physiopathologie à la thérapie(2017), ANR-21-ENM3-0003,NANOEAR,New DX243-conjugated nanoparticles as a neuroprotective drug for hearing loss(2021), EL-AMRAOUI, Aziz, ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER - - LIGHT4DEAF2015 - ANR-15-RHUS-0001 - RHUS - VALID, DES SENS POUR TOUTE LA VIE - - LIFESENSES2010 - ANR-10-LABX-0065 - LABX - VALID, Surdité d'apparition tardive et progressive: de la physiopathologie à la thérapie - - HearInNoise2017 - ANR-17-CE16-0017 - AAPG2017 - VALID, and New DX243-conjugated nanoparticles as a neuroprotective drug for hearing loss - - NANOEAR2021 - ANR-21-ENM3-0003 - EuroNanoMed III - VALID

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], Mutation, otorhinolaryngologic diseases, Genetics, Humans, Usher Syndromes, Genetics (clinical), Genetic Association Studies
Abstract

Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under investigation. The traditional clinical classification of Usher syndrome defines three major subtypes—USH1, 2 and 3—according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1, USH2A, ADGRV1, and WHRN for USH2, and CLRN1 for USH3. Based on the co-occurrence of hearing and vision deficits, the list of USH genes has been extended to few other genes, but with limited supporting information. A consensus on combined criteria for Usher syndrome is crucial for the development of accurate diagnosis and to improve patient management. In recent years, a wealth of information has been obtained concerning the properties of the Usher proteins, related molecular networks, potential genotype–phenotype correlations, and the pathogenic mechanisms underlying the impairment or loss of hearing, balance and vision. The advent of precision medicine calls for a clear and more precise diagnosis of Usher syndrome, exploiting all the existing data to develop a combined clinical/genetic/network/functional classification for Usher syndrome.

Published
2022
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