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Anne-Laure Roudevitch-Pujol

ORCID: 0000-0002-8048-6885
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About
Contact & Profiles
A5020583530
Research Areas
  • RNA and protein synthesis mechanisms
  • RNA regulation and disease
  • Hearing, Cochlea, Tinnitus, Genetics

Centre hospitalier national d'ophtalmologie des Quinze-Vingts
 2020

 Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
OPENALEX - Publications 
Sophie Boucher Fabienne Wong Jun Tai Sedigheh Delmaghani Andrea Lelli Amrit Singh‐Estivalet and 31 more Typhaine Dupont Magali Niasme-Grare Vincent Michel Nicolas Wolff Amel Bahloul Yosra Bouyacoub D. Bouccara Bernard Fraysse Olivier Déguine Lionel Collet Hung Thai‐Van E. Ionescu Jean-Louis Kémény Fabrice Giraudet Jean‐Pierre Lavieille Arnaud Devèze Anne-Laure Roudevitch-Pujol C. Vincent Christian Renard V. Franco‐Vidal Claire Thibult-Apt Vincent Darrouzet Éric Bizaguet Arnaud Coëz Hugues Aschard Nicolas Michalski G. Lefèvre Anne Aubois Paul Avan Crystel Bonnet Christine Petit

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...

10.1073/pnas.2010782117 article EN Proceedings of the National Academy of Sciences 2020-11-23
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