日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing

Clarin-1 和 Clarin-2 两种耳聋相关蛋白之间的补偿性相互作用决定了听力表型的变异性

Wentling, Maureen; Yakhlef Sanchez, Aïda; Thelen, Nicolas; Senarisoy, Müge; Hogg, Maria; Condamine, Steven; Lelli, Andrea; Wysocka, Emilia; Patni, Pranav; Vitry, Sandrine; Yildizhan, Kerem Yasin; Le Gal, Sébastien; Nouaille, Sylvie; Bowl, Michael R; Thiry, Marc; Dulon, Didier; Delmaghani, Sedigheh; El-Amraoui, Aziz

Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism.

解析 Otogl 突变小鼠的听觉过度兴奋性揭示了听觉神经病变机制

Gagliardini Mathilde, Mechaussier Sabrina, Campos Pina Carolina, Morais Monica, Postal Olivier, Jean Philippe, Dupont Typhaine, Singh-Estivalet Amrit, Udugampolage Shéhanie, Scandola Cyril, Verpy Elisabeth, Libé-Philippot Baptiste, Inbar Talya C, Schwenkgrub Joanna, Spinola Carla Maria Barbosa, Etournay Raphaël, El-Amraoui Aziz, Bathellier Brice, Mallet Adeline, Delmaghani Sedigheh, Giraudet Fabrice, Petit Christine, Gourévitch Boris, Avan Paul, Michalski Nicolas

How a gene fuels ear infections

基因如何引发耳部感染

Delmaghani, Sedigheh; El-Amraoui, Aziz

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss

在进行性听力损失模型中,补充 Clarin-2 基因可持久保护听力。

Mendia, Clara; Peineau, Thibault; Zamani, Mina; Felgerolle, Chloé; Yahiaoui, Nawal; Christophersen, Nele; Papal, Samantha; Maudoux, Audrey; Maroofian, Reza; Patni, Pranav; Nouaille, Sylvie; Bowl, Michael R; Delmaghani, Sedigheh; Galehdari, Hamid; Vona, Barbara; Dulon, Didier; Vitry, Sandrine; El-Amraoui, Aziz

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

内耳基因疗法蓬勃发展:当前前景与未来挑战

Delmaghani, Sedigheh; El-Amraoui, Aziz

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function

Clarin-2 通过维持纤毛的完整性和功能对听力至关重要

Lucy A Dunbar, Pranav Patni, Carlos Aguilar, Philomena Mburu, Laura Corns, Helena Rr Wells, Sedigheh Delmaghani, Andrew Parker, Stuart Johnson, Debbie Williams, Christopher T Esapa, Michelle M Simon, Lauren Chessum, Sherylanne Newton, Joanne Dorning, Prashanthini Jeyarajan, Susan Morse, Andrea Lelli

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

Pejvakin 介导的细胞自噬保护听觉毛细胞免受噪声引起的损伤

Jean Defourny, Alain Aghaie, Isabelle Perfettini, Paul Avan, Sedigheh Delmaghani, Christine Petit

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

CDC14A 基因突变编码一种参与毛细胞纤毛发生的蛋白磷酸酶,导致常染色体隐性遗传的重度至极重度耳聋

Delmaghani Sedigheh, Aghaie Asadollah, Bouyacoub Yosra, El Hachmi Hala, Bonnet Crystel, Riahi Zied, Chardenoux Sebastien, Perfettini Isabelle, Hardelin Jean-Pierre, Houmeida Ahmed, Herbomel Philippe, Petit Christine

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

TMC1基因中p.R34X突变的高频率与非综合征性听力损失相关,这是由于创始人效应所致。

Ben Saïd, Mariem; Hmani-Aifa, Mounira; Amar, Imen; Baig, Shahid Mahmood; Mustapha, Mirna; Delmaghani, Sedigheh; Tlili, Abdelaziz; Ghorbel, Abdelmonem; Ayadi, Hammadi; Van Camp, Guy; Smith, Richard J H; Tekin, Mustafa; Masmoudi, Saber