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Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Autor: Boucher, Sophie, Tai, Fabienne Wong Jun, Delmaghani, Sedigheh, Lelli, Andrea, Singh-Estivalet, Amrit, Dupont, Typhaine, Niasme-Grare, Magali, Michel, Vincent, Wolff, Nicolas, Bahloul, Amel, Bouyacoub, Yosra, Bouccara, Didier, Fraysse, Bernard, Deguine, Olivier, Collet, Lionel, Thai-Van, Hung, Ionescu, Eugen, Kemeny, Jean-Louis, Giraudet, Fabrice, Lavieille, Jean-Pierre, Devèze, Arnaud, Roudevitch-Pujol, Anne-Laure, Vincent, Christophe, Renard, Christian, Franco-Vidal, Valérie, Thibult-Apt, Claire, Darrouzet, Vincent, Bizaguett, Eric, Coez, Arnaud, Aschard, Hugues, Michalski, Nicolas, Lefevre, Gaëlle M., Aubois, Anne, Avan, Paul, Bonnet, Crystel, Petit, Christine

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2020 Dec 01. 117(49), 31278-31289.

Externí odkaz: https://www.jstor.org/stable/27005667

Splice-altering variant of PJVKgene in a Mauritanian family with non-syndromic hearing impairment

Autor: Salame, Malak, Bonnet, Crystel, Singh-Estivalet, Amrit, Brahim, Selma Mohamed, Roux, Solene, Boussaty, Ely Cheikh, Hadrami, Mouna, Hamed, Cheikh Tijani, Sidi, Abdellahi M’hamed, Veten, Fatimetou, Petit, Christine, Houmeida, Ahmed

Publikováno v: Journal of Applied Genetics; 20240101, Issue: Preprints p1-8, 8p

Glucocorticoids Inhibit Basal and Hormone-Induced Serotonin Synthesis in Pancreatic Beta Cells.

Autor: Hasni Ebou, Moina^1,2,3, Singh-Estivalet, Amrit^1,2,3, Launay, Jean-Marie⁴, Callebert, Jacques⁴, Tronche, François^2,5, Ferré, Pascal^1,2,3, Gautier, Jean-François^1,2,3,6,7, Guillemain, Ghislaine^1,2,3, Bréant, Bernadette^1,2,3, Blondeau, Bertrand^1,2,3 bertrand.blondeau@crc.jussieu.fr, Riveline, Jean-Pierre^1,2,3,6

Publikováno v: PLoS ONE. 2/22/2016, Vol. 11 Issue 2, p1-13. 13p.

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

Autor: Trouillet, Alix, Dubus, Elisabeth, Degardin, Julie, Estivalet, Amrit, Ivkovic, Ivana, Godefroy, David, García-Ayuso, Diego, Simonutti, Manuel, Sahly, Iman, Sahel, José-Alain, El-Amraoui, Aziz, Petit, Christine, Picaud, Serge

Publikováno v: Scientific Reports
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.1968. 〈10.1038/s41598-018-20171-0〉
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Scientific Reports, 2018, 8 (1), pp.1968. ⟨10.1038/s41598-018-20171-0⟩
Scientific Reports, Nature Publishing Group, 2018, 8, pp.1968. ⟨10.1038/s41598-018-20171-0⟩

International audience; Usher syndrome type 1 (USH1) is a major cause of inherited deafness and blindness in humans. The eye disorder is often referred to as retinitis pigmentosa, which is characterized by a secondary cone degeneration following the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db8dcafe9dc2a72006c5c3177edd5458
https://hal-normandie-univ.archives-ouvertes.fr/hal-01945145