Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)

Autor: Régis Coutant, Maud Bidet, Sophie Catteau-Jonard, Geneviève Plu-Bureau, Anne Bachelot, Lise Duranteau, Phillipe Touraine, Aude Brac de la Perriere, Juliane Léger, Justine Hugon-Rodin, Jean-Pierre Siffroi, Jean Victor Blanc, Véronique Kerlan, Michael Grynberg, Micheline Misrahi, Muriel Houang, Sophie Christin-Maitre, Jean Claude Carel, Michel Polak, Charlotte Sonigo, Delphine Zenaty, B. Donadille, Claire Bouvattier, Laïla El-Khattabi, Frédérique Albarel, Nicolas Chevalier, Maria Givony, Rachel Reynaud, Catherine Pienkowski

Publikováno v: Annales d'Endocrinologie
Annales d'Endocrinologie, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩

International audience; Premature ovarian insufficiency (POI) is a rare pathology affecting 1-2% of under-40 year-old women, 1 in 1000 under-30 year-olds and 1 in 10,000 under-20 year-olds. There are multiple etiologies, which can be classified as pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11297725a415bf1bc6214dbbdeda4d47
https://www.hal.inserm.fr/inserm-03856183

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Autor: Chantal Sellier, Renate K. Hukema, Rob Willemsen, Manon Boivin

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2018, 61 (11), pp.674-679. ⟨10.1016/j.ejmg.2017.11.001⟩
European Journal of Medical Genetics, 61(11), 674-679. Elsevier Masson
European Journal of Medical Genetics, Elsevier, 2018, 61 (11), pp.674-679. ⟨10.1016/j.ejmg.2017.11.001⟩

International audience; Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb4a294c338fc1fb21a17c241f544d04
https://www.hal.inserm.fr/inserm-03376146/document

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

Autor: Jozef Gecz, Mireille Melko, Barbara Bardoni, Elias Bechara, Enzo Lalli, Mounia Bensaid, Maria Vincenza Catania, Laetitia Davidovic, Antonio Berretta

Publikováno v: Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2009, 37 (4), pp.1269-79. ⟨10.1093/nar/gkn1058⟩

International audience; FRAXE is a form of mild to moderate mental retardation due to the silencing of the FMR2 gene. The cellular function of FMR2 protein is presently unknown. By analogy with its homologue AF4, FMR2 was supposed to have a role in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b239ef2b013373a6bbe86c6fd4f6e977
https://doi.org/10.1093/nar/gkn1058

The Drosophila fragile X mental retardation protein participates in the piRNA pathway

Autor: Valeria Specchia, Serafina Massari, Annamaria Geusa, Antonella Friscini, Celine Diebold, Pietro Laneve, Pierre B. Cattenoz, Maria Pia Bozzetti, Angela Giangrande, Silvia Di Tommaso, H. Bahar Sahin

Publikováno v: Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2015, 128 (11), pp.2070-2084. ⟨10.1242/jcs.161810⟩
Journal of Cell Science, 2015, 128 (11), pp.2070-2084. ⟨10.1242/jcs.161810⟩
Journal of cell science 128 (2015): 2070–2084. doi:10.1242/jcs.161810
info:cnr-pdr/source/autori:Bozzetti M.P.; Specchia V.; Cattenoz P.B.; Laneve P.; Geusa A.; Sahin H.B.; Di Tommaso S.; Friscini A.; Massari S.; Diebold C.; Giangrande A./titolo:The Drosophila fragile X mental retardation protein participates in the piRNA pathway/doi:10.1242%2Fjcs.161810/rivista:Journal of cell science/anno:2015/pagina_da:2070/pagina_a:2084/intervallo_pagine:2070–2084/volume:128

RNA metabolism controls multiple biological processes, and a specific class of small RNAs, called piRNAs, act as genome guardians by silencing the expression of transposons and repetitive sequences in the gonads. Defects in the piRNA pathway affect g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d2fafe8fbcb3b1416d25bab34fbbfe
https://hal.archives-ouvertes.fr/hal-03376920

A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model

Autor: Vincent Navratil, Maria Vincenza Catania, Laetitia Davidovic, Carmela M. Bonaccorso, Barbara Bardoni, Marc-Emmanuel Dumas

Publikováno v: Genome Research
Genome Research, Cold Spring Harbor Laboratory Press, 2011, 21 (12), pp.2190-202. ⟨10.1101/gr.116764.110⟩
Genome Research, Cold Spring Harbor Laboratory Press, 2011, 21 (12), pp.2190-202. 〈10.1101/gr.116764.110〉
Genome research 21 (2011): 2190–2202. doi:10.1101/gr.116764.110
info:cnr-pdr/source/autori:Davidovic, Laetitia; Navratil, Vincent; Bonaccorso, Carmela M.; Catania, Maria Vincenza; Bardoni, Barbara; Dumas, Marc-Emmanuel/titolo:A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model/doi:10.1101%2Fgr.116764.110/rivista:Genome research/anno:2011/pagina_da:2190/pagina_a:2202/intervallo_pagine:2190–2202/volume:21

Fragile X syndrome (FXS) is the first cause of inherited intellectual disability, due to the silencing of the X-linked Fragile X Mental Retardation 1 gene encoding the RNA-binding protein FMRP. While extensive studies have focused on the cellular and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e5d5ecdac018891058b05de5ff1755
http://hdl.handle.net/10044/1/21712