Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Patrick Revy"'
Autor:
Michael Schertzer, Laurent Jullien, André L. Pinto, Rodrigo T. Calado, Patrick Revy, Arturo Londoño-Vallejo
Publikováno v:
Cells, Vol 12, Iss 24, p 2798 (2023)
Regulator of TElomere Length Helicase 1 (RTEL1) is a helicase required for telomere maintenance and genome replication and repair. RTEL1 has been previously shown to participate in the nuclear export of small nuclear RNAs. Here we show that RTEL1 def
Externí odkaz:
https://doaj.org/article/4dad15806383433abf306aa44ac37893
Autor:
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Shwachman-Diamond syndrome (SDS) is a leukemia predisposition disorder that is caused by defective release of eIF6 during ribosome assembly. Here the authors show that acquired somatic EIF6 mutations are frequent in the hematopoietic cells from indiv
Externí odkaz:
https://doaj.org/article/a48dd70c00914ebb83beed70d65306d7
Autor:
Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A. Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau-Frachon, Albertien M. van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Géraldine Mollet
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
The biosynthesis of N6-threonylcarbamoylated adenosine 37 in tRNA (t6A) involves the YRDC enzyme and the KEOPS complex. Here, the authors report mutations in YRDC and the KEOPS component GON7 in Galloway-Mowat syndrome and determine the crystal struc
Externí odkaz:
https://doaj.org/article/77cd12b7d5974fda8810f1a228293257
Autor:
Spyros A. Papiris, Panagiotis Tsirigotis, Caroline Kannengiesser, Lykourgos Kolilekas, Konstantinos Gkirkas, Andriana I. Papaioannou, Patrick Revy, Paschalina Giouleka, Georgia Papadaki, Konstantinos Kagouridis, Vassiliki Pappa, Raphael Borie, Catherine Boileau, Demosthenes Bouros, Bruno Crestani, Effrosyni D. Manali
Publikováno v:
Respiratory Research, Vol 20, Iss 1, Pp 1-4 (2019)
Abstract Previous studies have shown that the co-existence of bone marrow failure and pulmonary fibrosis in a single patient or in a family is suggestive of telomere related genes (TRG) germline mutations. This study presents the genetic background,
Externí odkaz:
https://doaj.org/article/8b1c09e0e46346c7b2993906f2408034
Autor:
Maname Benyelles, Harikleia Episkopou, Marie‐Françoise O'Donohue, Laëtitia Kermasson, Pierre Frange, Florian Poulain, Fatma Burcu Belen, Meltem Polat, Christine Bole‐Feysot, Francina Langa‐Vives, Pierre‐Emmanuel Gleizes, Jean‐Pierre de Villartay, Isabelle Callebaut, Anabelle Decottignies, Patrick Revy
Publikováno v:
EMBO Molecular Medicine, Vol 11, Iss 7, Pp 1-19 (2019)
Abstract PARN, poly(A)‐specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic PARN mutations were associated with Høyeraal–Hreidarsson (HH) syndrome, a rare t
Externí odkaz:
https://doaj.org/article/6b17fc6a05d04cf4a3910e137cab5d9f
Autor:
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/8657ae5e714d4945aeb05193ccfe9904
Autor:
Fabien Touzot, Laetitia Kermasson, Laurent Jullien, Despina Moshous, Christelle Ménard, Aydan Ikincioğullari, Figen Doğu, Sinan Sari, Vannina Giacobbi-Milet, Amos Etzioni, Jean Soulier, Arturo Londono-Vallejo, Alain Fischer, Isabelle Callebaut, Jean-Pierre de Villartay, Thierry Leblanc, Caroline Kannengiesser, Patrick Revy
Publikováno v:
Blood Advances, Vol 1, Iss 1, Pp 36-46 (2016)
Abstract: Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from being recognized as DNA breaks by the DNA repair machinery. RTEL1 is a DNA helicase
Externí odkaz:
https://doaj.org/article/679a3be62f314a0591550932d6fe3b8a
Autor:
Chloé Lescale, Vincent Abramowski, Marie Bedora-Faure, Valentine Murigneux, Gabriella Vera, David B. Roth, Patrick Revy, Jean-Pierre de Villartay, Ludovic Deriano
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Antigen receptor diversity relies on careful DNA cleavage and repair. Here the authors identify a functional interplay between RAG2 and XLF during V(D)J recombination, revealing an important role for the RAG complex in repairing induced DNA double-st
Externí odkaz:
https://doaj.org/article/45b3d85d8e094ec8ba4c1f14631de376
Autor:
Jean Galtier, Sophie Dimicoli-Salazar, Aurélien Trimouille, Elodie Lainey, Patrick Revy, Audrey Bidet, Yoann Vial, Edouard Forcade, Marie-Laure Negrier-Leibreich, Etienne Rivière, Julie Tinat, Nathalie Le Meur, Christelle Ménard, Arnaud Pigneux, Thibaut Leguay, Pierre-Yves Dumas, Ba Ibrahima, Caroline Kannengiesser
Publikováno v:
Leukemia & Lymphoma. 64:487-490
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::518f4a3ee2301252b619cacb9417835c
https://doi.org/10.1080/10428194.2022.2148377
https://doi.org/10.1080/10428194.2022.2148377
Autor:
Erika Brunet, Didier Surdez, Olivier Delattre, Thomas G.P. Grünewald, Maria Jasin, Mark Tomishima, Sophie Kaltenbach, Lucile Couronné, Isabelle Janoueix-Lerosey, Cécile Pierre-Eugène, Carine Giovannangeli, Anne De Cian, Benjamin Renouf, Patrick Revy, Sakina Zaïdi, Loelia Babin, Maxime Heintzé, Sandrine Grossetête, Anna Sole
Ewing sarcoma is characterized by pathognomonic translocations, most frequently fusing EWSR1 with FLI1. An estimated 30% of Ewing sarcoma tumors also display genetic alterations in STAG2, TP53, or CDKN2A (SPC). Numerous attempts to develop relevant E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23b462046e012718bca74554bcfef791
https://doi.org/10.1158/0008-5472.c.6513129.v1
https://doi.org/10.1158/0008-5472.c.6513129.v1
