Zobrazeno 1 - 10
of 224
pro vyhledávání: '"Christine, Bole"'
Autor:
Lisa Zerad, Nadjet Gacem, Fanny Gayda, Lucie Day, Ketty Sinigaglia, Laurence Richard, Melanie Parisot, Nicolas Cagnard, Stephane Mathis, Christine Bole-Feysot, Mary A. O’Connell, Veronique Pingault, Emilie Dambroise, Liam P. Keegan, Jean Michel Vallat, Nadege Bondurand
Publikováno v:
Cells, Vol 13, Iss 23, p 1952 (2024)
Adenosine deaminase acting on RNA 1 (ADAR1) is the principal enzyme for the adenosine-to-inosine RNA editing that prevents the aberrant activation of cytosolic nucleic acid sensors by endogenous double stranded RNAs and the activation of interferon-s
Externí odkaz:
https://doaj.org/article/38377bb1b88b47c49c180d47a8709185
Autor:
Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020
Externí odkaz:
https://doaj.org/article/171f70d6cf7543cf8446ba86ba7ec84b
Autor:
Jonathan Bohlen, Marine Michelet, Federica Barzaghi, Francesco Saettini, Francesca Vendemini, Albert Catala, Laia Alsina, Francesca Conti, Fillippo Consonni, Davide Learndini, Riccardo Masetti, Edoardo Muratore, Francesco Baccelli, Ivan Bagaric, Taja Vatovec, Feroj Seyed, Isabelle Andre, Lori Buetow, Eric Delabesse, Laetitia Largeaud, Cindy Ma, Laurent Abel, Steicy Sobrino, Masato Ogishi, Boris Bessot, Cecile Rouillon, Christine Bole, Yoann Seeleuthner, Tom Le Voyer, Darawan Rinchai, Jeremie Rosain, Peng Zhang, Matthieu Chaldebas, Anna-Lena Neehus, Lucia Erazo, Zarah Janda, Camille Soudee, Chantal Lagrese, Emmanuelle Six, Danny Huang, Stuart Tangye, Vivien Beziat, Eleonora Gambineri, Marinella Veltroni, Miriam Erlacher, Alessandro Aiuti, Marlene Pasquet, Jean-Laurent Casanova, Jacinta Bustamante
Publikováno v:
EJC Paediatric Oncology, Vol 2, Iss , Pp 100040- (2023)
Externí odkaz:
https://doaj.org/article/be8fb3599b1a4e639f2058b5e52b870a
Autor:
Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Mélanie Parisot, Meriem Garfa-Traoré, Amale Ichkou, Nadia Elkhartoufi, Christine Bole, Patrick Nitschke, Jeanne Amiel, Jelena Martinovic, Férechté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently known to be causally involved in hydrocephalus, either isolated or as a common clinica
Externí odkaz:
https://doaj.org/article/65035ff74ed64b7aa3c473b2f4822c5d
Autor:
Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Externí odkaz:
https://doaj.org/article/01f10fc3644d4890add9690ba176560b
Autor:
Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellula
Externí odkaz:
https://doaj.org/article/c86dc26738ec41afaa56ad56dca39196
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:
Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cécile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2021)
ObjectiveTo elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS).Study designWe studied 19 well-characterized patie
Externí odkaz:
https://doaj.org/article/940eef7e0d604b4bb6f77fa5168db589
Autor:
Kalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschke, Fabienne Jabot-Hanin, Agnès Rötig, Sophie Monnot, Arnold Munnich, Nelly Frydman, Julie Steffann
Publikováno v:
Human Reproduction. 38:992-1002
STUDY QUESTION Does mitochondrial deficiency affect human embryonic preimplantation development? SUMMARY ANSWER The presence of a pathogenic mitochondrial variant triggers changes in the gene expression of preimplantation human embryos, compromising
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d5323f7973de574b5cbdc3756f0144a
https://doi.org/10.1093/humrep/dead052
https://doi.org/10.1093/humrep/dead052
Autor:
Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 12, Pp 1-18 (2018)
Abstract The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co‐segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations
Externí odkaz:
https://doaj.org/article/9f89d1aa4ab044b1b23872b473386b2b