Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Barthélémy Caron"'
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
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-22 (2019)
Abstract State-of-the-art methods assessing pathogenic non-coding variants have mostly been characterized on common disease-associated polymorphisms, yet with modest accuracy and strong positional biases. In this study, we curated 737 high-confidence
Externí odkaz:
https://doaj.org/article/9819455bdf514633ba92e7373db84f54
Autor:
Andrei Zinovyev, Laurence Calzone, Aurélien Naldi, Aurelien Dugourd, Eric Viara, Guido Kroemer, Gautier Stoll, Barthélémy Caron, Emmanuel Barillot
Publikováno v:
Bioinformatics (Oxford, England). 33(14)
Motivation Modeling of signaling pathways is an important step towards the understanding and the treatment of diseases such as cancers, HIV or auto-immune diseases. MaBoSS is a software that allows to simulate populations of cells and to model stocha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e643ee5f68f007e9c9c37e704e675b
https://pubmed.ncbi.nlm.nih.gov/28881959
https://pubmed.ncbi.nlm.nih.gov/28881959
Autor:
Barthelemy Caron, Etienne Patin, Maxime Rotival, Bruno Charbit, Matthew L. Albert, Lluis Quintana-Murci, Darragh Duffy, Antonio Rausell, the Milieu Intérieur Consortium
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-15 (2022)
Abstract Background Blood plasma proteins play an important role in immune defense against pathogens, including cytokine signaling, the complement system, and the acute-phase response. Recent large-scale studies have reported genetic (i.e., protein q
Externí odkaz:
https://doaj.org/article/7c9e5740025b48e0ae85e264cb6f82e0