Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome

Autor: Filippo Consonni, Solange Moreno, Blanca Vinuales Colell, Marie-Claude Stolzenberg, Alicia Fernandes, Mélanie Parisot, Cécile Masson, Nathalie Neveux, Jérémie Rosain, Sarah Bamberger, Marie-Gabrielle Vigue, Marion Malphettes, Pierre Quartier, Capucine Picard, Frédéric Rieux-Laucat, Aude Magerus

Publikováno v: Cell Death and Disease, Vol 15, Iss 5, Pp 1-8 (2024)

Abstract Autoimmune lymphoproliferative syndrome (ALPS) is a primary disorder of lymphocyte homeostasis, leading to chronic lymphoproliferation, autoimmune cytopenia, and increased risk of lymphoma. The genetic landscape of ALPS includes mutations in

Externí odkaz: https://doaj.org/article/5165021b955642a8b654e38c4a24da9d

Prediction of Critical Aircraft Performance Model Parameters from Historical Flight Data

Autor: Alicia Fernandes, Dan Wesely, Tejas G. Puranik, Aida Sharif Rohani, Krishna M. Kalyanam, Drew Morin

Publikováno v: AIAA SCITECH 2023 Forum.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e30c0d082be790d3f7652aacb38adec2
https://doi.org/10.2514/6.2023-2532

Explicit Contingency Planning For Improved Human-Autonomy Teaming In Decision Support

Autor: Chris Brinton, Alicia Fernandes, Curt Kaler

Publikováno v: 2020 Integrated Communications Navigation and Surveillance Conference (ICNS).

As the National Airspace System (NAS) evolves into a more automated system, it will be essential that human operators can effectively team with their automated Decision Support Systems (DSSs) to manage the performance of the system. When automated sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f9a299923f24fdaf6645e251637a4379
https://doi.org/10.1109/icns50378.2020.9222923

Applying Cognitive Engineering Principles to Allocation of Roles and Responsibilities for a Future Air Traffic Management Concept

Autor: Kenneth Leiden, Alan Bell, Todd Kilbourne, Stephen Atkins, Michael R. C. Jackson, Mark Evans, Alicia Fernandes, James Kirk, Timothy Bagnall

Publikováno v: Proceedings of the Human Factors and Ergonomics Society Annual Meeting. 62:24-28

NASA’s Management by Trajectory (MBT) concept will improve trajectory predictability by providing methods to keep aircraft on negotiated trajectories; however, the concept impacts roles and responsibilities. Most notably, MBT envisions a different

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::44237c0ba1206b0747922952915f5672
https://doi.org/10.1177/1541931218621006

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome

Autor: Nicolas Pottier, Ibrahima Ba, Maname Benyelles, Emmanuelle Ollivier, Patrick Revy, Laetitia Kermasson, Elodie Lainey, Cécile Fourrage, Alicia Fernandes, Raphael Borie, Marie-Françoise O'Donohue, Caroline Kannengiesser, Chantal Lagresle-Peyrou, Hilario Nunes, Anne-Sophie Gamez, Bruno Crestani, Denis Caillaud, Fanny Morice-Picard, Jean-Pierre de Villartay, Isabelle Callebaut, Christelle Ménard, Clarisse Cazelles, Ambroise Marçais, Pierre-Emmanuel Gleizes

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2020, ⟨10.1093/hmg/ddaa011⟩
Human Molecular Genetics, Oxford University Press (OUP), 2020, 29 (6), pp.907-922. ⟨10.1093/hmg/ddaa011⟩
Human Molecular Genetics, 2020, ⟨10.1093/hmg/ddaa011⟩

Telomeres are nucleoprotein structures at the end of chromosomes. The telomerase complex, constituted of the catalytic subunit TERT, the RNA matrix hTR and several cofactors, including the H/ACA box ribonucleoproteins Dyskerin, NOP10, GAR1, NAF1 and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71a9599c63ffa27494e55f4339109d3b
https://pubmed.ncbi.nlm.nih.gov/31985013