Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nina K. Mair"'
Autor:
Nina K. Mair, Benjamin G. Hale
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract The human type I interferon (IFN) system is central to innate immune defense, and is essential to protect individuals against severe viral disease. Consequently, genetic disruption of IFN signaling or effector mechanisms is extremely rare, a
Externí odkaz:
https://doaj.org/article/a3ddbe34b68c4d8e8aaae1874444d665
BackgroundIt is estimated that there are more than 7,000 rare diseases (RDs) worldwide, impacting the lives of approximately 400 million people and only 5% have an approved therapy. Facing special challenges, including patient scarceness, incomplete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b1e3afd36edeae82cb30deb5a091a53
https://doi.org/10.1101/2021.12.03.471055
https://doi.org/10.1101/2021.12.03.471055
Autor:
Kaan Boztug, Ömür Ardeniz, Birgit Hoeger, Nina K. Mair, Rico Chandra Ardy, Johannes B. Huppa, Mirjam van der Burg, Hanna IJspeert, Ferah Genel, Christoph Madritsch, Sevgi Köstel Bal, Bengü Gerçeker, Laurène Pfajfer, Stuart G. Tangye, Ingrid Simonitsch-Klupp, Raul Jimenez-Heredia, Javier Rey-Barroso, Nesrin Gulez, Loïc Dupré, Artem Kalinichenko
Publikováno v:
Journal of Allergy and Clinical Immunology, 142(5), 1589-+. Mosby Inc.
Background: The actin-interacting protein WD repeat–containing protein 1 (WDR1) promotes cofilin-dependent actin filament turnover. Biallelic WDR1 mutations have been identified recently in an immunodeficiency/autoinflammatory syndrome with aberran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f37e327e5c4038edf57fceb110405c
https://pubmed.ncbi.nlm.nih.gov/30189245
https://pubmed.ncbi.nlm.nih.gov/30189245