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The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

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Year: 2020
Type: article
Source: Journal of Clinical Immunology
DOI: 10.1007/s10875-020-00770-1
Authors: Kunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, Sanem E. Akarcan, Necil Kutukculer, Guzide Aksu, Yoji Sasahara, Shigeo Kure, Hidenori Ohnishi, Jean-Laurent Casanova, Anne Puel, Toshiyuki Fukao
Institutions: Inserm, Tohoku University, Université Paris Cité, Human Genetic of Infectious Diseases, Institut des Maladies Génétiques Imagine, Gifu University, Ege University, Hôpital Necker-Enfants Malades, Howard Hughes Medical Institute, Rockefeller University
Language: English

Topic: Immunodeficiency and Autoimmune Disorders
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Agence Nationale de la Recherche, Ministry of Education, Culture, Sports, Science and Technology, Ministry of Health, Labour and Welfare, Japan Society for the Promotion of Science
Awards: G5479279339, Responsible genes and molecular pathogenesis of JIA, The protein structure determination of IL-36 related molecules and their clinical application., G7122846103, Novel treatment strategies for autosomal dominant chronic mucocutaneous candidiasis, G869689488
OpenAlex ID: W3011656777
FWCI: 0.072
Cites: 17
Cited by: 3
Related to: 10
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