MDA5 gain-of-function associated with a Glu794del mutation.

Autor: Wong, Callie, Gerasimavicius, Lukas, Crow, Yanick J., Uggenti, Carolina, Carmichael, Jenny, Lees, Hayley, Rice, Gillian I, Sutherland, Fraser JH, Marsh, Joseph A

Publikováno v: Journal of Clinical Immunology; 2025, Vol. 45 Issue 1, p1-4, 4p

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure: implications for variant effect prediction

Autor: Gerasimavicius, Lukas

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MDA5 gain-of-function associated with a Glu794del mutation.

Autor: Wong C; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Gerasimavicius L; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. yanickcrow@mac.com.; Laboratory of Neurogenetics and Neuroinflammation, Institute Imagine, Paris, France. yanickcrow@mac.com., Uggenti C; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Oct 02; Vol. 45 (1), pp. 20. Date of Electronic Publication: 2024 Oct 02.