Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression-Reference-Cited by-同舟云学术

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Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression

Published:2018-08-20 Issue:1 Volume:3 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genomic Med

Author:

Ovadia Adi,Sharfe Nigel,Hawkins Cynthia,Laughlin Suzanne,Roifman Chaim M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/s41525-018-0063-6.pdf

Reference10 articles.

1. García-Sastre, A. & Biron, C. A. Type 1 interferons and the virus-host relationship: a lesson in détente. Science 312, 879–882 (2006).

2. Liu, L. et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J. Exp. Med. 208, 1635–1648 (2011).

3. van de Veerdonk, F. L. et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N. Engl. J. Med. 365, 54–61 (2011).

4. Nahum, A. & Dalal, I. Clinical manifestations associated with novel mutations in the coiled-coil domain of STAT1. LymphoSign J. 1, 97–103 (2014).

5. Toubiana, J. et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood 127, 3154–3164 (2016).

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1. Dysregulated STAT1 gain-of-function: Pathogen-free autoimmunity and fungal infection;hLife;2024-08

2. Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background;Frontiers in Immunology;2024-07-24

3. Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research;Immunological Reviews;2023-12-12

4. JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences;Journal of Clinical Immunology;2023-05-04

5. Systems Immunology Analyses of STAT1 Gain-of-Function Immune Phenotypes Reveal Heterogeneous Response to IL-6 and Broad Immunometabolic Roles for STAT1;ImmunoHorizons;2022-07-01

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