Associated Papers
Integrating Artificial Intelligence and Bioinformatics Methods to Identify Disruptive STAT1 Variants Impacting Protein Stability and Function.
Kamal E et al.
Genes, 2025
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Asano T et al.
Clinical and Experimental Immunology, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
Ono R et al.
Journal of Clinical Immunology, 2023
Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.
Chen X et al.
Journal of Clinical Immunology, 2022
A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.
Ye F et al.
Frontiers in Cellular and Infection Microbiology, 2022
An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.
Das J et al.
Expert Review of Clinical Immunology, 2021
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 2021
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics.
Taft J et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A et al.
Critical Reviews in Clinical Laboratory Sciences, 2018
A Positive Feedback Amplifier Circuit That Regulates Interferon (IFN)-Stimulated Gene Expression and Controls Type I and Type II IFN Responses.
Michalska A et al.
Frontiers in Immunology, 2018
Quantitative specificity of STAT1 and several variants.
Roy B et al.
Nucleic Acids Research, 2017
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R et al.
The Journal of Allergy and Clinical Immunology, 2017
A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.
Ueki M et al.
Clinical Immunology (orlando, Fla.), 2017
Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations.
Rudko AA et al.
Tuberculosis (edinburgh, Scotland), 2015
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al.
Seminars in Immunology, 2014
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.
Sharfe N et al.
The Journal of Allergy and Clinical Immunology, 2014
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.
Hirata O et al.
Haematologica, 2013
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
Tsumura M et al.
Human Mutation, 2012
A novel STAT1 mutation associated with disseminated mycobacterial disease.
Sampaio EP et al.
Journal of Clinical Immunology, 2012
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.
Boisson-Dupuis S et al.
Current Opinion in Immunology, 2012
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L et al.
The Journal of Experimental Medicine, 2011
Novel STAT1 alleles in a patient with impaired resistance to mycobacteria.
Kristensen IA et al.
Journal of Clinical Immunology, 2011
A novel form of human STAT1 deficiency impairing early but not late responses to interferons.
Kong XF et al.
Blood, 2010
A partial form of recessive STAT1 deficiency in humans.
Chapgier A et al.
The Journal of Clinical Investigation, 2009
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S et al.
The Journal of Allergy and Clinical Immunology, 2008
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Filipe-Santos O et al.
Seminars in Immunology, 2006
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
Chapgier A et al.
Plos Genetics, 2006