Associated Papers
Severe Impairment of IFN-α and IFN-γ Responses in Cells of a Patient with a Rare STAT1 Tail Segment Domain Mutation.
Xiao J et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Integrating Artificial Intelligence and Bioinformatics Methods to Identify Disruptive STAT1 Variants Impacting Protein Stability and Function.
Kamal E et al.
Genes, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
A novel loss-of-function variant in STAT1 causes Mendelian susceptibility to mycobacterial disease.
Lv K et al.
Frontiers in Cellular and Infection Microbiology, 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
PhosVarDeep: deep-learning based prediction of phospho-variants using sequence information.
Liu X et al.
Peerj, 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
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
Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation.
Erdős M et al.
Frontiers in Immunology, 2020
The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics.
Taft J et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.
Sampaio EP et al.
The Journal of Allergy and Clinical Immunology, 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
Human Cytomegalovirus Utilizes a Nontraditional Signal Transducer and Activator of Transcription 1 Activation Cascade via Signaling through Epidermal Growth Factor Receptor and Integrins To Efficiently Promote the Motility, Differentiation, and Polarization of Infected Monocytes.
Collins-McMillen D et al.
Journal of Virology, 2017
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
PhosphoPICK-SNP: quantifying the effect of amino acid variants on protein phosphorylation.
Patrick R et al.
Bioinformatics (oxford, England), 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
Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.
Kumar N et al.
The Journal of Allergy and Clinical Immunology, 2014
Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.
Ramirez-Alejo N et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2014
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.
Mizoguchi Y et al.
Journal of Leukocyte Biology, 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
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP et al.
The Journal of Allergy and Clinical Immunology, 2013
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Kong XF et al.
Human Molecular Genetics, 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
Functional STAT3 deficiency compromises the generation of human T follicular helper cells.
Ma CS et al.
Blood, 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
Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.
Qu HQ et al.
International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
Chapgier A et al.
Plos Genetics, 2006
Autosomal-dominant primary immunodeficiencies.
Lawrence T et al.
Current Opinion in Hematology, 2005
Normal expression of IFN-gammaR in four patients with uncommon mycobacterial infection phenotypes.
Rugeles MT et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
Dupuis S et al.
Nature Genetics, 2003
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
Döffinger R et al.
Molecular Immunology, 2002
Host susceptibility factors in mycobacterial infection. Genetics and body morphotype.
Guide SV et al.
Infectious Disease Clinics of North America, 2002