Case Report
Published on 30 Apr 2019
Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma
in Pediatric Immunology
Frontiers in Pediatrics
doi 10.3389/fped.2019.00160
- 5,190 views
- 11 citations
69 articles related to "Gain Of Function Gof"
Articles
Mini Review
Published on 04 Oct 2021
Recent Advances of WEE1 Inhibitors and Statins in Cancers With p53 Mutations
in Translational Medicine
Frontiers in Medicine
doi 10.3389/fmed.2021.737951
- 15,054 views
- 23 citations
Case Report
Published on 29 Sep 2020
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2020.557521
- 4,490 views
- 14 citations
Case Report
Published on 09 Jul 2025
Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review
in Pediatric Immunology
Frontiers in Pediatrics
doi 10.3389/fped.2025.1577746
- 1,969 views
- 1 citation
Perspective
Published on 30 Apr 2025
Roles of LRRK2 and its orthologs in protecting against neurodegeneration and neurodevelopmental defects
in Signaling
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2025.1569733
- 3,519 views
- 4 citations
Original Research
Published on 25 Nov 2021
Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein
in Molecular Innate Immunity
Frontiers in Immunology
doi 10.3389/fimmu.2021.724361
- 5,067 views
- 9 citations
Original Research
Published on 18 May 2023
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor
in Cellular Neurophysiology
Frontiers in Cellular Neuroscience
doi 10.3389/fncel.2023.1175895
- 9,503 views
- 14 citations
Case Report
Published on 05 Aug 2021
Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation
in Mucosal Immunity
Frontiers in Immunology
doi 10.3389/fimmu.2021.682350
- 4,036 views
- 16 citations
Case Report
Published on 20 Dec 2021
Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2021.760019
- 6,614 views
- 18 citations
Case Report
Published on 11 Oct 2022
Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy
in Pediatric Endocrinology
Frontiers in Pediatrics
doi 10.3389/fped.2022.1001290
- 3,294 views
- 6 citations
Hypothesis and Theory
Published on 04 Mar 2016
Constitutive Negative Regulation of R Proteins in Arabidopsis also via Autophagy Related Pathway?
in Plant Pathogen Interactions
Frontiers in Plant Science
doi 10.3389/fpls.2016.00260
- 7,310 views
- 13 citations
Case Report
Published on 28 Apr 2021
Case Report: Activating PIK3CD Mutation in Patients Presenting With Granulomatosis With Polyangiitis
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2021.670312
- 7,435 views
- 20 citations
Case Report
Published on 20 Mar 2023
Case report: Myocarditis in congenital STAT1 gain-of function
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2023.1095595
- 5,039 views
- 4 citations
Case Report
Published on 04 Jan 2023
Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi–Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2022.1033513
- 4,725 views
- 10 citations
Review
Published on 21 Dec 2015
Targeting Oncogenic Mutant p53 for Cancer Therapy
in Molecular and Cellular Oncology
Frontiers in Oncology
doi 10.3389/fonc.2015.00288
- 76,246 views
- 311 citations
Review
Published on 26 Sep 2018
Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2018.02172
- 18,910 views
- 26 citations