Search Results - "Gain of Function Mutation"

A rare CALR exon 9 mutation p.E379Vfs*53 in AYA generation exhibits gain-of-function nature and can induce essential thrombocythemia; a case report.

Authors: Nagaharu K Ono R Nakano E et al.

Source: Hematology (Amsterdam, Netherlands) [Hematology] 2025 Dec; Vol. 30 (1), pp. 2513190. Date of Electronic Publication: 2025 Jun 05.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE

MeSH Terms: Thrombocythemia, Essential*/genetics , Thrombocythemia, Essential*/diagnosis , Calreticulin*/genetics , Exons* , Gain of Function Mutation* , Mutation*, Humans ; Female ; Adult

A dual-action liposome-peptide formulation synergistically counteracts a gain-of-function p53 mutant.

Authors: Ghosh Chaudhary S Bhowmick S Bhattacharya S et al.

Source: Journal of liposome research [J Liposome Res] 2025 Dec; Vol. 35 (4), pp. 490-502. Date of Electronic Publication: 2025 Sep 18.

Publication Type: Journal Article

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9001952 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2394 (Electronic) Linking ISSN: 08982104 NLM ISO Abbreviation: J Liposome Res Subsets: MEDLINE

MeSH Terms: Liposomes*/chemistry , Tumor Suppressor Protein p53*/genetics , Tumor Suppressor Protein p53*/metabolism , Peptides*/chemistry , Peptides*/pharmacology , Gain of Function Mutation*/drug effects , Antineoplastic Agents*/pharmacology , Antineoplastic Agents*/chemistry, Humans ; Doxorubicin/pharmacology ; Doxorubicin/chemistry ; Cell Line, Tumor ; Cell Proliferation/drug effects

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.

Authors: Blanco-Lobo P Gilabert-Prieto P de Felipe B et al.

Source: Journal of clinical immunology [J Clin Immunol] 2025 Nov 25; Vol. 45 (1), pp. 167. Date of Electronic Publication: 2025 Nov 25.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

MeSH Terms: Down Syndrome*/drug therapy , Down Syndrome*/genetics , Down Syndrome*/immunology , Down Syndrome*/diagnosis , Down Syndrome*/complications , STAT1 Transcription Factor*/genetics , STAT1 Transcription Factor*/metabolism , Gain of Function Mutation* , Janus Kinase Inhibitors*/therapeutic use, Humans ; Nitriles ; Female ; Male ; Pyrimidines ; Pyrazoles/therapeutic use ; Cytokines/blood ; Biomarkers

Gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia.

Authors: Liang L Wang S Huang S et al.

Source: The British journal of dermatology [Br J Dermatol] 2025 Nov 18; Vol. 193 (6), pp. 1182-1191.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

MeSH Terms: Gain of Function Mutation*/genetics , NADP Transhydrogenases*/genetics , NADP Transhydrogenases*/metabolism , Sebaceous Gland Diseases*/genetics , Sebaceous Gland Diseases*/pathology , Sebaceous Glands*/pathology , Sebaceous Glands*/ultrastructure, Adult ; Female ; Humans ; Male ; Middle Aged ; Exome Sequencing ; Hyperplasia/genetics ; Hyperplasia/pathology ; Lipid Peroxidation/genetics ; Mutation, Missense ; Pedigree ; Reactive Oxygen Species/metabolism

PIEZO1 gain-of-function mutation drives cardiomyopathy by disrupting myocardial lipid homeostasis besides iron overload.

Authors: Fan C Du H Sun S et al.

Source: Science advances [Sci Adv] 2025 Nov 14; Vol. 11 (46), pp. eady9242. Date of Electronic Publication: 2025 Nov 14.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

MeSH Terms: Iron Overload*/metabolism , Iron Overload*/genetics , Iron Overload*/pathology , Cardiomyopathies*/genetics , Cardiomyopathies*/metabolism , Cardiomyopathies*/pathology , Ion Channels*/genetics , Ion Channels*/metabolism , Lipid Metabolism*/genetics , Gain of Function Mutation* , Myocardium*/metabolism , Myocardium*/pathology , Homeostasis*, Animals ; Humans ; Mice ; Male ; Myocytes, Cardiac/metabolism ; Calcium/metabolism ; Adult ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/metabolism ; Forkhead Box Protein O3/metabolism ; Forkhead Box Protein O3/genetics ; Iron/metabolism

FGFR3 gain-of-function delays intramembranous bone healing in a mouse calvarial fracture model.

Authors: Bian H Fujio M Matsushita M et al.

Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2025 Nov 08; Vol. 788, pp. 152799. Date of Electronic Publication: 2025 Oct 13.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

MeSH Terms: Receptor, Fibroblast Growth Factor, Type 3*/genetics , Receptor, Fibroblast Growth Factor, Type 3*/metabolism , Fracture Healing*/genetics , Gain of Function Mutation* , Skull Fractures*/pathology , Skull Fractures*/genetics , Skull Fractures*/metabolism , Skull Fractures*/diagnostic imaging , Skull Fractures*/physiopathology, Animals ; Mice, Transgenic ; Mice ; Disease Models, Animal ; Osteogenesis/genetics ; Osteoblasts/metabolism ; Osteoblasts/pathology ; Skull/pathology ; Skull/injuries ; X-Ray Microtomography ; Osteoclasts/metabolism ; Osteoclasts/pathology

The chordoid glioma PRKCA D463H mutation is a kinase inactive, gain-of-function allele that induces early-onset chondrosarcoma in mice.

Authors: Calleja V Henry JC Cobbaut M et al.

Source: Science signaling [Sci Signal] 2025 Nov 04; Vol. 18 (911), pp. eadr0235. Date of Electronic Publication: 2025 Nov 04.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101465400 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-9145 (Electronic) Linking ISSN: 19450877 NLM ISO Abbreviation: Sci Signal Subsets: MEDLINE

MeSH Terms: Protein Kinase C-alpha*/genetics , Protein Kinase C-alpha*/metabolism , Chondrosarcoma*/genetics , Chondrosarcoma*/pathology , Chondrosarcoma*/metabolism , Gain of Function Mutation* , Glioma*/genetics , Glioma*/pathology , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology, Animals ; Mice ; Humans ; Alleles ; Cell Line, Tumor ; Gene Expression Regulation, Neoplastic ; Mutation ; Gene Knock-In Techniques

Penetrant PKCβ mutation in ATLL displays a mixed gain-of-function.

Authors: Brown SJ Briggs DC Costello P et al.

Source: The Biochemical journal [Biochem J] 2025 Nov 04; Vol. 482 (21).

Publication Type: Journal Article

Journal Info: Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

MeSH Terms: Protein Kinase C beta*/genetics , Protein Kinase C beta*/metabolism , Protein Kinase C beta*/antagonists & inhibitors , Protein Kinase C beta*/chemistry , Gain of Function Mutation* , Mutation, Missense*, Animals ; Mice ; Humans ; Gene Knock-In Techniques

High-throughput characterization of 5886 HER2 variants identifies 112 new in cellulo gain-of-function mutations.

Authors: Giacoletto CJ Valente LJ Brown L et al.

Source: Genomics [Genomics] 2025 Nov; Vol. 117 (6), pp. 111118. Date of Electronic Publication: 2025 Oct 02.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1089-8646 (Electronic) Linking ISSN: 08887543 NLM ISO Abbreviation: Genomics Subsets: MEDLINE

MeSH Terms: Receptor, ErbB-2*/genetics , Receptor, ErbB-2*/chemistry , Receptor, ErbB-2*/metabolism , Breast Neoplasms*/genetics , Breast Neoplasms*/mortality , Gain of Function Mutation*, Humans ; Female ; Mutation, Missense ; Cell Line, Tumor

Differential modulation of polycystin-2 gain-of-function channels by cysteine-reactive compounds, amphiphilic substances, and S4-S5 linker mutations.

Authors: Geiges L Staudner T Khamseekaew J et al.

Source: The Journal of biological chemistry [J Biol Chem] 2025 Nov; Vol. 301 (11), pp. 110766. Date of Electronic Publication: 2025 Sep 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

MeSH Terms: Cysteine*/metabolism , Cysteine*/chemistry , Cysteine*/genetics , TRPP Cation Channels*/genetics , TRPP Cation Channels*/metabolism , TRPP Cation Channels*/chemistry , Gain of Function Mutation*, Animals ; Xenopus laevis ; Humans ; Oocytes/metabolism ; Polycystic Kidney, Autosomal Dominant/genetics ; Polycystic Kidney, Autosomal Dominant/metabolism ; Mutagenesis, Site-Directed ; Ion Channel Gating/drug effects

Gain-of-function PPM1D mutations attenuate ischemic stroke.

Authors: He W Li Y Fan J et al.

Source: Cell death and differentiation [Cell Death Differ] 2025 Nov; Vol. 32 (11), pp. 2146-2159. Date of Electronic Publication: 2025 May 21.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9437445 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5403 (Electronic) Linking ISSN: 13509047 NLM ISO Abbreviation: Cell Death Differ Subsets: MEDLINE

MeSH Terms: Protein Phosphatase 2C*/genetics , Protein Phosphatase 2C*/metabolism , Ischemic Stroke*/genetics , Ischemic Stroke*/pathology , Ischemic Stroke*/metabolism , Gain of Function Mutation*/genetics , Brain Ischemia*/genetics , Stroke*/genetics, Animals ; Humans ; Mice ; Male ; Mice, Knockout ; Mice, Inbred C57BL ; Female

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.

Authors: Sjøstrøm E Studniarczyk D Dou X et al.

Source: Clinical genetics [Clin Genet] 2025 Nov; Vol. 108 (5), pp. 553-565. Date of Electronic Publication: 2025 May 20.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

MeSH Terms: Receptors, AMPA*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Gain of Function Mutation*/genetics , Genetic Predisposition to Disease*, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Adult ; Phenotype

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.

Authors: Yaakoubi R Mekki N Ben Chehida A et al.

Source: Frontiers in immunology [Front Immunol] 2025 Oct 03; Vol. 16, pp. 1646761. Date of Electronic Publication: 2025 Oct 03 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

MeSH Terms: STAT3 Transcription Factor*/genetics , STAT1 Transcription Factor*/genetics , Gain of Function Mutation* , Job Syndrome*/genetics , Job Syndrome*/diagnosis, Humans ; Female ; Adolescent ; Phenotype

PI3K GOF leads to dysregulation of T and B cells that both contribute to extrinsically driving activation and differentiation of other CD4 ⁺ T cells.

Authors: Bier J Lau A Jackson KJ et al.

Source: Immunology and cell biology [Immunol Cell Biol] 2025 Oct; Vol. 103 (9), pp. 884-896. Date of Electronic Publication: 2025 Sep 14.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8706300 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1711 (Electronic) Linking ISSN: 08189641 NLM ISO Abbreviation: Immunol Cell Biol Subsets: MEDLINE

MeSH Terms: Lymphocyte Activation*/immunology , B-Lymphocytes*/immunology , Class I Phosphatidylinositol 3-Kinases*/genetics , Class I Phosphatidylinositol 3-Kinases*/metabolism , CD4-Positive T-Lymphocytes*/immunology , Cell Differentiation*/immunology , Gain of Function Mutation* , Primary Immunodeficiency Diseases*/immunology , Primary Immunodeficiency Diseases*/genetics , Phosphatidylinositol 3-Kinases*/metabolism , Phosphatidylinositol 3-Kinases*/genetics, Animals ; Mice ; Mice, Inbred C57BL ; Humans ; Disease Models, Animal

SCR Disease Name: Activated PI3K-delta Syndrome

Molecular Characteristics and Treatment Implications of TP53 Gain-of-Function Mutations in Non-Small Cell Lung Cancer.

Authors: Zhao Z Lu R Zhang F et al.

Source: Cancer medicine [Cancer Med] 2025 Oct; Vol. 14 (20), pp. e71215.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print Cited Medium: Internet ISSN: 2045-7634 (Electronic) Linking ISSN: 20457634 NLM ISO Abbreviation: Cancer Med Subsets: MEDLINE

MeSH Terms: Carcinoma, Non-Small-Cell Lung*/genetics , Carcinoma, Non-Small-Cell Lung*/drug therapy , Carcinoma, Non-Small-Cell Lung*/pathology , Carcinoma, Non-Small-Cell Lung*/mortality , Carcinoma, Non-Small-Cell Lung*/immunology , Lung Neoplasms*/genetics , Lung Neoplasms*/drug therapy , Lung Neoplasms*/pathology , Lung Neoplasms*/mortality , Lung Neoplasms*/immunology , Lung Neoplasms*/therapy , Tumor Suppressor Protein p53*/genetics , Gain of Function Mutation*, Humans ; Male ; Female ; Middle Aged ; Aged ; Protein Kinase Inhibitors/therapeutic use ; Immunotherapy ; Biomarkers, Tumor/genetics ; Adult ; Protein-Tyrosine Kinases ; Proto-Oncogene Proteins

BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review.

Authors: Baldini L Keller B Dewitte L et al.

Source: Immunology letters [Immunol Lett] 2025 Oct; Vol. 275, pp. 107005. Date of Electronic Publication: 2025 Mar 27.

Publication Type: Journal Article; Case Reports; Systematic Review

Journal Info: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7910006 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0542 (Electronic) Linking ISSN: 01652478 NLM ISO Abbreviation: Immunol Lett Subsets: MEDLINE

MeSH Terms: CARD Signaling Adaptor Proteins*/genetics , CARD Signaling Adaptor Proteins*/metabolism , Guanylate Cyclase*/genetics , Guanylate Cyclase*/metabolism , Gain of Function Mutation*, Humans ; Male ; Female ; NF-kappa B/metabolism ; Phenotype ; HEK293 Cells ; B-Lymphocytes/immunology ; Signal Transduction ; Genetic Predisposition to Disease ; Mutation

[Clinical features and immunotherapy for children with loss-of-function/gain-of-function mutations in the STAT gene: an analysis of 10 cases].

Authors: Li HW Wang YH Wu SZ et al.

Source: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2025 Aug 15; Vol. 27 (8), pp. 951-958.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN: 1008-8830 (Print) Linking ISSN: 10088830 NLM ISO Abbreviation: Zhongguo Dang Dai Er Ke Za Zhi Subsets: MEDLINE

MeSH Terms: Immunotherapy* , Gain of Function Mutation* , Loss of Function Mutation* , STAT Transcription Factors*/genetics, Humans ; Male ; Female ; Child, Preschool ; Child ; Retrospective Studies ; Infant

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.

Authors: Xiang Y Sun S Wang H et al.

Source: Journal of clinical immunology [J Clin Immunol] 2025 Sep 30; Vol. 45 (1), pp. 137. Date of Electronic Publication: 2025 Sep 30.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

MeSH Terms: Candidiasis, Chronic Mucocutaneous*/genetics , Candidiasis, Chronic Mucocutaneous*/diagnosis , Candidiasis, Chronic Mucocutaneous*/drug therapy , Gain of Function Mutation* , STAT1 Transcription Factor*/genetics, Child ; Humans ; Cytokines/blood ; Exome Sequencing ; Genetic Predisposition to Disease ; Mutation, Missense ; Nitriles ; Pyrazoles/therapeutic use ; Pyrimidines

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.

Authors: Badonyi M Marsh JA

Source: Nature communications [Nat Commun] 2025 Sep 25; Vol. 16 (1), pp. 8392. Date of Electronic Publication: 2025 Sep 25.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

MeSH Terms: Loss of Function Mutation*/genetics , Gain of Function Mutation*/genetics , Genetic Diseases, Inborn*/genetics , Genes, Dominant*, Humans ; Phenotype ; Mutation, Missense ; Prevalence

Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome.

Authors: Christensen AH Pan G Marvig RL et al.

Source: European heart journal [Eur Heart J] 2025 Sep 15; Vol. 46 (35), pp. 3486-3497.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE

MeSH Terms: Gain of Function Mutation*/genetics , Arrhythmias, Cardiac*/genetics , Enhancer Elements, Genetic*/genetics, Humans ; Female ; Male ; Pedigree ; Adult ; Electrocardiography ; Middle Aged ; Genetic Linkage ; Whole Genome Sequencing ; Phenotype