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Abbreviation : GOF
Long Form : gain-of-function
No. Year Title Co-occurring Abbreviation
2020 A gain-of-function mutation in PDR1 of Candida glabrata decreases EPA1 expression and attenuates adherence to epithelial cells through enhancing recruitment of the Mediator subunit Gal11A. ---
2020 A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantu syndrome. CS
2020 A novel NFKBIA variant substituting serine 36 of IkappaBalpha causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia. EDA
2020 Accelerated osteoblastic differentiation in patient-derived dental pulp stem cells carrying a gain-of-function mutation of TRPV4 associated with metatropic dysplasia. MD, NFATc1, TRPV4
2020 Activating mutations of STAT3: Impact on human growth. STAT
2020 Advances in the Pharmacogenomics of Antiplatelet Therapy. ACS, LOF, PCI
2020 Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties. WT
2020 CRISPR-based modular assembly of a UAS-cDNA/ORF plasmid library for more than 5500 Drosophila genes conserved in humans. CRISPRmass, DGRC
2020 Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1). STAT1
10  2020 Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. ---
11  2020 Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study. AEP, ASD
12  2020 Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy. DEE, LOF
13  2020 Enhanced FGFR3 activity in postmitotic principal neurons during brain development results in cortical dysplasia and axonal tract abnormality. FGFR3, FGFRs, FGFs
14  2020 Functional information from clinically-derived drug resistant forms of the Candida glabrata Pdr1 transcription factor. CRD
15  2020 Gain of function mutant p53 protein activates AKT through the Rac1 signaling to promote tumorigenesis. mutp53
16  2020 Gain-of-function mutant p53 in cancer progression and therapy. mutp53
17  2020 Gain-of-Function Mutant p53 R273H Interacts with Replicating DNA and PARP1 in Breast Cancer. MCM, mtp53, PARPi, PDX, TMA, TNBC
18  2020 Gain-of-function mutations in CARD11 promote enhanced aggregation and idiosyncratic signalosome assembly. AgR, DLBCL, IKK
19  2020 Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity. CS, VSM
20  2020 Harnessing the vulnerabilities of p53 mutants in lung cancer - Focusing on the proteasome: a new trick for an old foe? ---
21  2020 High-Throughput RNA Interference Screen Targeting Synthetic-Lethal Gain-of-Function of Oncogenic Mutant TP53 in Triple-Negative Breast Cancer. ---
22  2020 Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. ---
23  2020 Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice. CMC, SI, STAT1
24  2020 Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy. CMC, IFNs
25  2020 Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis. CMC
26  2020 Hyperactive PI3Kdelta predisposes naive T cells to activation via aerobic glycolysis programs. APDS
27  2020 Immunodeficiency and disorders of immune dysregulation. LOF, PIDs
28  2020 Intercellular Sodium Regulates Repolarization in Cardiac Tissue with Sodium Channel Gain of Function. APD, EADs
29  2020 Kir6.1-dependent KATP channels in lymphatic smooth muscle and vessel dysfunction in mice with Kir6.1 gain-of-function. LSM, WT
30  2020 Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype. CMC, PID, STAT1
31  2020 Loss of wild-type p53 promotes mutant p53-driven metastasis through acquisition of survival and tumor-initiating properties. LOH
32  2020 Mendelian diseases of dysregulated canonical NF-kappaB signaling: From immunodeficiency to inflammation. IKK, LOF
33  2020 Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China. IFNs, STAT1, TCR
34  2020 Mutant p53 induces SIRT3/MnSOD axis to moderate ROS production in melanoma cells. MnSOD, ROS, SIRT3
35  2020 Mutant p53-Associated Molecular Mechanisms of ROS Regulation in Cancer Cells. ROS
36  2020 Nicotine Promotes WRL68 Cells Proliferation Due to the Mutant p53 Gain-of-Function by Activating CDK6-p53-RS-PIN1-STAT1 Signaling Pathway. HCC, p53-RS
37  2020 Osmotic Response of Dorsal Root Ganglion Neurons Expressing Wild-Type and Mutant KCC3 Transporters. HSMN/ACC, LOF
38  2020 Ovarian BDNF promotes survival, migration, and attachment of tumor precursors originated from p53 mutant fallopian tube epithelial cells. BDNF, FTE, HGSOC, LOF, TrkB
39  2020 PIK3CA and p53 Mutations Promote 4NQO-Initated Head and Neck Tumor Progression and Metastasis in Mice. GEMM, HNSCC, LSL, OSCC
40  2020 Potential oncogenic roles of mutant-p53-derived exosomes in the tumor-host interaction of head and neck cancers. HNC, HPV, TME
41  2020 Progress on genome-wide CRISPR/Cas9 screening for functional genes and regulatory elements. LOF
42  2020 Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy. AP, KNa
43  2020 Rethinking Gain-of-Function Experiments in the Context of the COVID-19 Pandemic. PPP
44  2020 Role of androgen receptor splice variant-7 (AR-V7) in prostate cancer resistance to 2nd-generation androgen receptor signaling inhibitors. ABI, AR-V7, ARSi, ENZA, PDXs
45  2020 Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation. ---
46  2020 Spectrum of TP53 Mutations in BRCA1/2 Associated High-Grade Serous Ovarian Cancer. HGSOC, LOF
47  2020 STAT1 gain-of-function and chronic demodicosis. CMC
48  2020 STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone. CRAC, SOCE, STIM1
49  2020 Targeting codon 158 p53-mutant cancers via the induction of p53 acetylation. DBD, NF-B, WT
50  2020 The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations. LOF, STAT3
51  2020 The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. ---
52  2020 The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantu Syndrome. CS, HOHF
53  2020 The pathogenic T387A missense mutation in the gene encoding signal transducer and activator of transcription 1 exhibits a differential gene expression profile. CMC
54  2020 Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome. DS, EBV-B, GAF, Hsa21, IFN, IFNR, STAT1
55  2020 TP53 Gain-of-Function Mutations in Circulating Tumor DNA in Men With Metastatic Castration-Resistant Prostate Cancer. ctDNA
56  2020 Transcriptional profiling reveals a subset of human breast tumors that retain wt TP53 but display mutant p53-associated features. BC, mut, WT
57  2020 [Chronic mucocutaneous candidiasis with STAT1 gain-of-function mutation associated with herpes virus and mycobacterial infections]. CMC
58  2019 A dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies. DNE
59  2019 A Gain-of-Function p53-Mutant Oncogene Promotes Cell Fate Plasticity and Myeloid Leukemia through the Pluripotency Factor FOXH1. AML, CK-AML, HSPC
60  2019 A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report. EBV, GOF PIK3CD, SLE
61  2019 A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. aPL, APS, OXPHOS, SKS, WES
62  2019 A role for KCC3 in maintaining cell volume of peripheral nerve fibers. HMSN/ACC, LOF
63  2019 Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. PI3K
64  2019 Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity. NK, PI3K
65  2019 Altered donor P2X7 activity in human leukocytes correlates with P2RX7 genotype but does not affect the development of graft-versus-host disease in humanised mice. GVHD, hIFN-gamma, LOF, NK, SNPs
66  2019 Approaching the challenges of MKK3/p38delta MAPK targeting for therapeutic purpose in colorectal cancer. 5-FU, CRC, mutp53
67  2019 Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency. DMARDs, PIDs, RAG
68  2019 Autism and developmental disability caused by KCNQ3 gain-of-function variants. ASD, DNVs, EEG, NDD
69  2019 Autophagy Regulated by Gain of Function Mutant p53 Enhances Proteasomal Inhibitor-Mediated Cell Death through Induction of ROS and ERK in Lung Cancer Cells. 5-FU, CQ, WT
70  2019 CAF hierarchy driven by pancreatic cancer cell p53-status creates a pro-metastatic and chemoresistant environment via perlecan. CAFs
71  2019 Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review. STAT3
72  2019 CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs. LOF, STIM1, TAM
73  2019 Diverse and cancer type‑specific roles of the p53 R248Q gain‑of‑function mutation in cancer migration and invasiveness. ---
74  2019 Dominant-negative p53 mutant R248Q increases the motile and invasive activities of oral squamous cell carcinoma cells. DN, OSCC
75  2019 Dysregulated microRNAs in colorectal carcinogenesis: New insight to cell survival and apoptosis regulation. CRC, LOF, miRNAs
76  2019 Effects of the MDM-2 inhibitor Nutlin-3a on PDAC cells containing and lacking WT-TP53 on sensitivity to chemotherapy, signal transduction inhibitors and nutraceuticals. PDAC, WT
77  2019 Enhanced Bone Marrow Homing of Natural Killer Cells Following mRNA Transfection With Gain-of-Function Variant CXCR4R334X. BM, CXCR4, NK, SDF-1alpha
78  2019 Evidence that Ergosterol Biosynthesis Modulates Activity of the Pdr1 Transcription Factor in Candida glabrata. ---
79  2019 EZH2 cooperates with gain-of-function p53 mutants to promote cancer growth and metastasis. IRES, RIP-seq
80  2019 Gain-Of-Function E76K-Mutant SHP2 Promotes Cell Proliferation, Metastasis, And Tumor Growth In Glioblastoma Through Activation Of The ERK/CREB Pathway. ERK/CREB, GBM, SHP2
81  2019 Gain-of-Function Genetic Models to Study FSH Action. FSH
82  2019 Gain-of-Function Mutant p53: All the Roads Lead to Tumorigenesis. ---
83  2019 Gain-of-Function Mutations: An Emerging Advantage for Cancer Biology. LOF
84  2019 Gain-of-function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta-analysis. BED, CI, LOF, MC4R, OR
85  2019 Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation. CID, GVHD, HSCT, IFN-gamma, IL-17, STAT1
86  2019 Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. HPVs, JRRP
87  2019 Human TH9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition. LOF, pSTAT, STAT, STAT3
88  2019 Hyperactivation of MAPK Signaling Is Deleterious to RAS/RAF-mutant Melanoma. ---
89  2019 Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants. CMC, GAS, IFN-gamma, JAK2, WT
90  2019 Impaired STAT3-Dependent Upregulation of IL2Ralpha in B Cells of a Patient With a STAT1 Gain-of-Function Mutation. CMC
91  2019 In Vivo Pharmacology Models for Cancer Target Research. GEMM, KD, KI, KO, MCT, PDXs
92  2019 Inhibition of PCSK9D374Y/LDLR Protein-Protein Interaction by Computationally Designed T9 Lupin Peptide. ---
93  2019 Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined. ChIP, CMC, IFN
94  2019 It takes a team: a gain-of-function story of p53-R249S. AFB1, HBV, HCC, p53-R249S
95  2019 JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL. SNVs, T-PLL
96  2019 KCNMA1-linked channelopathy. BK, LOF, PNKD, VUS
97  2019 Lung-Enriched Mutations in the p53 Tumor Suppressor: A Paradigm for Tissue-Specific Gain of Oncogenic Function. ---
98  2019 M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration. Myr-Shoc2
99  2019 Missense mutation in CgPDR1 regulator associated with azole-resistant Candida glabrata recovered from Thai oral candidiasis patients. NAC, SDD
100  2019 Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes. EIEE17, LOF, NEDIM