| 1 |
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. |
--- |
| 2 |
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 |
| 3 |
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 |
| 4 |
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 |
| 5 |
2020 |
Activating mutations of STAT3: Impact on human growth. |
STAT |
| 6 |
2020 |
Advances in the Pharmacogenomics of Antiplatelet Therapy. |
ACS, LOF, PCI |
| 7 |
2020 |
Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties. |
WT |
| 8 |
2020 |
CRISPR-based modular assembly of a UAS-cDNA/ORF plasmid library for more than 5500 Drosophila genes conserved in humans. |
CRISPRmass, DGRC |
| 9 |
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 |
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