Keywords: به دست آوردن عملکرد; Inflammasomes; Gain of function; Knock-in mouse; Autoinflammatory diseases;
مقالات ISI به دست آوردن عملکرد (ترجمه نشده)
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Keywords: به دست آوردن عملکرد; Therapy; STAT1; Gain of function; Treatment; Fungal infection; Immunodeficiency;
Keywords: به دست آوردن عملکرد; ASCVD; atherosclerotic cardiovascular disease; CHD; coronary heart disease; CVD; cardiovascular disease; CYP; cytochrome; EAS; European Atherosclerosis Society; FDA; Food and Drug Administration; FH; Familial hypercholesterolemia; GOF; gain of function; H
Keywords: به دست آوردن عملکرد; ADA; adenosine deaminase; AIRE; autoimmune regulator; AML; acute myeloid leukemia; APECED; autoimmune polyendocrinopathy, candidiasis, and ectodermal dysplasia; APLAID; autoinflammation and PLCγ2-associated antibody deficiency and immune dysregulation; A
Keywords: به دست آوردن عملکرد; Immunology; primary immunodeficiency; nuclear factor κB; autoimmunity; intravenous immunoglobulin; common variable immunodeficiency; severe combined immunodeficiency; newborn screening; gene therapy; ADA; Adenosine deaminase; ADAM; A disintegrin and meta
Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model
Keywords: به دست آوردن عملکرد; GOF; gain of function; PCSK9; proprotein convertase subtilisin/kexin type-9; WT; wild-type; AD; atherogenic diet; MDCT; multidetector computed tomography; LDL-C; low-density lipoprotein cholesterol; ND; normal diet; IVUS; intravascular ultrasound; BOLD-MR
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
Keywords: به دست آوردن عملکرد; Signal transducer and activator of transcription 1, gain of function; natural killer cell deficiency; perforin; Janus kinase inhibition; ruxolitinib; natural killer cell maturation; ADCC; Antibody-dependent cellular cytotoxicity; CCD; Coiled-coil domain;
CRISPLD1 rs12115090 polymorphisms alters antiplatelet potency of clopidogrel in coronary artery disease patients in Chinese Han
Keywords: به دست آوردن عملکرد; CAD; coronary artery disease; ACS; acute coronary syndrome; DAPT; dual antiplatelet therapy; PCI; percutaneous coronary intervention; SNPs; single nucleotide polymorphisms; LD; loading dose; MD; maintain dose; PRI; platelet reaction index; HTPR; high on-t
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function
Keywords: به دست آوردن عملکرد; Signal transducer and activator of transcription 1; gain of function; sumoylation; small ubiquitin-related modifier; IFN-γ; Rhodococcus species infection; CMC; Chronic mucocutaneous candidiasis; GFP; Green fluorescent protein; GOF; Gain of function; IP10
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function
Keywords: به دست آوردن عملکرد; Yeast; ANT1; SLC25A4; AAC2; Mitochondrial diseases; Gain of function;
Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling
Keywords: به دست آوردن عملکرد; aa; amino acid; BWA; Burrows-Wheeler aligner; CaM; calmodulin; CPR; cardiopulmonary resuscitation; DNA; deoxyribonucleic acid; ECG; electrocardiogram; GOF; gain of function; KCNE1; potassium voltage-gated channel subfamily E member 1; Kv7.1; voltage-gated
ReviewAlpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions
Keywords: به دست آوردن عملکرد; Alpha-1-antitrypsin; Liver disease; COPD; Serine-protease inhibitor; Panniculitis; Vasculitis; Gain of function; Loss of function;
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
Keywords: به دست آوردن عملکرد; Activated phosphoinositide 3-kinase δ syndrome; p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency; phosphoinositide 3-kinase δ; PIK3CD gene; bronchiectasis; immunodeficiency; hematopoietic stem cell transplanta
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
Keywords: به دست آوردن عملکرد; STAT1 gain of function; IFN-γ; ruxolitinib; autoimmunity; TH1 cell; TH17 cell; follicular T helper cell; T helper cell polarization; ATG; Anti-thymocyte globulin; BSA; Body surface area; GOF; Gain of function; IC50; Half-maximal inhibitory concentration
Exome and genome sequencing for inborn errors of immunity
Keywords: به دست آوردن عملکرد; Next-generation sequencing; whole-exome sequencing; whole-genome sequencing; targeted sequencing; primary immunodeficiency; AD; Autosomal dominant; AF; Allele frequency; AR; Autosomal recessive; CADD; Combined annotation-dependent depletion; CID; Combined
A rare DNA contact mutation in cancer confers p53 gain-of-function and tumor cell survival via TNFAIP8 induction
Keywords: به دست آوردن عملکرد; Mutant p53; Gain of function; Pro-survival; TNFα; Bax; BCL-2 associated X protein; CDKN1A; cyclin-dependent kinase inhibitor 1A; CPT; camptothecin; NF-κB; nuclear factor κB; qRT-PCR; quantitative real time polymerase chain reaction; Tet; tetracycline;
Biomarkers for Wilms Tumor: A Systematic Review
Keywords: به دست آوردن عملکرد; biomarkers; kidney neoplasms; pediatrics; prognosis; Wilms tumor; COG; Children's Oncology Group; GOF; gain of function; LOH; loss of heterozygosity; NWTS; National Wilms Tumor Study; PRISMA; Preferred Reporting Items for Systematic Reviews and Meta-An
Specific and redundant roles of PKBα/AKT1 and PKBβ/AKT2 in human pancreatic islets
Keywords: به دست آوردن عملکرد; (PKB); Protein kinase B; (T2D); type 2 diabetes; (FFA); free fatty acids; (IRS); insulin receptor substrate; (PI3K); phosphoinositide 3-kinase; (mTORC2); mTOR complex 2; (KO); knockout; (INS); rat insulinoma cells; (GOF); gain of function; (GSIS); glucose
Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome
Keywords: به دست آوردن عملکرد; α-MHC; α-myosin heavy chain; AV; atrioventricular; AVERP; AV effective refractory period in AV node; CS; Cantu syndrome; DTG; double transgenic; ECG; electrocardiogram; ERP; effective refractory period; GOF; gain of function; Kir; inward rectifier potas
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity
Keywords: به دست آوردن عملکرد; Primary immunodeficiency; combined immunodeficiency; B-cell lymphoma 10; mucosa-associated lymphoid tissue lymphoma-translocation gene 1; CARMA1; caspase recruitment domain 9; AR; Autosomal recessive; BCL10; B-cell lymphoma 10; BCR; B-cell receptor; CARD;
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
Keywords: به دست آوردن عملکرد; Follicular helper T cells; humoral immunity; primary immunodeficiencies; cytokine signaling; Bcl-6; B-cell lymphoma 6; cTFH; Circulating follicular helper T; DN; Double-negative; DP; Double-positive; GC; Germinal center; GOF; Gain of function; IL-10R; IL-
Atrial Fibrillation and SCN5A Variants
Keywords: به دست آوردن عملکرد; Atrial fibrillation; SCN5A mutations; Electrophysiology; SCN5A; Gain of function; Loss of function; Action potential; “Two-hit” hypothesis;
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
Keywords: به دست آوردن عملکرد; Severe SHM1; Congenital ataxia; Developmental delay; Acetazolamide response; Novel CACNA1A mutation; Gain of function;
Mutant p53 gain of function can be at the root of dedifferentiation of human osteosarcoma MG63 cells into 3AB-OS cancer stem cells
Keywords: به دست آوردن عملکرد; CSCs; Cancer stem cells; FISH; Fluorescent in situ hybridization; GOF; Gain of function; MMPs; Matrix metalloproteinases; Mutp53; Mutant p53; OS; Osteosarcoma; Human osteosarcoma; Cancer stem cells; Mutant p53 gain of function; Cancer cell dedifferentiati
p53 at the crossroads between cancer and neurodegeneration
Keywords: به دست آوردن عملکرد; p53; Alzheimer disease; Cancer; Conformational alteration; Gain of function; Oxidative stress; Free radicals;
p53 mutants induce transcription of NF-κB2 in H1299 cells through CBP and STAT binding on the NF-κB2 promoter and gain of function activity
Keywords: به دست آوردن عملکرد; Mutant p53; Gain of function; Transactivation
Overcoming the heterologous bias: An in vivo functional analysis of multidrug efflux transporter, CgCdr1p in matched pair clinical isolates of Candida glabrata
Keywords: به دست آوردن عملکرد; Candida glabrata; CgCDR1; Multidrug resistance; Clinical isolates; ABC; ATP binding cassette; MF; major facilitator; AR; azole resistant; AS; azole sensitive; NR; Nile Red; GOF; gain of function;
A novel mechanism for LQT3 with 2:1 block: A pore-lining mutation in Nav1.5 significantly affects voltage-dependence of activation
Keywords: به دست آوردن عملکرد; Cardiac Sodium Channel; LQT3; V411M; Flecainide; Mexiletine; Lidocaine; WT; wild-type; LQTS; Long QT Syndrome; AP; action potential; ECG; electrocardiogram; GOF; gain of function; HEK; human embryonic kidney; TdP; torsades de pointes;
Somatic mutations in PI3Kα: Structural basis for enzyme activation and drug design
Keywords: به دست آوردن عملکرد; PI3K; p110/p85; Somatic mutation; Gain of function; H1047R mutant;
CARD14 Gain-of-Function Mutation Alone Is Sufficient to Drive IL-23/IL-17-Mediated Psoriasiform Skin Inflammation In Vivo
Keywords: به دست آوردن عملکرد; CARMA; CARD/MAGUK domain; GoF; gain of function; PRP; pityriasis rubra pilaris; Th; T helper; WT; wild type;
p53 mutation heterogeneity in cancer
Keywords: به دست آوردن عملکرد; TP53 tumor suppressor gene mutations; Oncogene; Gain of function; Apoptosis;
Expression cloning screening of a unique and full-length set of cDNA clones is an efficient method for identifying genes involved in Xenopus neurogenesis
Keywords: به دست آوردن عملکرد; Gain of function; Screen; Xenopus; Neurogenesis; Rab32; XER81; Frizzled 10B; Cullin1;