Keywords: از دست دادن عملکرد; Redundancy; Knockout; Loss of function; Primary infection; Inborn error of immunity; Natural selection;
مقالات ISI از دست دادن عملکرد (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: از دست دادن عملکرد; ACMG; American College of Medical Genetics and Genomics; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram; ExAC; Exome Aggregation Consortium; HCM; hypertrophic cardiomyopathy; INDEL; insertion/deletion; LOF; loss of fun
Keywords: از دست دادن 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: از دست دادن عملکرد; Aβ; β-Amyloid peptide; Aβ40; 40-amino acid isoform of β-Amyloid peptide; Aβ42; 42-amino acid isoform of β-Amyloid peptide; Aβ42/Aβ40; ratio of measured steady-state levels of Aβ42 and Aβ40; AD; Alzheimer's Disease; AICD; APP intracellular domain
Keywords: از دست دادن عملکرد; loss of function; autozygome; evolution; druggable targets; adaptation;
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
Keywords: از دست دادن عملکرد; DCC; Axon guidance disorder; Mirror movements; Variant interpretation; Loss of function;
Frequency of Somatic TP53 Mutations in Combination with Known Pathogenic Mutations in Colon Adenocarcinoma, Non-Small Cell Lung Carcinoma, and Gliomas as Identified by Next-Generation Sequencing
Keywords: از دست دادن عملکرد; NSCLC; Non-small cell lung carcinoma; NGS; Next Generation Sequencing; LOF; Loss of Function; IARC; International Agency for Research of Cancer; FFPE; Formalin-Fixed, Paraffin-Embedded; H&E; Hematoxylin and Eosin;
Comparison of genetic profiles among primary lung tumor, metastatic lymph nodes and circulating tumor DNA in treatment-naïve advanced non-squamous non-small cell lung cancer patients
Keywords: از دست دادن عملکرد; AF; allelic fractions; ctDNA; circulating tumor DNA; cfDNA; circulating cell-free DNA; CNV; copy number variation; LOF; loss of function; maxAF; maximal AF; NGS; next-generation sequencing; NSCLC; non-small cell lung cancer; PFS; progression-free survival
Autosomal Recessive Hypercholesterolemia
Keywords: از دست دادن عملکرد; atherosclerotic cardiovascular disease; autosomal recessive hypercholesterolemia; follow-up; lipid-lowering therapies; retrospective analysis; ARH; autosomal recessive hypercholesterolemia; ASCVD; atherosclerotic coronary vascular disease; CHD; coronary
C679X loss-of-function PCSK9 variant lowers fasting glucose levels in a black South African population: A longitudinal study
Keywords: از دست دادن عملکرد; PCSK9; Type 2 diabetes; LDL-C; Loss of function; A443T; C679X; Black South African population;
Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans
Keywords: از دست دادن عملکرد; AD; atopic dermatitis; CI; confidence interval; LoF; loss of function; MPS; massively parallel sequencing; MVF; minor variant frequency; PEER; Pediatric Eczema Elective Registry;
A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations
Keywords: از دست دادن عملکرد; FHL1; Myopathy; Loss of function; Zebrafish; FHL1-opathy;
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function
Keywords: از دست دادن 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
ReviewAlpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions
Keywords: از دست دادن عملکرد; Alpha-1-antitrypsin; Liver disease; COPD; Serine-protease inhibitor; Panniculitis; Vasculitis; Gain of function; Loss of function;
Achieving neuroprotection with LRRK2 kinase inhibitors in Parkinson disease
Keywords: از دست دادن عملکرد; COR; C-terminal of Ras; CSF; cerebral spinal fluid; DAT-1; dopamine transporter-1; ERK5; extracellular-signal-regulated kinase 5; ExAC; Exome Aggregation Consortium; GTPase; Guanosine Triphosphate Hydrolase; LoF; loss of function; LRRK2; leucine-rich repe
Full Length ArticleAssessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses
Keywords: از دست دادن عملکرد; HME; hereditary multiple exostoses; MO; multiple osteochondromas; EXT1; exostosin glycosyltransferase 1; EXT2; exostosin glycosyltransferase 2; ExAC; Exome Aggregation Consortium; MOdb; Multiple Osteochondromas database; LoF; loss of function; pLI; probab
Exome and genome sequencing for inborn errors of immunity
Keywords: از دست دادن 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
How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'
Keywords: از دست دادن عملکرد; Athletic performance; Common human polymorphism; Molecular mechanism; Protein interactions; α-Actinin-3 deficiency; Muscle function; 2D; two-dimensional; ALP; actinin-associated LIM protein; ATP; adenosine triphosphate; BHAD; 3-hydroxyacyl-CoA dehydrogen
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
Keywords: از دست دادن عملکرد; TBK1; Frontotemporal dementia (FTD); Amyotrophic lateral sclerosis (ALS); Frontotemporal lobar degeneration (FTLD); Optineurin; Loss of function;
Specific and redundant roles of PKBα/AKT1 and PKBβ/AKT2 in human pancreatic islets
Keywords: از دست دادن 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
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
Keywords: از دست دادن عملکرد; Loeys-Dietz syndrome; gene; TGF-β pathway; thoracic aortic aneurysm; LAP; latency-associated peptide; LDS; Loeys-Dietz syndrome; LOF; loss of function; MFS; Marfan syndrome; MIM; Mendelian Inheritance in Man; SNP; single nucleotide polymorphism; TAAD; t
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
Keywords: از دست دادن 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-
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Keywords: از دست دادن عملکرد; V(D)J recombination; nonhomologous end-joining; DNA repair; ARTEMIS deficiency; DCLRE1C mutations; severe combined immunodeficiency; A-MuLV; Abelson murine leukemia virus; ExAC; Exome Aggregation Consortium; GFP; Green fluorescent protein; IR; Ionizing ra
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy
Keywords: از دست دادن عملکرد; Nemaline myopathy; ACTA1; Deletion; Dominant negative; Loss of function;
Atrial Fibrillation and SCN5A Variants
Keywords: از دست دادن عملکرد; Atrial fibrillation; SCN5A mutations; Electrophysiology; SCN5A; Gain of function; Loss of function; Action potential; “Two-hit” hypothesis;
Three epilepsy-associated GABRG2 missense mutations at the γ +/β â interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents
Keywords: از دست دادن عملکرد; GABAA receptors; Genetic generalized epilepsy; GABRG2(N79S) mutation; GABRG2(R82Q) mutation; GABRG2(P83S) mutation; Loss of function; Dominant negative effects; Subunit interface; Impaired receptor assembly;
Local requirement of the Drosophila insulin binding protein imp-L2 in coordinating developmental progression with nutritional conditions
Keywords: از دست دادن عملکرد; AED; after egg deposition; CC; corpora cardiac; Dilp; Drosophila insulin-like peptide; IGF; insulin-like growth factors; IGFBP; insulin-like growth factor binding proteins; IIS; insulin/insulin-like growth factor signaling; Imp-L2; Imaginal morphogenesis
Tumor Suppressors Status in Cancer Cell Line Encyclopedia
Keywords: از دست دادن عملکرد; Tumor suppressor; Cancer cell line; CCLE; Loss of function; DNA methylation; Epigenetics
Phospholamban mutants compete with wild type for SERCA binding in living cells
Keywords: از دست دادن عملکرد; CFP; cyan fluorescent protein; FRET; fluorescence resonance energy transfer; Kd; dissociation constant; LOF; loss of function; PKA; protein kinase A; PLB; phospholamban; PLBM; PLB mutant; SDS; sodium dodecyl-sulfate; SERCA; sarco-endoplasmic reticulum Ca2
Longevity and aging, genetic and post-genetic mechanisms. Which target to choose for postponing and treating age-related diseases
Keywords: از دست دادن عملکرد; Longevity; Aging; Loss of function; Age-diseases; Sirtuins; Atherosclerosis; Aging of elastin
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through
Keywords: از دست دادن عملکرد; GABAA receptors; Dravet syndrome; Generalized epilepsy; γ2 subunit; GABRG2(Q40X) mutation; Loss of function; Gentamicin;
Functional and physical competition between phospholamban and its mutants provides insight into the molecular mechanism of gene therapy for heart failure
Keywords: از دست دادن عملکرد; Ca2+; divalent calcium ion; Dabcyl-SE; 4-((4-(dimethylamino)phenyl)azo)-benzoic acid succinimidyl ester; Fmoc; 9-fluorenylmethyloxycarbonyl; FRET; fluorescence resonance energy transfer; IAEDANS; 5-((((2-iodoacetyl)amino)ethyl)amino) naphthalene-1-sulfoni
A novel functional element in the N-terminal region of Arum concinnatum alternative oxidase is indispensable for catalytic activity of the enzyme in HeLa cells
Keywords: از دست دادن عملکرد; Alternative oxidase; Arum lily; Thermogenesis; Inactive isoform; N-terminus; Loss of function
Plasma PCSK9 levels correlate with cholesterol in men but not in women
Keywords: از دست دادن عملکرد; Plasma PCSK9; Loss of function; Hypocholesterolemia; Hypercholesterolemia; Single nucleotide polymorphisms;
Rett syndrome from a family perspective: The Swedish Rett Center survey
Keywords: از دست دادن عملکرد; Autonomic dysfunction; Foot deformities; Loss of function; Motor development; Physiotherapy; Posture; Regain function; Scoliosis;