Keywords: ژنهای اصلاح کننده; Human knockouts; Muscle gene mutations; Muscular dystrophies; Modifier genes;
مقالات ISI ژنهای اصلاح کننده (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: ژنهای اصلاح کننده; Induced pluripotent stem cells; Arrhythmias; Long QT syndrome; Precision medicine; Modifier genes; Heart disease;
Keywords: ژنهای اصلاح کننده; Gaucher disease; Enzyme replacement therapy; Autopsy reports; Modifier genes
Keywords: ژنهای اصلاح کننده; Huntington disease; Modifier genes; Candidate genes; Genome-wide association studies; Phenotype;
Keywords: ژنهای اصلاح کننده; Penetrance; Expressivity; Copy number variations; Modifier genes; Epigenetics; Environmental factors; Oligogenic inheritance; Digenic inheritance
Keywords: ژنهای اصلاح کننده; Cystic fibrosis; CFTR; Lung; Physiopathology; Modifier genes;
FAM13A is a modifier gene of cystic fibrosis lung phenotype regulating rhoa activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition
Keywords: ژنهای اصلاح کننده; CF; Cystic fibrosis; FAM13A; Family with sequence similarity 13 member A; COPD; Chronic obstructive pulmonary diseases; CFTR; CF transmembrane conductance regulator; GAP; GTPase activating protein; VEGAS; Versatile Gene Based Association Study; EMT; epith
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2
Keywords: ژنهای اصلاح کننده; Age at onset; Maximal Saccade Velocity; Modifier genes; Omega class glutathione-S-transferases; Spinocerebellar ataxia type 2;
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
Keywords: ژنهای اصلاح کننده; Pancreatitis; Cystic fibrosis; CFTR; Modifier genes; Bicarbonate; Next Generation Sequencing;
Genetic mutations strengthen functional association of LAP1 with DYT1 dystonia and muscular dystrophy
Keywords: ژنهای اصلاح کننده; Lamina associated polypeptide 1; Nuclear envelope; Protein phosphatase 1; PP1; Modifier genes; Torsin A; Emerin
The influence of clinical and genetic factors on left ventricular wall thickness in Ragdoll cats
Keywords: ژنهای اصلاح کننده; Cardiomyopathy; Genetics; Modifier genes; Breed screening;
Genetic modifier loci of mouse Mfrprd6 identified by quantitative trait locus analysis
Keywords: ژنهای اصلاح کننده; eye disease; retinal degeneration; MFRP; QTL analysis; modifier genes
Cytokine gene polymorphisms and severity of CF lung disease
Keywords: ژنهای اصلاح کننده; Cystic fibrosis; Modifier genes; Single nucleotide polymorphism; Cytokine genotype
Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice
Keywords: ژنهای اصلاح کننده; Seizures; Epilepsy; Mouse model; Voltage-gated sodium channel; Electrophysiology; Modifier genes;
Experimental researchCNR1 variation is associated with the age at onset in Huntington disease
Keywords: ژنهای اصلاح کننده; Huntington disease; Modifier genes; Age at onset; CNR1; miRNAs;
Heat shock protein 70 polymorphism in hypertrophic cardiomyopathy of South Indian cohort
Keywords: ژنهای اصلاح کننده; Hypertrophy decompensation; Single nucleotide polymorphism (SNP); Modifier genes; Molecular chaperones;
Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients
Keywords: ژنهای اصلاح کننده; Cystic fibrosis; 8.1 Ancestral Haplotype; Modifier genes; Lung function
DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome
Keywords: ژنهای اصلاح کننده; Lynch syndrome; DNA repair polymorphisms; Modifier genes; SNPs
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings
Keywords: ژنهای اصلاح کننده; Spinal muscular atrophy (SMA); Plastin 3 (PLS3); Discordant siblings; Modifier genes
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
Keywords: ژنهای اصلاح کننده; Aminoglycoside ototoxicity; Mitochondrial 12S rRNA; Mutation; Deafness; Modifier genes; Haplogroup; Variants; Molecular epidemiology; Prevention
A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: A follow-up study
Keywords: ژنهای اصلاح کننده; Hemochromatosis; Penetrance of the p.C282Y/p.C282Y genotype; Modifier genes
Hepatobiliary disease in cystic fibrosis
Keywords: ژنهای اصلاح کننده; bile acids; biliary cirrhosis; CFTR; children; Cystic Fibrosis; liver; modifier genes
Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
Keywords: ژنهای اصلاح کننده; Leber’s hereditary optic neuropathy; Mitochondrial DNA; Mutation; Penetrance; Modifier genes; Chinese
Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met
Keywords: ژنهای اصلاح کننده; Familial amyloidotic neuropathy; Transthyretin; TTR Val30Met; Modifier genes;
The flux-summation theorem and the ‘evolution of dominance’
Keywords: ژنهای اصلاح کننده; Metabolic control analysis; Flux-summation theorem; Control coefficient; Phenotypic robustness; Dominance; Modifier genes
A review of the role of enhanced apoptosis in the pathophysiology of cystinosis
Keywords: ژنهای اصلاح کننده; Cystinosis; Apoptosis; Cysteinylation; PKC δ; Swan neck deformity; Atubular glomeruli; Modifier genes; Cystinosis variants
Searching for hemostatic modifier genes affecting the phenotype of mice with very low levels of FVII
Keywords: ژنهای اصلاح کننده; Factor VII; Modifier genes; Strain differences; SNPs; Quantitative traits; Hemostasis;
The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes
Keywords: ژنهای اصلاح کننده; Cystic fibrosis; Osteoporosis; Modifier genes
GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation
Keywords: ژنهای اصلاح کننده; Hereditary nonpolyposis colorectal cancer (HNPCC); Modifier genes; Glutathione-S-transferases (GSTT1, GSTM1)
The mannan-binding lectin pathway and lung disease in cystic fibrosis—dysfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier
Keywords: ژنهای اصلاح کننده; Complement activation; Cystic fibrosis; MBL-associated serine proteases; Mannan-binding lectin; Spirometry; Modifier genes
Hepatocellular carcinoma as a complex polygenic disease. Interpretive analysis of recent developments on genetic predisposition
Keywords: ژنهای اصلاح کننده; Hepatocarcinogenesis; Genetic predisposition; Quantitative trait loci; Modifier genes; Polygenic disease; Redifferentiation
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy
Keywords: ژنهای اصلاح کننده; LHON; ND4 G11778A mutation; Halpotype; Mitochondrial genome; Visual loss; mtDNA mutation; Modifier genes; Chinese;
Epistasis and the genetics of human diseases
Keywords: ژنهای اصلاح کننده; Epistasis; Modifier genes; Genetic diseases; Genomics; Founder's effect;
Modifier genes play a significant role in the phenotypic expression of PKD11
Keywords: ژنهای اصلاح کننده; polycystic kidney disease; modifier genes; PKD1 mutations; genetic background;
On the evolution of epistasis I: diploids under selection
Keywords: ژنهای اصلاح کننده; Modifier genes; Genetic Interactions; Modularity; Evolvability; Linkage and selection;