Keywords: مرتب کردن غیر قابل تحمل از تحمل; DCM; dilated cardiomyopathy; SIFT; Sorting Intolerant from Tolerant; CADD; Combined Annotation Depletion Dependent; GWAS; genome wide association studies; NGS; Next Generation DNA sequencing; ExAC; Exome Aggregation Consortium; SNV; Single Nucleotide Vari
مقالات ISI مرتب کردن غیر قابل تحمل از تحمل (ترجمه نشده)
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Keywords: مرتب کردن غیر قابل تحمل از تحمل; IBD; Inflammatory Bowel Disease; IL10; Interlukin-10; NOD2; Nucleotide Binding Oligomerization Domain Containinig 2; ATG16L1; Autophagy related 16 Like 1; IL23R; Interlukin 23 Receptor; IL10R; Interlukin 10 Receptor; XIAP; X-linked Inhibitor of Apoptosis;
Keywords: مرتب کردن غیر قابل تحمل از تحمل; Oxysterols; Cancer; Polymorphism; Risk; Genetics; Cholesterol; 25(OH)D; 25-hydroxyvitamin D; ABC; ATP-binding cassette; AEBS; antiestrogen-binding site; BC; breast cancer; BCR; biochemical recurrence; CETP; cholesteryl ester transfer protein; CH25H; chole
Keywords: مرتب کردن غیر قابل تحمل از تحمل; CS; Currarino Syndrome; MNX1; Motor Neuron and Pancreas Homeobox; Mb; Megabase; SNV; single nucleotide variant; ETV3L; ETS Variant 3 Like; ARID5A; AT-rich interactive domain-containing protein 5A; NCAPD3; non-SMC condensin II complex subunit D3; ARM; Anor
Keywords: مرتب کردن غیر قابل تحمل از تحمل; HCM; hypertrophic cardiomyopathy; DCM; dilatative cardiomyopathy; RCM; restrictive cardiomyopathy; ARVC; arrhythmogenic right ventricular cardiomyopathy; NGS; next generation sequencing; NsSNV; non-synonymous single nucleotide variant; ECG; electrocardiog
Keywords: مرتب کردن غیر قابل تحمل از تحمل; RP; retinitis pigmentosa; WES; whole-exome sequencing; USH1; Usher type 1; USH2; Usher type 2; USH3; Usher type 3; USH2A; Usher type 2A; VEP; visual evoked potential; ERG; electroretinogram; DNA; deoxyribonucleic acid; GATK; Genome Analysis Toolkit; SNSs;
Keywords: مرتب کردن غیر قابل تحمل از تحمل; arCC; autosomal recessive congenital cataract; bp; base pair; CC; congenital cataract; NGS; next-generation DNA sequencing; SIFT; Sorting Intolerant from Tolerant; SNP; single nucleotide polymorphism;
A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family
Keywords: مرتب کردن غیر قابل تحمل از تحمل; CADD; Combined annotation dependent depletion; CC; Congenital cataract; CRYGS; crystallin gamma S; DAPI; 4â²,6-diamidino-2-phenylindole; ECL; Enhanced chemiluminescence; FATHMM; Functional analysis through Hidden Markov models; LOD; Logarithm of the odds
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia
Keywords: مرتب کردن غیر قابل تحمل از تحمل; CDA; congenital dyserythropoietic anaemias; PolyPhen; Polymorphism Phenotyping v2; SIFT; Sorting Intolerant From Tolerant; MAF; minor allele frequency; Provean; Protein Variation Effect Analyzer; ExAC; Exome Aggregation Consortium; SNP; single nucleotide
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients
Keywords: مرتب کردن غیر قابل تحمل از تحمل; Fructose-1,6-bisphosphatase; FBPase deficiency; FBP1 gene mutation; FBPase; fructose-1,6-bisphosphatase; HGMD; Human Gene Mutation Database; Polyphen; Polymorphism Phenotyping; SIFT; Sorting Intolerant From Tolerant; ExAC; Exome Aggregation Consortium;
Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India
Keywords: مرتب کردن غیر قابل تحمل از تحمل; ARMS; amplification-refractory mutation system; BER; base excision repair; CI; confidence interval; DDG; Gibbs free energy change; HWE; Hardy-Weinberg equilibrium; HMM; Hidden Markov Model; NCBI; National Centre for Biological Information; NHEJ; non-hom
Computational analysis of non-synonymous single nucleotide polymorphism in the bovine cattle kappa-casein (CSN3) gene
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SNP; single nucleotide polymorphism; SIFT; Sorting Intolerant From Tolerant; PolyPhen; phenotype polymorphism; nsSNP; nonsynonymous single nucleotide polymorphism; MUSTER; MUlti-Sources ThreadER; NCBI; National Centre for Biological Information; PROVEAN;
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients
Keywords: مرتب کردن غیر قابل تحمل از تحمل; α; alpha; bp; base pair(s); β; beta; cDNA; DNA complementary to RNA; dNTP; deoxyribonucleoside triphosphate; γ; gamma; GERP; Genomic Evolutionary Rate Profiling; GNPTAB; gene encoding the alpha/beta subunit of the N-acetylglucosamine-1-phosphotransfera
The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease
Keywords: مرتب کردن غیر قابل تحمل از تحمل; AF; autofluorescence; CS; choriocapillaris and Sattler's layer; ffERG; full-field electroretinogram; NIR-AF; near-infrared autofluorescence; qAF; quantitative autofluorescence; ROC; rapid-onset chorioretinopathy; RPE; retinal pigment epithelium; SIFT; Sor
A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients
Keywords: مرتب کردن غیر قابل تحمل از تحمل; PD; Parkinson's disease; GBA; glucocerebrosidase gene; PolyPhen-2; polymorphism phenotyping v2; dbSNP 142; single nucleotide polymorphism database 142; ExAC; Exome Aggregation Consortium database; L-DOPA; L-3,4-dihydroxyphenylalanine; SIFT; Sorting Into
Computational analysis of deleterious SNPs of SLC45A2 involved in oculocutaneous albinism type 4
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SNP; Single nucleotide polymorphism; SLC45A2; Solute carrier family 45, member 2; OCA4; Oculocutaneous albinism Type 4; nsSNP; Non-synonymous single nucleotide polymorphism; OA; Ocular albinism; TYR; Tyrosinase; TYRP1; Tyrosinase related protein 1; MATP;
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene
Keywords: مرتب کردن غیر قابل تحمل از تحمل; ADPKD; Autosomal Dominant Polycystic Kidney Disease; ESRD; end-stage renal disease; Leucine-rich LRR; leucine rich repeat; WSC; cell wall integrity and stress response component; LDL-A; low density lipoprotein-A; IG-Like; immunoglobulin-like; REJ; recepto
Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer
Keywords: مرتب کردن غیر قابل تحمل از تحمل; AAS; Amino Acid Substitution; BAM; Binary Alignment Map; BER; Base Excision Repair; CI; Confidence Interval; CVC; Cross Validation Consistency; dbSNP; Single Nucleotide Polymorphism database; DDG; The predicted free energy change value; DSBR; Double Stran
Computational analysis of nsSNPs of NPHS1 gene and their effect on protein structural stability
Keywords: مرتب کردن غیر قابل تحمل از تحمل; NPHS1; nephrosis-1-congenital, finish type; SNP; single nucleotide polymorphisms; SIFT; sorting intolerant from tolerant; PROVEAN; protein variation effect ANalyzer; nsSNP; non-synonymous single nucleotide polymorphism; PYMOL; project molecular and cellul
Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in the human Quinone Oxidoreductase 1 (NQO1)
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SNP; Single nucleotide polymorphisms; nsSNPs; Non-synonymous SNPs; NQO1; NAD(P)H Quinone Oxidoreductase 1; SIFT; Sorting Intolerant from Tolerant; PolyPhen; phenotype polymorphism; ROVEAN; Protein Variation Effect Analyzer; PDB; Protein Data Bank; GDT; gl
Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population
Keywords: مرتب کردن غیر قابل تحمل از تحمل; AFDS; Amish Family Diabetes Study; CPE; carboxypeptidase E; ExAC; Exome Aggregation Consortium; ESP; Exome Sequencing Project; GERP; genomic evolutionary rate profiling; IGT; impaired glucose tolerance; MAF; minor allele frequency; NGT; normal glucose tol
Genetic variants of the DNA repair genes from Exome Aggregation Consortium (EXAC) database: significance in cancer
Keywords: مرتب کردن غیر قابل تحمل از تحمل; AP; Apurinic/Apyrimidinic; BER; Base excision repair; dbSNP; Single Nucleotide Polymorphism database; DNA; Deoxyribonucleic acid; DSB; Double-strand break; ExAC; Exome Aggregation Consortium; FA; ;Fanconi Anemia; GGR; Global Genomic Repair; GWAS; Genome W
Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene
Keywords: مرتب کردن غیر قابل تحمل از تحمل; In silico analysis; Human MTHFD1 gene polymorphism; Single nucleotide polymorphisms; Folate metabolism; MTHFD15; 10-methylenetetrahydrofolate dehydrogenase 1; SIFT; sorting intolerant from tolerant; SNPs&GO; single nucleotide polymorphisms and gene ontolo
Novel PDE10A transcript diversity in the human striatum: Insights into gene complexity, conservation and regulation
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SNP; single nucleotide polymorphism; cAMP; cyclic adenosine monophosphate; cGMP; cyclic guanosine monophosphate; MSN; medium spiny neurons; HC; healthy control; BD; bipolar disorder; RLM-RACE; RNA ligase mediated rapid amplification of cDNA ends; IRB; ins
Classification and structural analyses of mutational landscapes in hemochromatosis factor E protein: A protein defective in the hereditary hemochromatosis
Keywords: مرتب کردن غیر قابل تحمل از تحمل; HH; hereditary hemochromatosis; HFE; Hereditary Hemochromatosis Factor E; MHC; major histocompatibility complex; RMSD; Root Mean Square Deviations; Rg; Radius of Gyration; RMSF; Root Mean Square Fluctuations; SASA; Solvent Accessible Surface Area; SVM; Su
Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease
Keywords: مرتب کردن غیر قابل تحمل از تحمل; PD; Parkinson's disease; AD; Alzheimer's disease; TREM2; the triggering receptor expressed on myeloid cells 2 gene; VPS35; the vacuolar protein sorting 35 gene; EIF4G1; the eukaryotic translation initiation factor 4-gamma 1 gene; S100B; the S100 calci
Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan
Keywords: مرتب کردن غیر قابل تحمل از تحمل; HaloPlex; Johanson-Blizzard syndrome; Next generation sequencing; Trypsin; Ubiquitin-protein ligase E3 component n-recognin 1; bp; base pair; CP; chronic pancreatitis; JBS; Johanson-Blizzard syndrome; NGS; next generation sequencing; PCR; polymerase chain
ARHGAP4 mutated in a Chinese intellectually challenged family
Keywords: مرتب کردن غیر قابل تحمل از تحمل; XLMR; X-linked mental retardation; EEG; Electroencephalogram; MRI; Magnetic resonance imaging; PHA; Phytohemagglutinin; LM-PCR; Ligation-mediated polymerase chain reaction; SNPs; Single nucleotide polymorphisms; InDels; Insertions or deletions; BWA; Burro
In silico analysis of nsSNPs in human methyl CpG binding protein 2
Keywords: مرتب کردن غیر قابل تحمل از تحمل; MECP2; methyl CpG binding protein 2; SNP; single nucleotide polymorphism; SIFT; sorting intolerant from tolerant; PolyPhen; phenotype polymorphism; nsSNP; non synonymous single nucleotide polymorphism; OMIM; online Mendelian inheritance in man; MUSTER; mu
Exome and genome sequencing for inborn errors of immunity
Keywords: مرتب کردن غیر قابل تحمل از تحمل; 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
Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients
Keywords: مرتب کردن غیر قابل تحمل از تحمل; PD; Parkinson's disease; MAPT; the microtubule-associated protein tau gene; GBA; the glucocerebrosidase gene; SMPD1; the sphingomyelin phosphodiesterase 1, âacid lysosomal gene; MTHFR; the methylenetetrahydrofolate reductase gene; dbSNP; database of s
Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1
Keywords: مرتب کردن غیر قابل تحمل از تحمل; 9#3â3#1; Rad9-Hus1-Rad1; araFA; 9-(2-deoxy-2-fluoro-β-d-arabinofuranosyl) adenine; AST; active site titration; bp; base-pair; BER; base excision repair; CRC; colorectal cancer; ds; double-stranded; Ec; Escherichia coli; EMSA; electrophoretic mobili
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis
Keywords: مرتب کردن غیر قابل تحمل از تحمل; CHD; congenital heart defects; PS; pulmonary valve stenosis; polyphen2; polymorphism phenotyping; SIFT; Sorting Intolerant From Tolerant; dbSNP; Single Nucleotide Polymorphism Database; ASD; atrial septal defect; VSD; ventricular septal defect; TOF; tetra
Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries
Keywords: مرتب کردن غیر قابل تحمل از تحمل; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; MLPA; Multiplex Ligation-dependent Probe Amplification; SIFT; Sorting Intolerant From Tolerant; PolyPhen; Polymorphism Phenotyping; Panther; Protein ANalysis THrough Evolutionary Relationsh
Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum
Keywords: مرتب کردن غیر قابل تحمل از تحمل; ASD; atrial septal defect; AVSD; atrioventricular septal defect; CHD; congenital heart defect; Cx43; connexin 43; EVS; exome variant server; FISH; fluorescent in situ hybridization; GJA1; gap junction alpha 1 gene; GJPA1; gap junction alpha 1 pseudogene;
DR-GAS: A database of functional genetic variants and their phosphorylation states in human DNA repair systems
Keywords: مرتب کردن غیر قابل تحمل از تحمل; GAS; Haplotype; nsSNP; LD; Phosphorylation; BER; base excision repair; NER; nucleotide excision repair; MMR; mismatch repair; HRR; homologous recombination repair; NHEJ; non-homologous end joining; TLS; trans lesion synthesis; DDS; DNA damage signaling; H
Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene
Keywords: مرتب کردن غیر قابل تحمل از تحمل; IGE; Idiopathic generalized epilepsy; CNS; Central nervous system; SNPs; Single nucleotide polymorphisms; nsSNPs; Non synonymous single nucleotide polymorphisms; NCBI; National Centre for Biotechnology Information; SIFT; Sorting intolerant from tolerant;
A Novel Dyskerin (DKC1) Mutation Is Associated With Familial Interstitial Pneumonia
Keywords: مرتب کردن غیر قابل تحمل از تحمل; AEC; alveolar epithelial cell; DC; dyskeratosis congenita; FIP; familial interstitial pneumonia; HRCT; high-resolution CT; ILD; interstitial lung disease; IPF; idiopathic pulmonary fibrosis; PBMC; peripheral blood mononuclear cell; PCR; polymerase chain r
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis
Keywords: مرتب کردن غیر قابل تحمل از تحمل; LREIM; Laboratory of Inborn Errors of Metabolism; HCPA; Hospital de ClÃnicas de Porto Alegre; DNA; Deoxyribonucleic acid; SSCP; Single-stranded conformational polymorphism; PAGE; Polyacrilamide gel electrophoresis; SIFT; Sorting Intolerant from tolerant;
Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
Keywords: مرتب کردن غیر قابل تحمل از تحمل; CB; curvilinear body; DBS; dried blood spot; FP; fingerprint profile; GROD; granular osmiophilic deposit; J-NCL; juvenile NCL; LD; lysosomal disorder; LI-NCL; late-infantile NCL; NCLs; neuronal ceroid lipofuscinoses; PDB; protein data bank; PolyPhen-2; po
Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings
Keywords: مرتب کردن غیر قابل تحمل از تحمل; A; adenosine; Ala; alanine; Arg; arginine; AROA; autosomal recessive ocular albinism; Asn; asparagine; C; cytidine; CSIR; Council of Scientific and Industrial Research; Câterminal; carboxy terminal; Cys; cysteine; DCT; DOPAchrome tautomerase; db SNP; Th
Single nucleotide polymorphisms in genes that are common targets of luteotropin and luteolysin in primate corpus luteum: Computational exploration
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SNP; single nucleotide polymorphism; CL; corpus luteum; PG; prostaglandin; LH; luteinizing hormone; SCARB1; scavenger receptor class B type I; SCD; stearoyl-CoA desaturase; MOCOS; molybdenum cofactor sulfurase; CYP11A1; cytochrome P450, family 11, subfami
In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SIFT; Sorting Intolerant from Tolerant; Polyphen; Phenotype Polymorphism; CFC; Cardio-Facio-Cutaneous; SNP; Single Nucleotide Polymorphism; nsSNP; Nonsynonymous Polymorphism; OMIM; Online Mendelian Inheritance in Man; ANOLEA; Atomic Non-Local Environment
Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload
Keywords: مرتب کردن غیر قابل تحمل از تحمل; Hyperferritinemia; Non-HFE Hemochromatosis; Bioinformatics; SLC11A3; FPN-GFP; ferroportin/green fluorescent protein; PolyPhen; Polymorphism Phenotyping; SIFT; Sorting Intolerant From Tolerant;
Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SNP; non-synonymous; dbSNP; phenotypic effects; BER; base excision repair; BLAST; Basic Local Alignment Search Tool; cSNP; coding single nucleotide polymorphism (SNP in protein-coding region); dbSNP; public database of human single nucleotide polymorphism
Prediction of the deleterious nsSNPs in ABCB transporters
Keywords: مرتب کردن غیر قابل تحمل از تحمل; SNP; single nucleotide polymorphism; nsSNPs; non-synonymous SNPs; ABCB; ATP-binding cassette B; RPLS; ridge partial least square; LDA; linear discriminant analysis; 3D; 3-dimensional; SIFT; sorting intolerant from tolerant; ÎÎG; relative stability chang