The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
Keywords: جهش سومی; Aneuploidy; Genome; Mosaicism; Somatic mutation; CNS; CNV
مقالات ISI جهش سومی (ترجمه نشده)
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An approach to finding brain-situated mutations in sporadic Parkinson's disease
Keywords: جهش سومی; Parkinson's disease; Copy number variant; Somatic mutation; Genome-wide microarrayCNV, copy number variant; DGV, Toronto Database of Genomic Variants; PD, Parkinson's disease; PDBRCNV, PD brain CNV not found in control brains
Somatic mtDNA mutations in lung tissues of pesticide-exposed fruit growers
Keywords: جهش سومی; Pesticides; Multiple-exposures; Reactive oxygen species; mtDNA; Somatic mutation;
Stochastic modulations of the pace and patterns of ageing: Impacts on quasi-stochastic distributions of multiple geriatric pathologies
Keywords: جهش سومی; Somatic mutation; Epigenetic drift; Stochastic events; Evolutionary biology; Mitochondria; Geriatric pathology
Targeting EGFR in non-small-cell lung cancer: Lessons, experiences, strategies
Keywords: جهش سومی; Lung cancer; Tyrosine kinase; Somatic mutation; Drug responsiveness
Direct mutation analysis by high-throughput sequencing: From germline to low-abundant, somatic variants
Keywords: جهش سومی; Massively parallel sequencing; Somatic mutation; Germ line mutation; Low-abundance mutations; Whole genome sequencing; Mosaicism; Aging; Cancer;
Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis
Keywords: جهش سومی; Amyotrophic lateral sclerosis; Copy number; Microarray; Motor neuron disease; Somatic mutation; Twins
BRAFV600E detection in melanoma is highly improved by COLD-PCR
Keywords: جهش سومی; FFPE; formalin fixed paraffin embedded; COLD-PCR; co-amplification at lower denaturation temperature-PCR; HRMA; high resolution melting analysis; Tm; melting temperature; Tc; critical denaturation temperature; COLD-PCR; Somatic mutation; BRAFV600E; Melano
A bioinformatics pipeline to build a knowledge database for in silico antibody engineering
Keywords: جهش سومی; Germline; Hypermutation; Somatic mutation; Position specific scoring matrix; Knowledge database; Antibody engineering; Algorithm; Java; Bioinformatics; Web; CDR-IMGT
On the intrinsic inevitability of cancer: From foetal to fatal attraction
Keywords: جهش سومی; Tumorigenesis; Tumour progression; Epigenetic landscape; Gene regulatory network; Attractor; State space; Somatic mutation; Oncogene
The genetics of breast cancer
Keywords: جهش سومی; Autosomal dominant; breast cancer; cancer genetics; genetic testing; germline mutation; magnetic resonance imaging; mammography; ovarian cancer; risk assessment; screening; somatic mutation; tumour suppressor gene
Somatic mutations in mitochondrial genome and their potential roles in the progression of human gastric cancer
Keywords: جهش سومی; Somatic mutation; mtDNA; Gastric cancer; Drug resistance; Migration
A disequilibrium model for detecting genetic mutations for cancer
Keywords: جهش سومی; Somatic mutation; Cancer; Zygotic disequilibrium; EM algorithm;
Somatic mutations in PI3Kα: Structural basis for enzyme activation and drug design
Keywords: جهش سومی; PI3K; p110/p85; Somatic mutation; Gain of function; H1047R mutant;
Somatic mutations of mitochondrial genome in hepatocellular carcinoma
Keywords: جهش سومی; Somatic mutation; mtDNA; HCC; Mitochondrial dysfunctionAR, amphiregulin; bp, base pair; CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CO, cytochrome c oxidase; HCC, hepatocellular carcinoma; ho, homop
Somatic mutations of mitochondrial DNA in aging and cancer progression
Keywords: جهش سومی; Aging; Cancer; Mitochondria; mtDNA; Somatic mutation
A genetic approach to quantifying human in vivo mutation frequency uncovers transcription level effects
Keywords: جهش سومی; Somatic mutation; Transcription levels; DNA repair; DNA damage; DNA mutations and gender; In vivo mutation frequency
Activation of MET by Gene Amplification or by Splice Mutations Deleting the Juxtamembrane Domain in Primary Resected Lung Cancers
Keywords: جهش سومی; MET; Lung cancer; Adenocarcinoma; Somatic mutation; Gene amplification
Allozyme and microsatellite data reveal small clone size and high genetic diversity in aspen in the southern Cascade Mountains
Keywords: جهش سومی; Isozymes; SSR; Genet; Populus; Somatic mutation
Functional role of the KLF6 tumour suppressor gene in gastric cancer
Keywords: جهش سومی; Kruppel-like; Tumour suppressor gene; Gastric cancer; Loss of heterozygosity; Somatic mutation
Predicting reproductive success of insect- versus bird-pollinated scattered trees in agricultural landscapes
Keywords: جهش سومی; Eucalyptus; Honeybees; Isolated trees; Outcrossing rate; Seed production; Somatic mutation;
Gene expression changes in normal haematopoietic cells
Keywords: جهش سومی; haematopoiesis; microarrays; cDNA; transcriptome; proteome; cytokine; interleukin; malignancy; genome; epigenome; differentiation; polymorphism; ageing; somatic mutation; pharmacogenetics; post-translational modification; stem cell;
A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases
Keywords: جهش سومی; Amyotrophic lateral sclerosis; Motor neuron disease; Progressive muscular atrophy; Androgen receptor; Triplet repeat; Kennedy disease; Somatic mutation
Stomach cancer-derived del223V-226L mutation of the STCH gene causes loss of sensitization to TRAIL-mediated apoptosis
Keywords: جهش سومی; STCH; Somatic mutation; Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL); Apoptosis
Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas
Keywords: جهش سومی; RET proto-oncogene; Medullary thyroid carcinoma; Somatic mutation; Genetics; Prognosis
Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis
Keywords: جهش سومی; Y chromosome; Minisatellite; MSY1; Germline mutation; Somatic mutation; Gene conversion;
An analysis of the entire SOD1 gene in sporadic ALS
Keywords: جهش سومی; Amyotrophic lateral sclerosis; ALS; Superoxide dismutase 1; SOD1; Non-coding; Promoter; Introns; Splice sites; Somatic mutation;
The contribution of mitochondrial dysfunction to a gene–environment model of Guamanian ALS and PD
Keywords: جهش سومی; Gene–environment interaction; Somatic mutation; Inherited mutation; Chamorro; Transcription; Neurodegeneration
Sixty years of follow-up of Hiroshima and Nagasaki survivors: Current progress in molecular epidemiology studies
Keywords: جهش سومی; Radiation; Atomic-bomb survivors; Somatic mutation; Oxidative stress; Colorectal carcinogenesis; Microsatellite instability; Thyroid carcinogenesis
Multiple near-identical genotypes of Schistosoma japonicum can occur in snails and have implications for population-genetic analyses
Keywords: جهش سومی; China; Clonal replication; Genotyping; Microsatellites; Multi-locus genotype; Oncomelania; Schistosoma japonicum; Somatic mutation;
Use of IGHJ and IGHD gene mutations in analysis of immunoglobulin sequences for the prognosis of chronic lymphocytic leukemia
Keywords: جهش سومی; Chronic lymphocytic leukemia; Somatic mutation; Immunoglobulin; IGHJ; Repertoire development;
The BCL6 proto-oncogene: a leading role during germinal center development and lymphomagenesis
Keywords: جهش سومی; BCL6; Germinal center; Somatic mutation; LymphomaBCL6; Centre germinatif; Mutations somatiques; LymphomeABR, alternative breakpoint cluster region; AID, activation-induced deaminase; BCR, B-cell receptor; CSR, class switch recombination; DLBCL, diffuse la
Clonal structure and recruitment in British wild cherry (Prunus avium L.)
Keywords: جهش سومی; Asexual recruitment; Cherry; Clonal structure; Genet; Ramet; Somatic mutation; SSR; Vegetative reproduction
Development of a mantle cell lymphoma in an ATM heterozygous woman after occupational exposure to ionising radiation and somatic mutation of the second allele
Keywords: جهش سومی; ATM; Mantle cell lymphoma; Predisposition of heterozygotes; Ionising radiation; Somatic mutation
Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down
Keywords: جهش سومی; Somatic mutation; Myotonic dystrophy; Huntington disease; Chemical modifier; Triplet repeat; DNA mismatch repair
Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1
Keywords: جهش سومی; cloning; denaturing high-performance liquid chromatography; germline mutation; mosaicism; NF1; SNF1; somatic mutation;
High frequency of somatic missense mutation of BRCA2 in female breast cancer from Taiwan
Keywords: جهش سومی; Breast cancer; BRCA2; Somatic mutation; Taiwan;
B-1a cell origin of the murine B lymphoma line BCL1 characterized by surface markers and bacterial reactivity of its surface IgM
Keywords: جهش سومی; B cell lymphoma; Bacterial reactivity; B-1 cells; Somatic mutation;
Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress
Keywords: جهش سومی; AP; apurine/apyrimidine; BER; base excision repair; CAMK; Ca2+/calmodulin-dependent protein kinase; CREB; cyclic AMP response element-binding protein; CuZnSOD; copper/zinc superoxide dismutase; COX; cytochrome c oxidase; eNOS; endothelial nitric oxide syn