AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth CareGeographicals
Gene FrequencyGenotypePolymorphism, GeneticAllelesPolymorphism, Single NucleotideGenetic VariationGenetic Predisposition to DiseasePolymorphism, Restriction Fragment LengthHaplotypesSelection, GeneticPolymerase Chain ReactionAsian Continental Ancestry GroupGenetics, PopulationModels, GeneticIndians, South AmericanCase-Control StudiesHeterozygoteBlood Group AntigensPaternityGenes, RecessiveJewsHeterozygote DetectionPhenotypeHomozygoteConsanguinityElectrophoresis, Starch GelMutationGenes, DominantPhosphoglucomutaseGenetic LinkageProbabilityMathematicsEthnic GroupsPedigreeModels, BiologicalEsterasesBase SequenceInbreedingGenetic MarkersGaucher DiseaseChromosome MappingMolecular Sequence DataBiological EvolutionTranscription FactorsGenesHaptoglobinsAfrican Continental Ancestry GroupEnzymesHLA AntigensNuclear FamilyComputer SimulationGene Expression RegulationPromoter Regions, GeneticDNA-Binding ProteinsTranscription, GeneticTime FactorsJapanSignal TransductionChromatin ImmunoprecipitationRepressor ProteinsErythrocytesLod ScoreTranscriptional ActivationGene Expression ProfilingCell Line, TumorMicroRNAsOligonucleotide Array Sequence AnalysisCell LineEuropean Continental Ancestry GroupTrans-ActivatorsReverse Transcriptase Polymerase Chain ReactionProtein BindingRNA, MessengerNuclear ProteinsGene Expression Regulation, DevelopmentalHomeodomain ProteinsGene Expression Regulation, NeoplasticBinding SitesCells, CulturedVibrationDNAAcoustic StimulationDrosophila ProteinsElectric StimulationAction PotentialsBasic Helix-Loop-Helix Transcription FactorsRNA InterferenceMice, Inbred C57BLTumor Suppressor Protein p53DNA PrimersGenes, ReporterResponse ElementsNeuronsTransfectionCell Proliferationbeta CateninAmino Acid SequenceAuditory ThresholdRNA, Small InterferingSequence Analysis, DNA
Allelic frequenciesAllele frequencyMutationsVariantsGenotypeChromosomePolymorphismSusceptibility0.03GeneticPhenotypesResistanceSNPsResultsExonGenomicHighly expressedEncodesProteinCharacterizeSubunitsInvestigateDescriptiveDetectTraitsProcessesAssociationCasesPatientsHumanSequenceUntranslated regionPopulationExpression profilesRiskTime
Allelic frequencies2
  • Materials and Methods: Three miRNA variants and four variants in the miRNA binding sites were selected based on allelic frequencies, while their potential impact has been described in previous studies. (iiarjournals.org)
  • Objective: The genotype and allelic frequencies for OPN and its association with milk production will be evaluated in Iranian Holstein Bulls. (ijbiotech.com)
Allele frequency3
  • Among the descriptive data, the allele frequency of the C282Y variant (0.252) stands out, which differs from the national scenario. (scielo.br)
  • It allows the user to retrieve SNPs using various filters (such as genomic position, missing data, polymorphism type, allele frequency), to compare SNP patterns between populations, and to export genotyping data or sequences in various formats. (biomedcentral.com)
  • Conclusions: This study suggested that the C allele frequency of OPN was noticeable in Iranian proven bull Holstein population, but was not associated with milk production traits. (ijbiotech.com)
Mutations7
  • In humans, HCM is typically caused by mutations in cardiac sarcomere protein genes and occasionally in non-sarcomeric genes. (cagh.org.uk)
  • We hypothesised that HCM in cats is associated with mutations in the same genes as in human HCM. (cagh.org.uk)
  • Mutations in ion channel genes have been identified as a common cause of IGE. (hindawi.com)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl‑tRNA synthetase 2 (RARS2) gene. (spandidos-publications.com)
  • Thus, the present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)
  • The present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)
Variants8
  • Several studies have reported various epilepsy risk variants of GABRG2 ( gamma-aminobutyric acid type A receptor subunit gamma2 subunit ) gene in different ethnic groups, but the results are inconsistent. (hindawi.com)
  • Seizures, epileptogenesis, and epilepsy are all influenced by genes and their variants on numerous levels. (hindawi.com)
  • The most studied variants are linked to the HFE gene. (scielo.br)
  • This model was developed using data collected from molecular epidemiology studies of allergic asthma that examined variants in 16 susceptibility genes. (cdc.gov)
  • In light of this, a multiplicative gene-gene interaction model was developed to allow for estimating the combinatorial contribution of multiple genetic variants to disease risk. (cdc.gov)
  • Background: As microRNAs play important roles in cancer development and progression by regulating the expressions of oncogenes and tumor suppressor genes though interacting with the 3' untranslated region (UTR) of target genes, we aimed to evaluate the association between genetic variants of miRNAs and their binding sites and prognosis in patients with colorectal cancer (CRC). (iiarjournals.org)
  • Results: Among seven target variants, rs1044129 at the miR-367 binding site of calcium channel ryanodine receptor gene 3 (RYR3) was associated with relapse-free survival (RFS) for colon cancer patients as a recessive model in a univariate analysis. (iiarjournals.org)
  • TRPV1 is the target of several novel analgesics drugs under development and therefore, TRPV1 genetic variants might represent promising candidates for pharmacogenetic modulators of drug effects. (researchgate.net)
Genotype1
  • Based on the product of single gene variant odds ratios, the risk of developing asthma was assigned to genotype profiles, and the frequency of each profile was estimated for the general population. (cdc.gov)
Chromosome5
  • We evaluated single-nucleotide polymorphisms at atpase6 (pfATPase6), pfcrt (chloroquine resistance transporter) , cytb (cytochrome b), dhfr (dihydrofolate reductase), dhps (dihydropteroate synthetase), mdr1 (multidrug resistance protein) and mdr1 copy number, and kelch13 (kelch protein gene on chromosome 13). (cdc.gov)
  • GABRG2 , a highly expressed gene in brain, resides on chromosome 5q34. (hindawi.com)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • The gene is part of a cluster of MMP genes on chromosome 11. (cancerindex.org)
  • Osteopontin gene (OPN) and PPARGC1A are located in the middle of chromosome 6 about 6 Mb apart, which is approximately 12 cM (6) and encodes osteopontin, the prime candidate among the six genes in the 420 Kb region (9). (ijbiotech.com)
Polymorphism5
  • Allelic/genotypic frequencies at each single nucleotide polymorphism (SNP) locus with a likely high, moderate, or modifier functional impact were compared between cases and controls using the Chi-squared and T-tests. (cagh.org.uk)
  • For this purpose, we genotyped exon2, exon5 ( C540T and C588T ), exon7 ( T813C ), exon8 ( K289M ), and exon9 of GABRG2 gene by restriction fragment length polymorphism and Sanger's sequencing in 87 drug-responsive idiopathic generalized epilepsy patients, 55 drug-resistant epilepsy patients, and 83 healthy controls. (hindawi.com)
  • The purpose of this study was to identify the polymorphism of the mitogen-activated protein kinase 5 ( MAP3K5 ) gene and determine whether it was associated with the body size traits (body height, body length, chest circumference, and cannon circumference) in Hu sheep. (copernicus.org)
  • Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
  • In Cooperative Dairy DNA repository a single nucleotide polymorphism (SNP) reported in intron 4 (C/T) and has shown that allele C OPN gene is associated with milk production traits in dairy cattle (10). (ijbiotech.com)
Susceptibility3
  • Among ligand-gated channel genes, the genes encoding gamma-aminobutyric acid (GABA) receptors are considered a hotspot for susceptibility of IGE because of the extensive distribution of GABA receptors in the central nervous system (CNS), their potential for postsynaptic inhibition, and regulation by therapeutically important antiepileptic drugs [ 10 ]. (hindawi.com)
  • Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
  • For CRC, polymorphisms in the genes involved in tumor progression, apoptosis, and angiogenesis have already been extensively studied for their association with cancer susceptibility and prognosis ( 1 - 7 ). (iiarjournals.org)
0.032
  • Results: Allele frequencies of T and C were 0.59±0.03 and 0.41±0.03, respectively. (ijbiotech.com)
  • A higher percentage of children with caries had, in their dental plaque, S. mutans harboring the spaP+ gene (p=0.03). (bvsalud.org)
Genetic1
Phenotypes2
  • To investigate how genes and phenotypes are transmitted, we developed a general model that, for the first time, considers concurrently: multiple loci, quantitative and qualitative gene expression, assortative mating, dominance/recessivity inheritance and density-dependent demographic effects. (nature.com)
  • Voltage-gated and ligand-gated are key ion channel genes that have been linked to distinct epilepsy phenotypes [ 9 ]. (hindawi.com)
Resistance7
  • We aimed to identify the prevalence of several resistance markers, including genes that confer resistance to chloroquine, mefloquine, atovaquone/proguanil, and artemisinins, and to quantify the copy number of multidrug resistance genes ( pfmdr1 ) in P. falciparum isolates from malaria cases imported to Ontario, Canada, over a 10-year period. (cdc.gov)
  • This includes the spread of transgenic genes and antibiotic resistance. (nature.com)
  • This report presents the status of AMR in Africa by analysing the main types of resistance and the underlying genes where possible. (who.int)
  • This study aimed to assay the prevalence of common β-lactam resistance genes including bla TEM , bla SHV , bla CTX-M and bla CMY and phenotypic resistance to commonly used β-lactam and fluoroquinolone antibiotics in UTIs. (biomedcentral.com)
  • Real-time PCR was applied to detect β-lactam resistance genes and conventional PCR was used to determine the phylotypes. (biomedcentral.com)
  • The prevalence of resistance genes were 89.6% for bla TEM , 44.3% for bla CTX-M , 6.6% for bla SHV and 0.9% for bla CMY . (biomedcentral.com)
  • Resistance against β-lactam agents can occur via (i) mutation or expression of alternative penicillin-binding proteins (PBPs) as the drug target, (ii) downregulation of porins to reduce the bacterial permeability against β-lactams, (iii) over-expression of efflux systems which are membrane transport proteins to export drug substrates and (iv) production of β-lactamases that hydrolyze the β-lactam amide [ 6 ]. (biomedcentral.com)
SNPs2
  • More than 9,000 SNPs and insertions and deletions (INDELs) were detected in 15 out of the 18 genes. (cagh.org.uk)
  • 10 SNPs located in the TNNT2, TPM1, ACTN, PDLIM3 and CSRP3 genes had a significantly higher frequency in cases compared to controls. (cagh.org.uk)
Results4
  • Our results reveal that the conclusions about how hybridization threatens a species can be biased if they are based on single-gene models, while considering two or more genes can correct this bias. (nature.com)
  • Fst results supported GWAS results with the highest Fst peak also spanning the TNNT2 gene. (cagh.org.uk)
  • These results suggest an association of HCM with TNNT2 and other candidate genes across feline breeds. (cagh.org.uk)
  • Results The amplicons covered approximately 97% of the target sequence. (researchgate.net)
Exon1
  • A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
Genomic1
  • Genomic profiling also identifies genes associated with poor outcome in cases without molecular aberrations and specific genes that may be new therapeutic targets in adult ALL. (aacrjournals.org)
Highly expressed1
  • We also identified a set of 83 genes that were highly expressed in leukemia blasts from patients without known molecular abnormalities who subsequently relapsed following therapy. (aacrjournals.org)
Encodes1
  • This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). (cancerindex.org)
Protein2
Characterize1
  • To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
Subunits1
  • Malfunction of the gene encoding these subunits influences the expression, gating of the ion channels, and trafficking of GABA receptors to the cellular surface [ 13 ]. (hindawi.com)
Investigate1
  • To investigate this, we performed targeted re-sequencing of 18 genes known to cause HCM in humans in a group of 48 cats (25 cases and 23 breed-matched controls) of 8 different breeds. (cagh.org.uk)
Descriptive1
  • All under-five children with suspected meningitis over the 10-years period were included and descriptive statistics like frequency, percentage, mean, median and standard deviations were used for the characteristics of under-five Children with Suspected Bacterial Meningitis. (bvsalud.org)
Detect1
  • Objective: To detect the presence and transmission of S. mutans carrier of the spaP gene in samples of bacterial plaque in mother/child pairs from municipal child education centers, and the possible association with dental caries. (bvsalud.org)
Traits2
  • Targeted gene identification, controlling economically important traits seems a way forward for future breeding programs. (ijbiotech.com)
  • 2007b) investigated the association of OPN and PPARGC1A genes with milk production traits in the Holstein cattle populations. (ijbiotech.com)
Processes2
  • MicroRNAs (miRNAs), a class of small, endogenous, non-coding RNAs, are able to regulate gene expression by translational repression or mRNA degradation of the target, thereby affecting critical functions in various physiological processes, ranging from cell proliferation to apoptosis ( 8 , 9 ). (iiarjournals.org)
  • Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
Association2
  • The GWAS detected one SNP with a genome-wide significant association with HCM located within the TNNT2 gene and several others with a suggestive significant association. (cagh.org.uk)
  • An association was found between experience of caries in the children and the presence of bacteria carrying the spaP+ gene. (bvsalud.org)
Cases2
  • Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
  • Per copy frequency of T allele (Val) was found to be 0.14 in cases versus 0.19 in controls (p (scirp.org)
Patients1
  • Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
Human2
  • The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
  • This gene exhibits elevated expression levels in multiple human cancers. (cancerindex.org)
Sequence1
  • Using DNA extracted from bacteria in the dental plaque of mother/child pairs, a sequence of the S. mutans spaP gene was amplified using PCR. (bvsalud.org)
Untranslated region1
  • In particular, most miRNAs bind to target sequences located within the 3'-untranslated region (3'UTR) of mRNAs, resulting in the cleavage of the target mRNAs or repression of their translation ( 13 ). (iiarjournals.org)
Population1
  • Le risque peut être considérable en raison de leurs courtes périodes de virémie asymptomatique dans la population dont l'incidence est variable et parfois extrêmement élevée. (bvsalud.org)
Expression profiles1
Risk1
  • The differential frequencies in oral cancer and LTTUs were calculated using SPSS software (version 19), and odds ratio (OR) to indicate risk to oral cancer using Hutchon.net. (brjnmims.org)
Time1
  • We confirmed the P. falciparum specimens from the biobank as monoinfections using multiplex real-time quantitative PCR (qPCR) ( 1 , 6 , 7 ) after clinical testing, which included Giemsa-stained thick and thin blood film examination by certified medical lab technologists and rapid diagnostic test using the Abbott BinaxNOW malaria kit (https://www.globalpointofcare.abbott/en/index.html). (cdc.gov)