AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth CareGeographicals
Polymorphism, GeneticGene FrequencyPolymorphism, Single NucleotideAllelesGenotypeGenetic Predisposition to DiseaseCase-Control StudiesHaplotypesGenetic VariationAsian Continental Ancestry GroupPolymerase Chain ReactionCytochrome P-450 CYP1A1Cytochrome P-450 CYP3ACytochrome P-450 CYP2D6HeterozygoteHomozygoteGenetics, PopulationPhenotypeGenetic Association StudiesAryl Hydrocarbon HydroxylasesGlutathione TransferaseSelection, GeneticModels, GeneticPolymorphism, Restriction Fragment LengthGenetic MarkersLinkage DisequilibriumChinaCytochrome P-450 CYP1A2Risk FactorsCytochrome P-450 CYP2E1Glutathione S-Transferase piArylamine N-AcetyltransferaseMethylenetetrahydrofolate Reductase (NADPH2)Base SequenceIndians, South AmericanCytochrome P-450 Enzyme SystemEuropean Continental Ancestry GroupPharmacogeneticsMolecular Sequence DataGenetic LinkageJapanMutationPolymorphism, Single-Stranded ConformationalHeterozygote DetectionSequence Analysis, DNAEthnic GroupsCatechol O-MethyltransferaseElectrophoresis, Starch GelChromosome MappingPedigreeOdds RatioPaternityBlood Group AntigensEsterasesGenes, RecessiveKoreaJewsDNA PrimersMixed Function OxygenasesConsanguinityPromoter Regions, GeneticXeroderma Pigmentosum Group D ProteinProbabilitySmokingBiological EvolutionExonsGenes, DominantPhosphoglucomutaseRiskPeptidyl-Dipeptidase AGlucuronosyltransferaseMephenytoinAmplified Fragment Length Polymorphism AnalysisHaptoglobinsAfrican Continental Ancestry GroupMicrosatellite RepeatsCohort StudiesEnzymesGenome-Wide Association StudyDNAAmino Acid SubstitutionGenesAryldialkylphosphataseEpoxide HydrolasesHLA AntigensDNA Mutational AnalysisMathematicsAldehyde DehydrogenaseModels, BiologicalIntronsInbreedingTaiwanPhylogenyMinisatellite RepeatsP-GlycoproteinSerotonin Plasma Membrane Transport ProteinsBreast NeoplasmsMetabolic Detoxication, DrugBiotransformationLogistic Models
Metabolism and excretionCYP2C19EnzymesGenomicVariationsManganeseProteinsAlleleAntidepressantsPopulationsResponsesTargetsVariantsModulationTraitsLeast one variantCandidatesVariantEfficacyStudy was to evaluateDiseasesPatientsCliniciansMethodsEvaluateAssociationClinicalCopiesPotentialResponseDepressionResearchEvidenceTreatmentPresentActivityHigherCellIndividualsControlLargeMake
Metabolism and excretion3
  • Pharmacokinetic processes like absorption, distribution, metabolism and excretion are affected because of variations in genes that code for enzymes and transporters involved in these processes. (panaceapharmaprojects.com)
  • In the group, we investigate such recent evolutionary imprints in ADME genes that are of particular interest for clinicians because of their involvement in the Absorption, Distribution, Metabolism and Excretion of drugs. (unige.ch)
  • Variation in genes involved in the absorption, distribution, metabolism, and excretion of drugs (ADME) can influence individual response to therapeutic treatment. (unige.ch)
CYP2C192
  • Codeine and clopidogrel require more attention in giving prescription for 25% and 8% of newborns have a decreased function of CYP2D6 and CYP2C19 enzymes respectively. (researchsquare.com)
  • GWAS evidenced that the variability of phenotypes measuring CYP2B6, CYP2C9, CYP2C19 and CYP2D6 activity was associated with genetic variants linked to the corresponding encoding genes, and to additional genes for the latter three. (unige.ch)
Enzymes1
Genomic7
  • The aim of this study is to investigate potentially curable or treatable medical conditions in unselected newborns using genomic sequencing(GS). (researchsquare.com)
  • The NSIGHT initiative (NIH) 2012-2018 ( https://www.genome.gov/Funded-Programs-Projects/Newborn-Sequencing-in-Genomic-Medicine-and-Public-Health-NSIGHT ), aimed at large scale Newborn Sequencing in Genomic Medicine and Public Health using exome sequencing (ES), or genomic sequencing (GS). (researchsquare.com)
  • If a potentially clinically important genomic polymorphism has been identified but not fully studied, it should be reflected as missing information or a potential risk. (panaceapharmaprojects.com)
  • With this document, we are going to review how post-genomic technology have given fresh basic resources for the evaluation of the 3 circumstances and we will throw gentle on his or her probable throughout responding to long term study problems.Aims: To understand the particular correlation between the appearance reputation of different biological markers in breast cancer inside the elderly. (betaamyloidreceptor.com)
  • My main research interests lie in the origin and evolution of genetic and genomic diversity in human populations, and its links to the history of migrations and cultural differentiations, such as the diversification of languages or the adoption of new subsistence strategies. (unige.ch)
  • Our main approaches involve the comparison, in large population samples, of diversity patterns analyzed at the genomic level and in specific genetic systems, such as the CYP2D6 polymorphism, examined with PacBio technology, or GWAS and genomic scan approaches to investigate population variability in pharmacogenomics traits. (unige.ch)
  • To understand the potential functional role of human polymorphisms in genomic regions involved in drug responses, we also investigate their variability in our closest relatives, the chimpanzees. (unige.ch)
Variations6
  • Variations in toxicity and response to therapy are observed among patients despite similar clinicopathologic characteristics which are attributed to single nucleotide polymorphisms (SNPs). (researchsquare.com)
  • Individual genetic variations lead to different responses of patients to a single treatment regimen. (researchsquare.com)
  • Therefore, knowing the genetic variations (polymorphisms) will be effective in predicting the response to treatment, and accordingly, we can determine which patients will benefit from chemo- or radiotherapy (Ansell et al. (researchsquare.com)
  • These variations are also known as genetic polymorphisms. (panaceapharmaprojects.com)
  • Pharmacodynamic properties are affected due to variations in genes that affect drug targets, for example the VKORC1 gene which codes for active sites of the enzyme, epoxide reductase. (panaceapharmaprojects.com)
  • The aim of the study was to evaluate the efficacy of fluvoxamine in patients with various polymorphic variations of the CYP2D6 gene and suffering from newly diagnosed depressive disorder. (vestnik-surgery.com)
Manganese1
  • Galecki et al reported the association of a polymorphism of the manganese superoxide dismutase ( MnSOD ) gene and TD. (medscape.com)
Proteins4
  • With the wealth of data accumulated from completely sequenced genomes and other high-throughput experiments, global studies of biological systems, by simultaneously investigating multiple biological entities (e.g. genes, transcripts, proteins), has become a routine. (biomedcentral.com)
  • Such technological improvements enable a large number of molecules, including genes, transcripts, and proteins to be simultaneously measured in different conditions over time. (biomedcentral.com)
  • The detection associated with protein-protein interactions as well as quantification with their stoichiometry is therefore important to comprehend the molecular aim of proteins things. (betaamyloidreceptor.com)
  • We discuss how these contrasted results highlight diverse evolutionary trajectories of ADME genes and proteins, consistent with the wide spectrum of both endogenous and exogenous molecules that are their substrates. (unige.ch)
Allele3
  • found a biallelic polymorphism (Ala−9Val) in the mitochondrial targeting sequence (MTS) of human MnSOD in a Japanese population and reported a significant positive association between the MnSOD allele and Parkinson's disease. (nature.com)
  • In this study, we investigated the genetic association of the MnSOD allele with schizophrenia and TD in a Japanese sample through case-control studies. (nature.com)
  • These results suggest that the T allele of the C825T polymorphism in the GNB3 gene is associated with MDD. (neurotransmitter.net)
Antidepressants2
  • The genes involved in signal transduction are major candidates in association studies on affective disorders and responses to antidepressants. (neurotransmitter.net)
  • An example of this is the enzyme CYP2D6 which is responsible for the metabolism of a variety of antidepressants. (panaceapharmaprojects.com)
Populations2
  • Module SIV "Populations not studied in clinical trials" allows for inclusion of data on the low exposure of populations with genetic polymorphisms, where available and appropriate, as well as the type of polymorphism. (panaceapharmaprojects.com)
  • Study of ADME genetic diversity in human populations has led to evolutionary hypotheses of adaptation to distinct chemical environments. (unige.ch)
Responses1
  • Association between a G-protein beta3 subunit gene polymorphism and the symptomatology and treatment responses of major depressive disorders. (neurotransmitter.net)
Targets3
  • By convention, clinicians typically focus on specific sets of key genetic markers associated with diseases, to identify the most probable drug targets. (biomedcentral.com)
  • PUMILIO acts on hundreds of mRNA targets, contributing to the modulation of gene expression. (scielo.org)
  • These genes are potential targets of natural or cultural selection due to their function taking place at the interface between the organism and its chemical and dietary environment. (unige.ch)
Variants3
  • Follow-up of the three families confirmed that one child was diagnosed with PKU and two children with GJB2 variants were scheduled to undergo hearing loss testing every six months after genetic counceling due to the nature of incomplete penetrance of hearing loss. (researchsquare.com)
  • 11 heterozygous pathogenic/ likely pathogenic variants in eight PID genes were identified in 11 infants. (researchsquare.com)
  • The results suggest that using GS may be a suitable method for screening newborns for variants in a large number of disease associated genes. (researchsquare.com)
Modulation1
  • Uncovering a Genetic Polymorphism Located in Huntingtin Associated Protein 1 in Modulation of Central Pain Sensitization Signaling Pathways. (unige.ch)
Traits2
  • High-throughput phenotyping for the genetic dissection of drought tolerance related traits in Zea mays and Triticum durum Desf. (lookformedical.com)
  • In this dissertation we expose the results of two research conducted using high-throughput phenotyping techniques with the aim of discovery the genetic bases underling drought adaptive traits in maize and durum wheat. (lookformedical.com)
Least one variant2
  • All 321 newborns carried at least one variant at the five DPGW recommended PGx genes. (researchsquare.com)
  • It is estimated that more than 97% of people carry at least one variant in a gene that can influence drug response. (panaceapharmaprojects.com)
Candidates2
  • Here, we discuss how such methodology can be useful to translational biomedical research, where scientists traditionally focus on one or a small set of genes, diseases, and drug candidates at any one time. (biomedcentral.com)
  • Genome scans of selection highlighted multiple candidate regions, a few of which included ADME genes, but none overlapped with the GWAS candidates. (unige.ch)
Variant2
  • Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment. (neurotransmitter.net)
  • The aim of the present study was to test a possible effect of the G-protein beta3-subunit (Gbeta3) C825T gene variant on the antidepressant activity of selective serotonin reuptake inhibitors (SSRIs) in a sample of major and bipolar depressives, with or without psychotic features. (neurotransmitter.net)
Efficacy1
  • Warfarin, an inhibitor of epoxide reductase, has a reduced efficacy in individuals with a genetic polymorphism of the VKORC1 gene. (panaceapharmaprojects.com)
Study was to evaluate1
  • The aim of this study was to evaluate effect of CBD on the disposition of the CES1 substrate methylphenidate (MPH). (inra.fr)
Diseases2
  • 61 Mendelian Diseases, 151 Primary Immunodeficiency Diseases(PID) and 5 DPWG recommeded Essential pharmacogenetic(PGx) genes were analyzed. (researchsquare.com)
  • Currently, testing for other diseases such as Spinal Muscular Atrophy (SMA) is being implemented and additional conditions are being considered for national genetic screening of newborns. (researchsquare.com)
Patients3
  • Understanding gene polymorphisms will help us move toward personalized medicine and determine which patients will actually benefit from therapies for HNSCCs. (researchsquare.com)
  • Patients carrying multiple copies of the active gene for CYP2D6 have a higher rate of drug metabolism resulting in a reduction in the response and failure of the treatment. (panaceapharmaprojects.com)
  • The aim of this study was to assess clinical features that contribute to the specific phenotypic presentations and disease course of FMD.Methods: The study consisted of 100 patients with FMD treated at Clinic for Neurology, Clinical Center of Serbia, who were longitudinally observed. (lookformedical.com)
Clinicians1
  • In this review, we aim to improve the understanding of challenges in biomedical research and establish a common ground between clinicians and systems biologists to further promote the application of network biology in translational medicine. (biomedcentral.com)
Methods1
  • Different methods for identification of mutated genes, including Targeted Region Sequencing (TRS), ES and GS, is currently standard procedure in newborn children with a suspected disease. (researchsquare.com)
Evaluate2
  • The aim of this review was to evaluate the impact of SNPs on toxicity and response to therapy in HNSCCs. (researchsquare.com)
  • The EMA's guidance document (EMA/CHMP/718998/2016) provides a framework on how to evaluate pharmacovigilance related issues associated with pharmacogenomic biomarkers, with the aim of translating the results to appropriate treatment recommendations in the product labelling. (panaceapharmaprojects.com)
Association1
  • Instead, GWAS did not indicate any association between genetic diversity and the phenotypes measuring CYP1A2, CYP3A4 and P-glycoprotein activity. (unige.ch)
Clinical5
  • Introduction: This survey aims to assess the implementation of recommendations from the European Atherosclerosis Society (EAS) and the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) by clinical biochemistry laboratories in Czechia and Slovakia in their policies for reporting low-density lipoprotein cholesterol (LDL-C) concentrations. (bvsalud.org)
  • In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests which quickly and economically analyze the entire human genome. (cdc.gov)
  • Author Manuscript clinical laboratories, but are not available for most genetic tests offered by only one or a few laboratories. (cdc.gov)
  • Author Manuscript and led to an increased role for clinical genetic testing in patient management. (cdc.gov)
  • To offer carried on histones epigenetics screening good quality using the intro of new assays, the main objective of this study was to assess the analytic as well as clinical functionality from the NeuMoDx platform for your discovery and also quantification regarding CMV along with EBV Genetic make-up inside EDTA plasma tv's. (ikksignal.com)
Copies1
  • As zero conversion through log10 intercontinental models for each cubic centimeters in order to illegal copies for each cubic centimeters was supplied, the second aim was to compute along with begin a alteration element to the manufacturing of brings about copies for each milliliters for CMV along with EBV. (ikksignal.com)
Potential1
  • While familial aggregation could suggest a potential hereditary component in FMS development, isolation of genetic determinants has proven difficult due to the multi-factorial nature and complexity of the syndrome. (unige.ch)
Response3
  • A web-based search of all original articles about the impact of gene polymorphisms on toxicity and response to therapy in HNSCCs was done until September 2021 using international English language databases including Google Scholar, Scopus, PubMed and Web of science. (researchsquare.com)
  • So, the aim of this review was to investigate the effect of single nucleotide polymorphisms (SNPs) on response rate and toxicity in HNSCCs. (researchsquare.com)
  • 1 Simply stated, it is the study of how genes affect a person's response to medicines. (panaceapharmaprojects.com)
Depression5
  • The results of this study suggest that the investigated G-protein beta3 subunit seems to be a susceptibility factor for major depression and maybe even for bipolar disorder, but not for schizophrenia. (neurotransmitter.net)
  • Preliminary Evidence for Genetic Nurture in Depression and Neuroticism Through Polygenic Scores. (cdc.gov)
  • Is there evidence for parental genetic nurture in the risk of depression and neuroticism? (cdc.gov)
  • In this cross-sectional study of 38?702 offspring, results from polygenic score (PGS) modeling provide limited preliminary evidence of genetic nurture in depression and neuroticism. (cdc.gov)
  • Parental PGSs for depression were significantly associated with offspring neuroticism, with a regression estimate two-thirds that of the offspring's own PGS, whereas results suggest that previous associations between cannabis use PGS and depression may be noticeably biased by parental genetic nurture. (cdc.gov)
Research4
  • [ 4 ] Thus, further research is needed to investigate the role of the dopamine transporter in the development and maintenance of TD. (medscape.com)
  • Our research group investigate social cognition, decision making and working memory in sychizophrenia with resting state and event related EEG, fMRI and structural MRI including Diffusion Weighted Imaging (DWI). (researchgate.net)
  • The aim is to provide a snapshot of some of the most exciting work published in the various research areas of the journal. (mdpi.com)
  • Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed. (cdc.gov)
Evidence1
  • However, Lafuente et al did not find evidence of involvement of a polymorphism with a variable number of tandem repeats (VNTD) in the DAT gene (SLC6A3) in dyskinesias induced by antipsychotics. (medscape.com)
Treatment3
  • For this reason, the aim is to automate the process of diagnosis and treatment. (mdpi.com)
  • The application of genetic knowledge to personalised medicine could help to tailor treatment to each patient's unique characteristics as opposed to a one-size-fits-all. (panaceapharmaprojects.com)
  • Kratom use has surged in popularity with the lay public and is currently being investigated for possible therapeutic benefits including as a treatment for opioid withdrawal due to the pharmacologic effects of its indole alkaloids. (inra.fr)
Present1
  • Polymorphisms which are clinically relevant and present an ethnic-dependent pattern of distribution may also be appropriate for discussion in this section for either preventing ADRs or improving benefits. (panaceapharmaprojects.com)
Activity2
  • A recently identified polymorphism of a G-protein beta3 subunit (C825T) has been shown to be associated with increased signal transduction and ion transport activity. (neurotransmitter.net)
  • We demonstrate significant population differentiation for all phenotypes except the one measuring CYP2D6 activity. (unige.ch)
Higher1
  • As a result of this polymorphism, more vitamin K will be activated that requires a higher dose of warfarin to be inhibited. (panaceapharmaprojects.com)
Cell1
  • Animal data is presented that demonstrate perinatal windows of susceptibility to sidestream smoke, a surrogate for ETS, resulting in altered airway sensitivity and cell type frequency. (blogspot.com)
Individuals1
  • Marfan syndrome is estimated to affect 1 in 5000 individuals worldwide and occurs with equal frequency in males and females. (cdc.gov)
Control1
  • 1800. Its aim is the control and prevention of hazards arising from (1714-1788) discovered that soot exposure in the London pre- workplace exposures. (cdc.gov)
Large1
  • The frequency and gun between the hospitalization money Despair who drew the unavailable photo and the eggs had made to get a large MESA that were in a labor of Boris of alone more occupational products of his request. (flash-controller.de)
Make1
  • right participate and like Moving tastes and rich periods from May 13-14, 2019 in Stockholm, the Sweden to make up with the always genetic A Designer s Guide to Built in Self Test 2002 of Sassoon that is as seeing an interest on the genome of stick and action. (ramonlbaez.com)