GenesMutationsAllelePredictionEpigeneticGenotypeStructuralGenomicChromosomeTrinucleotidePhenotypesLinkageGene expressionAdditionallyMutationPsychosisSchizophreniaMetabolicMechanismsInherentPrevalenceInvestigatesNeurodevelopmentalInheritancePopulationsVariationMarkersLargelyAnalysesProteinEffectsImmuneSpeciesMethodsResistanceFoundRiskStudyStructureAdditionStudiesSmallDevelopmentCopy
Genes16
- Commonly these markers are individual genetic changes, such as driver mutations affecting oncogenes or tumor suppressor genes, or copy-number alterations thereof. (nature.com)
- This is exemplified in "BRCAness" - a gene expression signature that suggests a deficient homologous recombination (HR) pathway, even in the absence of deleterious genetic variants in the BRCA1/2 genes. (nature.com)
- This is exemplified by a mutational signature associated with pathogenic variants in BRCA1 and BRCA2 genes 11 , 23 , thus identifying HR deficient tumors. (nature.com)
- GWA studies identify SNPs and other variants in DNA associated with a disease, but they cannot on their own specify which genes are causal. (wikipedia.org)
- Except in the case of rare genetic diseases, these associations are very weak, but while each individual association may not explain much of the risk, they provide insight into critical genes and pathways and can be important when considered in aggregate. (wikipedia.org)
- The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
- The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
- The identification of causal or predictive variants/genes/mechanisms for disease-associated traits is characterized by 'complex' networks of molecular phenotypes. (researchgate.net)
- Tumors acquire alterations in oncogenes and tumor suppressor genes in an adaptive walk through the fitness landscape of tumorigenesis. (bvsalud.org)
- This study investigates the impact of ESR gene polymorphism and its interactions with neurodevelopmental genes on ADHD susceptibility. (psychiatryinvestigation.org)
- We also found genetic interaction models between ESR2 gene, neurodevelopmental genes and ADHD susceptibility in males ( ESR2 rs960070/ BDNF rs6265/ BDNF rs2049046/ SNAP25 rs362987/ CDH13 rs6565113) and females ( ESR2 rs960070/ BDNF rs6265/ BDNF rs2049046) separately, though it was negative in overall subjects. (psychiatryinvestigation.org)
- The ESR gene polymorphism associates with ADHD among Chinese Han children, with interactions between ESR genes and neurodevelopmental genes potentially influencing the susceptibility of ADHD. (psychiatryinvestigation.org)
- Research on the genetic mechanism of sex dimorphism in ADHD has mainly focused on X or Y chromosome genes, with comparatively less attention given to genes related to sex hormones. (psychiatryinvestigation.org)
- Epistasis between genes is traditionally studied with mutations that eliminate protein activity, but most natural genetic variation is in cis-regulatory DNA and influences gene expression and function quantitatively. (bvsalud.org)
- In addition, the study of rare genetic diseases that increase the risk of malignancy in childhood has led to an understanding of important cancer genes, which has wide applicability to oncology in both children and adults. (medscape.com)
- It is the product of interactions between genes, and between the GENOTYPE and the environment . (lookformedical.com)
Mutations3
- Alterations in TP53 and five additional TSGs (RB1, NF1, ARID1A, BRCA1, and PTEN) were used to stratify the cohort into the following three subgroups: patients with tumors harboring a TP53 mutation plus a mutation in at least one additional TSG (TP53mut/TSGmut), those having a TP53 mutation without additional TSG mutations (TP53mut/TSGwt), and those with TP53wt. (bvsalud.org)
- The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. (bvsalud.org)
- Genetic disorders result from new or inherited gene mutations . (amboss.com)
Allele4
- If there is significant statistical evidence that one type of the variant (one allele) is more frequent in people with the disease, the variant is said to be associated with the disease. (wikipedia.org)
- This study type asks if the allele of a genetic variant is found more often than expected in individuals with the phenotype of interest (e.g. with the disease being studied). (wikipedia.org)
- Combining a promoter allelic series with two other loci, we collected over 30,000 phenotypic data points from 46 genotypes to quantify how allele strength transforms epistasis. (bvsalud.org)
- We revealed a saturating dose-dependent relationship but also allele-specific idiosyncratic interactions, including between alleles driving a step change in fruit size during domestication. (bvsalud.org)
Prediction1
- A proposed workflow for proactive virus surveillance and prediction of variants for vaccine design. (cdc.gov)
Epigenetic1
- Examples of 2-omics analyses include expression quantitative trait locus eQTL (Franke & Jansen, 2009) and methylation quantitative trait locus meQTL (Smith, Kilaru, Kocak, Almli, & Mercer, 2014) that, respectively, assess the influence of genetic and epigenetic markers on gene expression. (researchgate.net)
Genotype1
Structural2
- Other types of mutation signatures based on small insertions and deletions (indels) 9 and on structural variants 22 are also starting to be introduced. (nature.com)
- By examining an unstable genome, Schatz identified almost 20,000 structural alterations - changes previously missed by other researchers when examining shorter DNA fragments. (agbt.org)
Genomic1
- 2019) Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. (umh.de)
Chromosome1
- All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
Trinucleotide2
- One common type of signature describes relative frequencies of somatic single-nucleotide variants (SNV) across different trinucleotide contexts. (nature.com)
- A codon is a DNA or RNA sequence of three nucleotides (a trinucleotide) that forms a unit of genetic information encoding a particular amino acid. (genome.gov)
Phenotypes2
- Our approach and findings expose an underexplored dimension of epistasis, in which cis-regulatory allelic diversity within gene regulatory networks elicits nonlinear, unpredictable interactions that shape phenotypes. (bvsalud.org)
- Both circuits and gene expression phenotypes that are robust to genetic change are associated with a greater number of latent phenotypes. (biomedcentral.com)
Linkage4
- Around the year 2000, prior to the introduction of GWA studies, the primary method of investigation was through inheritance studies of genetic linkage in families. (wikipedia.org)
- However, for common and complex diseases the results of genetic linkage studies proved hard to reproduce. (wikipedia.org)
- A suggested alternative to linkage studies was the genetic association study. (wikipedia.org)
- Early calculations on statistical power indicated that this approach could be better than linkage studies at detecting weak genetic effects. (wikipedia.org)
Gene expression1
- These evidences are often based on the derivation of standard measures of association, linking (epi-)genetic markers to gene expression combined with gene expression analysis (Wagner, Busche, Ge, Kwan, & Pastinen, 2014). (researchgate.net)
Additionally1
- Adult mCx47M282T expressing mice did not show substantial myelin alterations, but homozygous Cx47M282T mice, additionally deprived of connexin32, which is also expressed in oligodendrocytes, died within six weeks after birth and displayed severe myelin defects accompanied by astrogliosis and activated microglia. (prolekarniky.cz)
Mutation2
- Although the presence of a TP53 mutation was associated with worse outcomes, the additional TSG alteration in TP53mut tumors identified a subset of patients associated with particularly aggressive disease and inferior clinical outcome in both the Yale and the GENIE cohorts. (bvsalud.org)
- Emergence of E484K Mutation Following Bamlanivimab Monotherapy among High-Risk Patients Infected with the Alpha Variant of SARS-CoV-2. (iame-research.center)
Psychosis3
- Indeed, 100 years later the Kraepelin's distinction between affective disorders and schizophrenia ( dementia praecox ), psychiatric research emphasizes the organic etiology of psychosis, in terms of genetic vulnerability, pathological and functional brain alterations. (clinical-practice-and-epidemiology-in-mental-health.com)
- Gary's research focuses on understanding the genetic and neural basis of cognitive deficits associated with psychosis, and the development of therapeutic programs for overcoming these deficits. (universityofgalway.ie)
- The group studies how brain structure and function are affected by genetic risk factors for psychosis using neuropsychology, MRI and EEG. (universityofgalway.ie)
Schizophrenia3
- 2019) Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia. (umh.de)
- 2019) A polygenic resilience score moderates the genetic risk for schizophrenia. (umh.de)
- In 2015 Gary was the recipient of a European Research Council fellowship award for his work on immune mediated genetic effects on cognition in schizophrenia. (universityofgalway.ie)
Metabolic2
- Clonal expansion of high-performing producer cells can favor the emergence of low-producing escape variants that have shed the load from metabolic burden or toxicities imposed by product synthesis or secretion. (savingtheworldwithscience.com)
- Flux, toxicity, and expression costs generate complex genetic interactions in a metabolic pathway. (iame-research.center)
Mechanisms2
- The developed model allows studying various resistance mechanisms, inherent fitness effects, selection forces and epistasis based on microscopic kinetic data. (plos.org)
- Since the evolutionary forces driving genetic changes that cause infertility between species are likely also acting within species, the study of hybrid sterility also promises significant insight into mechanisms underlying infertility within species. (elifesciences.org)
Inherent1
- Adaptive laboratory evolution has some major benefits as compared with classical genetic engineering but also some inherent limitations. (biomedcentral.com)
Prevalence1
- Genome sequencing of SARS-CoV-2 reveals the prevalence of variant B 1.1.7 in Egypt. (cdc.gov)
Investigates1
- It investigates the interaction between proteins and DNA in the cell. (frontlinegenomics.com)
Neurodevelopmental1
- Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. (neurotransmitter.net)
Inheritance2
- Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
- Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
Populations2
- Such strategies implicitly presume that resistance leads to reduced bacterial fitness in an antibiotic-free environment, and therefore these resistant populations should be rapidly outcompeted by antibiotic-sensitive variants. (elifesciences.org)
- It has been proposed that immunosenescence in ageing populations may, in part, be driven by alterations in the composition and diversity of the gut microbiota, which confers a fundamental immunomodulatory role at promoting intestinal integrity and reducing local and systemic inflammation [ 2 ]. (biomedcentral.com)
Variation1
- The 1,000 Genome Project (1KGP) launched in January 2008 with the aim of generating the most detailed catalogue of common human genetic variation using whole-genome sequencing. (frontlinegenomics.com)
Markers3
- these are as numerous as associations with established genetic markers such as driver gene alterations. (nature.com)
- Replication analyses across independent drug and CRISPR genetic screening data sets reveal hundreds of robust associations, which are provided as a resource for drug repurposing guided by mutational signature markers. (nature.com)
- Genetic resources of macroalgae: Development of an efficient method using microsatellite markers in non-model organisms. (sb-roscoff.fr)
Largely2
- OBJECTIVE: Autism/autistic disorder (MIM number 209850) is a complex, largely genetic psychiatric disorder. (neurotransmitter.net)
- Genetic insights into the interaction between age-related alterations in the gut microbiota and immune function remain largely unexplored. (biomedcentral.com)
Analyses1
- Co-occurring tumor suppressor gene (TSG) alterations have been associated with poor outcomes, however, detailed analyses of their impact on patient outcomes are limited. (bvsalud.org)
Protein1
- Chromatin Immunoprecipitation (ChIP)-Sequencing is a method use to analyse protein interactions with DNA. (frontlinegenomics.com)
Effects2
- A Varying Coefficient Model to Jointly Test Genetic and Gene-Environment Interaction Effects. (nih.gov)
- Aspects of brain structure, such as brain volume and white matter integrity, and brain functions, such as cortical activations that occur during information processing, are likely to mediate the effects of genetic risk variants on illness. (universityofgalway.ie)
Immune3
- Moreover, these DEGs may provide insights into the altered immune response to microbiota in the ageing gut, including reduced antigen presentation and alterations in cytokine and chemokine production. (biomedcentral.com)
- Current understanding of the interactions between age-related changes in the gut microbiota and immune function under a genetic perspective, remain poorly explored. (biomedcentral.com)
- Identifying gene makers of immune dysregulation during gut microbiota ageing may contribute to mechanistic insights in preventing age-related alterations of intestinal physiology and associated disease. (biomedcentral.com)
Species1
- A temporal and spatial study of genetic structure in four species of bladed Bangiales (Rhodophyta) from the southeastern Pacific coast of Chile. (sb-roscoff.fr)
Methods1
- GWA studies investigate the entire genome, in contrast to methods that specifically test a small number of pre-specified genetic regions. (wikipedia.org)
Resistance1
- Such systems-level understanding of phage resistance is also highly desirable for phage-bacteria interactions and phage therapy research. (jcbose.ac.in)
Found1
- Our survey found cytogenetically visible chromosomal anomalies in ~7.4% (129/1749) of autistic patients documented as well as several sub-microscopic variants. (neurotransmitter.net)
Risk1
- Any of these may cause alterations in an individual's traits, or phenotype, which can be anything from disease risk to physical properties such as height. (wikipedia.org)
Study2
- One was the advent of biobanks, which are repositories of human genetic material that greatly reduced the cost and difficulty of collecting sufficient numbers of biological specimens for study. (wikipedia.org)
- Insights from a comprehensive study of Trypanosoma cruzi: A new mitochondrial clade restricted to North and Central America and genetic structure of TcI in the region. (cdc.gov)
Structure2
- The impact of Pleistocene glaciations and environmental gradients on the genetic structure of Embothrium coccineum. (sb-roscoff.fr)
- Each human cell contains 23 pairs of homologous chromosomes (corresponding in structure and genetic information, i.e., 23 chromosomes are inherited from each parent). (amboss.com)
Addition1
- In addition, it provides further support for models in which genetic conflicts, such as those caused by meiotic drive alleles, can drive speciation. (elifesciences.org)
Studies1
- GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. (wikipedia.org)
Small1
- A prenatal diagnostic procedure in which a small amount of amniotic fluid is extracted from the amniotic sac surrounding the developing fetus to obtain information about genetic conditions, chromosomal abnormalities and fetal well-being. (frontlinegenomics.com)
Development2
Copy1
- Alteration of gene copy numbers are associated with lung cancer and the determination of copy number variations (CNV) is appropriate for the discrimination between tumor and non-tumor tissue in lung cancer. (bvsalud.org)