Phenotypes biological function of genes. Medical search. Frequent questions

Gene ontology and phenotype-genotype analysis suggested that variants in IGF1 , SYP and LAS1L could plausibly confer risk for ASD. (nature.com)
Despite their commonness in humans, determining which missense variants affect phenotypes and how remains a challenge. (springer.com)
We investigate the functional relevance of de novo missense variants, specifically whether they are likely to disrupt protein interactions, and nominate novel genes in risk for ASD through integrated genomic, transcriptomic, and proteomic analyses. (springer.com)
ADGCs supported in Phase 2 of the initiative will be involved in continued efforts to refine and expand the list, as well as developing a rigorous, data-informed approach for selecting patient variants in allelic series from a subset of NPD risk genes. (nih.gov)
The researchers also identified seven regions of the genome and 18 genes that harbor variants tied to autism, ADHD and Tourette syndrome, most of which were missed in the 2019 analysis. (spectrumnews.org)
The newly identified variants tend to occur in genes that are highly expressed in the brain, the researchers found, including in the hypothalamus and the pituitary and adrenal glands. (spectrumnews.org)
Pathogenic sequence or copy number variants affecting his phenotypes were not identified, indicating that primary epimutation occurred postzygotically. (bmj.com)
Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect common biological pathways. (biomedcentral.com)
We recruit patients with birth defects to discover novel genes and variants using whole exome and genome sequencing. (virginia.edu)
The genetic components most responsible for differences in individual disease risk are thought to be DNA variants (polymorphisms) that influence the expression or function of mediators involved in the pathological processes. (cdc.gov)
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)

Tumor purity-related coexpression factors in the tumor microenvironment have essential clinical, genomic, and biological significance in lung cancer. (hindawi.com)
The complexity of biological systems and the high-dimensionality of (noisy) genomic data and metabolomics data make it technically demanding to infer such mechanisms from data. (boku.ac.at)
Advances in genomic technologies and statistical methods have converged to allow the discovery of susceptibility loci for complex genetic traits, and the field now confronts the enormous challenge to confirm the responsible genes and define their functions in the biology of health and disease. (bcm.edu)
Fourth, cross-modal analysis provides compelling evidence for the transcriptomic, epigenomic and gene regulatory basis of neuronal phenotypes such as their physiological and anatomical properties, demonstrating the biological validity and genomic underpinning of neuron types. (stanford.edu)
Therefore it is not surpris- pansion of biological understanding from the analysis of in- ing that the advent of high-throughput genomic and pro- dividual genes to the analysis of systems of genes (and pro- teomic technologies is drawing a growing interest from the teins). (lu.se)
To cap- lular phenotypes (e.g. disease) on a mechanistic level, and ture the complex network of nonlinear information process- to use genomic signals to classify disease on a molecular ing based upon multivariate inputs from inside and outside level. (lu.se)

The reference ontologies include the Plant Ontology, Plant Trait Ontology and the Plant Experimental Conditions Ontology developed by the Planteome project, along with the Gene Ontology, Chemical Entities of Biological Interest, Phenotype and Attribute Ontology, and others. (oregonstate.edu)
We provide integrated data on plant traits, phenotypes, and gene function and expression from 95 plant taxa, annotated with reference ontology terms. (oregonstate.edu)
To identify functional categories overrepresented in the differentially expressed genes, we used integrated gene-network analysis, gene ontology enrichment and mouse phenotype ontology analysis. (biomedcentral.com)

Overall, our study interlinks the genotype and phenotype relationship concerning polymorphisms in FCN1 and corresponding concentrations and biological functions of M-ficolin. (nih.gov)

For genes encoding the disrupted interactions, we evaluate their expression patterns across developing brains and within specific cell types, using both bulk and inferred cell-type-specific brain transcriptomes. (springer.com)
Finally, we integrate protein interactions and cell-type-specific co-expression networks together with published association data to implicate novel genes in ASD risk in a cell-type-specific manner. (springer.com)
Using inferred gene co-expression for three neuronal cell types-excitatory, inhibitory, and neural progenitor-we implicate several hundred genes in risk (FDR \(\le \hspace{0.17em}\) 0.05), ~ 60% novel, with characteristics of genuine ASD genes. (springer.com)
Their gene expression during brain development and within cell types highlights how they relate to ASD. (springer.com)
Using the newly released and larger ASC dataset, we confirm these observations and take them in several new directions: (1) By defining a set of genes encoding these disrupted protein interactors in ASD subjects and another for their siblings, we evaluate their expression patterns in developing brain from fetal to early postnatal development and within general cell types of brain tissue. (springer.com)
Gene reports include a comprehensive description of function and biological process as well as disease, expression, regulation and phenotype information. (mcw.edu)
Tet proteins regulate gene expression by removing methyl groups from DNA bases. (natureasia.com)
SWCNT-, MWCNT-, crocidolite asbestos (ASB)-, ultrafine carbon black (UFCB)-treated and control SAECs genome expression signatures were subjected to comparative marker and class neighbor analyses to identify genes with highly correlated expression for each treatment. (cdc.gov)
Immunoflourescence images of expression of Nrf2 and HO-1 showing thealteration of key protein markers of antioxidant gene expression, read more in 'Melatonin targets ferroptosis through bimodal alteration of redox environment and cellular pathways in NAFLD model' from Saha et al, in this edition of Bioscience Reports. (portlandpress.com)
Differentially expressed genes (DEGs) were seared by combing the TCGA database and the Gene Expression Omnibus (GEO) database, and the key molecule AKR1B10 was identified by weighted gene coexpression network analysis (WGCNA). (portlandpress.com)
Low AKR1B10 expression induced M2 macrophage polarization and promoted the malignant phenotype of GC. (portlandpress.com)
As such, it is critical to identify and link the functional elements of the genome to their biological expression. (boku.ac.at)
For being able to develop tools and to achieve the above outlined progress multi-disciplinary research is required to create a more holistic picture of agricultural genomics by exploiting the strong relationships between research in plants, animals and microbes in combination with research in gene expression mediated metabolomic processes and modern bio-informatics and statistics. (boku.ac.at)
ABSTRACT: We used a cDNA microarray to profile gene expression in the intertidal mussel Mytilus californianus across major portions of its biogeographic range. (int-res.com)
Overall, the expression pattern for the majority of genes assessed in this study varied significantly as a function of collection site and provides support for the hypothesis that the physiological response to emersion is distinct across populations of M. californianus . (int-res.com)
Gene expression patterns in mussels from Strawberry Hill, Oregon, displayed a unique expression phenotype that was distinct from the other 3 mussel populations sampled. (int-res.com)
Cerebellar and hippocampal tissue samples from three En2 -/- and wild type (WT) littermate mice were assessed for differential gene expression using microarray hybridization followed by RankProd analysis. (biomedcentral.com)
Several studies have analyzed genome-wide expression profiles of ASD patients using lymphoblastoid cell lines and blood samples, supporting upregulation of immune genes and downregulation of neurodevelopmental genes as key players in the pathogenesis of ASD (see [ 8 ] for a review). (biomedcentral.com)
Despite the overall conservation, however, many species-dependent specializations are apparent, including differences in cell-type proportions, gene expression, DNA methylation and chromatin state. (stanford.edu)
We present SRGS, SPLS (sparse partial least squares)-based recursive gene selection, to infer GRNs from bulk or single-cell expression data. (biomedcentral.com)
When dealing with gene expression data with dropouts, we randomly scramble samples, set some values in the expression matrix to zeroes, and generate multiple copies of data through multiple iterations to make SRGS more robust. (biomedcentral.com)
It has been shown that SRGS is competitive with the existing GRN methods and effective in the gene regulatory network inference from bulk or single-cell gene expression data. (biomedcentral.com)
The advent of new methods to obtain large-scale surveys of various mathematical structures, such as systems of differen- gene expression in which transcript levels can be determined tial equations, graphical networks, stochastic functional re- for thousands of genes simultaneously has facilitated the ex- lations, and simulation models. (lu.se)

In FlyBase (the Drosophila genetics database) we have therefore developed a pipeline to obtain such summaries from researchers who have worked extensively on each gene. (stanford.edu)
The goal of looking at all the conditions on this spectrum together is to elucidate the genetics underlying their traits, says lead investigator Peristera Paschou , associate professor of biological sciences at Purdue University in West Lafayette, Indiana. (spectrumnews.org)
The paper, titled "A brief history of human disease genetics," reviews breakthroughs in the association of specific genes with particular disorders, progress mostly driven by advances in technology and analytical approaches. (eurekalert.org)
In addition to the potential for fundamental biological insights, functional dissection of susceptibility genes will be essential to realize the full promise of human genetics for clinical applications. (bcm.edu)
The module is a broad introduction to biological psychology: evolutionary psychology, basic genetics, behavioural genetics, neuropsychology, endocrinology and psychoneuroimmunology, as well as critical perspectives on these fields. (lu.se)

SSPsyGene is designed to provide a collaborative and efficient framework for identifying biological function beyond current small-scale and often ad hoc single gene efforts in order to generate a standardized, experimentally derived, functional catalog of NPD risk genes. (nih.gov)
In particular, this study, published in the journal Neuroscience , revealed that a functional variation in dopamine D2 receptor gene (DRD2 rs1076560) modulates the impact of music as opposed to noise on mood states and emotion-related prefrontal and striatal brain activity, evidencing a differential susceptibility for the affect-modulatory effects of music and noise on the GG and GT genotypes. (eurekalert.org)
Our approach allowed the observation of the link between genes and phenotypes via a true biological path that goes from functional genetic variations (for which the effects on molecular function is known) to brain physiology subtending behavior. (eurekalert.org)
Because the factors in the coexpression network often participate in similar biological processes, we found that CD4, CD53, EVI2B, PLEK, and SASH3 were most related to positive regulation of cytokine production and interleukin−2 production through functional enrichment. (hindawi.com)
In this paper, stochastic functional linear models are developed for temporal association analysis at gene levels to analyze sequence data and longitudinally measured quantitative traits. (intlpress.com)
Methods for identification and functional characterization of major genes with high agronomic value and development of markers for selection. (boku.ac.at)
These findings add yet another functional significance to the invasion phenotype in vivo, and together with the presence of high numbers of extracellular, luminal bacteria, put forward the concept that acute infection of the gallbladder may be important for later events in the bacterial life cycle. (ubc.ca)
eling require a broad range of signal processing approaches, Two salient goals of functional genomics are to screen for including signal representation relevant to transcription and key genes and gene combinations that explain specific cel- system modeling using nonlinear dynamical systems. (lu.se)
The module describes important methods for studying cognitive functions and mental processes (e g reaction times, performance measures) as well as the activity of the brain and functional anatomy (e g lesion and patient data, brain imaging methods). (lu.se)
The pathway from embryogenesis to the full differentiation of specific functional cell types within the pituitary is controlled by numerous genes that encode transcription factors. (medscape.com)
The Protein Structure and Bioinformatics (LU PSB) develops methods and performs analyses to understand biological and medical phenomena at genetic, functional, mechanical and systems level. (lu.se)

The combination of the two offers the opportunity to map gene functions and gene networks in vivo at single-cell resolution using cell tracking and quantification of cellular phenotypes. (nih.gov)
Due to the complexity of living organisms, it is not possible to construct a comprehensive mathematical description of context-specific cellular phenotypes. (unl.edu)

A better understanding of which genes and pathways contribute to each condition may ultimately point to new treatment targets, she says. (spectrumnews.org)
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease. (medscape.com)
Following, inductive signals between the developing diencephalon and the oral ectoderm, early transcription factors guide the formation of rudimentary Rathke's Pouch (rRP) and then subsequent gene regulatory pathways control the determination, proliferation, and differentiation events that establish the specialized hormone-secreting cells. (medscape.com)

However, writing such summaries is a daunting task, given the number of genes in each organism (e.g. 13,929 protein coding genes in Drosophila melanogaster). (stanford.edu)
While the long-term goal of the SSPsyGene Consortium is to build a comprehensively annotated resource describing the CNS function of all neurodevelopmental and psychiatric disorder risk genes, the current target for the initiative is 100-250 protein coding genes. (nih.gov)
The goal of this initiative is to fill a very specific knowledge gap area, which is that many protein-coding genes are now associated with NPD risk, but their basic neurobiology remains poorly understood. (nih.gov)

It is important to remember that natural selection selects only for the phenotype, because many different genotypes can create the same phenotype. (chicagoboyz.net)
While DNA sequencing captures attention in the news, understanding how genotypes impact phenotypes requires that we deeply understand the relationship between sequence, structure, and function. (scienceblogs.com)

The Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) Consortium: Assay and Data Generation Centers (RM1) (RFA-MH-24-145). (nih.gov)
The SSPsyGene Consortium aims to produce a systematic annotation of basic neurobiological function of genes associated with risk for neurodevelopmental and psychiatric disorders (NPDs). (nih.gov)
These genes shed some further light into what causes these neurodevelopmental phenotypes. (spectrumnews.org)

Genes encoding disrupted complementary interactors tend to be risk genes, and an interaction network built from these proteins is enriched for ASD proteins. (springer.com)
nevertheless, recent studies have got exposed a fresh potential function for CAPN3 being a structural proteins (23,24). (exposed-skin-care.net)
Now, the research challenge is to establish how genes and functions of proteins and metabolites bring about changes in phenotype in order to enhance, adapt or seek superiority of the latter. (boku.ac.at)
The phenotype is the actual observable physical characteristics of an organism, such as proteins, eyes, wings etc. (chicagoboyz.net)

Consistent with other studies, genes identified by disrupted protein interactions are expressed early in development and in excitatory and inhibitory neuronal lineages. (springer.com)
Across cell types, these genes affect neuronal morphogenesis and neuronal communication, while neural progenitor cells show strong enrichment for development of the limbic system. (springer.com)
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes. (medscape.com)

Based on the tumor purity and lung carcinoma gene matrix, we performed weighted gene coexpression network analysis (WGCNA), and the tumor purity-related module was identified. (hindawi.com)
In this study, we constructed a tumor purity coexpression network based on weighted gene coexpression network analysis (WGCNA) [ 8 ]. (hindawi.com)

Ontologies provide standardized vocabularies for annotating molecular function, biological process,cellular component, phenotype and disease associations. (mcw.edu)
The Planteome project ( http://www.planteome.org ) provides a suite of reference and species-specific ontologies for plants and annotations to genes and phenotypes. (oregonstate.edu)

We uncovered 17 genes from our ASD cohort in which CHD8 , DYRK1A , GRIN2B , SCN2A , OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. (nature.com)

We genotyped 26 polymorphisms in the FCN1 gene and found 8 of these to be associated with M-ficolin levels in a cohort of 346 blood donors. (nih.gov)
ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)
The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)

Furthermore, we performed direct enrichment analysis of ASD-associated genes from the SFARI repository in our differentially expressed genes. (biomedcentral.com)
Given the limited number of animals used in the study, we used permissive criteria and identified 842 differentially expressed genes in En2 -/- cerebellum and 862 in the En2 -/- hippocampus. (biomedcentral.com)
Furthermore, when directly compared to the repository of the SFARI database, our differentially expressed genes in the hippocampus showed enrichment of ASD-associated genes significantly higher than previously reported. (biomedcentral.com)

This gene has 1 transcript ( splice variant ), 167 orthologues and 1 paralogue . (ensembl.org)
A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. (ensembl.org)
qPCR was performed for representative genes to confirm relative transcript levels compared to those detected in microarrays. (biomedcentral.com)

While it is anticipated that assays should aim to characterize 100-250 genes, some phenotypes and assay formats may be more amenable to moderate scale screening against a subset (50-100) of the gene set. (nih.gov)
Particularly for moderate throughput assays, strategies for selecting a subset of genes from the list should be discussed in the context of the chosen assay(s) or readout(s). (nih.gov)
Biological functions associated with each small gene marker subset for each particle were predictive of the entire genome signature and exposed cell phenotype. (cdc.gov)
A subset of high quality and rare information, retrieved and organized by systematic literature- searching tools from existing databases, and related to a subset of genes functioning together in '-omic' sciences. (genomicglossaries.com)

We use CRISPR/Cas9 to introduce patient mutation in the frog genome to characterize the disease phenotype and identify underlying cell biological function using advanced microscopy and biochemistry techniques. (virginia.edu)

formed intradermally in the upper part pleiotropic phenotypes ( 8 ). (cdc.gov)
These pro- has been implicated as contributing apoptosis, inflammation, and several liferating cel s replace dead cel s to the cancer phenotype, through pleiotropic responses. (who.int)

It provides unique identifiers, names and synonyms, list of complex members with their unique identifiers (UniProt, ChEBI, RNAcentral), function, binding and stoichiometry annotations, descriptions of their topology, assembly structure, ligands and associated diseases as well as cross-references to the same complex in other databases (e.g. (stanford.edu)
Genetic analysis of multiple measures in longitudinal studies provides a valuable opportunity to understand genetic architecture and biological variations of complex diseases. (intlpress.com)
Until recently, our understanding of the genetic causes for human diseases were largely limited to the study of extreme phenotypes produced by Mendelian disorders. (bcm.edu)
The identification of gene regulatory networks (GRNs) facilitates the understanding of the underlying molecular mechanism of various biological processes and complex diseases. (biomedcentral.com)

Sequence reports provide sequence data related to genes, ESTs, and other object types as well as links to reports at NCBI. (mcw.edu)
Epigenetics refer to the study of mechanisms and molecules that can perpetuate alternative gene activity states in the context of unaltered DNA sequence (3). (spandidos-publications.com)

Changes made to an organism's genotype (its genetic constitution) can and usually do cause changes to the organism's phenotype (its observable characteristics). (foodethicscouncil.org)
The United Kingdom's Genetic Technology (Precision Breeding) Act 2023 permits the use of gene-editing as a 'modern biotechnology' to alter the genomes of plants and animals used in agriculture and food production. (foodethicscouncil.org)
Here, we review the arrival of genetic screens in malaria parasites to analyse parasite gene function at a genome-scale and their impact on understanding parasite biology. (portlandpress.com)
Longitudinally measured phenotypes are important for exploring genetic and environmental factors that affect complex traits over time. (intlpress.com)
Computational analysis of biological systems aims to predict cell behavior under different environmental and genetic contexts. (unl.edu)
All cell types of an organism contain the same genetic information, but showcase distinct functions and characteristics (1). (spandidos-publications.com)
The database includes protein-protein , TF-gene , miRNA-gene , and genetic interaction s. (droidb.org)
We further present an extensive genetic toolset for targeting glutamatergic neuron types towards linking their molecular and developmental identity to their circuit function. (stanford.edu)
The constitutional loss of one allele of the Wilms tumor gene ( WT1 ) results in GU anomalies and forms the first of 2 genetic events in the development of a Wilms tumor. (medscape.com)

At birth, some affected newborns may have a minor skeletal phenotype, such as humpback, chest protrusion, and prominent forehead, as confirmed with radiography. (medscape.com)

CRISPR/Cas9 screens, which have revolutionised human and model organism research, have not yet been implemented in malaria parasites due to the need for more complex CRISPR/Cas9 gene targeting vector libraries. (portlandpress.com)
The ability of genes or alleles to affect the representation of the host organism in a biome is an operational definition for the "function" of the gene (in that context). (genomicglossaries.com)
However, with the advent of genome sequencing techniques and the accelerated rate of gene function discovery, the phenotypic landscape of an organism can be determined with the aid of metabolic network reconstructions. (unl.edu)
DroID is a comprehensive gene and protein interactions (interactome) database designed specifically for the model organism Drosophila. (droidb.org)

As opposed to other styles of muscles dystrophy, where mutations take place in genes encoding structural protein, calpainopathy was the initial reported kind of dystrophy predetermined by mutations within a gene encoding a proteolytic enzyme. (exposed-skin-care.net)
Furthermore, the deleterious aftereffect of missense mutations can occur not merely from immediate disruption of CAPN3 function(s), but additionally from disruption from the protein's structural integrity, that could affect its intra or intermolecular protein lead and interactions to decreased stability or altered localization. (exposed-skin-care.net)

It is those who practice, commercialise, militarise and regulate gene-editing that possess moral agency and infuse the science and its application with moral value sets. (foodethicscouncil.org)
Cell phenotypes are determined by mechanisms that regulate which genes are expressed and which are silenced, termed epigenetic mechanisms (2). (spandidos-publications.com)
In the skin, nAChRs regulate the activity of genes involved in the growth and division (proliferation), maturation (differentiation), and survival of cells. (medlineplus.gov)
[ 1 ] The product of the WT1 gene has zinc finger arrays that bind to specific DNA sequences, whereas the amino terminus appears to regulate transcription. (medscape.com)

Loss-of-function mutations in the gene can lead to a stay-green phenotype in plants. (wikipedia.org)
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. (medlineplus.gov)

QTL reports provide phenotype and disease descriptions, mapping, and strain information as well as links to markers and candidate genes. (mcw.edu)

To maximize the potential disease relevance, genes with a genome-wide significant excess burden of loss-of-function mutations in NPDs such as intellectual disability/developmental delay, autism spectrum disorder, and schizophrenia are the focus. (nih.gov)
The deletion of varying lengths of chromosomal material along the short arm of chromosome 11 is the underlying defect, and developmental abnormalities are related to the contiguous loss of neighboring genes. (medscape.com)

Overexpression of ZNF597 may contribute to some of the phenotypes associated with maternal uniparental disomy of chromosome 16 (UPD(16)mat), and some patients with UPD(16)mat presenting with Silver-Russell syndrome (SRS) phenotype have recently been reported. (bmj.com)
Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. (medscape.com)

These coexpression factors (SASH3 and CD53) can be used to classify tumor purity phenotypes and to predict clinical outcomes. (hindawi.com)

The results show that olf413 mutants display a severe phenotype in feeding behaviour and there is an allele specific phenotypic distinction between the two strains. (who.int)
Thus implying that olf413 gene function is required for taste recognition, starvation driven initiation and execution of feeding behaviour of the flies. (who.int)

Brief summaries describing the function of each gene's product are of great value to the research community, especially when interpreting genome-wide studies that reveal changes to hundreds of genes. (stanford.edu)

The arrangement of methyl chemical groups on the cytosine base in DNA (known as "cytosine methylation"), which specifies when genes are to be turned on or off, are one form of epigenomic regulation that may highly influence disease and health in the brain. (neurosciencenews.com)
New systems processing of numerous and different kinds of signals, math- must capture the specific biological mechanisms of opera- ematical and computational methods are required to model tion and distributed regulation at work within the genome. (lu.se)

The characterization of the diversity of species living within ecosystems is of major scientific interest to understand the functioning of these ecosystems. (intechopen.com)

In vitro model for identifying subchronic carbon nanotube exposure and lung cancer gene markers. (cdc.gov)
Here, we use our subchronic in vitro exposure model coupled with toxicogenomic profiling and correlation feature selection strategies to identify particle-specific, key gene markers from our CNT-transformed cell lines. (cdc.gov)
Toxicogenomic signature profiling in a subchronic in vitro exposure model identified particle-specific gene markers which can potentially aid in assessing detection of early onset of CNT pulmonary disease. (cdc.gov)

Using GSEA analysis, we found that the antigen processing and presentation pathway were related to the five tumor coexpressed genes mentioned above. (hindawi.com)

In our study we have used olf413 gene disruption strain, olf413MI02014 homozygous and in transheterozygous condition with another allele isolated in our lab, olf413SG1.1. (who.int)
The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against cardiovascular disease. (who.int)

Genome imprinting is an epigenetic marking mechanism that causes genes to be expressed in a parental-origin-specific manner. (bmj.com)
A prime example is cancer, where deregulation of epigenetic mechanisms can lead to oncogene activation or tumor suppressor gene inactivation, allowing cells to acquire characteristics that are hallmarks of cancer ( 9 , 10 ). (spandidos-publications.com)

Here we present Digital Development (http://www.digital-development.org), a database of cell lineage differentiation with curated phenotypes, cell-specific gene functions and a multiscale model. (nih.gov)
The database stores data from recent systematic studies of cell lineage differentiation in the C. elegans embryo containing ∼ 200 conserved genes, 1400 perturbed cell lineages and 600,000 digitized single cells. (nih.gov)
This information includes lineage differentiation phenotypes, cell-specific gene functions, differentiation landscapes and fate choices, and a multiscale model of lineage differentiation. (nih.gov)
As a broad host range pathogen, M. phaseolina possesses a large number of pathogen-host interaction genes including those for adhesion, signal transduction, cell wall breakdown, purine biosynthesis, and potent mycotoxin patulin. (biomedcentral.com)
Genes interact and work as gene modules to perform cell functions. (biomedcentral.com)
The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)
Radiation can disrupt the structure of the DNA (and other macromolecules), thereby disrupting normal cell and organ functions. (cdc.gov)

pendent of those associated with cretory ducts, columnar epithelia the KRAS gene is more frequent- other key mechanistic characteris- lining the gastrointestinal tract and ly mutated in human cancer, which tics of IARC Group 1 carcinogens. (who.int)

The ∼30 Mb genomes of the Plasmodium parasites that cause malaria each encode ∼5000 genes, but the functions of the majority remain unknown. (portlandpress.com)

Significantly, changes to the structure and function of an organism's genome undertaken by means of gene-editing can be heritable. (foodethicscouncil.org)

Biomes are distinct biological communities that have formed in response to a shared physical climate. (genomicglossaries.com)

Disrupted protein interactions identify gene sets involved in risk for ASD. (springer.com)
You will then be able to search for interactions involving your genes. (droidb.org)

The genotype is the actual genes that code for those physical characteristics and pass them along to the next generation. (chicagoboyz.net)
The key characteristics of epigenetics have generated immense research interest for possible applications in various biological fields. (spandidos-publications.com)

This enzyme regulates the electrochemical gradient of these ions in cells, and plays a central role in osmoregulation and signal transmission in nerves and muscles, among other biological processes. (nih.gov)
At present, the biological processes related to the purity of lung cancer tumors remains unclear. (hindawi.com)

Allows searching across genes, QTLs, strains and provides a basis for cross-species comparisons. (mcw.edu)

It is the purpose of this article to outline for the benefit of discussion some of the moral issues that gene-editing occasions and to establish the necessity of an ethical lens as the means by which moral judgements about gene-editing ought to be made. (foodethicscouncil.org)

Mutations in these genes are causes of congenital hypopituitarism and have specific pituitary hormone deficiencies associated with the involved gene. (medscape.com)

In a clinical phenotype analysis, we found that these five factors can be used as independent prognostic risk factors. (hindawi.com)
Chimienti F, Hogg RC, Plantard L, Lehmann C, Brakch N, Fischer J, Huber M, Bertrand D, Hohl D. Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. (medlineplus.gov)
Advanced biological ageing predicts future risk for neurological diagnoses and clinical examination findings. (medscape.com)

Furthermore, the adaptation of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR-Associated protein 9 (CRISPR/Cas9) technology has dramatically improved gene editing efficiency at the single gene level. (portlandpress.com)
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)

There is not the intention here to enter into a detailed ethical analysis of gene-editing applied to specific cases. (foodethicscouncil.org)
The study of biological complexity is a new frontier that requires high-throughput molecular technology, high speed computer memory, new approaches to data analysis, and the integration of interdisciplinary skills. (intechopen.com)

The resulting phenotypic data will be integrated across modalities, levels of organization, and genes to create a harmonized, integrated knowledge base needed to substantively advance our understanding of basic gene function and, ultimately, make robust inferences into potential shared and unique disease mechanisms. (nih.gov)
Here, we present robust SWCNT-, MWCNT-, ASB- and UFCB-induced specific gene marker sets for in vitro chronically exposed lung epithelial cells. (cdc.gov)
In addition, the proposed methods are robust when the correlation function is mis-specified. (intlpress.com)

Furthermore, the module deals with basic neuro-anatomy, cellular function, neural communication, the development and change of the brain, gender development (biological and social), sex, sleep, the workings of the psychoendocrine system, and the interaction of brain and immune system. (lu.se)
The module provides student with knowledge of the neuro-cognitive foundations of emotion, social communication and understanding, and of how the influence of cognitive control functions can contribute in social interaction. (lu.se)

Anatomy21

Organisms19

Diseases5

Chemicals and Drugs49

Analytical, Diagnostic and Therapeutic Techniques and Equipment49

Phenomena and Processes100

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena1

Information Science13

Health Care6

Variants12

Genomic6

Ontology3

Genotype and pheno1

Expression23

Genetics5

Functional11

Cellular phenotypes2

Pathways3

Protein codin3

Genotypes2

Neurodevelopmental3

Proteins4

Neuronal3

Weighted gene coexpression network analysis2

Ontologies2

Risk genes1

Polymorphisms3

Differentially3

Transcript3

Subset4

Characterize1

Pleiotropic2

Diseases4

Sequence2

Genetic9

Skeletal1

Organism4

Structural2

Regulate4

Mutations in the gene2

Candidate genes1

Developmental2

Chromosome2

Classify1

Feeding behaviour2

Genome-wide1

Regulation2

Characterization1

Markers3

Pathway1

Allele2

Epigenetic2

Cell7

Mechanistic1

Encode1

Significantly1

Distinct1

Interactions2

Characteristics2

Processes2

Strains1

Establish1

Congenital1

Clinical3

Single gene2

Analysis2

Robust3

Interaction2