Pathways gene components. Medical search. Frequent questions

Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. (nih.gov)
Mutations in this gene lead to tissue overgrowth, or a "hippopotamus"-like phenotype. (wikipedia.org)
Concurrent mutations in REL genes also compromise flower development and result in radial symmetric floral organs. (elsevierpure.com)
Several mutations in the AKT3 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. (medlineplus.gov)
Megalencephaly without the other features of MPPH syndrome (described above) has been associated with gain-of-function AKT3 gene mutations or extra copies (duplication) of the region of chromosome 1 containing the AKT3 gene. (medlineplus.gov)
Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. (springer.com)
Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED. (springer.com)
HED embraces a genetically heterogeneous group of diseases and is due to mutations of several genes that encode components of the tumor necrosis factor α (TNFα)-related signaling pathway (Cluzeau et al. (springer.com)
The purpose of this report is to review current literature on the structure and function of components of the TNFα-related signaling pathway, to present a novel approach to their contribution in the differentiation of skin appendages and to discuss the role of mutations of genes encoding components of this pathway in the origin of HED. (springer.com)
Mutations of these genes are responsible for systemic tooth agenesis, in addition to the defects of other ectodermal structures, and this review is limited to description of the function of their protein products. (springer.com)
The molecular basis of non-syndromic tooth agenesis, which is caused by mutations of other genes mainly WNT10A , (Arte et al. (springer.com)
Mutations in the nvasive aspergillosis in immunosuppressed patients is open reading frame of the cyp51A gene can result in struc- difficult to diagnose, is problematic to treat, and results tural alterations to the enzyme, which in turn may inhibit in a high mortality rate ( 1 ). (cdc.gov)
Clinical or epidemiologic breakpoints/cutoffs have not cross-resistance pattern, identified mutations in the cyp51A been declared by the Clinical and Laboratory Standards In- gene, and investigated any epidemiologic links between re- stitute (CLSI) or EUCAST for azoles and Aspergillus spp. (cdc.gov)
Like the mutations in the other known short sleep genes, this mutation is exceedingly rare, occurring in fewer than one in 4 million people. (eurekalert.org)
Vectibix' approval in mCRC was based in no small part on retrospective analysis of clinical trial data indicating that only patients with the wild-type KRAS gene, that is, without mutations in the gene, could respond to Vectibix. (genengnews.com)
Abnormal eye color arises due to mutations in genes that regulate pigment formation and a specific metabolic pathway. (mpg.de)
Importantly, mutations in one of these genes, GBA, are recognized as the strongest genetic risk factors for developing Parkinson's. (sciencedaily.com)
Here, we describe a new technique for continuous evolution of genes, synthetic parts, and pathways in yeast whereby mutations are created in vivo . (aiche.org)
Mutations in this gene predispose humans to breast and ovarian cancer. (bvsalud.org)

In this study, differentially expressed genes (DEGs) under drought and flooding conditions were investigated using Illumina RNA-Seq transcriptome profiling. (frontiersin.org)
No differentially expressed genes (DEG) in either the PLC or THY were identified in UNINF, PLCO-VIA, and PLCO-MEC when compared to CTRL fetuses. (usda.gov)
Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were performed on differentially expressed genes (DEGs). (spandidos-publications.com)

A possible pathway that contributes to the postnatal development of the sclera was investigated using Ingenuity Pathway Analysis software. (molvis.org)
Whole blood cells, aorta and lung were harvested for global gene expression analysis with subsequent Ingenuity Pathway Analysis and confirmatory qRT-PCR. (cdc.gov)

Thus, the delineation of the pathway in Drosophila has helped to identify many genes that function as oncogenes or tumor suppressors in mammals. (wikipedia.org)
Despite variable phenotypic expressions of a predominant tumor in BSS, the gene responsible for multiple cylindromas, CYLD , is localized to band 16q12-q13. (medscape.com)
We assessed their associations with tumor type and survival in comparison with the previous generation of molecular pathway biomarkers (3022 "classical" pathways) and with the RNA transcripts or proteomic profiles of individual genes, for 8141 and 1117 samples, respectively. (researchgate.net)
FUT6 and CGNL1 were downregulated in HNSCC compared with adjacent healthy tissue and the expression levels of these genes were associated with tumor stage. (spandidos-publications.com)
The PI3K/AKT signalling pathway is crucial for tumor cell survival. (senescence.info)
RNA-seq was performed to detect the gene changes involving tumor-promoting signaling pathway. (bvsalud.org)

Here we outline the current status of the viral evasion mechanism underlying the regulation of the cGAS-STING pathway, focusing on how post-transcriptional modifications, viral proteins, and non-coding RNAs involve innate immunity during viral infection, attempting to inspire new targets discovery and uncover potential clinical antiviral treatments. (frontiersin.org)
The models of most immune evasion during innate immune responses are conserved, including altering the post-transcriptional modifications (PTMs) of vital proteins to inactivate or degrade these components, eluding DNA sensing from PRRs, decreasing cyclic GMP-AMP (cGAMP) cellular abundance, and modifying metabolism approach in host cells ( Eaglesham and Kranzusch, 2020 ). (frontiersin.org)
In this review we discuss the current understanding of the signaling mechanisms used by TGF-beta to elicit its effects on target genes, focusing primarily on Smad proteins and their role in the transcriptional regulation of ECM gene expression. (nih.gov)
Within the last 10 years significant progress has been made in understanding the pathogenesis of HED and this is mainly due to the discovery of unknown proteins and the elucidation of their function in signal transduction via the TNFα-related pathway. (springer.com)
When it's activated, it switches on other proteins in the same pathway by attaching a chemical modification to them. (eurekalert.org)
The Wnt signaling pathway creates a complex network of proteins that have different effects on cells, so they can be involved in many cancers, including gliomas. (researchsquare.com)
The Wnt signaling pathway creates a complex network of proteins that have different effects on cells. (researchsquare.com)
If this pathway is inactive, β-catenin levels will be kept lower by a set of proteins. (researchsquare.com)
And the LEF / TCF family transcription factor, along with other proteins, binds to DNA and inhibits gene expression. (researchsquare.com)
These pathways are responsible for clearing out old and damaged proteins and other cellular components, and have been previously linked to neurodegenerative diseases. (sciencedaily.com)
AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. (senescence.info)
Human cognitive ability is influenced by genetic variation in components of postsynaptic signalling complexes assembled by NMDA receptors and MAGUK proteins. (uib.no)
A component is usually a single protein in a given organism, but multiple proteins can sometimes play the same role. (systems-biology.org)
Defined proteins and metal ions, such as insulin, growth factors, transferrin and sodium selenite, are sometimes also included and can in some cases substitute serum components. (lu.se)

Four ethylene receptors genes ( AcERS1b , AcERS1b , AcETR2a , and AcETR2b ) have been cloned, and expression analysis showed that AcERS1b , AcETR2a , and AcETR2b play key roles in pineapple flowering 13 . (nature.com)
Transforming growth factor-beta (TGF-beta) plays a critical role in the regulation of extracellular matrix gene expression. (nih.gov)
This review focuses primarily on the mechanisms underlying Smad modulation of gene expression and how they relate to wound healing. (nih.gov)
This allows for the expression of several genes that promote organ growth, such as cyclin E, which promotes cell cycle progression, and diap1 (Drosophila inhibitor of apoptosis protein-1), which, as its name suggests, prevents apoptosis. (wikipedia.org)
These observations, together with the expression and functional data, demonstrated that the ta-siRNA pathway plays conserved yet distinct roles in the control of compound leaf and flower development in L. japonicus. (elsevierpure.com)
The gene expression of Ppargc1a varied during scleral growth from week 1 to 2, week 2 to 3, week 3 to 6, and week 6 to 8 and was found to interact with a different set of genes at different scleral growth stages. (molvis.org)
Gene expression of eye diseases should be studied as early as postnatal weeks 1-2 to ensure that any changes in gene expression pattern during disease development are detected. (molvis.org)
It was suggested that Tgfβ1 could possibly act as a signaling molecule in controlling collagen gene expression and modulate ECM during ocular growth. (molvis.org)
therefore, it is imperative to assess the expression of genes involved in response to flood and drought stress. (frontiersin.org)
The expression of photosynthesis and chlorophyll synthesis related genes were significantly reduced under both types of stresses, which limit the metabolic processes and thus help prolong survival under extreme conditions. (frontiersin.org)
The changes in expression of genes involved in regulating the flux of cell wall precursors and starch/sugar content can serve as an adaptive mechanism for soybean survival under stress conditions. (frontiersin.org)
Using Gaussian graphical models we propose a novel approach to perform pathway analysis using gene expression. (belnet.be)
The downstream signal transduction toward Eda-A1 involves the canonical Wnt/β-catenin pathway (Clevers 2006 ) and requires lymphoid enhancer-binding factor-1 (Lef-1) for activation of the Ed1 ( Ta ) expression (Durmowicz et al. (springer.com)
Besides, the Western blot showed that miR-429 could affect the activity of GSK-3 β / β -catenin pathway via inhibiting the expression of SNAI2. (hindawi.com)
Gene expression data were normalized with DESeq2 [40], and PAL values were calculated for gene-centric pathways using R [41] . (researchgate.net)
Individual gene expression and molecular pathway activation profiles were shown to be effective biomarkers in many cancers. (researchgate.net)
Therefore, we investigated the combined effect of Temozolomide (TMZ) and KC7F2 on cell survival and changes in gene expression in the Wnt signal pathway. (researchsquare.com)
Also, Quantitative RT-PCR was used to evaluate the mRNA expression level of genes related to the Wnt signal pathway in treated cancer cells and control groups. (researchsquare.com)
The activated RR can then effect changes in cellular physiology, often by regulating gene expression. (genome.jp)
By assessing targeted immune-related gene expression patterns and pathways in the placenta and fetal thymus we were able to elucidate molecular mechanisms involved in the resistance/tolerance and susceptibility of fetuses to PRRSV infection. (usda.gov)
Gene expression in the thymus revealed strong downregulation of critical immune pathways associated with high viral load. (usda.gov)
Gene expression in the placenta differentiated fetal demise. (usda.gov)
MicroRNAs (miRNAs or miRs) are involved in the post-transcriptional regulation of gene expression via complete or partial base pairing with the 3′untranslated region of target genes ( 3 ). (spandidos-publications.com)
This study explores the use of a simple human neurosphere-based in vitro model to characterise the pharmacological and toxicological effects of LiCl and VPA using gene expression changes linked to phenotypic alterations in cells. (plos.org)
Treatment with VPA and LiCl resulted in the differential expression of 331 and 164 genes respectively. (plos.org)
In addition, in order to phenotypically anchor the gene expression data, changes in the heterogeneity of cell subtype populations and cell cycle phase were monitored using flow cytometry. (plos.org)
Transcriptional silencing of transposons by Piwi and maelstrom and its impact on chromatin state and gene expression. (oeaw.ac.at)
We recently reported a procedure for inferring gene-regulatory network models by integrating gene-expression profiles with high-throughput measurements of protein interactions [ 18 ]. (biomedcentral.com)
The new data support two out of three novel regulatory pathways predicted to mediate expression changes downstream of the yeast transcriptional regulator SWI4 . (biomedcentral.com)
A curated database of genes associated with dietary restriction in model organisms either from genetic manipulation experiments or gene expression profiling. (senescence.info)
Projects focused on gene expression profiling of ageing and of dietary manipulations of ageing, such as caloric restriction. (senescence.info)
Relative levels of gene expression throughout development were determined by quantitative polymerase chain reaction (PCR) analysis and in cases where sufficient specific gene sequence was acquired, ribonucleic acid (RNA) probes were generated to evaluate the spatial expression patterns during the period of organogenesis. (europa.eu)
Spatial expression analysis of both genes revealed that Sof-RXR is expressed ubiquitously in all cells of the embryo, including the chondrocytes, whereas Sof-ALDH was expressed only in a sub-set of epithelial cells and no expression at the level of chondrocytes was observed. (europa.eu)
Loss of Tada2b or Taf5l inhibited hematopoiesis in vivo and was associated with upregulation of interferon response gene expression. (biorxiv.org)
Pathway diagrams are interactive and include tools for visualizing gene expression data in the context of the diagrams. (systems-biology.org)
Materials and Methods: We have adapted the Burkitt's lymphoma line Ramos to a serum-free medium that supports long-term survival and studied gene expression changes that occurred during the adaptation process. (lu.se)
Affymetrix micro-array technology was used to identify gene expression alterations that had occurred during the adaptation. (lu.se)
Most changes were subtle, but frequently the genes with altered expression were involved in basal cellular functions such as cell division, cell cycle regulation, apoptosis and cell signalling. (lu.se)
Some alterations were restored when the cells were transferred back to serum-containing medium, indicating that expression of these genes was controlled by components in serum. (lu.se)
Total RNA from tumors the expression of thousands of genes (3) to address complex questions was isolated using two successive rounds of Trizol. (lu.se)
Altered gene expression and PTSD symptom dimensions in World Trade Center responders. (cdc.gov)
Analysis of gene expression from these individuals can help in identifying biomarkers of PTSD. (cdc.gov)
Using bulk RNA-sequencing from whole blood, we examined the association between gene expression and WTC-related PTSD symptom severity on (i) highest lifetime Clinician-Administered PTSD Scale (CAPS) score, (ii) past-month CAPS score, and (iii) PTSD symptom dimensions using a 5-factor model of re-experiencing, avoidance, emotional numbing, dysphoric arousal and anxious arousal symptoms. (cdc.gov)
We will use genetic tools to knock out genes and study the response of these mutants to touch stimulation in comparison to WT with regards to gene expression, phosphorylation cascades and alteration in growth and development. (lu.se)

Researchers at the Center for Cell-Based Therapy (CTC) in Ribeirão Preto, São Paulo State, have now investigated the functioning of 31 miRNAs observed in human ESCs and identified signaling pathways involved in both pluripotency and differentiation. (eurekalert.org)

The BRAF oncogene is an integral component of the MAP kinase pathway, and an activating V600E mutation occurs in 15% of sporadic colorectal cancer. (hindawi.com)
The BRAF V600E mutation occurs early in tumourigenesis and is highly correlated with the serrated neoplasia pathway of colorectal cancer. (hindawi.com)
This latter pathway involves the previously well-defined series of genetic aberrations such as APC mutation and chromosomal instability and accounts for the majority of colorectal cancer [ 12 ]. (hindawi.com)
By sequence analysis, Zhang et al identified a recurrent mutation 2272C→T (R758X) of the CYLD gene in the affected familial persons that had been previously identified in other ethnic kindreds with familial cylindromatosis. (medscape.com)
The researchers performed gene sequencing on both father and son, and zeroed in on a single-letter mutation in a gene called NPSR1, which encodes a signaling protein that sits on the surface of neurons and was previously shown to be involved in regulating sleep. (eurekalert.org)
The availability of an unassailable predictive biomarker for treatment of colorectal cancer patients with Vectibix and Erbitux has made testing for a specific gene mutation a treatment prerequisite. (genengnews.com)
Fly eyes with different colors ranging from normal (left, red) to abnormal (bright red, middle, mutation in the cinnabar gene), and white, right (mutation in the white gene). (mpg.de)

While most of the Hippo pathway components were identified in the fruit fly (Drosophila melanogaster) using mosaic genetic screens, orthologs to these components (genes that are related through speciation events and thus tend to retain the same function in different species) have subsequently been found in mammals. (wikipedia.org)
The Hippo pathway consists of a core kinase cascade in which Hpo phosphorylates (Drosophila) the protein kinase Warts (Wts). (wikipedia.org)
Mutants in the gene encoding the InsP 3 R ( itpr ) in Drosophila exhibit a range of defects including altered wing posture, increased spontaneous firing, and loss of rhythmic flight patterns in response to an air puff stimulus. (jneurosci.org)
They studied the classic Drosophila genes cinnabar, cardinal, white, and scarlet, originally characterized decades ago and named due to their role in eye color pigmentation, in particular the formation of the brown pigment of the fly eye. (mpg.de)
Drosophila Gtsf1 is an essential component of the Piwi-mediated transcriptional silencing complex. (oeaw.ac.at)
The genetic makeup of the Drosophila piRNA pathway. (oeaw.ac.at)

Other signaling mechanisms, such as the MAP/SAP kinase or Ras pathways, although potentially important for transmission of some of the TGF-beta signals, will not be described. (nih.gov)
It is an integral component of the MAP (mitogen-activated protein) kinase cascade. (hindawi.com)
The pathway takes its name from one of its key signaling components-the protein kinase Hippo (Hpo). (wikipedia.org)
The enzyme removes Lys-63-linked ubiquitin chains from I-kappaB kinase signaling components. (medscape.com)
Each two-component system consists of a sensor protein-histidine kinase (HK) and a response regulator (RR). (genome.jp)
CNTNAP2, NPAS3 and NFIB) as well as canonical pathways of synaptic long term depression and protein kinase A signaling. (imsc.res.in)
This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. (senescence.info)
AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. (senescence.info)

Among these were, for example, several genes within the Wnt signalling pathway. (lu.se)
Several genes significantly associated with multiple PTSD symptom dimensions and total lifetime CAPS score (SERPINA1, RPS6KA1, and STAT3) have been previously associated with PTSD. (cdc.gov)

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. (medlineplus.gov)
pathwayPCA allows users to: (1) Test pathway association with binary, continuous, or survival phenotypes. (bioconductor.org)
Future studies should be clear about methods used to analyze PTSD status, as phenotypes based on PTSD symptom dimensions may yield different gene sets than combined CAPS score analysis. (cdc.gov)

Metabolic pathways consist of a series of biochemical reactions in cells that convert a starting component into other products. (mpg.de)
There is growing evidence that metabolic pathways coupled with external stress factors influence the health of cells and tissues. (mpg.de)
Many human diseases, including retinal or neurodegenerative diseases, are associated with imbalances in metabolic pathways. (mpg.de)
Pathways are drawn using CellDesigner software, capturing molecular level events in both signaling and metabolic pathways, and can be exported in SBML format. (systems-biology.org)

Also, a canonical pathway indicated a coordinated response of multiple PRR and associated signaling molecules (Tlr7, Tlr2, Clec7a, Nlrp3, Myd88) to inhalation of GMA-SS. (cdc.gov)

Gene ontology (GO) term enrichment analysis was used to highlight the most relevant GO terms associated with a given gene list following toxin exposure. (plos.org)
The Reactome project is a collaboration among Cold Spring Harbor Laboratory , The European Bioinformatics Institute , and The Gene Ontology Consortium to develop a curated resource of core pathways and reactions in human biology. (systems-biology.org)

This may affect several targets of a signaling pathway and have a wide-ranging biological effect," Panepucci explained. (eurekalert.org)
The Kynurenine pathway is an evolutionary conserved metabolic pathway that regulates a variety of biological processes. (mpg.de)
The information in this database is authored by biological researchers with expertise in their fields, maintained by the Reactome editorial staff, and cross-referenced with the sequence databases at NCBI , Ensembl and UniProt, the UCSC Genome Browser , HapMap, KEGG ( Gene and Compound), ChEBI , PubMed and GO . (systems-biology.org)
The distinction in significant genes between total lifetime CAPS score and the anxious arousal symptom dimension of PTSD highlights a potential biological difference in the mechanism underlying the heterogeneity of the PTSD phenotype. (cdc.gov)
Biological process and signaling pathways potentially regulated by YHJD were evaluated by DAVID database. (bvsalud.org)

Telomerase RNA TERC and the PI3K-AKT pathway form a positive feedback loop to regulate cell proliferation independent of telomerase activity. (nih.gov)
The AKT3 protein is a key regulator of a chemical signaling pathway called the PI3K-AKT-mTOR pathway. (medlineplus.gov)
The PI3K-AKT-mTOR pathway is essential for the normal development of many parts of the body, including the brain. (medlineplus.gov)
This enhanced activity increases chemical signaling through the PI3K-AKT-mTOR pathway, which causes excessive cell growth and division. (medlineplus.gov)
These genetic changes increase the amount or activity of the AKT3 protein, which enhances chemical signaling through the PI3K-AKT-mTOR pathway and causes excessive cell growth and division, particularly in the brain. (medlineplus.gov)
The resulting reduction in AKT3 protein activity likely decreases signaling through the PI3K-AKT-mTOR pathway and restricts cell growth and division in the developing brain. (medlineplus.gov)

Positional cloning revealed that REL1 and REL3 encode the homologs of Arabidopsis (Arabidopsis thaliana) SUPPRESSOR OF GENE SILENCING3 and ARGONAUTE7/ZIPPY, respectively, which are key components of the ta-siRNA pathway. (elsevierpure.com)
These genes encode components of the kynurenine pathway, whose activity converts the amino acid tryptophan by various steps into other products. (mpg.de)

Alterations in DNA methylation, lncRNAs and multiple genes may be involved in the regulation of FTLs . (nature.com)
Regulation of production and turnover of ECM components is essential for tissue homeostasis and function. (nih.gov)
The Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway, is a signaling pathway that controls organ size in animals through the regulation of cell proliferation and apoptosis. (wikipedia.org)
Moreover, the phenotypic alterations of lateral organs in ta-siRNA-deficient mutants and the regulation of downstream targets by the ta-siRNA pathway in L. japonicus were similar to those in the monocots but different from Arabidopsis, indicating many parallels between L. japonicus and the monocots in the control of lateral organ development by the ta-siRNA pathway. (elsevierpure.com)
and regulation of complement activation, alternative pathway. (jax.org)
As genome-scale measurements lead to increasingly complex models of gene regulation, systematic approaches are needed to validate and refine these models. (biomedcentral.com)
Novel findings from a team led by Van Andel Research Institute (VARI) Professor Gerd Pfeifer, Ph.D., implicate certain epigenetic modifications -- marks on the DNA that affect gene regulation without changing the genetic code -- in the development of some neurodegenerative diseases. (sciencedaily.com)
Continued studies focused on genes showing minimal changes in the TMA-induced model but with clear up-regulation in the ovalbumin model. (cdc.gov)

To understand the molecular events in the FGF1 release pathway, we studied the FGF1-S100A13 tetrameric and FGF1-S100A13-C2A hexameric complex structures, which are both complexes possibly formed during the non-classical pathway of FGF1 release. (rcsb.org)
BRAF mutant/MSS cancers form a distinct colorectal cancer entity that shares clinical and molecular features with both BRAF mutant/MSI serrated pathway cancers and the BRAF wild-type cancers of the conventional pathway [ 9 - 11 ]. (hindawi.com)
Here, we used the human interactome model to algorithmically build 7470 molecular pathways centered around individual gene products. (researchgate.net)
Elisabeth Knust leads a team of researchers from the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany, who describe an essential role for one such metabolic pathway in maintaining retinal health under conditions of stress. (mpg.de)
Knowledge on this important metabolic pathway was recently extended by the research team, led by Elisabeth Knust, Director Emerita at the Max Planck Institute of Molecular Cell Biology and Genetics , in their publication. (mpg.de)
Since route of allergen exposure can influence mechanistic pathways, mice were sensitized by identical routes with a high molecular weight occupational allergen ovalbumin and a low molecular weight occupational allergen trimellitic anhydride (TMA). (cdc.gov)
Molecular paThwayS criTical for cancer developMenT and progreSSion, ThuS enhancing The evidence baSe direcTly relevanT To STudieS of cancer cauSaTion and prevenTion. (who.int)
This is achieved through mechanistic studies of functionally important epigenetic "driver" genes and molecular pathways altered by specific cancer risk agents and by the application of cutting-edge epigenomics in conjunction with unique biospecimens from population-based cohorts (Figure 1). (who.int)

Researchers have noted an MYB-NFIB gene fusion, which provides a new genetic link between dermal cylindroma and adenoid cystic carcinoma. (medscape.com)
Other genetic changes involving the AKT3 gene are associated with an unusually small brain and head size (microcephaly). (medlineplus.gov)
Like the genetic changes that cause MPPH syndrome and megalencephaly (described above), the AKT3 gene changes that result in isolated hemimegalencephaly are gain-of-function, ultimately leading to increased cell growth and division in the developing brain. (medlineplus.gov)
Towards this goal, we describe an automated procedure for prioritizing genetic perturbations in order to discriminate optimally between alternative models of a gene-regulatory network. (biomedcentral.com)

Panoramix SUMOylation on chromatin connects the piRNA pathway to the cellular heterochromatin machinery. (oeaw.ac.at)
Database of human genes associated with cellular senescence. (senescence.info)
The Database of Quantitative Cellular Signalling (DOQCS) is a repository of models of signalling pathways present in the neurons. (systems-biology.org)
Geneset enrichment of these findings has identified pathways significant in metabolism, immune signaling, other psychiatric disorders, neurological signaling, and cellular structure. (cdc.gov)

Importantly, multiple genomic innovations including gene losses, independent contraction and expansion of specific gene families and their associated regulatory networks likely moulded the evolution of the nautilus pinhole eye. (nature.com)
Using this procedure, we evaluate 38 candidate regulatory networks in yeast and perform four high-priority gene knockout experiments. (biomedcentral.com)
Recent advances in genomics and computational biology are enabling construction of large-scale models of gene-regulatory networks. (biomedcentral.com)
These data have spawned a variety of methods to infer the structure of gene-regulatory networks or to study their high-level properties, as recently reviewed [ 5 ]. (biomedcentral.com)
First, we use the previously described modeling procedure to generate a library of models corresponding to different gene-regulatory systems in yeast. (biomedcentral.com)
Each of these applications typically involves a directed evolution approach in order to optimize individual components such as enzymes and regulatory factors. (aiche.org)

Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. (senescence.info)

No association of primary Sjögren's syndrome with Fcγ receptor gene variants. (uib.no)
Interestingly, the researchers identified a number of very rare variants in the COL25A1 gene of 10 individuals who were part of the Wellderly study. (medicalnewstoday.com)
Those gene variants might offer a pathway for the development of new treatments for Alzheimer's," notes Torkamani. (medicalnewstoday.com)

Different statistical methods with varying selection criteria resulted in identification of similar candidate genes. (cdc.gov)
Array data are intended to provide candidate genes for hypothesis generation and further experimentation. (cdc.gov)
Array studies provide candidate genes to identify common mechanistic pathways in the effector phase, as well as mechanistic pathways unique to individual allergens. (cdc.gov)

6 ], the transforming growth factor beta 1 ( Tgfβ1 ) gene and several collagen genes were significantly downregulated in 8-week-old B6 mice scleras when compared with 3-week-old B6 mice scleras. (molvis.org)
People didn't think that genes could significantly influence sleep behaviors, and big breakthroughs were rare. (eurekalert.org)
These results demonstrate the capacity of ICE to significantly accelerate strain engineering efforts and enable advanced studies of gene evolution in eukaryotes. (aiche.org)
We identified 66 genes significantly associated with total highest lifetime CAPS score (FDR-corrected p (cdc.gov)
In particular, we identified 82 genes significantly associated with lifetime anxious arousal symptoms. (cdc.gov)

This workflow retrieves the pathways that are associated with given Kegg gene identifiers. (myexperiment.org)
All SBML files in this directory were converted from KEGG (Kyoto Encyclopedia on Genes and Genomes) by using our conversion script kegg2sbml with the permission of Professor Minoru Kanehisa (Kyoto University). (systems-biology.org)

The Hippo signaling pathway appears to be highly conserved. (wikipedia.org)
The absence of genomic resources renders the search for paralogous cuttlefish genes dependent upon the presence of highly conserved protein motifs within genes of interest, thus we used a degenerate primer strategy to isolate partial coding sequence from the conserved domains specific to these families. (europa.eu)

Ten years ago, when we identified the first short sleep gene , the field of sleep genetics was in its infancy. (eurekalert.org)

The UCSF scientists who identified the two known human genes that promote "natural short sleep" -- nightly sleep that lasts just four to six hours but leaves people feeling well-rested -- have now discovered a third, and it's also the first gene that's ever been shown to prevent the memory deficits that normally accompany sleep deprivation. (eurekalert.org)

MATERIALS AND METHODS: The active ingredients and target genes of YHJD was examined through TCMSP databases. (bvsalud.org)

A combination of de novo transcriptome assembly and DGE analysis was shown to be a powerful method for identifying genes encoding enzymes potentially involved in the biosynthesis of important secondary metabolites in a non-model plant. (biomedcentral.com)
This is where Tet3FL comes in -- it stays close to a specific site on particular genes and removes methyl groups as needed, maintaining the functionality of those genes and, in effect, potentially acting as a "guardian" against neurodegenerative diseases. (sciencedaily.com)

This is an early event in serrated pathway tumourigenesis, and the BRAF V600E has been commonly associated with the CpG island methylator phenotype, microsatellite instability (MSI), and a consistent clinical presentation including a proximal location and predilection for elderly females. (hindawi.com)
6) Analyze studies with complex experimental designs, with multiple covariates, and with interaction effects, e.g., testing whether pathway association with clinical phenotype is different between male and female subjects. (bioconductor.org)

These changes include a deletion of the AKT3 gene or a loss of the region of chromosome 1 containing the AKT3 gene. (medlineplus.gov)
With the exception of EDA1 and NEMO , both localized on the X chromosome, all other genes encoding components of the TNFα-related signaling pathway involved in differentiation of skin appendages, are localized on the autosomes (Table 1 ). (springer.com)
TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)

Nevertheless, Fat is recognized as an upstream regulator of the Hpo pathway. (wikipedia.org)

The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. (nih.gov)
PANTHER Pathways consists of over 165, primarily signaling, pathways, each with subfamilies and protein sequences mapped to individual pathway components. (systems-biology.org)
The PTPN11 gene encodes SHP-2, a cytoplasmic tyrosine phosphatase that consists of two tandemly arranged SH2 domains at the N-terminus, a catalytic domain, and a C-terminal tail. (lu.se)

We hypothesized that mechanistic pathways leading to asthma symptoms in the effector phase of the disorder differ with the inciting allergen. (cdc.gov)
Two of these genes, arginase 1 and eotaxin 1 are the focus of continuing investigations in mouse models of asthma regarding differences in mechanistic pathways depending on the allergen. (cdc.gov)

This pathway describes progression of a serrated precursor lesion, often followed by the onset of epigenetic instability involving promoter methylation and silencing of key tumour suppressor genes, and accounts for 15%-20% of sporadic colorectal cancer [ 1 , 2 ]. (hindawi.com)

The BRAF (v-raf murine sarcoma viral oncogene homolog B) gene encodes a protein that belongs to the Raf family of serine/threonine protein kinases. (hindawi.com)

The peroxisome proliferator- activated receptor gamma coactivator 1-alpha ( Ppargc1a ) gene was found to be involved in the networks generated using Ingenuity Pathway Studio (IPA) from the differentially expressed transcript cluster lists of week 2 versus 1, week 3 versus 2, week 6 versus 3, and week 8 versus 6. (molvis.org)
Transcript profiles involved in the starch and sugar metabolism pathways were also affected under both stress conditions. (frontiersin.org)

The activating PTPN11 variations play a broad role in cancer, because SHP-2 acts as a signal-enhancing signalling component in pathways that regulate cell growth, transformation, differentiation, and migration. (lu.se)

This signal transduction pathway is initiated by epidermal growth factor ligands binding to and activating receptor tyrosine kinases (RTK) at the cell membrane. (hindawi.com)
Two-component signal transduction systems enable bacteria to sense, respond, and adapt to changes in their environment or in their intracellular state. (genome.jp)

The protein encoded by this gene belongs to the GSK-3-binding protein family. (nih.gov)
Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. (senescence.info)

We found that the anti-viral immune response was initiated only after PRRSV reached detectable levels in the fetus when a core set of interferon inducible genes were strongly upregulated in both tissues. (usda.gov)

TGF-beta exerts its effects on cell proliferation, differentiation, and migration in part through its capacity to modulate the deposition of ECM components. (nih.gov)
The signaling via the TNFα-related pathway, which is critical for differentiation of skin appendages, has been elucidated mainly due to the investigations performed in mice (Mikkola 2009 ). (springer.com)

However, in non-dividing cells (a group that includes most nerve cells in the brain) the effects of a gene being switched off due to improper methylation can be more profound. (sciencedaily.com)

She concludes, "In the future, the ratio of the various metabolites and the specific sites of their accumulation and activity should be taken into account in therapeutic strategies for diseases with impaired Kynurenine pathway function, observed in various neurodegenerative conditions. (mpg.de)

The cyclic GMP-AMP synthase (cGAS)-Stimulator of Interferon Genes (STING) pathway is a critical defender to sense various pathogens and trigger innate immunity of mammalian cells. (frontiersin.org)

Micro- array data from the ovalbumin and TMA model of asthma were also compared to previous data using Aspergillus as allergen to identify putative asthma `signature genes', i.e. genes up-regulated with all 3 allergens. (cdc.gov)

The Hippo signaling pathway is involved in restraining cell proliferation and promoting apoptosis. (wikipedia.org)

SHP-2 is a critical component in several signalling pathways involved in the control of developmental processes, hematopoiesis, and metabolism. (lu.se)

The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. (nih.gov)

pathwayPCA is an integrative analysis tool that implements the principal component analysis (PCA) based pathway analysis approaches described in Chen et al. (bioconductor.org)

As many cancers are marked by unchecked cell division, this signaling pathway has become increasingly significant in the study of human cancer. (wikipedia.org)

The miRNAs that produced similar effects in ESCs were then grouped and hierarchized using a clustering technique that enabled the researchers to organize the large volume of data obtained from the analysis and identify the signaling pathway with which each group of miRNAs was involved. (eurekalert.org)
To test whether the mutant and non-mutant versions of NPSR1 were able to activate components of this pathway to the same degree, the researchers injected a compound that triggers NPSR1 into both normal and genetically-engineered mice. (eurekalert.org)
The researchers looked at four genes - cinnabar, cardinal, white, and scarlet - named after abnormal eye colors following their loss in flies. (mpg.de)
Furthermore, by targeting these four genes and therefore four distinct steps within the pathway, the researchers were able to demonstrate that not only the accumulation of 3OH-K as such, but also its location in the cell and hence its availability in further reactions, is important for retinal health. (mpg.de)

Knockdown of FRAT1 inhibits hypoxia-induced epithelial-to-mesenchymal transition via suppression of the Wnt/β-catenin pathway in hepatocellular carcinoma cells. (nih.gov)
By this mechanism, the enzyme inhibits NF-kappaB pathway activation. (medscape.com)
In conclusion, this study suggests that miR-429 inhibits the angiogenesis of HBMECs through SNAI2-mediated GSK-3 β / β -catenin pathway. (hindawi.com)

These estimated latent variables represent pathway activities for individual subjects, which can then be used to perform integrative pathway analysis, such as multi-omics analysis. (bioconductor.org)

Organisms1

Diseases1

Chemicals and Drugs4

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes9

Health Care1

Mutations19

Differentially expressed genes3

Ingenuity pathway analysis2

Tumor6

Proteins14

Expression44

Signaling pathways involved1

Mutation7

Drosophila6

Kinase8

Several genes2

Phenotypes3

Metabolic pathways4

Canonical1

Ontology2

Biological5

PI3K-AKT6

Encode2

Regulation8

Molecular8

Genetic4

Cellular4

Regulatory6

Survival1

Variants3

Candidate genes3

Significantly5

KEGG2

Highly conserved2

Genetics1

Human genes1

Target genes1

Potentially2

Phenotype2

Chromosome3

Regulator1

Consists3

Mechanistic2

Epigenetic1

Encodes a protein1

Transcript2

Regulate cell1

Signal Transduction2

Protein encoded by this gene2

Immune1

Differentiation2

Methylation1

Diseases1

Interferon1

Putative1

Cell proliferation1

Metabolism1

Regulates1

Analysis approaches1

Cancers1

Researchers4

Inhibits3

Integrative1