• In recent years, our understanding of genetic predisposition to PD has advanced vastly, including causative mutations in the genes encoding α-synuclein, LRRK2, parkin, PINK1, and DJ-1 just to name a few 5 . (nature.com)
  • Studies of both nevoid basal cell carcinoma syndrome and sporadic basal cell carcinomas have shown mutations in the PATCHED gene. (medscape.com)
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene, which has a central function in maintaining immunological tolerance. (ersjournals.com)
  • OMIM 240300), is an autosomal recessive disorder caused by mutations causing loss of function of the autoimmune regulator (AIRE) protein 1 . (ersjournals.com)
  • The pathogenesis of PPH is not clear but recently it has been put in a novel perspective by the demonstration of mutations in BMPR‐II (bone morphogenic protein receptor II) in a proportion of patients 5 - 7 . (ersjournals.com)
  • A recent study demonstrated an absence of mutations in BMPR‐II in patients with PPH and connective tissue disease, thus suggesting that PPH associated with immune deregulation may have a different pathogenesis from the familial form 13 . (ersjournals.com)
  • Additional sex combs-like 1 ( ASXL1 ) mutations have been described in all forms of myeloid neoplasms including chronic myelomonocytic leukemia (CMML) and associated with inferior outcomes, yet the molecular pathogenesis of ASXL1 mutations ( ASXL1 -MT) remains poorly understood. (biomedcentral.com)
  • The contribution of RUNX1 mutations in the pathogenesis of myeloid transformation in ASXL1 -mutated leukemia, however, remains unclear. (biomedcentral.com)
  • Co-expression of two mutant genes increased myeloid stem cells in animal model, suggesting that cooperation of RUNX1 and ASXL1 mutations played a critical role in leukemia transformation. (biomedcentral.com)
  • Importantly, some of these smORFs display conserved functions with their mutations being associated with pathogenesis. (biomed.news)
  • Aberrant differentiation in MDS can often be traced to abnormal DNA methylation as well as mutations in genes that regulate epigenetic programs involved in DNA methylation or histone modification control [ 1 ]. (biomedcentral.com)
  • MEN-1 is due to mutations in the tumor suppressor gene MEN1, located on chromosome 11q13. (medscape.com)
  • Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)
  • There are a myriad of mutations identified in genes encoding cardiac transcription factors, ion channels, gap junctions, energy metabolism regulators, lamins and other structural proteins. (medscape.com)
  • Type 2 hereditary hemochromatosis (juvenile hemochromatosis) is a rare autosomal recessive disorder caused by mutations in the HJV gene that affect the transcription protein hemojuvelin, or mutations in the HAMP gene, which directly codes for hepcidin. (msdmanuals.com)
  • Mutations in transferrin receptor 2 ( TFR2 ) gene that codes for a protein that appears to control saturation of transferrin, can cause a rare autosomal recessive form of hemochromatosis. (msdmanuals.com)
  • X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
  • In particular, ESRR alpha (ESRRa) and ESRR gamma (ESRRg) are key metabolic regulators of energy homeostasis and abnormal functions of these proteins are linked to metabolic syndromes including diabetes and fatty liver disease 5 . (nature.com)
  • Abstract Scaffold proteins are crucial regulators of signaling networks, and their abnormal expression may favor the development of tumors. (techscience.com)
  • CircRNAs exert their biological effects by 4 different mechanisms: serving as sponges of microRNAs (miRNAs), serving as sponges of RNA binding proteins (RBPs), modulating parental gene transcription, and encoding functional proteins. (techscience.com)
  • In chapter 2, by using CRISPR/Cas9 gene editing, genetic analysis and biochemical assays, I identified the differential pairings of typical NLR receptor SOC3 with atypical NLR proteins CHS1 or TN2 to guard the homeostasis of the E3 ligase SAUL1. (ubc.ca)
  • Mechanically, m6A can be recognized by "reader" proteins or can directly modify RNA conformation, and it widely affects gene expression by mediating RNA stability, translation, splicing and export. (scienceopen.com)
  • The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
  • The major characteristics of Nrf2 are to some extent mimicked by Nrf2-dependent genes and their proteins including heme oxygenase-1 (HO-1), which besides removing toxic heme, produces biliverdin, iron ions and carbon monoxide. (springer.com)
  • Although all the currently known ASD risk genes code for proteins, long non-coding RNAs (lncRNAs) as essential regulators of gene expression have been implicated in ASD. (figshare.com)
  • May be involved in the regulation of pathogenesis-related proteins (PRs). (ac.be)
  • these act mainly as regulators of canonical proteins involved in essential cellular processes. (biomed.news)
  • Small open reading frames (smORFs) encoding proteins less than 100 amino acids (aa) are known to be important regulators of key cellular processes. (biomed.news)
  • He also showed that double-stranded (ds)RNA- and ZDNA binding proteins had a role in poxvirus pathogenesis. (cdc.gov)
  • Moreover, we identified that PARIS actively modulates expression of PPARγ target genes by physically binding to the promoter regions. (nature.com)
  • Although no conclusive results are shown in our work, a role of Notch1 through miR-29 is implicated in the pathogenesis of glioblastoma pathogenesis warranting further investigation into the role downstream target genes in the Notch signaling pathway. (umass.edu)
  • Experimentally confirmed target genes were identified for the 73 diagnostic miRNAs, from which proliferation genes were selected from CRISPR-Cas9/RNA interference (RNAi) screening assays. (cdc.gov)
  • We provided novel evidence that IPO13 may contribute to the pathogenesis of pterygium via modulation of K17 and c-Jun. (molvis.org)
  • Lower PTA expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes. (nih.gov)
  • The results demonstrated that PPARγ functions as a master regulator of PARIS-induced molecular changes at the transcriptome level, confirming that PARIS acts primarily on PGC-1α to lead to neurodegeneration in PD. (nature.com)
  • In the same paper we also demonstrated that accumulating PARIS acts on PGC-1α, the master regulator of mitochondrial biogenesis, along the NRF1/2-TFAM axis to intervene in mitochondrial biogenesis, and that the transcriptionally inactive PARIS mutant (C571A) lacks repression capacity to induce the phenotype. (nature.com)
  • We used a functional genomics approach to interrogate all the genomic data available to identify functional polymorphisms related to the action of this master regulator. (usda.gov)
  • Thus, activation of DLK is an early event, or even the master regulator, controlling a wide variety of pathways downstream of nerve injury that ultimately lead to chronic pain. (elifesciences.org)
  • We find that DLK acts as a 'master regulator' of transcriptional changes responsible for the establishment of neuropathic pain phenotypes caused by nerve injury. (elifesciences.org)
  • These results suggest that CPR5 is a master regulator of multiple processes. (massey.ac.nz)
  • However, the molecular pathogenesis of the progression of CMML to sAML remains unclear. (biomedcentral.com)
  • CircRNAs are involved in various pathological processes and have been revealed to be important regulators of GBM pathogenesis. (techscience.com)
  • Several studies have shown that miRNAs are important regulators in the conflicting efforts between the virus (to manipulate the host for its successful propagation) and the host (to inhibit the virus), culminating in either the elimination of the virus or its persistence. (wjgnet.com)
  • Here we review the pathogenesis, biological consequences, and prognostic impact of bone marrow fibrosis. (haematologica.org)
  • Recently, bioinformatics research revealed that m 6 A-related genes including METTL3 and YTHDF1 were biological markers and independent prognosis factors in HCC [ 12 ]. (hindawi.com)
  • However, the biological functions' clinical value of other m 6 A-related genes in HCC remains unclear. (hindawi.com)
  • This review presents a complex summary of GVHD pathogenesis with focus on references considering basic biological processes such as DNA damage response and cellular senescence. (hindawi.com)
  • This review summarizes the updated GVHD pathogenesis linking GVHD with biological processes such as DNA damage response (DDR) and cellular senescence (Figure 1 ). (hindawi.com)
  • Biological processes underlying GVHD pathogenesis are shown at the bottom of the scheme. (hindawi.com)
  • Biological assays and gene expression analysis were performed on three cell lines: ISH, MFE-296 and MFE-280. (spandidos-publications.com)
  • Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. (mdpi.com)
  • The present study demonstrated the biological and functional evidence for the critical role of RUNX1 -MT in ASXL1 -mutated leukemia in the pathogenesis of myeloid malignancies. (biomedcentral.com)
  • This gene encodes a member of the regulator of G-protein signaling family. (nih.gov)
  • Encodes a component of the SWR1 complex that regulate gene expression through H2A & H2A.F/Z remodelling. (ac.be)
  • MEN1 encodes a transcriptional regulator protein, menin. (medscape.com)
  • [ 2 ] Deletion or mutation of this gene results in decreased control of cellular proliferation and can contribute to the formation of an immortalized cell. (medscape.com)
  • It has been demonstrated that ADAM12, A Disintegrin And Metalloproteinase encoded by ADAM12 gene, is over-expressed in glioblastoma and directly correlated with tumor proliferation. (umass.edu)
  • Here we investigated the role of IPO13 in the pathogenesis of pterygium and the underlying mechanism including interaction with other cell proliferation-related factors: keratin 17 (K17), a lesional protein and a member of the type I keratins, and c-Jun, a protein of the activator protein-1 complex. (molvis.org)
  • In cultured PECs, overexpression or knockdown of the IPO13 gene increased or decreased PEC proliferation, respectively. (molvis.org)
  • The current understanding of aGVHD pathogenesis can be summarized as (1) initial tissue damage induced by the conditioning regimen followed by the denudation of auto- and alloantigens accompanied by massive inflammatory cytokine secretion ("cytokine storm") activating APCs, (2) auto- and alloantigen presentation mediated by APCs together with the costimulatory signaling prime donor's cytotoxic T lymphocytes and their proliferation, and (3) the migration of activated cellular effectors toward GVHD target tissues. (hindawi.com)
  • We also showed that dose-dependent induction of proliferation was connected with changes in the expression of MKI67, CCND1 and CCNE1 genes in well- and poorly differentiated cancer cells. (spandidos-publications.com)
  • Recently, a number of studies have shown that Ang II plays an important role in proliferation, invasiveness and migration of tumour cells, alteration of expression of cancer-related genes, as well as in physiological tissue remodelling. (spandidos-publications.com)
  • MicroRNAs control the levels of numerous cell cycle regulators that controls cell proliferation. (ukessays.com)
  • To evaluate the leukemogenic role of RUNX1-MT in ASXL1 -mutated cells, we co-expressed RUNX1 -MT (R135T) and ASXL1 -MT (R693X) in different cell lines and performed immunoblot, co-immunoprecipitation, gene expression microarray, quantitative RT-PCR, cell proliferation, differentiation, and clonogenic assays for in vitro functional analyses. (biomedcentral.com)
  • the results suggest that CYP4F3A is a critical positive regulator of HL-60 proliferation. (cdc.gov)
  • Dysregulation of m6A is gradually defined as the pathogenesis of some diseases, e.g., cancer and cardiovascular disease. (scienceopen.com)
  • Aberrant expression of many specific lncRNAs was reported to be correlated to the pathogenesis of various diseases in human and model animals [ 16 , 17 ]. (researchsquare.com)
  • 1) The alternation of protein levels of critical oncogenes or tumour suppressor genes, which causes by miRNAs deregulation may also lead to proliferative diseases such as cancer. (ukessays.com)
  • Besides cancer, some miRNAs genes cause or contribute in many inherited and genetic based diseases. (ukessays.com)
  • As miRNAs proposed to control the expression up to one third of all genes and possibly utilised as diagnostic and prognostic marker for many genetic based diseases. (ukessays.com)
  • [ 3 ] Mutation of this gene eliminates a crucial inhibitory signal for a cellular regulation pathway known as the Hedgehog pathway, which is named after a similar pathway found in Drosophila . (medscape.com)
  • Mutation in the gene encoding this regulator abolished the ability of P. aeruginosa to produce biofilms in vitro, without any effect on the planktonic growth. (diagenode.com)
  • Therefore, the entire oligodendroglial differentiation, diffuse astrocytomas, oligoastrocytomas, coding sequence of the LATS1 gene in IDH1 Mutation, and 1P/19q loSS and oligodendrogliomas. (who.int)
  • Cystic fibrosis (CF) is an autosomal recessive condition caused by the mutation of the cystic fibrosis trans-membrane regulator gene (CFTR) on chromosome 7. (who.int)
  • It results from an autosomal dominant mutation in the SLC40A1 gene and affects the ability of ferroportin to bind hepcidin. (msdmanuals.com)
  • As a positive regulator of plant immunity, E3 ligase SAUL1 is guarded by NLR protein SOC3. (ubc.ca)
  • Moreover, in contrast to previous reports, the downregulation of PDF1.2 in the majority of CPR5 complementation lines proposes CPR5 to be a positive regulator of PDF1.2. (massey.ac.nz)
  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. (wikipedia.org)
  • Our findings therefore suggest that RNA decoration by m(6)A has a fundamental role in regulation of gene expression. (scienceopen.com)
  • Gene regulation network in Pseudomonas aeruginosa is complex. (diagenode.com)
  • encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
  • lncRNAs have been reported to possess multiple functions including regulation of gene expression, transcriptional activation and silencing of genes and thus play critical roles in a diversity of cellular process [ 14 , 15 ]. (researchsquare.com)
  • 1) For example, the down-regulation of miR15s and miR - 16 - 1 in chronic lymphocytic leukaemia, prostate cancer and pituitary tumours, leading to the inhibition of tumour growth and induce cell cycle arrest at the G 1 - phase by target cell cycle regulators ( cyclin D1, cyclin E1, cyclin D3 and CDK6). (ukessays.com)
  • Component of the SWR1 complex which mediates the ATP-dependent exchange of histone H2A for the H2A variant H2A.F/Z leading to transcriptional regulation of selected genes (e.g. (ac.be)
  • Gene expression in benzene-exposed workers by microarray analysis of peripheral mononuclear blood cells: induction and silencing of CYP4F3A and regulation of DNA-dependent protein kinase catalytic subunit in DNA double strand break repair. (cdc.gov)
  • To coordinate expression of virulence genes during infection, S. aureus uses 2-component systems, transcription factors ( 5 ) and regulatory or small RNAs (sRNAs), which function as positive ( 6 ) or negative ( 7 ) virulence determinants. (cdc.gov)
  • Transcriptome analysis revealed that PA1226 regulates many essential virulence genes/pathways, including those involved in alginate, pili, and LPS biosynthesis. (diagenode.com)
  • Several SNPs fall close, or are linked by expression of genes related to lipid-metabolism, including CYP26A1. (usda.gov)
  • Moreover, we examined alterations in the expression of genes related to cancer cell behaviour after Ang II treatment. (spandidos-publications.com)
  • Identification and characterization of the host resistance as well as regulatory genes can provide insights into understanding the mechanisms of host resistance and the use of host resistance to develop new cultivars with durable resistance. (frontiersin.org)
  • Bacterial pathogenesis is triggered by complex molecular mechanisms that sense bacterial density within an infected host and induce the expression of toxins for overriding the immune response. (cipsm.de)
  • In this article we systemically present an overview of the functions and mechanisms of identified m6A regulators. (scienceopen.com)
  • Required for the activation of FLC and FLC/MAF genes expression to levels that inhibit flowering, through both histone H3 and H4 acetylation and methylation mechanisms. (ac.be)
  • Understanding of the molecular and ionic mechanisms underlying cardiac conduction is essential for the appreciation of the pathogenesis of conduction abnormalities in structurally normal and altered hearts. (medscape.com)
  • Streptococcal pathogens continue to evade concerted efforts to decipher clear-cut virulence mechanisms, although numerous genes have been implicated in pathogenesis. (cdc.gov)
  • Accumulation expression levels of 326 co-up regulated genes in both tomato lines at 6 DPI might be involved in basal defense, while the specific and strongly induced genes at 6 DPI might be correlated with the resistance in PI 114490. (frontiersin.org)
  • Variation in regulator of G-protein signaling 17 gene (RGS17) is associated with multiple substance dependence diagnoses. (nih.gov)
  • The TP53 gene codes for a protein product that is a strong negative regulator of normal human cell growth and is thought to act as a tumor suppressor. (medscape.com)
  • The AIRE protein is a transcriptional regulator expressed mainly in the thymus and plays a central role in the development and maintenance of immunological tolerance by promoting the ectopic expression of peripheral tissue-restricted antigens in medullary epithelial cells of the thymus 2 . (ersjournals.com)
  • Particularly, the knowledge learnt from protein-coding ASD risk genes was transferred to the prediction and prioritization of ASD-associated lncRNAs. (figshare.com)
  • Moreover, the RUNX1 mutant protein was more stable than WT and increased HIF1-α and its target ID1 gene expression in ASXL1 mutant cells. (biomedcentral.com)
  • Pansensitive and panresistant genes to 21 NCCN-recommended drugs with concordant mRNA and protein expression were identified. (cdc.gov)
  • The ERAP1 gene provides instructions for making a protein called endoplasmic reticulum aminopeptidase 1. (medlineplus.gov)
  • Each of the ERAP1 gene variants changes a single protein building block (amino acid) in endoplasmic reticulum aminopeptidase 1. (medlineplus.gov)
  • MicroRNAs (miRNAs) are small non-coding RNAs that modulate gene expression at the post-transcriptional level by affecting both the stability and translation of complementary mRNAs. (wjgnet.com)
  • We used a rodent MS model and combined an unbiased genome-wide CRISPR screen with functional in vivo validation studies, multiphoton microscopy, and in vitro mechanistic experiments, to provide a definite molecular characterization of the central step in MS pathogenesis, the infiltration of autoreactive T cells to the CNS,' says Kawakami. (news-medical.net)
  • 2023). A genome-wide in vivo CRISPR screen identifies essential regulators of T cell migration to the CNS in a multiple sclerosis model. (news-medical.net)
  • This regulator is also essential for the in vivo fitness and pathogenesis in both Drosophila melanogaster and BALB/c mouse lung infection models. (diagenode.com)
  • These striking phenotypes result from the control by DLK of a transcriptional program in somatosensory neurons regulating the expression of numerous genes implicated in pain pathogenesis, including the immune gene Csf1 . (elifesciences.org)
  • Cox regression analysis identifies independent prognostic factors for these patients, and enrichment analysis of prognosis-related genes was also performed. (biomedcentral.com)
  • We constructed a 13-gene prognostic model for LUAD patients. (biomedcentral.com)
  • Within this context, we constructed a prognostic model of ERS-related genes, combining the risk scores in the model with clinical characteristics (age, sex, staging, etc.) to establish a nomogram, and found its performance in estimating patient survival was excellent. (biomedcentral.com)
  • In the last decade, diagnostic and prognostic evaluation has been facilitated by global gene expression profiling (GEP), provid- ing a new powerful means for the classification, prediction of survival, and response to treatment of lym- phomas. (lu.se)
  • From the list of genes that were targeted by the 73 diagnostic miRNAs, DGKE and WDR47 had significant associations with responses to both systemic therapies and radiotherapy in lung cancer. (cdc.gov)
  • Functional enrichment analysis suggested that these three genes may be involved in genetic and epigenetic events with known links to HCC. (hindawi.com)
  • By analyzing gene expression data and measuring engulfment activity following genetic knockout, I determined the direct effect of newly identified Alzheimer's risk genes on microglia engulfment function. (harvard.edu)
  • Inherited genetic variants such as single-nucleotide polymorphisms (SNPs) of candidate genes, encoding various cytokines, chemokines, and inflammatory regulators, have become a subject of interest of genetic studies searching for independent predictors of GVHD development and HSCT outcome [ 4 - 7 ]. (hindawi.com)
  • Ploidy and MYCN amplification have been used as genetic markers for risk stratification and therapeutic decision making, and, more recently, gene expression profiling and genome-wide DNA copy number analysis have come into the picture as sensitive and specific tools for assessing prognosis. (biomedcentral.com)
  • The applica tion of new genetic tools also led to the discovery of an important familial neuroblastoma cancer gene, ALK , which is mutated in approximately 8% of sporadic tumors, and genome-wide association studies have unveiled loci with risk alleles for neuroblastoma development. (biomedcentral.com)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • The suspected diagnosis of cystic fibrosis was confirmed with a sweat chloride level of 120 mmol/L and homo-zygozity for the Delta F 508 gene on genetic studies. (who.int)
  • Most of the m 6 A RNA methylation regulators were confirmed to be differentially expressed among groups stratified by clinical characteristics and tissues. (hindawi.com)
  • Overall, the numbers of differentially expressed genes (DEGs) were higher in the resistant tomato line PI 114490 than in the susceptible line OH 88119, and the numbers of DEGs were higher at 6 DPI than at 6 HPI. (frontiersin.org)
  • For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
  • In summary, we demonstrated the vital role of m 6 A RNA methylation regulators in the initial presentation and progression of HCC and constructed a nomogram which would predict the clinical outcome and provide a basis for individualized therapy. (hindawi.com)
  • Recent reports have identified multiple regulators of glioblastoma progression and invasiveness. (umass.edu)
  • Title: Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis. (genscript.com)
  • The serum levels of proinflammatory cytokines as well as the expression of inflammation- and apoptosis-related genes in colonic tissue were also analyzed. (carcinogenesis.com)
  • These findings indicate that the doenjang attenuated colon carcinogenesis induced by AOM and DSS by ameliorating the symptoms of colon cancer, reducing the occurrence of neoplasia, regulating proinflammatory cytokine levels, and controlling the expressions of inflammation- and apoptosis-related genes in the colonic tissue. (carcinogenesis.com)
  • Basically, these regulators can be ascribed to three functional categories, which are necessary for a T cell to cross over from the blood to the brain. (news-medical.net)
  • Conclusions Our results suggest that ASD risk genes can be accurately predicted using developmental brain gene expression data and transcript sequence features, and the models may provide useful information for functional characterization of the candidate lncRNAs associated with ASD. (figshare.com)
  • We compared the signature genes, gene expression profiles and functional annotations of the mouse and human RPE. (vu.nl)
  • Not unexpectedly, our gene expression analysis and comparative functional annotation suggested that, in general, the mouse and human RPE are very similar. (vu.nl)
  • sults: sodium 133 mmol/L, potassium membrane regulator gene ( CFTR ) on He was readmitted 5 more times 3.4 mmol/L, chloride 100 mmol/L and chromosome 7. (who.int)
  • We identified an m 6 A RNA methylation regulator-based signature (including METTL3, YTHDC2, and YTHDF2) that could effectively stratify a high-risk subset of these patients by univariate and LASSO Cox regression, and receiver operating characteristic (ROC) analysis indicated that the signature had a powerful predictive ability. (hindawi.com)
  • In this section, we comprehensively analyzed the expression levels of fourteen m 6 A RNA methylation regulators and clinical factors in patients with HCC from the ICGC (International Cancer Genome Consortium, https://icgc.org/ ), Gene Expression Omnibus (GEO, https://www.ncbi.nlm.nih.gov/geo/ ), and TCGA (The Cancer Genome Atlas, http://cancergenome.nih.gov/ ) databases. (hindawi.com)
  • Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico. (genscript.com)
  • Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)
  • However, little is known about its roles in initial presentation, development, and pathogenesis for HCC. (hindawi.com)
  • Many of these regulators have been shown to play important roles in biofilm formation and maintenance. (diagenode.com)
  • Some lncRNAs show altered expression levels in autistic brains, but their roles in ASD pathogenesis are still unclear. (figshare.com)
  • Here we report the characterization of two benzene-regulated genes. (cdc.gov)
  • These genes were selected based on their role in asthmatic inflammatory processes and History previously reported associations with asthma phenotypes. (cdc.gov)
  • Immune cell analysis revealed that the genes in the signature were correlated with B cell, CD4 T cell, CD8 T cell, dendritic cell, macrophage, and neutrophil. (hindawi.com)
  • My thesis project investigated the role of the immune system's microglia cells in Alzheimer's disease pathogenesis," Ran says. (harvard.edu)
  • The findings from this study, provided that other similar cases are reported, suggest that immune deregulation plays a role in the pathogenesis of primary pulmonary hypertension. (ersjournals.com)
  • and 4) an increased frequency of HLA class II antigens DR3 12 and DQ7 11 have been reported among PPH patients, further suggesting that immune deregulation plays a role in the pathogenesis of the disorder. (ersjournals.com)
  • The occurrence of PPH in the course ofthis rare disease with well documented dysfunction of immunological system 2 may suggest a possible role of immune deregulation in the pathogenesis of PPH. (ersjournals.com)
  • These include the upregulation of immune gene Csf1 (colony stimulating factor 1) in primary sensory neurons. (elifesciences.org)
  • Also our study indicated that WSC induced an increase in the transcriptional expression of matrix metalloproteinases, MMP-2 and MMP-9 and an immune response regulator, Toll Like Receptor-4. (who.int)
  • The main goal of this project is to dissect the relationship between HIV-1 viral diversity, evolutionary dynamics, innate immune responses, and acute retroviral syndrome during acute HIV-1 infection, and how they contribute to disease pathogenesis during the acute and chronic stages of infection. (lu.se)
  • Before now, genome-wide CRISPR screens have largely been utilized in investigations relating to cancer pathogenesis, but not yet in relation to MS. (news-medical.net)
  • Concretely, genome-wide association studies have detected numerous asthma-associated gene variants, while few of them (less than 10%) can be explained to contribute to the risk of asthma [ 10 ]. (researchsquare.com)
  • Thus, this study shows the relevance of smORFs in regulating important cellular functions and supports the systematic characterisation of this class of genes to understand their functions and evolution. (biomed.news)
  • Additionally, dysregulation of the Notch signaling pathway has been implicated in the pathogenesis of many gliomas. (umass.edu)
  • We then utilized the models to predict and prioritize a list of candidate lncRNAs, including some reported to be cis-regulators of known ASD risk genes, for further investigation. (figshare.com)
  • CONCLUSION: The data reported here represent the first in vitro demonstration of the effect of waterpipe smoke on cellular parameters providing evidence of the potential involvement of WPS in the pathogenesis of COPD through impairing cellular growth and inducing inflammation. (who.int)
  • Dr. Jacobs described Vaccinia viruses deficient in E3L, a regulator of the cellular antiviral response and noted their potential for the production of improved vaccines. (cdc.gov)
  • Attempts to confirm the binding sequences by electrophoretic mobility shift assay led to the discovery of a co-regulator, PA1413, via co-immunoprecipitation assay. (diagenode.com)
  • HBEpCs overexpressing DEFB1 caused a significant reduction in IAV, that was confirmed by IAV matrix gene analysis, plaque assay, and confocal microscopy. (cdc.gov)
  • Diagnosis is by elevated serum ferritin, iron, and transferrin saturation levels and confirmed by a gene assay. (msdmanuals.com)
  • Background The human retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age related macular degeneration (AMD). (vu.nl)
  • Induction of the genes may play a role in the pathogenesis of benzene hematotoxicity and serve as biomarkers of benzene exposure. (cdc.gov)
  • Further study of this pathway is also underway and will likely have considerable relevance to the pathogenesis of basal cell carcinoma and the fibroepithelioma of Pinkus. (medscape.com)
  • The most common comutations with BCOR genes were ASXL1 ( p = 0.002), DNMT3A ( p = 0.114) and TET2 ( p = 0.148). (biomedcentral.com)
  • To analyze benzene-caused aberrant gene expression, we examined differential gene expression by microarray analysis of peripheral mononuclear blood cells from seven workers diagnosed with benzene poisoning and seven matched controls. (cdc.gov)
  • And further filtering of the data revealed 8 of these were significantly associated with altered gene expression in human adipose. (usda.gov)
  • A screen against the MuTHER expression quantitative trait locus data revealed 8 of these were significantly associated with altered gene expression in human adipose, more than would be expected by chance. (usda.gov)
  • Exome sequencing was carried out in gemistocytic astrocytomas, and homozygous deletion of genes was identified at 19q13, i.e. (who.int)
  • However, for unknown reasons, phenotypic (clinical) disease is much less common than predicted by the frequency of the gene (ie, many homozygous people do not manifest the disorder). (msdmanuals.com)
  • Staphylococcal infection severity is based on host factors and bacterial pathogenesis ( 10 ). (cdc.gov)
  • After Ang II treatment, poorly differentiated endometrial cancer cell line acquired a mesenchymal phenotype, which was characterized by induced expression of EMT-related genes (VIM, CD44, SNAI1, ZEB1 and ZEB2). (spandidos-publications.com)
  • Current advances in molecular biology are allowing new insights into the pathogenesis of skin cancer. (medscape.com)
  • Genetics of ankylosing spondylitis--insights into pathogenesis. (medlineplus.gov)
  • We identify over 12,000 m(6)A sites characterized by a typical consensus in the transcripts of more than 7,000 human genes. (scienceopen.com)
  • Methods We performed a microarray study to identify and functionally annotate RPE specific gene expression in mouse and human RPE. (vu.nl)
  • Results We defined sets of mouse (64), human (171) and mouse-human interspecies (22) RPE signature genes. (vu.nl)
  • For example, CFHR1, most likely the main complement regulator in AMD pathogenesis was highly expressed in human RPE, but almost absent in mouse RPE. (vu.nl)
  • We show that human HELQ acts as a DNA end resection regulator, with opposing activities on DNA end resection at DSBs and on stalled forks as seen for other regulators. (bvsalud.org)
  • Significant downregulation of beta-defensin1 gene (DEFB1) expression was observed when human bronchial epithelial cells (HBEpCs) were exposed to IAV. (cdc.gov)
  • In addition, silencing of the IPO13 gene blocked nuclear translocation of c-Jun. (molvis.org)
  • Nrf2 stabilization and increase in its half-life even to 200 min [ 9 ] allows nuclear translocation and activation of transcription of cytoprotective genes (Fig. 1 ). (springer.com)