• Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • We have found that the inactive conformations of the Tec kinase Itk and Src preferentially bind ADP over ATP, stabilising both proteins. (rcsb.org)
  • Using the protein-protein interaction analysis we observed strong interactions between the proteins produced by genes that are associated with cervical cancer. (jcancer.org)
  • Structural basis for phosphotyrosine recognition by the Src homology-2 domains of the adapter proteins SH2-B and APS. (genscript.com)
  • To test how well the human gene connectome could predict a disease-causing gene, the researchers sequenced exomes -- all DNA of the genome that is coding for proteins -- of two patients recently shown to carry mutations of a separate gene, TBK1. (sciencedaily.com)
  • Noonan syndrome and related disorders are caused by mutations in genes encoding for proteins of the RAS-ERK1/2 signaling pathway, which affect development by enhanced ERK1/2 activity. (sdbonline.org)
  • This enzyme phosphorylates tyrosine residues located in the C-terminal end of Src-family kinases (SFKs) including SRC, HCK, FYN, LCK, LYN and YES1. (wikipedia.org)
  • CSK acts by suppressing the activity of the Src family of protein kinases by phosphorylation of Src family members at a conserved C-terminal tail site in Src. (wikipedia.org)
  • Upon phosphorylation by other kinases, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. (wikipedia.org)
  • The Tec kinases, closely related to Src family kinases, are essential for lymphocyte function in the adaptive immune system. (rcsb.org)
  • In summary, we propose a universal mechanism for the activation and autoinhibition of the Src and Tec kinases. (rcsb.org)
  • FRK belongs to a family of SRC kinases. (atlasgeneticsoncology.org)
  • STAT3 binds to these sites via its SH2 (Src homology 2) domain, and is, in turn, tyrosine-phosphorylated by the receptor-associated JAKs. (nih.gov)
  • Phosphorylated STATs dimerize within the cytosol via their phosphotyrosines and Src-homology 2 (SH2) domains. (medscape.com)
  • In cells expressing RPTPkappa RNAi, phosphorylation of Src at Tyr527 was increased and (activating) phosphorylation of Src at Tyr416 was reduced. (nih.gov)
  • S364A - Strong decrease of phosphorylation by PRKACA (the catalytic subunit of protein kinase A). Csk's interaction with a phosphatase ("Lyp", gene product of PTPN22) is possibly associated with the increased autoimmune diseases associated with PTPN22 mutations. (wikipedia.org)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). (nih.gov)
  • X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which encodes the pre-B-cell receptor (Pre-BCR) and BCR. (medscape.com)
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  • lt;iframe sandbox="allow-scripts" security="restricted" src="https://homeopatia.bvs.br/en/2019/02/18/isopathic-use-of-auto-sarcode-of-dna-as-anti-miasmatic-homeopathic-medicine-and-modulator-of-gene-expression-homeopathy-2019/embed/#?secret=tNuomSjWCZ" width="600" height="338" title="“Isopathic use of auto-sarcode of DNA as anti-miasmatic homeopathic medicine and modulator of gene expression? (bvs.br)
  • We describe the first report of RNA sequencing of 5' capped (Pol II) RNAs isolated from acutely hepatitis C virus (HCV) infected Huh 7.5 cells that provides a general approach to identifying differentially expressed annotated and unannotated genes that participate in viral-host interactions. (mdpi.com)
  • In addition, the SRC gene is differentially expressed, developmentally regulated, and frequently overexpressed in human neoplasia. (xenbase.org)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • Some diseases are caused by single gene mutations. (sciencedaily.com)
  • We believe the human gene connectome will provide a shortcut in the search for disease-causing mutations in monogenic diseases. (sciencedaily.com)
  • Researchers in the St. Giles lab, headed by Jean-Laurent Casanova, previously showed that children with HSE have mutations in TLR3 or in genes that are closely functionally related to TLR3. (sciencedaily.com)
  • Each patient's exome contained hundreds of genes with potentially morbid mutations," says Itan. (sciencedaily.com)
  • Mutations in the STAT3 gene cause most cases of AD-HIES. (medscape.com)
  • In 2007, autosomal dominant mutations in signal transducer and activator of transcription-3 (STAT3) gene were identified as the molecular cause of this disease. (medscape.com)
  • STAT3 gene is diagrammed with depiction of hotspots (areas where higher numbers of patients were noted to have mutations). (medscape.com)
  • Mutations in the STAT3 gene have been identified in almost all cases of clinically verified autosomal dominant hyper-IgE syndrome (AD-HIES). (medscape.com)
  • Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)
  • Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)
  • We have utilized a lambda Charon 4A human genomic library to isolate recombinant clones harboring a highly conserved c-src locus containing nucleotide sequences homologous to the transforming gene of Rous sarcoma virus (v-src). (tmu.edu.tw)
  • This locus represents a highly conserved human c-src locus that is detectable in human cellular DNAs from various sources including placenta, HeLa cells, and WI-38 cells. (tmu.edu.tw)
  • These ATG genes are highly conserved in mammalian cells, allowing to study their functions also in higher eukaryotes [ 1 - 4 ]. (hindawi.com)
  • This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
  • The genes in the second group are called tumor suppressors. (cancerquest.org)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • Moreover, the ability of IL-10 to induce de novo synthesis of SOCS-3 in monocytes correlates with its ability to inhibit expression of many genes in these cells, including endotoxin-inducible cytokines such as tumor necrosis factor-alpha (TNF-alpha) and IL-1. (nih.gov)
  • Moreover, genome instability was attributed to impaired autophagy and several autophagy genes with tumor suppressor functions (e.g. (hindawi.com)
  • In contrast, lesions induced by myc and src acting cooperatively, were highly dysplastic with evidence of tumor formation after protracted periods. (duke.edu)
  • 80%) and biological pathways (such as adipocytokine, Notch, Hedgehog and NOD-like receptor signaling) were not identified by previous gene array studies. (mdpi.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Therefore, the causal genes and pathways are still not well known and additional genomic functional analyses are required to elucidate the biological mechanism between genetic variants and the risk of cervical cancer [ 12 , 13 ]. (jcancer.org)
  • Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). (nih.gov)
  • This gene is a member of the protein-tyrosine kinase oncogene family. (cancerindex.org)
  • alu family repetitive sequences are present within several human c-src introns. (tmu.edu.tw)
  • One of these genes, SOCS-3 (Suppressor of Cytokine Signaling-3) is a member of a newly identified family of genes that inhibit JAK/STAT-dependent signaling. (nih.gov)
  • Anti-phospho-Src family (Tyr416) Antibody, clone 2N8 is an antibody against phospho-Src family (Tyr416) for use in western blotting. (fishersci.com)
  • We have identified a novel pathway that directs Lyn/Src family tyrosine kinase signals to the invadopodia to regulate sarcoma cell invasion via the molecule AFAP-1-like-1 (AFAP1L1), a new member of the AFAP (actin filament-associated protein) family. (nature.com)
  • These data define a novel pathway that directs Lyn/Src family tyrosine kinase signals to sarcoma cell invadopodia through specific recruitment of Vav2 and Nck2 to phosphorylated AFAP1L1, to control cell migration and invasion. (nature.com)
  • lt;a href="https://blogs.cdc.gov/genomics/2019/08/14/can-a-healthy-lifestyle-2/">Can a Healthy Lifestyle Reduce Your Risk of Dementia Regardless of Your Genes? (cdc.gov)
  • lt;a href="https://homeopatia.bvs.br/en/2019/02/18/isopathic-use-of-auto-sarcode-of-dna-as-anti-miasmatic-homeopathic-medicine-and-modulator-of-gene-expression-homeopathy-2019/">Isopathic use of auto-sarcode of DNA as anti-miasmatic homeopathic medicine and modulator of gene expression? (bvs.br)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Thus, the ability of IL-10 to inhibit gene expression in monocytes is associated with its ability to rapidly induce synthesis of SOCS-3. (nih.gov)
  • Neonates exhibited enhanced prostate growth after 4-MBC and altered uterine gene expression after both filters. (researchgate.net)
  • Expression and estrogen sensitivity of target genes and nuclear receptor coregulators were altered at mRNA and protein levels in adult uterus, prostate and brain. (researchgate.net)
  • To bridge such gap, we integrated the largest cervical cancer GWAS ( N = 9,347) with gene expression measured in six human tissues to perform a multi-tissue transcriptome-wide association study (TWAS). (jcancer.org)
  • Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. (atlasgeneticsoncology.org)
  • We found a significantly lower expression of key autophagy- (ATG-) related genes in primary AML as compared to healthy granulocytes, an increased autophagic activity during all- trans retinoic acid- (ATRA-) induced neutrophil differentiation, and an impaired AML differentiation upon inhibition of ATG3, ATG4D, and ATG5. (hindawi.com)
  • Low PU.1 expression in AML may account for low ATG gene expression in this disease. (hindawi.com)
  • Local degradation of fibronectin at sites of expression of the transforming gene product pp60src. (nature.com)
  • Shear-stressed ECs showed adequate crosstalk with osteoblasts, stimulating the higher expression of the Runx2 gene and driving higher expressions of Alkaline phosphatase (ALP), bone sialoprotein (BSP), and osteocalcin. (bvsalud.org)
  • Mechanotransduction-related endothelial cell signaling as a source of angiocrine molecules also stimulated the higher expression of the Col3A1 gene in osteoblasts, which suggests it is a relevant protagonist during trabecular bone growth. (bvsalud.org)
  • In fact, we investigated ECM remodeling by first evaluating the expression of genes related to it, and our data showed a higher expression of matrix metalloproteinase (MMP) 2 and MMP9 in response to mechanosignaling-based angiocrine molecules, independent of considering w_DAE or the wo_DAE, and this profile reflected on the MMP2 and MMP9 activities evaluated via gelatin-based zymography. (bvsalud.org)
  • Isopathic use of auto-sarcode of DNA as anti-miasmatic homeopathic medicine and modulator of gene expression? (bvs.br)
  • Dimerized STATs then translocate to the nucleus, where they bind DNA in the promoter sequences of target genes to activate transcription. (medscape.com)
  • Overall, our study identified multiple candidate genes, especially four non-MHC genes, which may be causally associated with the risk of cervical cancer. (jcancer.org)
  • The genus of the natural organism from which the gene was obtained. (wwpdb.org)
  • Style for genes varies according to organism. (cdc.gov)
  • The following Sh2b2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)
  • The normal versions of genes in the first group are called proto-oncogenes. (cancerquest.org)
  • The mutated or otherwise damaged versions of these genes are called oncogenes. (cancerquest.org)
  • We have two copies of each gene and for oncogenes, a single defective copy is enough to cause a cell to divide. (cancerquest.org)
  • Numerous genes have been identified as proto-oncogenes. (cancerquest.org)
  • As stated in the introduction to this section, the defective versions of these genes, known as oncogenes, can cause a cell to divide in an unregulated manner. (cancerquest.org)
  • Scholars@Duke publication: Preneoplastic lesions induced by myc and src oncogenes in a heterotopic rat colon. (duke.edu)
  • With the use of viral vectors harboring myc and src oncogenes, we have assessed the potential contribution of these different elements to colonic neoplasia using a transplantation technique resulting in the formation of a heterotopic colon in Wistar Furth rats. (duke.edu)
  • All bacterial and many viral genes are italicized. (cdc.gov)
  • Human c-src sequences homologous to the entire v-src region are present in a 20-kilobase region that contains 11 exons as determined by restriction mapping studies utilizing hybridization to labeled DNA probes representing various subregions of the v-src gene and by preliminary DNA sequencing analyses. (tmu.edu.tw)
  • It then homodimerizes and translocates to the nucleus where it binds with high affinity to STAT-binding elements (SBE) in the promoters of various IL-10-responsive genes. (nih.gov)
  • To directly compare the specificity and efficacy of different Cre lines in mediating adipocyte specific recombination, transgenic Cre lines driven by the adipocyte protein 2 (aP2) and adiponectin (Adipoq) gene promoters, as well as a tamoxifen-inducible Cre driven by the aP2 gene promoter (iaP2), were bred to the Rosa26R (R26R) reporter. (diabetesjournals.org)
  • Differential use of these promoters and their associated exons coupled with subsequent splicing to a common downstream exon results in c-Src transcripts with different 5' ends but identical coding regions. (xenbase.org)
  • A considerable degree of similarity exists between the organization of the human c-src gene and that of the corresponding chicken c-src gene with respect to exon size and number. (tmu.edu.tw)
  • Here we describe the isolation of a new distal SRC promoter and associated exon, designated 1alpha, which we mapped to a position 1.0 kilobase upstream of the previously described SRC1A housekeeping promoter. (xenbase.org)
  • Association of autoimmune pancreatitis with cytotoxic T-lymphocyte antigen 4 gene polymorphisms in Japanese patients. (cdc.gov)
  • However, overexpression of a wild-type allele did not affect life span, showing a specific effect of the gain-of-function allele independently of a gene dosage effect. (sdbonline.org)
  • These results indicate that SRC transcriptional regulation is much more complex than previously realized and implicates HNF-1 in both the tissue -specific regulation of the SRC gene in normal tissues and the overexpression of c-Src in certain human cancers. (xenbase.org)
  • Researchers have generated the full set of distances, routes and degrees of separation between any two human genes, creating a map of gene "shortcuts" that aims to simplify the hunt for disease-causing genes in monogenic diseases. (sciencedaily.com)
  • The investigation, spearheaded by Yuval Itan, a postdoctoral fellow in the St. Giles Laboratory of Human Genetics of Infectious Diseases, has led to the creation of what he calls the human gene connectome, the full set of distances, routes (the genes on the way), and degrees of separation, between any two human genes. (sciencedaily.com)
  • Approaches based on the human gene connectome have the potential to significantly increase the discovery of disease-causing genes for diseases that are genetically understood in some patients as well as for those that are not well studied. (sciencedaily.com)
  • The major part of his production relates to variations ranging from protein engineering to effects and mechanisms of variations in protein structures, genes and diseases. (lu.se)
  • 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)
  • Itan and his colleagues, including researchers from the Necker Hospital for Sick Children, the Pasteur Institute in Paris, and Ben-Gurion University in Israel, designed applications for the use of the human gene connectome. (sciencedaily.com)
  • The human gene connectome is, to the best of our knowledge, the only currently available prediction of the specific route and distance between any two human genes of interest, making it ideal to solve the needle in the haystack problem of detecting the single disease causing gene in a large set of potentially fatal genes," says Itan. (sciencedaily.com)
  • The human gene connectome should also progress the general field of human genetics by predicting the nature of unknown genetic mechanisms. (sciencedaily.com)
  • In other words, these genes are located at a short biological distance from TLR3. (sciencedaily.com)
  • After sorting the genes by their predicted biological proximity to TLR3, Itan and his colleagues found TBK1 at the top of the list of genes in both patients. (sciencedaily.com)
  • This can now be performed by prioritizing any number of genes by their biological distance from genes that are already known to cause the disease. (sciencedaily.com)
  • While myc alone induced atypia and some dysplasia, src induced focal dysplastic lesions throughout the colon mucosa with evidence of metaplasia. (duke.edu)
  • Allosteric activation of both Itk and Src depends critically on the disruption of a conserved hydrophobic stack that accompanies regulatory domain displacement. (rcsb.org)
  • T-cell regulatory gene CTLA-4 polymorphism/haplotype association with autoimmune pancreatitis. (cdc.gov)
  • Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
  • Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
  • Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)
  • In fact, amplification of genes by over replication of certain regions of DNA is one of the primary mechanisms by which cancer cells become resistant to drug therapy. (nih.gov)
  • Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment. (cdc.gov)
  • These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
  • This region contained a consensus binding site for hepatic nuclear factor-1 (HNF-1), a liver -enriched transcription factor implicated in the regulation of a number of genes in liver , kidney , stomach , intestine , and pancreas . (xenbase.org)
  • Immunoglobulin gene rearrangement begins with heavy-chain gene rearrangement followed by light-chain gene rearrangement. (medscape.com)
  • Non-XLA is the result of mu heavy-chain gene deficiency that leads to abortive production of IgM and failure of B-cell development. (medscape.com)
  • Naegeli-Franceschetti-Jadassohn (NFJ) syndrome may be associated with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21 (see Causes). (medscape.com)
  • The BTK gene is present on Xq21.3-q22, and its defect results in deficiency of Bruton tyrosine kinase. (medscape.com)
  • Identification of a SRC-like tyrosine kinase gene, FRK, fused with ETV6 in a patient with acute myelogenous leukemia carrying a t(6;12)(q21;p13) translocation. (atlasgeneticsoncology.org)