• Here we demonstrate that, during brain maturation, the potential of the intrinsic apoptotic pathway is progressively reduced and that such repression is associated with downregulation of apoptotic protease-activating factor-1 (Apaf-1) and caspase-3 gene expression. (jneurosci.org)
  • These results suggest that differential expression of Apaf-1 and caspase-3 genes may underlie regulation of apoptotic susceptibility during brain development, as well as after acute injury to mature brain, through the intrinsic pathway of caspase activation. (jneurosci.org)
  • Eldadah and Faden, 2000 ), we hypothesized that suppression of apoptotic capability during maturation of mammalian brain results from repression of genes involved in the caspase-3 activation pathway, and that injury-induced neuronal apoptosis in the mature brain results from reactivation of these genes. (jneurosci.org)
  • B-Raf is a protein encoded by the BRAF gene and is involved in the RAS/MAPK pathway, which regulates cellular growth and division. (news-medical.net)
  • RAF genes encode serine and threonine kinase proteins downstream of Ras in the pathway. (news-medical.net)
  • Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. (nih.gov)
  • While SOS2 is a natural candidate, because of its homology with SOS1, the functional role of LZTR1 in the RAS/MAPK pathway is not known, and it could not have been identified without the large pedigrees. (nih.gov)
  • To date, dysregulation in the RAS pathway have been linked to debilitating disorders like autism, cancer, Noonan syndrome, Costello syndrome and Neurofibromatosis. (bigthink.com)
  • They have some overlapping symptoms as well as mutations of genes within the RAS signaling pathway. (bigthink.com)
  • It has been hypothesized that inactivation of the RASSF1A tumor suppressor facilitates K-RAS-mediated transformation by uncoupling it from apoptotic pathways such as the Hippo pathway. (cancerindex.org)
  • Ras activated by this mechanism drives the PI3K pathway to initiate expression of cell growth genes. (biolegend.com)
  • Mice lacking the gene for Dmp1 commonly develop lung tumors, and Dmp1 has been identified as a regulator of the Arf-p53 pathway in vitro. (eurekalert.org)
  • We have demonstrated that the hDMP1 gene is hemizygously deleted in a significant percentage of mouse and human non-small-cell lung carcinomas, especially those which retained the intact Arf-p53 pathway," explains Dr. Inoue. (eurekalert.org)
  • The Ras-Raf-MEK-ERK pathway plays a central role in tumorigenesis and is a target for anticancer therapy. (aging-us.com)
  • The successful strategy based on the activation of cell death in Ras-expressing cells is associated with the suppression of kinases involved in Ras pathway. (aging-us.com)
  • Our data show that suppression of MEK/ERK pathway in senescent cells provides a new strategy for elimination of Ras-expressing cells. (aging-us.com)
  • Despite a large number of promising inhibitors for Ras/Raf/MEK/ERK pathway, recent works show that cancer cells often develop an autophagy-dependent resistance to inhibitors of Ras pathway [ 16 ]. (aging-us.com)
  • Oncogenic Ras induces the constitutive activation of Ras/Raf/MEK/ERK signaling pathway, which, in turn, activates other effector pathways, in particular, PI3K-mTOR signaling [ 17 ]. (aging-us.com)
  • FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
  • The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. (stanford.edu)
  • PTPN11 Mutations in the Ras-MAPK Signaling Pathway Affect Human White Matter Microstructure. (stanford.edu)
  • Germline activating mutations to the PTPN11 gene cause overactivation of the Ras-Mitogen-Activated Protein Kinase pathway. (stanford.edu)
  • TSC is characterized by autosomal-dominant mutations in the TSC1 or TSC2 genes (encoding for the protein Hamartin on chromosome 9q34 and Tuberin on chromosome 16q13 respectively) leading to overactivation of the mTOR (mechanistic target of rapamycin) pathway with increased cell proliferation and a range of other consequences. (uspharmacist.com)
  • Inhibiting an enzyme in the growth-promoting Ras pathway could stop the childhood cancer rhabdomyosarcoma. (cancer.gov)
  • Their studies, published in Science Translational Medicine , suggest that blocking a protein in the Ras signaling pathway known as MEK may be an effective treatment for the subset of rhabdomyosarcomas that are driven by Ras mutations. (cancer.gov)
  • MicroRNA-543 promotes cell invasion and impedes apoptosis in pituitary adenoma via activating the Wnt/β-catenin pathway by negative regulation of Smad7. (cancerindex.org)
  • [4] The NF1 gene encodes for neurofibromin, which negatively regulates the RAS protein in the mitogen-activated protein kinase (MAPK) pathway. (aao.org)
  • Non-NF1-associated PA and PMA may be the result of an oncogenic tandem duplication at 7q34 that results in a KIAA1549-BRAF fusion gene with constitutive BRAF kinase activity and MAPK pathway activation. (aao.org)
  • Genes within the Mitogen Activated Protein Kinase (MAPK) pathway are frequently mutated driver oncogenes in cancer. (ladydavis.ca)
  • Ras is a GTPase that is anchored to the intracellular side of the plasma membrane through its post-translational lipid modifications. (biolegend.com)
  • DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. (antikoerper-online.de)
  • Ras GTPase is frequently mutated in different types of cancers that correlate with a poor prognosis [ 11 - 15 ]. (aging-us.com)
  • The GTPase signalling molecules RhoA and Rac1 regulate merlin function, but to date only mutation in the NF2 gene has been identified as a causal event in schwannoma formation. (bmj.com)
  • Des mutations dans le gène SYNGAP1, qui code pour une protéine activatrice GTPase de Ras, sont liées à la déficience intellectuelle chez l'humain. (umontreal.ca)
  • De novo mutations in the SYNGAP1 gene, coding for a GTPase-activating protein, causes moderate to severe intellectual disability. (umontreal.ca)
  • The RASA1 gene encodes p120 Ras GTPase-activating protein. (medscape.com)
  • When mutated, p120 Ras GTPase-activating protein binds to Krev-1/rap1a, an integrin β1-mediated cell adhesion and angiogenesis protein. (medscape.com)
  • The genome-wide search for disease-causing variations in the SH2 domains revealed eight genes: Bruton tyrosine kinase (BTK), SH2 domain-containing protein 1A (SH2D1A), Ras GTPase activating protein (RasGAP), tyrosine protein kinase Zap-70, SHP-2, the p85α subunit of the PIP3 kinase (PI3-K), signal transducer and activator of transcription 1α/β (STAT1) and STAT5B. (lu.se)
  • There are three Ras genes that generate four almost identical proteins: HRAS, NRAS, KRAS4A and KRAS4B [ 2 ]. (nature.com)
  • How does a family of Ras proteins that share a common set of activators and effectors generate isoform-specific engagement with cancer-associated signaling networks? (nature.com)
  • Increasingly, mutations in genes that encode postsynaptic proteins belonging to the PSD-95 protein complex, continue to be identified in neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability and epilepsy. (nih.gov)
  • Ras signaling can be thought of in simple terms as occuring downstream of receptor tyrosine kinases, triggered by association of adaptor proteins with the phosphorylated cytoplasmic tails of these receptors. (sdbonline.org)
  • Instead, the protein product of K-Ras activates a complex cascade of other proteins to ultimately lead to cellular changes. (pancan.org)
  • One of the key proteins activated by K-Ras is called MEK. (pancan.org)
  • The RAS family of proteins have a unique role. (bigthink.com)
  • As RAS is activated by incoming signals, it turns on other proteins and genes involved in cell development and cell differentiation. (bigthink.com)
  • Our current studies are designed to identify potential signaling pathways connecting increased TEAD-1 expression in skeletal muscle to activation of genes encoding proteins typically restricted to slow-twitch fibers, as well as satellite cell numbers that exceed homeostatic numbers associated with slow-fibers. (missouri.edu)
  • STAT proteins - especially STAT3 and STAT5 - regulate all of these processes and are persistently activated in a surprisingly large number of human cancers. (researchgate.net)
  • Using the protein-protein interaction analysis we observed strong interactions between the proteins produced by genes that are associated with cervical cancer. (jcancer.org)
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • GS-002 also induced endoplasmic reticular (ER) stress as evidenced by increases in ER stress-responsive proteins including glucose-regulated protein 78 (GRP78), growth arrest- and DNA damage-inducible gene 153 (GADD153), phosphorylated eukaryotic initiation factor 2 α (eIF2 α ), phosphorylated protein endoplasmic-reticular-resident kinase (PERK), and ATF-3. (hindawi.com)
  • At the most fundamental level it must relate to the opportunity and capacity of each Ras isoform to interact with and activate key effector pathways. (nature.com)
  • This is currently best expressed in the Ras "sweet-spot" model that suggests that Ras dosage (expression and signaling strength imparted by specific mutations) will be a major factor in influencing the availability of individual Ras family members to engage cancer pathways [ 4 ]. (nature.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • TBC1D15 activated three novel oncogenic pathways to promote self-renewal, p53 loss, and Nanog transcription in TICs. (nature.com)
  • Preclinical research indicates that the active metabolite of vitamin D, 1alpha,25(OH)2D3, also known as calcitriol, or vitamin D analogues might have potential as anticancer agents because their administration has antiproliferative effects, can activate apoptotic pathways and inhibit angiogenesis. (researchgate.net)
  • 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)
  • Furthermore, environmental estrogens, such as Bisphenol A, activate MCs in preclinical models but their impact on pain pathways or migraine is understudied. (frontiersin.org)
  • The molecular underpinnings common to and connecting these disorders are not known, but may include shared genetic risk factors ( 1 , 8 ), regulation of brain cations ( 9 , 10 ), or common receptor signaling events that activate pain ( 11 ), inflammation ( 12 ), or oxidative ( 13 ) pathways. (frontiersin.org)
  • The induction of ATF-3 expression was mediated by mitogen-activated protein kinase (MAPK) signaling pathways in GS-002-treated cells. (hindawi.com)
  • Since endothelial dysfunction precedes overt atherosclerosis, investigating the ability of drugs to activate cytoprotective signalling pathways that prevent or reverse endothelial dysfunction is an attractive research strategy. (bmj.com)
  • Many genes involved in metabolic pathways have been found to contribute to lipid level variability [ 14 , 26 , 27 ]. (cdc.gov)
  • This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. (nih.gov)
  • This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. (nih.gov)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • Activating mutations in TERT, which encodes telomerase reverse transcriptase, have been described in about 15% of FTCs and are associated with the worst clinical features and prognosis. (medscape.com)
  • Additional functional studies are needed to elucidate the role of LZTR1 in RAS/MAPK signalling and in the pathogenesis of Noonan syndrome. (nih.gov)
  • Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities. (stanford.edu)
  • We examined: (1) How Ras-MAPK activating variants of PTPN11/SOS1 protein-coding genes affect brain anatomy. (stanford.edu)
  • We provide evidence for the effects of Ras-MAPK pathogenic variants on striatal and cortical anatomy as well as links between PTPN11 gene expression and cortical SA increases, and striatal volume and inhibition skills. (stanford.edu)
  • These findings provide essential translational information on the Ras-MAPK pathway's effect on human brain development and function. (stanford.edu)
  • The purpose of this study was to assess the extent of involvement of ras oncogenes in osteosarcoma. (cun.es)
  • Supplemental studies were performed to compare the metabolism and toxicokinetics of oxazepam in the two mouse strains, to evaluate the effect on liver cell replication rates, to perform clinical pathology assessments, and to examine the mutation spectrum and frequency of activated H-ras oncogenes in liver neoplasms from the 2-year study with B6C3F1 mice. (nih.gov)
  • 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)
  • GTP-bound Ras activates Raf to trigger a phosphorylation cascade involving mitogen-activated protein kinases (MEKs). (biolegend.com)
  • The vast majority (about 90 percent) of pancreatic tumors have mutations in the K-Ras gene. (pancan.org)
  • In human lung tumors, combined activation of K-RAS and inactivation of RASSF1A is closely associated with the development of the most aggressive and worst prognosis tumors. (cancerindex.org)
  • Therefore, autophagy is currently considered as a promising target for anticancer therapy that can also be successful in mutant Ras-expressing tumors characterized by chemotherapy resistance due to the protective autophagy. (aging-us.com)
  • Investigators Marielle Yohe, M.D., Ph.D. , in CCR's Pediatric Oncology Branch and Javed Khan, M.D. , in CCR's Genetics Branch , explored how mutations in the Ras family of genes, cancer-driving mutations that are present in about a third of human tumors, influence the growth of rhabdomyosarcoma. (cancer.gov)
  • NRAS»HRAS protein expression in cells that correlate with the rank order of Ras mutation frequencies in cancer. (nature.com)
  • The B-Raf gene has two hotspots for mutation. (news-medical.net)
  • K-Ras becomes constantly activated by this mutation, signaling the cell to grow and ignore cues to stop growing. (pancan.org)
  • Importantly, Dmp1 overexpression inhibited growth of human lung cancer cells with K-ras mutation and wild-type Arf and p53. (eurekalert.org)
  • 5, 6 The NF2 gene is a tumour suppressor, as corroborated by studies showing complete inactivation of the gene in more than 60% of schwannomas, either by mutation in both alleles or by loss of one allele and mutation in the other. (bmj.com)
  • Other gene abnormalities have been found in PA and PMA, including a valine to glutamate substitution at position 600 (BRAF V600E mutation). (aao.org)
  • BRAF gene mutation testing has emerged as an important tool for diagnosis, prognosis, treatment, and predicting patient outcome in response to targeted therapy for multiple cancer types. (medscape.com)
  • The BRAF gene mutation test result is positive (ie, a mutation is present) if V600E is found in the BRAF gene. (medscape.com)
  • V600E is the most common gene mutation for the BRAF gene and is the most common mutation tested for in clinical laboratories. (medscape.com)
  • Preliminary tests, such as BRAF mutation testing, may be useful in determining which patients are likely to benefit from full gene sequencing. (medscape.com)
  • [ 9 ] Thus, persons with colorectal cancers with the BRAF mutation may be unlikely to have HNPCC, and further testing with full gene sequencing is probably unwarranted. (medscape.com)
  • Vousden's recent research has centred on p53, a gene which plays a critical role in preventing the development of tumours by inducing cells subject to stress, such as DNA damage, to commit suicide via the apoptosis mechanism. (wikipedia.org)
  • Mutant K-RAS has been shown to have both tumor-promoting and -suppressing functions, and growing evidence suggests that the RASSF family of tumor suppressors can act as RAS apoptosis and senescence effectors. (cancerindex.org)
  • Activating transcription factor-(ATF-) 3, a stress-inducible transcription factor, is rapidly upregulated under various stress conditions and plays an important role in inducing cancer cell apoptosis. (hindawi.com)
  • Based on differentially expressed genes, possible mechanisms of SWCNT-associated apoptosis resistance and oncogenesis were identified, which included activation of pAkt/p53/Bcl-2 signaling axis, increased gene expression of Ras family for cell cycle control, Dsh-mediated Notch 1, and downregulation of apoptotic genes BAX and Noxa. (cdc.gov)
  • Finally, direct measurement of mutant versus wildtype KRAS protein abundance revealed a frequent imbalance that may suggest additional non-gene duplication mechanisms for optimizing oncogenic Ras dosage. (nature.com)
  • Lower levels of expression will influence relative activity and be insufficient to initiate tumorigenesis, whilst too much Ras will induce oncogenic stress. (nature.com)
  • The oncogenic role of TLR4 activated by endotoxin has been confirmed by others in a different liver tumor model 10 . (nature.com)
  • Purpose: Gene fusions are important oncogenic drivers and many are actionable. (researchgate.net)
  • Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)
  • Paraffin-embedded tumor samples from diagnostic biopsies, from tumor en bloc resection tissue after neoadjuvant chemotherapy, and samples from metastases were examined in search of point mutations in H, K, and N-ras genes at codons 12 and 61 by means of polymerase chain reaction (PCR), slot-blotting, and radioactive labeled specific DNA probes. (cun.es)
  • No point mutations activating these genes were found. (cun.es)
  • These findings suggest that the activation by point mutations at codons 12 and 61 of the H, K, and N-ras genes does not play a role in the pathogenesis of human osteosarcoma. (cun.es)
  • Since no point mutations in codons 12 and 61 were detected, it was not possible to establish any correlation between the ras genes and clinical or histologic findings. (cun.es)
  • While the observation that NHR-67 forms punctae associated with transcriptional repressors in non-invasive cells is intriguing, the work does not yet established a clear link between the formation and dissolution of NHR-67 condensates with the activation of downstream genes that NHR-67 is actively repressing. (elifesciences.org)
  • Inhibition of the kinase domain is halted through binding of the Ras-binding domain, or residues 155-227 of the protein, to the Ras-GTP effector domain. (news-medical.net)
  • METHODS/RESULTS: Using permanent and primary human bronchial epithelial (HBE) cells at air-liquid interface, we show that DEPs activate the human MMP-1 gene via RAS and subsequent activation of RAF-MEK-ERK1/2 mitogen-activated protein kinase signaling, which can be scaffolded by beta-arrestins. (duke.edu)
  • Antigen binding to the T cell receptor (TCR) can also lead to Ras signaling through activation of phospholipase C (PLC) and protein kinase C (PKC). (biolegend.com)
  • MTX increases intracellular accumulation of adenosine monophosphate (AMP) and 5-aminoimidazole-4-carboxamide ribonucleotide which activates AMP-activated protein kinase (AMPK). (bmj.com)
  • The researchers demonstrated that Dmp1 also showed haploid insufficiency, meaning that cancer developed even when one copy of the gene was present, in samples from lung cancer patients with non-small-cell lung cancers. (eurekalert.org)
  • The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al. (antikoerper-online.de)
  • A diagram showing the major cancer genes for some cancers. (cancerquest.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)
  • Emerging targeted therapies for subsets of BRAF and RAS mutated cancers have had profound clinical impacts on cancer patient survival and quality of life. (ladydavis.ca)
  • Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. (nih.gov)
  • A cohort of 50 Brazilian probands negative for pathogenic variants in the known genes associated with Noonan syndrome was tested through whole-exome sequencing along with the relatives in the familial cases. (nih.gov)
  • Several transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
  • For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
  • Dysregulation of PI3K/AKT can be triggered by activating mutations in a variety of genes, including RAS, PIK3CA , and AKT1, as well as by inactivation of PTEN . (medscape.com)
  • [ 7 ] Full gene sequencing, albeit expensive, can detect all of the defective mismatch repair genes in HNPCC. (medscape.com)
  • Mispair-bound human MutS-MutL complex triggers DNA incisions and activates mismatch repair. (cdc.gov)
  • We suggest that in most cases, being the most abundant Ras isoform correlates with occupying the sweet-spot and that HRAS and NRAS expression is usually insufficient to promote oncogenesis when mutated. (nature.com)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • Expression of one copy of wild type Gap1 under control of the sev enhancer/ promoter cassette ( sevGap1 ) rescues the complete loss-of-function eye phenotype, while creating no phenotypic defects when placed in a wild type background containing two copies of the endogenous Gap1 gene. (sdbonline.org)
  • He will accomplish this by systematically turning off the expression of various genes in pancreatic cancer cells, in the presence of MEK inhibition, and then identifying which combination (or combinations) is toxic to the cells. (pancan.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • This study aims to explore its mechanism by defining changes in gene expression between neoplastic and normal tissue samples before and after treatment. (karger.com)
  • 687 genes differentiated tumor samples before and after treatment, among which 310 genes did not show the same differential expression in the placebo group or normal samples. (karger.com)
  • TEA domain-1 (TEAD1) transcription factor participates in both slow oxidative fiber type gene expression and plays a role in satellite cell biology. (missouri.edu)
  • This ultimately results in the translocation of ERK to the nucleus where it phosphorylates and activates a number of transcription factors like Elk1, initiating expression of genes that promote cell survival and growth. (biolegend.com)
  • Dmp1 is a unique tumor suppressor that activates Arf expression and thus induces p53-dependent cell cycle arrest. (eurekalert.org)
  • 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)
  • Using semi-quantitative reverse-transcription polymerase chain reaction (RT-PCR) and western blots experiments, we compared changes in ETS-1 and ETS-2 expression, their protein levels, and the regulation of some of their target gene expressions at different stages of the ocular tumoral progression in the transgenic mouse model, Tyrp-1-TAg, with those in normal eyes from control mice of the same age. (molvis.org)
  • 2) The relationship between PTPN11 gene expression levels and brain anatomy, and (3) The relevance of subcortical anatomy to attention and memory skills affected in the RASopathies. (stanford.edu)
  • Further, SA effects were associated with increasing PTPN11 gene expression, most prominently in the temporal lobe. (stanford.edu)
  • ATF-3 induces DNA synthesis and expression of cyclin D1 in hepatocytes [ 21 ] and is involved in serum-induced cell proliferation as a target gene of c-myc [ 10 ]. (hindawi.com)
  • Expression of this gene is induced by TGFBR1. (cancerindex.org)
  • Gene expression profile of human lung epithelial cells chronically exposed to single-walled carbon nanotube s. (cdc.gov)
  • Here, we further examined the gene expression profile by using genome microarrays to profile molecular mechanisms of SWCNT oncogenesis. (cdc.gov)
  • Transcription factors (TFs) are critical for B-cell differentiation, affecting gene expression both by repres- sion and transcriptional activation. (lu.se)
  • 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)
  • The identified transcription factors influence both the global and specific gene expression of the BCLs and have possible implications for diagnosis and treat- ment. (lu.se)
  • Microarray profiling of hypothalamic gene expression changes in Huntington's disease mouse models. (lu.se)
  • There are three human RAF genes: ARAF, CRAF-1, and BRAF. (news-medical.net)
  • Mutations of the BRAF gene can cause certain inherited diseases and birth defects. (news-medical.net)
  • Approximately 40-60% of cutaneous melanomas carry mutations in the BRAF gene.About 90% of these mutations are found to be V600E. (medscape.com)
  • K-ras, which lies upstream of BRAF , is mutated in 30-50% of colorectal cancersand is predictive of unresponsiveness to EGFR-inhibitor targeted therapy. (medscape.com)
  • However, for reasons that remain unclear, KRAS is far more frequently mutated than the other Ras isoforms in cancer and RASopathies. (nature.com)
  • RASSF1A Deficiency Enhances RAS-Driven Lung Tumorigenesis. (cancerindex.org)
  • Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
  • Here, by using genetically engineered mice and innovative touchscreen-based cognitive testing, we sought to investigate whether loss-of-function mutations in genes encoding key interactors of the PSD-95 protein complex display shared phenotypes in associative learning, updating of learned associations and reaction times. (nih.gov)
  • Numerous studies have linked intellectual disability with mutations in genes coding for protein active at the synapses. (umontreal.ca)
  • After attending Gravesend Grammar School for Girls,[citation needed] Vousden gained a Bachelor of Science degree in genetics and microbiology (1978) and a PhD from Queen Mary College, University of London on the use of suppressor gene mutations to study transfer RNA redundancy in the fungus Coprinus. (wikipedia.org)
  • These data provide insights for understanding how human mutations in these genes lead to the manifestation of diverse and complex phenotypes in NDDs. (nih.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Variations in these genes cause nine distinct clinical phenotypes. (lu.se)
  • Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes. (cancerindex.org)
  • MCs can secrete nociceptor sensitizing and activating agents, such as serotonin, prostaglandins, histamine, and proteolytic enzymes that can also activate the pain-mediating transient receptor potential vanilloid channels. (frontiersin.org)
  • Syngap1 haploinsufficiency increases activity level of Ras-ERK-mTOR, causing excessive insertion of AMPA receptor at the postsynaptic membrane of excitatory neurons and affects spine morphology. (umontreal.ca)
  • We describe the role of allelic polymorphism in the gene coding for the CCR5 chemokine receptor with regard to susceptibility to and disease course of HIV infection. (cdc.gov)
  • Earlier HIV infec- receptor gene polymorphism in HIV infection, tion diagnosis, inhibition of ongoing HIV replica- only genes of the HLA system were thought to tion with antiretroviral therapy (in industrialized protect against HIV infection. (cdc.gov)
  • We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies. (nih.gov)
  • Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
  • Ras genes are mutated in ~20% of all human cancer cases [ 1 ]. (nature.com)
  • Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). (nih.gov)
  • Diesel exhaust particles activate the matrix-metalloproteinase-1 gene in human bronchial epithelia in a beta-arrestin-dependent manner via activation of RAS. (duke.edu)
  • Mutations that activate the oncogene K-ras or interfere with the tumor suppressors p53 and Arf are common in human NSCLCs. (eurekalert.org)
  • We studied whether cellular senescence induced by HDAC inhibitor sodium butyrate in E1a+cHa-Ras -transformed rat embryo fibroblasts (ERas) and A549 human Ki-Ras mutated lung adenocarcinoma cells would enhance the tumor suppressor effect of MEK/ERK inhibition. (aging-us.com)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • Studies of human umbilical vein endothelial cells (HUVEC) and arterial endothelial cells (HAEC) showed that therapeutically relevant concentrations of MTX phosphorylate AMPKα Thr172 , and induce cytoprotective genes including manganese superoxide dismutase (MnSOD) and haem oxygenase-1 (HO-1). (bmj.com)
  • The role of genes ceptibility to HIV infection and the course of HIV of the human leukocyte antigen (HLA) system in disease. (cdc.gov)
  • They believe these individuals may have certain genes that are activated by a trigger in the environment, such as a virus or bacteria, physical or emotional stress or some other external factor. (arthritis.org)
  • These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
  • The NF2 gene is a tumour suppressor on chromosome 22. (bmj.com)
  • In 1986, the NF2 gene was mapped to chromosome 22, and in 1993, two groups independently isolated the gene and named its encoding protein merlin or schwannomin. (bmj.com)
  • Genetic studies have mapped capillary malformations to chromosome 5q14-21, showing a defect in the RASA1 gene. (medscape.com)
  • This can provide Ras-expressing tumor cells additional selective advantages under stress or damage. (aging-us.com)
  • Because efforts to inhibit K-Ras as a means to stop the growth of pancreatic cancer have been unsuccessful, Dr. Collisson is opting to target MEK's activity instead. (pancan.org)
  • Here, we describe the first transgenic mouse model for activation of K-RAS in the lung in a RASSF1A-defective background. (cancerindex.org)
  • Dr. Inoue and colleagues conducted a study designed to investigate the collaborative effects of Dmp1 deletion and K-ras activation in the genesis and progression of lung cancer. (eurekalert.org)
  • Since hDMP1 loss-of-heterozygosity lung cancer cells retain one allele of the hDMP1 locus, this gene might be a promising target for future drug development. (eurekalert.org)
  • 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)
  • Using data from the second phase (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III), we examined associations between 22 polymorphisms in 13 candidate genes and four serum lipids: high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TG). (cdc.gov)
  • A growing body of literature implicates the peroxisome proliferators-activated receptors (PPARs) in the pathogenesis and treatment of NAFLD. (wjgnet.com)
  • L'haploinsuffisance de Syngap1 augmente les niveaux d'activité de la voie Ras-ERKmTOR, une insertion excessive de récepteurs AMPA à la membrane postsynaptique des neurones excitateurs et affecte la morphologie des épines dendritiques. (umontreal.ca)
  • Dans les modèles de souris, les déficits cognitifs sont dus en partis à la réduction de l'expression de SYNGAP1 dans la circuiterie GABAergique. (umontreal.ca)
  • Nos résultats suggèrent que les mécanismes d'haploinsuffisance de Syngap1 sont en partie similaire dans les interneurones GABAergiques que dans les neurones glutamatergiques. (umontreal.ca)
  • Several HLA genes or haplotypes immunodeficiency virus (HIV) as of mid-1996 (1). (cdc.gov)
  • Mice homozygous for a gene trap allele exhibit reduced survival and decreased tumor latency. (jax.org)
  • Inconsistencies might be caused by differences in study design, study populations (geographic and ethnic background), statistical methods and power, allele frequencies, and gene-environment interactions. (cdc.gov)
  • The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. (cancerindex.org)
  • Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). (cancerindex.org)
  • Objectives: Endoscopic submucosal dissection (ESD) is an effective procedure for the en bloc resection of colorectal neoplasms. (bvsalud.org)
  • Mutations in these genes are responsible for approximately 3% of all patients with Noonan syndrome. (nih.gov)
  • Activating mutations cause Noonan syndrome (NS), a developmental disorder associated with hyperactivity and cognitive weakness in attention, executive function, and memory. (stanford.edu)
  • To prevent it being activated inappropriately, p53 is strictly controlled in the normal cell. (wikipedia.org)
  • Given this rather grand position in the cell, you can imagine that problems with RAS can lead to a wide variety of issues. (bigthink.com)
  • The genes that have been identified to date have been categorized into two broad categories, depending on their normal functions in the cell. (cancerquest.org)
  • This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
  • Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
  • Many of these genes are responsible for providing the positive signals that lead to cell division. (cancerquest.org)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • They found that an enzyme activated by MEK called ERK2 not only switches on genes involved in cell division, it also keeps a gene called MYOG , which helps orchestrate myoblasts' transformation to more mature muscle cells, turned off. (cancer.gov)
  • This causes adaptor protein GRB2 to recruit SOS, a guanine nucleotide exchange factor, which then facilitates binding of GTP to Ras. (biolegend.com)
  • CREB siRNA inhibited upregulation of both cytoprotective genes by MTX, while chromatin immunoprecipitation demonstrated CREB binding to the MnSOD promoter in MTX-treated EC. (bmj.com)
  • Further, we attempted to validate our results in another independent cervical cancer GWAS from the East Asian population ( N = 3,314) and re-discovered four genes including WDR19 , HLA-DOB , MICB and OR2B8P . (jcancer.org)
  • The difficulty is that the causal genes mediating SNP effects on cervical cancer can be rarely ascertainable with GWAS data alone because of complicated linkage disequilibrium (LD) [ 11 ]. (jcancer.org)
  • The discovery of the gene sequences and predicted protein structures, role of CCR5 alleles has prompted studies of but their ligands have not been identified the possible role of many other host genes in (orphan receptors). (cdc.gov)
  • With an autoimmune disease like RA, the immune system mistakes the body's cells for foreign invaders and releases inflammatory chemicals that attack those cells. (arthritis.org)
  • According to recent data, Ras-transformed cells require autophagy to survive and maintain malignant phenotype [ 5 - 10 ]. (aging-us.com)
  • Given that autophagy is initiated upon suppressed mTORC1 activity, a protective autophagy in Ras-transformed cells with a high level of mTORC1 activity appears to be mTORC1-independent [ 20 , 21 ]. (aging-us.com)
  • One of the mechanisms of high basal autophagy activity in cancer Ras-expressing cells might be associated with high PP2A phosphatase activity targeting directly ULK1-Ser757 that could explain apparent contradiction: maintenance of high mTORC1 functions and high autophagic activity simultaneously [ 22 ]. (aging-us.com)
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • When the body's immune system detects a developing tumor, it activates various immune cells that work together to kill the suspicious cells. (nih.gov)
  • The team screened more than 1,900 drugs and found those that inhibited MEK signaling, including the FDA-approved cancer drug trametinib, dramatically slowed the growth of Ras -driven rhabdomyosarcoma cells. (cancer.gov)
  • Pre- hematopoietic and other cells, but the Duffy sence of one copy of the deleted CCR5 gene also antigen of erythrocytes (DARC) is the only influences the course of disease as the onset of member expressed on cells of erythroid lineage. (cdc.gov)
  • The protein products of the three Ras genes are almost identical. (nature.com)
  • Rheumatoid arthritis (RA) causes joint inflammation and pain. (arthritis.org)