• [ 126 ] Similarly, irradiation of newborn Ptch1 heterozygous mice results in dramatic enhancement of Hh-induced medulloblastoma, indicating that ionizing radiation-induced damage and genomic instability may cooperate with Ptch1 germline mutations to induce medulloblastoma. (medscape.com)
  • Li-Fraumeni syndrome has been linked to germline mutations of the tumor suppressor gene TP53. (medscape.com)
  • 10] Approximately 70% of Li-Fraumeni syndrome kindreds and 40% of Li-Fraumeni-like families have germline mutations in the TP53 tumor suppressor gene. (medscape.com)
  • 11, 3] Over 767 germline mutations and 29, 881 somatic mutations have been identified in the TP53 gene. (medscape.com)
  • These mutations, classified as germline mutations, are typically inherited and are present in essentially all of the body's cells. (medlineplus.gov)
  • Together, the germline and somatic mutations impair the function of proteins that regulate division and senescence, leading to uncontrolled cell growth and the formation of a melanoma. (medlineplus.gov)
  • Germline mutations affecting the CDKN2A gene are associated with other cancers, including breast cancer and pancreatic cancer. (medlineplus.gov)
  • These genetic changes can occur by multiple mechanisms that can be inherited (found in the germline) or acquired (somatic). (medscape.com)
  • Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome. (medscape.com)
  • Although germline mutations are less commonly linked to cancer development , several cancers are known to have a significant familial component. (frontlinegenomics.com)
  • Importantly, and in contrast to most reports in adults, the majority of CBL mutations in JMML patients are germline with acquired uniparental disomy occurring in affected marrow cells. (haematologica.org)
  • Neither clinical features nor methylation profiling were able to distinguish patients with somatic CBL mutations from those with germline CBL mutations, highlighting the need for germline testing. (haematologica.org)
  • B, CCND1-positive staining (brown by immunoperoxidase) in the nuclei of BE lesion cells from a patient who was germline MSR1 -mutation positive. (jamanetwork.com)
  • An accumulation of mutant genes that control the cell cycle, maintain genomic stability, and mediate apoptosis is central to carcinogenesis. (nih.gov)
  • Thus, germ line mutations or polymorphisms of genes that govern them may also contribute to spontaneous cancer. (nih.gov)
  • The proteins encoded by these genes were found to interact with DNA recombinase RAD51, which alluded to their role in homologous recombination (HR). Loss of function mutations in these genes was shown to result in increased genomic instability, which suggested their role as caretakers of the genome. (nih.gov)
  • Somatic mutations in other genes involved in cell growth are also needed for a melanoma to develop. (medlineplus.gov)
  • The tumor cell panels in the genetic alteration collection are organized around genes that have important implications for cancer research. (atcc.org)
  • For validation of potential cancer driver genes, functional profiling and molecular profiling of subtype-specific cancer cell lines, and testing small molecules or biologics for cancer drug development. (atcc.org)
  • Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)
  • Proto-oncogenes are genes that function normally in healthy cells to promote growth and proliferation. (medscape.com)
  • The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)
  • Of the 110 identified genes, those involved in post-translational modification, cell division and/or transcriptional regulation were upregulated, while those involved in redox reactions were downregulated in tumors of patients with poor prognosis. (biomedcentral.com)
  • Mutation signature analysis identified that somatic mutations in HCC tumors were mainly non-synonymous, frequently affecting genes in the micro-environment and cancer pathways. (biomedcentral.com)
  • Recurrent mutations occur mainly in ribosomal genes. (biomedcentral.com)
  • Genes involved in cell cycle progression, DNA repair, cytoskeletal and extracellular matrix were frequently reported to be up-regulated in HCC while immune response and metabolic enzyme genes were found to be down-regulated [ 5 ]. (biomedcentral.com)
  • Breast carcinogenesis likely results from uncontrolled cellular proliferation and/or abnormal apoptosis, stemming from cumulative genetic injuries that activate proto-oncogenes and/or inactivate tumor suppressor genes. (oncologynurse-ce.com)
  • Gene expression analysis of TNBC has also revealed that there is either mutation or aberrant expression of tumor suppressor gene p53 ( TP53 ) and several DNA repair genes, particularly the breast cancer susceptibility genes ( BRCA) , which may harbor implications for chemotherapeutic sensitivity to platinum and other DNA-damaging agents. (oncologynurse-ce.com)
  • Moreover, retrotransposon MERVL and genes in the 2-cell embryo are sporadically activated in only a small proportion (1%-5%) of ESC cultures 17 , 18 . (nature.com)
  • Here, we identified a general suppression of genes associated with aerobic metabolism in peripheral blood mononuclear cells (PBMCs) from HD patients compared to controls. (nature.com)
  • With proteins required for almost all tasks of cellular life, preserving the integrity of our genes, and therefore DNA, is thus critical to upholding normal cell activity and survival. (clinuvel.com)
  • By altering the expression or structure of critical genes, these changes promote the excessive growth of cancer cells, eventually allowing them to spread and infiltrate other tissues. (frontlinegenomics.com)
  • Point mutations within genes are some of the most studied genetic abnormalities in oncological research. (frontlinegenomics.com)
  • Defined as simple base pair changes (including insertions, deletions and substitutions), point mutations in essential genes are a major contributor to oncogenesis. (frontlinegenomics.com)
  • Termed "driver genes", most are typically associated with regulation of cell growth, with mutations in cell cycle regulators and tumour suppressor genes being frequently observed. (frontlinegenomics.com)
  • Notable examples are breast and ovarian cancers, where certain pathogenic mutations in the BRCA1 and BRCA2 genes may substantially increase the risk of a woman developing cancer by 70 - 80 years of age. (frontlinegenomics.com)
  • High throughput genome sequencing of tumor DNA has elucidated low-frequency mutations in several genes that are highly likely to drive oncogenesis. (medscape.com)
  • qRT-PCR and western-blotting of A549 and H358 cells, as well as single-cell Seq data of tumor samples were applied to verify the tendency of certain genes. (biomedcentral.com)
  • Three of 6 (BATF3, IRF5, ZBTB38) genes were finally verified in cell level and patients in zs-cohort. (biomedcentral.com)
  • It hasn't been eradicated outright, because a lot of those ancient genes are still useful ("…the genes responsible for the cellular cooperation necessary for multicellularity are also the genes that malfunction in cancer cells. (rifters.com)
  • Chromosome structural variation, a vital kind of somatic mutation, is involved in the process of genomic rearrangement ranging from genes to entire chromosomes, and also affects gene expression regulation. (biomedcentral.com)
  • In addition, family-based studies have led to the identification of rare genetic variants in genes related to surfactant function and telomere biology, and mechanistic studies suggest pathophysiological derangements associated with these rare genetic variants are also found in sporadic cases of IPF. (ersjournals.com)
  • Rare genetic variants in eight genes have been implicated in familial interstitial pneumonia, the familial form of IPF, which broadly fall into two categories: genes related to surfactant protein processing and trafficking, and those linked to telomere biology. (ersjournals.com)
  • Cancer is mainly a genetic disease with mutations arising that can either activate proto-oncogenes or inactivate tumor suppressor genes. (biomedcentral.com)
  • From these putative alterations, 2356 potential somatic mutations in 1256 different genes were identified in the samples sequenced. (biomedcentral.com)
  • Once this criterion was applied ~68% of the potential alterations were removed, leaving 750 somatic base substitutions in 686 genes for further scrutiny. (biomedcentral.com)
  • [ 111 ] TP53 gene mutations are also associated with BCC, the majority being UVR-specific nucleotide changes. (medscape.com)
  • The following are the criteria for classic Li-Fraumeni syndrome, Li-Fraumeni-like syndrome, and the Chompret criteria, which provide guidelines for consideration of TP53 genetic testing. (medscape.com)
  • TP53, which is located on band 17p13.1, codes for a 53-kd nuclear protein transcription factor that has important regulatory control over cell proliferation and homeostasis, specifically the cell cycle, DNA repair processes, and apoptosis. (medscape.com)
  • Somatic (nongermline) TP53 tumor suppressor gene mutations are common in sporadic human cancers, suggesting that TP53 alterations play an important role in the development of cancer. (medscape.com)
  • Moreover, a broad range of cell line and transgenic animal experiments show direct involvement of TP53 mutations in malignant transformation. (medscape.com)
  • p53 is a tumor suppressor protein encoded by the TP53 gene that responds to DNA damage by regulating cell-cycle arrest, apoptosis, and senescence. (atcc.org)
  • Using next generation sequencing, somatic mutations in TERT promoter, TP53 and CTNNB1 were frequently reported to be mutated in HCC patients [ 6 ]. (biomedcentral.com)
  • Genomic instability caused by mutation of the checkpoint molecule TP53 may endow cancer cells with the ability to undergo genomic evolution to survive stress and treatment. (biomedcentral.com)
  • We attempted to gain insight into the potential contribution of ovarian cancer genomic instability resulted from TP53 mutation to the aberrant expression of multidrug resistance gene MDR1 . (biomedcentral.com)
  • TP53 mutation status was assessed by performing nucleotide sequencing and immunohistochemistry. (biomedcentral.com)
  • In addition to performing nucleotide sequencing for 5 cases of ovarian cancer, TP53 mutations were analyzed via immunohistochemical staining for P53. (biomedcentral.com)
  • Both intensive P53 immunohistochemical staining and complete absence of signal were associated with the occurrence of TP53 mutations. (biomedcentral.com)
  • Moreover, in 161 epithelial ovarian cancer patients, multivariate logistic analysis identified late FIGO (International Federation of Gynecology and Obstetrics) stage, serous histotype, G3 grade and TP53 mutation as independent risk factors for ovarian cancer recurrence. (biomedcentral.com)
  • TP53 mutation-associated genomic instability may promote chromosome 7 accumulation and MDR1 amplification during ovarian cancer chemoresistance and recurrence. (biomedcentral.com)
  • TP53 is a checkpoint molecule that maintains genomic stability, prevents cell mitosis and induces apoptosis following abnormal chromosome segregation or chemical damage to DNA sequences [ 9 , 10 ]. (biomedcentral.com)
  • P53, also known as TP53 or tumor protein is a gene that codes for a protein that regulates the cell cycle and hence functions as a tumor suppression [10] . (madridge.org)
  • TP53 was the most common mutation in the insensitive group, in contrast to TTN in the sensitive group. (biomedcentral.com)
  • TP53 in Germ Cell Tumours" Encyclopedia , https://encyclopedia.pub/entry/12420 (accessed November 29, 2023). (encyclopedia.pub)
  • Mutations/losses of the tumour-suppressor TP53 and amplification/gains of its regulator, MDM2, as well as WNT/CTNNB1 pathway aberrations, which are involved in developmental processes and stemness, have been deeply investigated in platinum-resistant and metastatic disease. (encyclopedia.pub)
  • The TP53 gene is mutated in around 50% of cancer cells, but in addition to its role in tumor suppression, cancer cells themselves can find ways to …Figure 2: Phosphorylation sites of human p53. (kritischderblog.de)
  • The Tp53 protein is a negative regulator of cell proliferation and a positive regulator of apoptosis in response to DNA damaging agents. (kritischderblog.de)
  • The gene encoding p53 (also known as TP53) is frequently mutated in human cancers, including colorectal, lung, brain, liver, bladder, and esophageal cancers [].Germ-line mutations in TP53 have been reported in Li-Fraumeni …The model characterizes crosstalk between the HIF-1 and p53 pathways upon hypoxia. (kritischderblog.de)
  • However, poly(ADP-ribosylation) represents a major mechanism to regulate genomic stability both when DNA is damaged by exogenous agents and during cell division, [ 125 ] pointing to genomic instability as a key element in the development of Hh-associated tumors. (medscape.com)
  • These p53 hotspot mutation cell panels are composed of select cell lines derived from tumors of various tissue origins. (atcc.org)
  • Thus, somatic mutations, and the consequent genomic instability may be an important driving force for the development of chemoresistance in malignant tumors. (biomedcentral.com)
  • 7, 8, 9] The Cancer Genome Atlas Network analyzed the somatic mutation spectrum of four mRNA-expression subtypes of breast tumors, and found that basal-like tumors differed substantially from luminal A, luminal B and HER2- enriched tumors. (medscape.com)
  • 10] Interestingly, breast basal-like tumors shared a number of molecular characteristics common to ovarian cancer such as the types and frequencies of genomic mutations, suggesting a related etiology and potentially similar responsiveness to some of the same therapies. (medscape.com)
  • Patient-derived xenograft (PDX) models are created when cancerous cells or tissues from patients' primary tumors are implanted into immunodeficient mice to simulate human tumor biology in vivo, which have been extensively used in cancer research. (biomedcentral.com)
  • Tumors from cancer patients ( P0 ) are fragmented or digested into single-cell suspension and then transplanted (directly or with additives such as Matrigel) into immunodeficient mice ( P1 ) for engraftment. (biomedcentral.com)
  • Because driver mutations are causative, it is therapeutic to target the function of resulting proteins or decrease the occurrence of structural variation in tumors. (biomedcentral.com)
  • At all stages of tumor progression, colon TAFs almost invariably accompany and envelope epithelial cells, lining tubular crypts in well differentiated, early tumors or surrounding adenomatous crypts in advanced tumors [ 1 - 3 ]. (oncotarget.com)
  • Loss of p53, which prevents the accumulation of genetic mutations by inducing cell cycle arrest, apoptosis or senescence of somatic cells after genotoxic and oncogenic stresses, also markedly enhances Hh-driven tumorigenesis in mice. (medscape.com)
  • Both proteins are also involved in stopping cell division in older cells (senescence). (medlineplus.gov)
  • The p53 protein is an important tumor suppressor that is essential for regulating cell division, senescence, and self-destruction (apoptosis). (medlineplus.gov)
  • The mechanisms responsible for this decay are both cell intrinsic, such as cellular senescence, as well as cell-extrinsic, such as changes in the regenerative environment. (mdpi.com)
  • They can also be activated during replicative senescence in mouse and human cells 20 . (nature.com)
  • Atherosclerosis and heart failure are particularly correlated with aging-related cardiovascular senescence, that is, the inability of cells to progress in the mitotic program until completion of cytokinesis. (hindawi.com)
  • Pathologies, as atherosclerosis, cardiac fibrosis, and cardiomyopathy, are often linked to the failure of cardiovascular tissue cells to reenter the cell cycle, namely, senescence, due to endogenous or exogenous causes. (hindawi.com)
  • This review will focus on the cardiovascular pathologies correlated to senescence, the effect of aging on the cardiac endogenous resources of stem cells, and the potential strategies of regenerative medicine to be applied to maintain the heart younger and healthier. (hindawi.com)
  • As demonstrated by the growing body of literature in the latest years, senescence is an important function involved in the maintenance of tissue homeostasis, as well as the more extensively studied apoptosis. (hindawi.com)
  • Mitotic cells might undergo senescence by failing to replicate. (hindawi.com)
  • While it is commonly accepted as an aging-related phenomenon, senescence might happen also during the embryonic development with the biological meaning of replacing transient structures or specific cell types with other ones [ 3 - 5 ]. (hindawi.com)
  • Activation of the cellular senescence genetic program prompts a series of molecular changes, mostly affecting cell cycle, extracellular matrix (ECM), secretion of growth factors, and inflammatory mediators. (hindawi.com)
  • Apoptosis and cellular senescence (aging) are normal mechanisms for cell death. (basicmedicalkey.com)
  • 1] Mutations found in pediatric malignancies can be categorized broadly into driver mutations and passenger mutations. (medscape.com)
  • In the discussion below, we will focus on driver mutations. (medscape.com)
  • It is estimated that 1 - 10 driver mutations are required for oncogenesis, although this number has been shown to vary depending on cancer type. (frontlinegenomics.com)
  • What causes driver mutations? (frontlinegenomics.com)
  • However, external factors (such as exposure to carcinogens or certain bacterial and viral species) can also cause DNA damage, which over time may result in the accumulation of driver mutations. (frontlinegenomics.com)
  • Driver mutations typically affect the protein sequence arising from a gene - often with functional consequences. (frontlinegenomics.com)
  • These data provide a proof-of-concept suggesting that individual metastases may have sufficient similarity for successful targeting of driver mutations. (biomedcentral.com)
  • MCL cells generally over-express cyclin D1 due to the t(11:14) translocation, a chromosomal translocation in the DNA. (wikipedia.org)
  • The main mechanisms for activation of proto-oncogenes consist of point mutations, amplifications, and chromosomal translocations. (medscape.com)
  • The development of next generation sequencing technologies in recent years has shed light on these cancer-causing genetic changes, which are largely split into three groups - mutations, gene amplifications and chromosomal rearrangements. (frontlinegenomics.com)
  • 26 27 In contrast, the chromosomal breakpoint in sBL and HIV-associated BL occurs most commonly in the class switch region, 28 but since both somatic hypermutation and class switching are events that are normally confined to GC B cells and GC centroblast markers are expressed on BL cells, the BL progenitor cells most likely arise from B cells subjected to chromosomal rearrangements in the GC. (bmj.com)
  • Widespread chromosomal genomic rearrangement and point mutations are underlying hallmarks of the cancer genome. (biomedcentral.com)
  • Genetic changes at a chromosomal scale are common in cancer. (sarcomahelp.org)
  • The cytokinesis-block micronucleus assay (CBMN) is a sensitive and simple indicator of chromosome damage, both chromosome loss and chromosome breakage, which also provides information on cell cycle progression and cytotoxicity. (praxilabs.com)
  • A defining characteristic of MCL is mutation and overexpression of cyclin D1, a cell cycle gene, that contributes to the abnormal proliferation of the malignant cells. (wikipedia.org)
  • Without p16(INK4A) to regulate cell growth and division (proliferation), cells can continue to grow and divide without control, which can lead to tumor formation. (medlineplus.gov)
  • At a fundamental level, cancer is caused by an accumulation of genetic changes that result in unregulated cell growth and proliferation. (medscape.com)
  • Genetic drivers are mutations or fusions that confer a survival advantage to "drive" malignant proliferation. (medscape.com)
  • Passenger mutations are additional mutations found in the cancers that do not contribute to cancer proliferation. (medscape.com)
  • PTEN encodes a protein kinase of the same name and functions as a tumor suppressor through regulation of cell proliferation. (medscape.com)
  • During the normal menstrual cycle, breast epithelium exhibits maximal proliferation during the luteal phase , when progesterone levels are at their highest and estrogen levels have begun to decline . (oncologynurse-ce.com)
  • For example, it is estimated that 15-20% of human tumours may contain point mutations in the Ras family of oncogenes (a group of GTPase switches which control cell proliferation). (frontlinegenomics.com)
  • Defined as any mass formed from the abnormal proliferation of cells, tumours may be either benign or malignant, depending upon their ability of invade surrounding tissue or spread to secondary sites within the body. (frontlinegenomics.com)
  • It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. (cancerindex.org)
  • In this study, the functional roles of Klf6 variants in the inhibition of cell proliferation induced by the disruption of Klf6 -related super enhancer in human hepatoma (HepG2) cells were evaluated. (springeropen.com)
  • As a result, the disruption of Klf6 -related super enhancer not only induced the upregulation of Klf6-SV2 but also led to a significant reduction of proliferation in HepG2 cells. (springeropen.com)
  • In conclusion, it was demonstrated that Klf6 -related super enhancer modulates cell proliferation via the regulation of Klf6-SV2 expression in human hepatoma (HepG2) cells. (springeropen.com)
  • We have already identified a Klf6 -related super enhancer in human HepG2 cells using genomic editing techniques and demonstrated that Klf6 -related SE regulates cellular proliferation as a potent regulator of Klf6 gene expression [ 21 ]. (springeropen.com)
  • We assumed that regulation of cell proliferation by Klf6 -related super enhancer may be associated with Klf6 variants in deeper study. (springeropen.com)
  • Signal transduction plays an important role in activating cellular functions, cell differentiation , and cell proliferation . (lookformedical.com)
  • PCNA expression correlates with the proliferation activity of several malignant and non-malignant cell types. (lookformedical.com)
  • Deficiencies in cellular defense mechanisms may also provoke spontaneous mutation. (nih.gov)
  • Mechanisms underlying many of those cellular defenses are under genetic control. (nih.gov)
  • The Molecular Mechanisms Section of the Laboratory of Retinal Cell & Molecular Biology studies vitamin A and lipid metabolism, and signaling and regulation processes central to vision and function of the retina and the retinal pigment epithelium (RPE). (nih.gov)
  • In order to fight cancer, researchers require an array of authenticated tumor cells to understand the mechanisms that drive carcinogenesis and metastasis, and to test new therapies. (atcc.org)
  • Useful for biological understanding of top genetic alterations in leukemia, studies related to p53 molecular mechanisms, and testing small molecules or biologics for cancer drug development. (atcc.org)
  • However, the relationships and mechanisms underlying short or dysfunctional telomere-induced mutations and genomic instability remain elusive. (nature.com)
  • Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which was responsible for the COVID-19 pandemic, efficiently spreads cell-to-cell through mechanisms facilitated by its membrane glycoprotein spike. (bvsalud.org)
  • This includes developing mutations which enable sustained proliferative signalling, replicative immortality, and resistance to cell death mechanisms. (frontlinegenomics.com)
  • Genetic and epigenetic mechanisms initiate the progression of cancer. (medscape.com)
  • However, the "Achilles heel" of cancer treatment has been failure of current treatments because of the emergence of genetic mechanisms of drug resistance. (medscape.com)
  • By now, at least four distinct classes of mechanisms by which cancer cells become resistant to cisplatin-based chemotherapy have been developed and targeting at least two distinct mechanisms might be the most successful strategies for circumventing resistance [ 10 ]. (biomedcentral.com)
  • These results strongly circumscribe the possible mechanisms of PINK1 action in the mitochondrial life cycle and also raise the possibility that mitochondrial turnover events that occur in cultured embryonic axons might be restricted to the cell body in vivo, in the intact nervous system. (sdbonline.org)
  • Epstein-Barr virus (EBV) infection, malaria, immunodeficiency and spontaneous, somatic mutation can all contribute to the origin and maintenance of this cancer and their mechanisms are the subject of this review. (bmj.com)
  • Monoclonal antibodies that target cellular antigens induce cell death by a variety of mechanisms that involve the host immune system. (basicmedicalkey.com)
  • One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). (lookformedical.com)
  • In this review, we provide our current understanding of the fate of damaged mtDNA, focus on the pathways and mechanisms of removing damaged mtDNA in the cell. (biomed.news)
  • Here, we discuss the contribution of defective mitophagy in TBI, and the underlying molecular mechanisms of mitophagy in inflammation, oxidative stress, and neuronal cell death highlight novel therapeutics based on newly discovered mitophagy-inducing strategies. (biomed.news)
  • For a long time, genetic manipulation of mammalian mtDNA has posed a major challenge, impeding our ability to understand the basic mitochondrial biology and mechanisms underpinning mitochondrial disease. (biomed.news)
  • MCL, like most cancers, results from the acquisition of a combination of (non-inherited) genetic mutations in somatic cells. (wikipedia.org)
  • Put simply, DNA mutations the primary cause of all skin cancers. (clinuvel.com)
  • Human cancers arise via a multistep mutagenic process reflective of genetic and epigenetic changes that drive progressive transformation of normal cells into highly malignant counterparts. (medscape.com)
  • He received post-doctoral training as a Visiting Fellow, and then Staff Fellow, with Dr. Barbara Wiggert and Jerry Chader in the Laboratory of Retinal Cell & Molecular Biology (LRCMB), National Eye Institute (NEI), investigating interphotoreceptor retinoid-binding protein (IRBP). (nih.gov)
  • Most of these mutations lead to production of little or no functional p16(INK4A) protein. (medlineplus.gov)
  • The CDKN2A gene mutations found in melanoma result in a nonfunctional p16(INK4A) protein. (medlineplus.gov)
  • cAMP and cGMP are important secondary messengers involved in cell regulation and metabolism driven by the G protein‑coupled receptor. (spandidos-publications.com)
  • The level of cAMP is increased in association with cancer cell formation through activation of AC‑stimulatory G protein by mutation. (spandidos-publications.com)
  • This system allowed us to validate that proteins such as AXL function as SARS-CoV-2 spike protein receptors and synergize with ACE2 for cell invasion, and that proteins like NRP1 act as cofactors, facilitating ACE2-mediated syncytium formation. (bvsalud.org)
  • Our results also suggest that mutations in the NTD of the SARS-CoV-2 Delta variant spike protein show a preferential selection for Spike-AXL interaction over Spike-LDLRAD3. (bvsalud.org)
  • We provide several lines of evidence that the spike protein of SARS-CoV-2, but not SARS-CoV-1, induced cell-cell fusion even in the absence of its receptor, angiotensin-converting enzyme 2 (ACE2). (bvsalud.org)
  • This poorly described ACE2-independent cell fusion activity of the spike protein was strictly dependent on the proteasomal cleavage of the spike by furin while TMPRSS2 was dispensable. (bvsalud.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • The mHTT protein influences a plethora of cellular processes including transcription, axonal transport, cytoskeletal structure/function, signal transduction, and autophagy that ultimately result in cell death. (nature.com)
  • RimK-like family member B (RIMKLB) is an enzyme that post-translationally modulates ribosomal protein S6, which can affect the development of immune cells. (frontiersin.org)
  • 1 BL tumour cells usually express IgM, 13 - 15 B-cell markers such as CD19, CD20 and CD22 and markers of germinal centre (GC) centroblasts such as CD10, BCL6 4 and the human germinal centre-associated lymphoma (HGAL) protein. (bmj.com)
  • In fact, p53 and MDM2 protein are in a balanced situation in normal cell. (kritischderblog.de)
  • thus, we inspected all currently available sequence data of long-lived animals to explore a link between longevity (maximal lifespan) and p53 protein sequences.Our investigations revealed that p53 gene mutations were common in the NCI cell screen lines: 39 of 58 cell lines analyzed contained a mutant p53 sequence. (kritischderblog.de)
  • This tutorial describes the structure and function of the p53 protein, how its activity is regulated in cells, and how mutant versions of p53 can lead to cancer. (kritischderblog.de)
  • P. falciparum erythrocyte membrane protein 1 (PfEMP1), encoded by this multicopy var gene family expressed on the surface of infected red blood cells, plays an important role in this immune evasion. (frontiersin.org)
  • A, Representative Western blot showing CCND1 protein levels from lymphoblastoid cells derived from patients with Barrett esophagus (BE) (n = 5) and from population controls (n = 7). (jamanetwork.com)
  • B, Representative Western blot of MSR1 and CCND1 protein levels after HEK293 cells were transiently transfected with empty vector or wild-type MSR1 constructs. (jamanetwork.com)
  • The growth of normal and cancerous cells is genetically controlled by the balance or imbalance of oncogene and tumor suppressor gene protein products. (basicmedicalkey.com)
  • However, binding of p16(INK4A) blocks CDK4's or CDK6's ability to stimulate cell cycle progression. (medlineplus.gov)
  • The classic two-stage carcinogenesis model of tumor development theorizes that the initiated cells' genotype alteration is irreversible , and that tumor progression depends upon further, potentially reversible epigenetic changes. (oncologynurse-ce.com)
  • Should a defective cell be recognised, the checkpoints can trigger a variety of signalling pathways which prevent progression through the cell cycle. (frontlinegenomics.com)
  • Genome-wide association studies have identified more than a dozen common genetic variants associated with idiopathic pulmonary fibrosis (IPF) risk, and may be linked to altered disease progression and survival. (ersjournals.com)
  • Because of their role in cell cycle progression, HDAC inhibitors (HDACi), such as SAHA, have been utilised as anticancer agents. (le.ac.uk)
  • Nuclear antigen with a role in DNA synthesis, DNA repair, and cell cycle progression. (lookformedical.com)
  • The factors that initiate the genetic alterations are typically not identifiable, and usually occur in people with no particular risk factors for lymphoma development. (wikipedia.org)
  • This impairment in p53 function is thought to lead to loss of protection against the accumulation of genetic alterations. (medscape.com)
  • Direct and indirect ionization of DNA is ultimately responsible for the DNA alterations that adversely affect the structural and genetic integrity of the system. (cdc.gov)
  • These alterations can result in the wide range of somatic and reproductive effects described in greater detail in Chapter 3. (cdc.gov)
  • In a whole-genome sequencing in 17 Esophageal Squamous Cell Carcinoma cases and whole-exome sequencing in 71 cases, Song (2014), reported ASH1L alterations. (cancerindex.org)
  • Many human tumor types with distinct genotypes have 6 essential alterations in cell physiology that appear to collectively dictate the malignant phenotype. (medscape.com)
  • Despite the complexity of genetic alterations in cancer, some cures have been achieved in certain malignancies with combination chemotherapy, such as childhood leukemia, Hodgkin lymphoma, testicular cancer, and diffuse large B-cell non-Hodgkin lymphoma. (medscape.com)
  • In the past decade many genetic alterations have been discovered that influence tumor growth and spread. (biomedcentral.com)
  • To determine which of these alterations were somatic, we compared variants identified in the metastasis to their matched normal tissue and removed any variants found in the normal. (biomedcentral.com)
  • A major challenge of such studies is discriminating true mutations from the large number of possible sequence alterations identified. (biomedcentral.com)
  • This type of mantle cell lymphoma is associated with a more indolent, asymptomatic and slowly progressive course, however malignant transformation to aggressive forms is possible. (wikipedia.org)
  • The expression of some TAAs is irrelevant for the maintenance of the malignant phenotype, with unstable expression in the malignant cells (e.g. (biomedcentral.com)
  • Several of these malignant traits involve critical genomic modifications that allow cancerous cells to remain in the cell cycle pathway. (frontlinegenomics.com)
  • Somatic mutations vary in distinct cancer types (eg, brain, pancreas, breast, colon), as well as in a given tumor type, but they do appear to utilize common overlapping oncogenic pathways detected in the malignant phenotype. (medscape.com)
  • According to these observations, colon TAFs are not only an active and potentially malignant component of the tumor mass, but could be the first target of any drug, coming from the blood stream or the cell interstice. (oncotarget.com)
  • Background: Barrett's oesophagus (BO) is a pre-malignant condition in which normal squamous epithelium of the lower oesophagus and gastresophageal junction is replaced by columnar cells and progress to oesophageal adenocarcinoma. (cancer-genetics.org)
  • What combination of molecules confers differentiation to specific cell types? (nih.gov)
  • However, the tumour cells have undergone hypermutation, 21 23 a feature of the GC reaction during B-cell activation and differentiation. (bmj.com)
  • We recently showed that inactivating mutations in the tumor suppressor gene BAP1 are closely associated with loss of melanocytic differentiation in uveal melanoma (UM) and metastasis. (aacrjournals.org)
  • LSD1 and Sin3A, to examine their critical roles in development using a number of ES cell differentiation systems. (le.ac.uk)
  • The transformation of healthy cells into cancerous cells (otherwise known as oncogenesis) is a complex, multi-step process. (frontlinegenomics.com)
  • Cancerous cells employ a variety of methods to avoid this fate. (frontlinegenomics.com)
  • Following the initial genetic changes that trigger oncogenesis, the subsequent uncontrolled growth of cancerous cells results in the development of a tumour in the primary site. (frontlinegenomics.com)
  • Patient-derived xenograft (PDX) models are immunodeficient mice engrafted with patients' cancerous cells or tissues. (biomedcentral.com)
  • Exosomes correspond to a class of extracellular nanovesicles, produced by a broad range of human somatic and cancerous cells. (biomedcentral.com)
  • Multiple genetic mutations are required to convert normal cells to cancerous cells. (basicmedicalkey.com)
  • We found that critically short telomeres altered retrotransposon activity to promote genomic instability in mouse embryonic stem cells, as evidenced by elevated numbers of single nucleotide variants, indels and copy number variations (CNVs). (nature.com)
  • Cancer is a genetic disorder of somatic cells. (nih.gov)
  • Spontaneous mutation may cause spontaneous cancer. (nih.gov)
  • In an effort to reduce the mortality due to breast cancer through prevention and early diagnosis, sequencing-based genetic tests are available to identify BRCA1 and BRCA2 mutation carriers. (nih.gov)
  • We have undertaken genetic approaches for functional dissection by generating targeted mutations found in breast cancer patients into specific functional domains of BRCA2 in mice. (nih.gov)
  • Without one of these tumor suppressors, cells can grow and divide unchecked, leading to the development of cancer. (medlineplus.gov)
  • Mutations in the CDKN2A gene are also associated with melanoma, a type of skin cancer that begins in pigment-producing cells called melanocytes. (medlineplus.gov)
  • CDKN2A gene mutations are found in up to 40 percent of familial cases of melanoma, in which multiple family members develop the cancer. (medlineplus.gov)
  • In some families, CDKN2A gene mutations are associated with development of only one type of cancer. (medlineplus.gov)
  • In other families, mutations can lead to a cancer predisposition syndrome, which increases the risk of developing multiple types of cancer. (medlineplus.gov)
  • CDKN2A gene mutations involved in cancer impair production of functional p16(INK4A) or, less commonly, p14(ARF), which can result in uncontrolled cell growth and tumor formation. (medlineplus.gov)
  • ATCC offers a wide variety of cancer cell lines for use in research related to cancer genetics, early detection methods, and effective treatment of disease. (atcc.org)
  • ATCC has created gene mutation lists based on the ATCC tumor cell line collection and known mutation information maintained in the Sanger Institute Catalogue of Somatic Mutations in Cancer (COSMIC) database. (atcc.org)
  • ATCC Tumor Cell Panels are powerful tools to accelerate your discoveries in cancer research, compound screening, biomarker selection, pathway analysis, and targeted therapeutic development. (atcc.org)
  • The RAS genetic alteration panel is composed of 10 select cell lines, derived from a variety of common human cancer types. (atcc.org)
  • Our understanding of the landscape of pediatric cancer genomics has improved markedly in the past 20 years with the advent of next generation sequencing and other high throughput genetic sequencing. (medscape.com)
  • This collection of monographs on selected viruses provide cancer hazard evaluations for the following human viruses: Epstein-Barr virus, Kaposi sarcoma herpesvirus, human immunodeficiency virus-1, human T-cell lymphotropic virus-1, and Merkel cell polyomavirus for potential listing in the Report on Carcinogens (RoC). (nih.gov)
  • Ovarian cancer cell DNA ploidy was determined using Feulgen-stained smears or flow cytometry. (biomedcentral.com)
  • In somatic cells, the activation of retrotransposons can drive cancer gene expression and lead to cancer development 19 . (nature.com)
  • Red No. 3, beta-estradiol, and DDT increase ER site-specific DNA binding to the estrogen response element in HTB 133 cells and increase cyclin-dependent kinase 2 activity in MCF-7 breast cancer cells. (researchgate.net)
  • The genotoxicity of some environmental contaminants may affect human health directly by damaging genetic material and thus plays an important role in cancer development. (researchgate.net)
  • The number of available biomarkers used to assess genetic risk and cancer is very extensive. (researchgate.net)
  • Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data. (cancerindex.org)
  • Small cell lung cancer (SCLC) is an exceptionally lethal malignancy for which more effective therapies are urgently needed. (cancerindex.org)
  • Integrated Analysis of Genetic Abnormalities of the Histone Lysine Methyltransferases in Prostate Cancer. (cancerindex.org)
  • Environmental factors can certainly influence the growth and spread of cancer, but the changes that first lead to this devastating disease originate inside the cell. (frontlinegenomics.com)
  • Once believed to be a single disease, we now know that cancer is in fact a group of related diseases characterised by cells dividing uncontrollably and spreading into surrounding tissues. (frontlinegenomics.com)
  • Defects in essential proteins result in cancer cells developing several key features that assist in their survival and immune system evasion. (frontlinegenomics.com)
  • Historically, specific targeting of cancer cells with antihormonal therapies to estrogen receptor (breast cancer) and testosterone receptor (prostate cancer) has been successful. (medscape.com)
  • Two additional hallmarks have been proposed based on evading immune surveillance[4] and the cancer cell stress response phenotypes. (medscape.com)
  • 5] The final common pathway is the successful breaching of a hardwired anticancer defense program by cancer cells that survive and proliferate in an altered microenvironment. (medscape.com)
  • For example, mutations in the human kinome approach approximately 20%, some of which are drivers and many of which are passengers,[6] but the frequency of mutations in other gene families contributing to cancer remains to be established. (medscape.com)
  • However, the relationships among RIMKLB expression, survival outcomes, and tumor-infiltrating immune cells (TIICs) in colorectal cancer (CRC) are still unknown. (frontiersin.org)
  • In genetics, genotoxicity describes the property of chemical agents that damages the genetic information within a cell causing mutations, which may lead to cancer. (praxilabs.com)
  • Platinum-based chemotherapies are currently the first-line treatment of non-small cell lung cancer. (biomedcentral.com)
  • Cancer Cell Line Encyclopedia (CCLE), The Cancer Genome Atlas (TCGA) and Zhongshan hospital affiliated to Fudan University (zs-cohort) were used to identify the multi-omics differences related to platinum chemotherapy. (biomedcentral.com)
  • However, the compound did not gain sufficient scientific investigations until the 1960's, when Rosenberg found that it was capable of inhibiting cell division in Escherichia coli, which increase the possibility of its use in cancer chemotherapy [ 1 , 2 ]. (biomedcentral.com)
  • Due to its role in cell fate decisions after DNA damage, regulatory pathways controlled by p53 help to maintain genome stability and thus 'guard the genome' against mutations that cause cancer. (kritischderblog.de)
  • The genetic mutation status was confirmed by cansar portal (v3.0 beta) (https://cansar.icr.ac.uk/) and malignancy Catalogue Of Somatic Mutations NCH 51 In Malignancy (COSMIC) (http://cancer.sanger.ac.uk/cosmic/sample/overview?id=722040). (buyresearchchemicalss.net)
  • I always thought of cancer as the uncontrolled growth of undifferentiated cells, jes' regular folks except for the fact that something had broken their Off switch. (rifters.com)
  • The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
  • Small cell lung cancer (SCLC) and high-grade extrapulmonary neuroendocrine carcinomas (EPNEC) share similar histopathological features and treatment, but outcomes may differ. (ecancer.org)
  • Metastasis is characterized by spreading of neoplastic cells to an organ other than where they originated and is the predominant cause of death among cancer patients. (biomedcentral.com)
  • We recently published the first PROTACs to target HDAC1/2 specifically in cancer cells and are currently optimising additional molecules that target specific complexes. (le.ac.uk)
  • Monoclonal antibodies recognize an antigen that is expressed preferentially on cancer cells or target growth factors responsible for cancer growth. (basicmedicalkey.com)
  • Nerve grafts are one way that tissue engineering can be employed to grow nerve cells and tissues. (nih.gov)
  • Recently, the mapping of somatic mutations revealed variable mutation rates in different tissues 7 . (nature.com)
  • Extraordinary tools have already become available for probing and modulating cells and tissues, and continued improvements are expected in the decade ahead. (nih.gov)
  • Metazoans were everywhere - cells grouped into colonies with specialized subsystems called tissues and organs -and somehow, within those colonies, the whole beat-the-competition thing had fallen out of favor. (rifters.com)
  • This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. (lookformedical.com)
  • Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs. (lookformedical.com)
  • Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. (cancerindex.org)
  • p53 and the ubiquitin ligase HDM2 have been shown to interact with another E3 and E4 ubiquitin ligase UBE4B to induce the polyubiquitination and degradation of p53, which prevented apoptosis of medulloblastoma and ependymoma cells. (medscape.com)
  • It specifically negatively regulates the PI3K-AKT signaling pathway to induce cell cycle arrest. (medscape.com)
  • In vitro studies of cultured human breast epithelial cells, 17-beta estradiol has also been shown to induce phenotypic changes indicative of neoplastic transformation, similar to those induced by the chemical carcinogen benzapyrene. (oncologynurse-ce.com)
  • It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. (cancer-genetics.org)
  • Results: Results showed that C. concisus had a strong attachment to the cell lines and induce the expression of CDX1 in Barrett's cell lines in a time-dependent manner. (cancer-genetics.org)
  • These proteins help regulate the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. (medlineplus.gov)
  • The p14(ARF) and p53 proteins are often made in cells that are unable to undergo cell division. (medlineplus.gov)
  • Besides the so-called neoantigens, which are generated by somatic mutations in the neoplastic cells (e.g., p53) and are usually patient-specific, the targetable TAAs in EOC are usually self-antigens, which are non-mutated proteins aberrantly expressed by the tumor. (biomedcentral.com)
  • Cells depend on their DNA for coding information to make various classes of proteins that include enzymes, certain hormones, transport proteins, and structural proteins that support life. (cdc.gov)
  • Specialized cell structures called ribosomes are the cellular organelles that actually synthesize the proteins (RNA transcription). (cdc.gov)
  • There are many many types of molecules, proteins, RNAs etc that determine how cells differentiate. (nih.gov)
  • These particular nanovesicles are mainly composed by proteins, genetic substances and lipids, which mediate signal transduction and material transport. (biomedcentral.com)
  • The genotoxic action of contaminating agents affects human health directly, damaging the genetic material, which is considered to play an important role in oncogenesis [6,7]. (researchgate.net)
  • Our results suggest that DDT is genotoxic, not only for lymphocytes but also to mammary epithelial cells. (researchgate.net)
  • Treat cells with the genotoxic agent(s) or nanoparticles and observe under the microscope Harvest cells, fix them and stain with Giemsa stain. (praxilabs.com)
  • Mutations can be inherited or can arise de novo early in embryogenesis or in one of the parent's germ cells. (medscape.com)
  • The permanent, heritable changes can affect either somatic cells of the organism or germ cells to be passed on to future generations. (praxilabs.com)
  • The cure rate of germ cell tumours (GCTs) has significantly increased from the late 1970s since the introduction of cisplatin-based therapy. (encyclopedia.pub)
  • Testicular germ cell tumours (TGCTs) are the most prevalent solid tumours in young men aged 15-35 years, with a rising incidence among Caucasians, although they represent overall 1% of all malignancies in men worldwide [ 1 ] . (encyclopedia.pub)
  • The cure rate has significantly increased from the late 1970s since the introduction of cisplatin-based therapy in the [ 5 ] [ 6 ] , which to date remains the milestone of germ cell tumours (GCTs) treatment. (encyclopedia.pub)
  • To eliminate common germ line mutations from consideration, we filtered variants observed in dbSNP130 or in a high quality set of common variants from the 1000 genomes project. (biomedcentral.com)
  • It has been known for several years that exposure to some xenohormones increases the production of reactive oxygen species, which in turn could inflict structural damage to cell DNA of target organs, as well as to DNA from other systemic cells [4, 5]. (researchgate.net)
  • Site-specific DNA binding by p53 in RLE, HTB 125, HTB 133, and MCF-7 cells was increased when they were treated with Red No. 3, which suggests that cellular DNA was damaged by this colorant. (researchgate.net)
  • These cellular processes are self-sufficiency in growth signals (oncogene addiction), insensitivity to growth-inhibitory signals (loss of tumor suppressors), evading programmed cell death (anti-apoptosis), limitless replication potential (aberrant cell cycle), sustained angiogenesis, and invasion/metastasis. (medscape.com)
  • In this study, we aim to find out the causes of resistance to cisplatin from the genetic, pharmacological, and cellular level as well as the prognosis of patients who have undergone platinum-based chemotherapy, and provide a reference for therapeutic decisions in clinical treatments. (biomedcentral.com)
  • Modern-day sponges might be a pretty good example: some cellular specialization, a bit of the ol' helping hand between cells, but nothing so altruistic as an actual tissue . (rifters.com)
  • At the molecular level, in fact, a gradual weakening of the cellular processes regulating cardiovascular homeostasis occurs in aging cells. (hindawi.com)
  • The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. (lookformedical.com)
  • Mitochondrion is a double membrane organelle that is responsible for cellular respiration and production of most of the ATP in eukaryotic cells. (biomed.news)
  • Conversely, defective mitophagy leads to the accumulation of damaged mitochondria and cellular dysfunction, contributing to inflammation, oxidative stress, and neuronal cell death. (biomed.news)
  • Mitochondria host key metabolic processes vital for cellular energy provision and are central to cell fate decisions. (biomed.news)
  • The cell lines in each of these panels were selected because they carried a specific mutations or deletion or because they exhibited gene amplification, in the featured gene. (atcc.org)
  • In fact, clinical testing for specific mutations and genomic classification has achieved overwhelming successes in hematology [ 2 ]. (biomedcentral.com)
  • 9. Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells. (nih.gov)
  • The overarching goal of my laboratory over the past two decades has been to understand the functional significance of variants of unknown clinical significance (VUS) identified in BRCA1 and BRCA2 using mouse models as well as mouse embryonic stem cells (mESC). (nih.gov)
  • Repression of retrotransposons is critical for the maintenance of genome stability in both somatic cells and embryonic stem cells (ESCs) 9 . (nature.com)
  • We have therefore used gene editing methods, such as CRISPR, to generate embryonic stem (ES) cell lines in which we can specifically 'switch off' HDAC1 and HDAC2, or components of specific complexes e.g. (le.ac.uk)
  • A number of direct and indirect radiation interaction pathways can produce damage to the DNA of irradiated cells. (cdc.gov)
  • PEG10 counteracts signaling pathways of TGF-β and BMP to regulate growth, motility and invasion of SW1353 chondrosarcoma cells. (cancerindex.org)
  • PEG10 expression was suppressed by TGF-β signaling, and PEG10 interfered with the TGF-β and BMP-SMAD pathways in chondrosarcoma cells. (cancerindex.org)
  • Exosomes can modulate the activation of various signaling pathways in target (recipient) cells. (biomedcentral.com)
  • In response to mtDNA damage, cell initiates multiple pathways including mtDNA repair, degradation, clearance and release, to recover mtDNA, and maintain mitochondrial quality and cell homeostasis. (biomed.news)
  • Cells affected by MCL proliferate in a nodular or diffuse pattern with two main cytologic variants, typical or blastic. (wikipedia.org)
  • Blastic (aka blastoid) variants have intermediate to large-sized cells with finely dispersed chromatin, and are more aggressive in nature. (wikipedia.org)
  • Nonetheless, for all analyzed variants, cell fusion was dependent on furin cleavage and could be pharmacologically inhibited with CMK. (bvsalud.org)
  • Burkitt lymphoma (BL) is an aggressive B-cell malignancy with endemic, sporadic and immunodeficiency-associated variants. (bmj.com)
  • Recently, several large genome-wide association and linkage studies have identified common genetic variants in more than a dozen loci that appear to contribute to IPF risk. (ersjournals.com)
  • The RPE-specific mechanism of major interest to us is the visual cycle, the cyclical process by which vitamin A (all-trans retinol) is converted to the form (11-cis retinal) required for vision. (nih.gov)
  • Our ongoing goals are to elucidate the mechanism of action of RPE65 and to determine how it is integrated into the overall visual cycle. (nih.gov)
  • Understanding its catalytic mechanism may help in rational design of small molecules for treating blindness due to visual cycle defects. (nih.gov)
  • EPR was found to be a light dependent recovering mechanism undertaken by these prokaryotic cells to restore the damage to their DNA following UVR exposure. (clinuvel.com)
  • Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. (lookformedical.com)
  • In contrast, both mutations in nonhereditary retinoblastoma are somatic. (medscape.com)
  • In contrast, PEG10 knockdown augments the TGF-β1-induced motility of SW1353 cells. (cancerindex.org)
  • Our biochemical and molecular genetics studies in mouse models and human genetic eye disease show that RPE65 is essential to the operation of the visual cycle. (nih.gov)
  • Molecular and genetic studies of the endocrine system have progressed rapidly over the past few decades. (spandidos-publications.com)
  • The Unified Huntington's Disease Rating Score (UHDRS) was established as a reliable hybrid scale to describe motor function, cognitive function, behaviour abnormalities, and total functional capacity (TFC) 5 , that together with molecular genetic testing (CAG sizing) 6 provided tools to monitor disease. (nature.com)
  • P53 gene mutation (G to T codon 249) may be regarded as an early molecular marker in the detection of HCC in Egyptian patients. (madridge.org)
  • As we go forward, we anticipate that advances in these genetic and genomic technologies will result in a re-organisation of the way we define and classify interstitial lung disease based on molecular characterisation. (ersjournals.com)
  • As we evolve from a system of diagnosis based on histopathology to one based on a specific genetic/genomic signature reflecting the fundamental biology of the disease, there will be unique opportunities to develop and test therapies in specific patient populations based on the molecular profiles. (ersjournals.com)
  • Next-generation sequencing technology has enabled the detection of diverse patterns of genomic changes in human somatic cells. (biomedcentral.com)
  • Somatic mutations, mRNA expressions, miRNA expressions, metabolites and methylation were related to the resistance of cisplatin. (biomedcentral.com)
  • Each panel consists of cell lines that are easy to grow using "classic" media formulations, grouped by tissue of tumor origin, and annotated with published data relevant to your research, such as known mutations in select oncogenes or receptors. (atcc.org)
  • Mutations in the CDKN2A gene are found in up to one-quarter of head and neck squamous cell carcinomas (HNSCC). (medlineplus.gov)
  • People with mantle cell lymphoma typically present with symptoms later in life, with a median age of onset between 60 and 70 years of age. (wikipedia.org)
  • An example of another common source of stem cells is from bone marrow, where cells are harvested typically from the hip bone of an adult. (nih.gov)
  • We analyzed Cyclin A1 expression in EOC and its correlation with clinical features to evaluate Cyclin A1 as a T-cell target in EOC. (biomedcentral.com)
  • To date, there are clinical trials with human patients focused on examining the use of stem cells to treat neurologic diseases and diabetes. (nih.gov)
  • This clinical state is characterized by elevated basal serum FSH levels in association with disordered menstrual cycles as demonstrated by oligomenorrhea, polymenorrhea, or metrorrhagia. (medscape.com)
  • All groups will be subjected to history taking, clinical examination, abdominal ultasonography with or without triphasic CT scanning, routine laboratory investigations, alpha fetoprotien, hepatitis viral markers and detection of mutations in exon 7 of p53 gene by PCR-RFLEP followed by confirmatory direct DNA sequencing. (madridge.org)
  • Cold Spring Harbor, NY -- Cold Spring Harbor Laboratory Press announced the release of Genetic Counseling: Clinical Practice and Ethical Considerations, available on its website in Hardcover and Paperback formats. (cshlpress.com)
  • In silico screens were done to identify therapeutic compounds predicted to differentiate UM cells using Gene Set Enrichment Analysis and Connectivity Map databases. (aacrjournals.org)
  • [ 121 ] Human cells lacking functional BLM show tenfold-elevated rates of sister chromatid exchange. (medscape.com)
  • A series of multiple, including functional, platform integration resulted in a prioritized candidate gene list, with the final 12 top priority candidates brought forward to candidate gene mutation analysis in a case-control series followed up by validation in an independent series of patients and by functional interrogation. (jamanetwork.com)
  • Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. (lookformedical.com)
  • Dr. Redmond and his colleagues demonstrated the essential role of RPE65 in vision, that mutations in the human RPE65 gene cause Leber congenital amaurosis (LCA), that RPE65 is necessary for the all-trans to 11-cis isomerization of vitamin A in the retina, and that RPE65 is the crucial retinol isomerase enzyme of the vitamin A visual cycle. (nih.gov)
  • The human body has nearly 1013 cells. (cdc.gov)
  • It is noted that human telomeres are much shorter than mouse telomeres and that mouse somatic cells continue expressing telomerase in adulthood 28 , such that only late-generation telomerase knockout ( Terc −/− ) mice exhibit short telomere-associated phenotypes, including accelerated aging, reduced injury repair and predisposition to tumorigenesis 29 . (nature.com)
  • The pesticide DDT and the food colorant Red No. 3 were found to increase the growth of HTB 133 but not estrogen receptor (ER) negative human breast cells (HTB 125) or rat liver epithelial cells (RLE). (researchgate.net)
  • The image below depicts positive staining of tumor cell nuclei with monoclonal antibody to estrogen receptor. (medscape.com)
  • Ultraviolet radiation (UVR) DNA damage, characterized by C-T transition at dipyrimidine sites and CC-TT tandem mutations, is a major etiologic factor for BCC, demonstrated by the fact that the mutations in Ptch1 identified in sporadic BCC are frequently UVR specific. (medscape.com)
  • Current evidence suggests that rather than existing as distinct syndromes, sporadic and familial cases of IPF (familial interstitial pneumonia) probably reflect a continuum of genetic risk. (ersjournals.com)
  • Recent researches have stated that p53 (exon 7) is a hotspot for point mutation in HCC and this mutation could be regarded as a new biomarker in HCC earlier diagnosis. (madridge.org)
  • Recently, somatic RPE65 gene therapy trials have succeeded in partially restoring vision in patients with RPE65 mutations. (nih.gov)
  • In several studies, three PDE11A mutations have been reported in patients with Cushing syndrome with primary pigmented nodular adrenocortical disease or isolated micronodular adrenocortical disease without other genetic defects. (spandidos-publications.com)
  • The aim of this work is to study p53 gene mutations (exon7) as a new early diagnostic marker of HCC in Egyptian patients. (madridge.org)
  • In this study it was found that, there was no P53 mutations could be detected in the control group (GG), while in the HCC group, 12/40 (40%) patients showed G￧T point mutation at codon 249 of exon 7, and in cirrhosis group 7/40 (17.5%) patients showed G￧T point mutation. (madridge.org)
  • Some patients with juvenile myelomonocytic leukemia (JMML) were also noted to harbor mutations in CBL, but were found to have generally less aggressive disease courses compared to patients with other forms of Ras pathway-mutant JMML. (haematologica.org)
  • Here, we systematically studied a large cohort of 33 JMML patients with CBL mutations and found that this disease is highly diverse in presentation and overall outcome. (haematologica.org)
  • Moreover, we discovered somatically acquired CBL mutations in 15% of pediatric patients who presented with more aggressive disease. (haematologica.org)