• hPSC-enriched essential genes mainly encode transcription factors and proteins related to cell-cycle and DNA-repair, revealing that a quarter of the nuclear factors are essential for normal growth. (nature.com)
  • Next, the therapeutic efficiencies of Dox and/or chi-p53 in microsphere formulations were compared to free drug(s) and evaluated in terms of growth inhibition, and cellular expression of tumor suppressor p53 and apoptotic caspase 3 proteins. (uky.edu)
  • Toward this objective, ChIP-Seq data of 14 S/MAR binding proteins were analyzed and the binding site coordinates of these proteins were used to prepare a non-redundant S/MAR dataset of human genome. (researchgate.net)
  • The observation that alternative splicing produces large numbers of alternative transcripts and proteins, some of them conserved across species and others truly species-specific, suggests that, still maintaining the conventional definition of gene orthology, a new concept of "splicing orthology" can be defined at transcript level. (biomedcentral.com)
  • Functional and evolutionary analyses of genes are usually performed on one or few representatives of their expression products, i.e. transcripts and proteins. (biomedcentral.com)
  • In practice, two genes α and β are usually annotated as orthologous if their products are the "best reciprocal hits": that is, one of the proteins encoded by the α gene of species A has, as its most similar counterpart in species B, one of the proteins encoded by the β gene, and vice versa. (biomedcentral.com)
  • p53 affects the transcription of many target genes and interacts with key cellular proteins. (molvis.org)
  • 8 9 This lack of an absolute phenotype:genotype concordance could be attributed to incomplete screening of the p53 gene, inactivation of the p53 protein through interaction with other cellular proteins or viruses, or defects in other genes involved in p53 mediated cell cycle regulatory pathways. (bmj.com)
  • There is a high degree of identity among the mouse, human, and yeast ECA39 proteins. (bdbiosciences.com)
  • Variation in response to OTQ by each cell strain at the protein level was detected by indirect immunofluorescence and western blot for cell cycle checkpoint proteins p53 and p21. (cdc.gov)
  • Tumor suppressor genes provide instructions for making proteins that control how fast your cells grow and divide to make new cells. (medlineplus.gov)
  • L genes encode viral capsid proteins. (medscape.com)
  • Expression of the p53 target CDIP correlates with sensitivity to TNFα-induced apoptosis in cancer cells. (nih.gov)
  • Although we detected no genetic alteration in the coding sequences, one of four rhabdomyosarcoma cell lines examined had completely lost expression of this gene. (aacrjournals.org)
  • The maintenance of pluripotency requires coordinated expression of a set of essential genes. (nature.com)
  • Expression values for each gene were mean centered (mean = 0, stdv = 1), and the sum of the expresion values of the 20 genes for each patient sample was computed (20-gene score, see Materials and Methods). (biomedcentral.com)
  • High p53 expression was maintained during a five-day period, and was largely due to the controlled and sustained release of the microspheres. (uky.edu)
  • Moreover, increased activation of caspase 3 was observed, and was likely to have been facilitated by high levels of p53 expression. (uky.edu)
  • These elements are involved in control of gene expression which governs the phenotype and also plays role in disease biology. (researchgate.net)
  • Crohn's Disease IRGM Risk Alleles are Associated with Altered Gene Expression in Human Tissues. (nih.gov)
  • Our results showed basal levels of NDRG1 expression in PC-3 (poorly differentiated, null p53), DU-145 (moderately differentiated, mutant p53) and LNCaP (well-differentiated, wiled type p53). (scirp.org)
  • Furthermore, human cDNA of NDRG1 from normal placenta was cloned into a eukaryotic expression vector and transfected into the three cancer cell lines. (scirp.org)
  • These results revealed that NDRG1 is functional in prostate cancer cells and able to induce expression of differentiation factors through p53 independent pathway. (scirp.org)
  • N. van Belzen, W. N. Dinjens, B. H. Eussen and F. T. Bosman, "Expression of Differentiation-Related Genes in Colorectal Cancer: Possible Implications for Prognosis," Histology and Histopathology, Vol. 13, No. 4, 1998, pp. 1233-1242. (scirp.org)
  • The overlap in gene expression changes when neural progenitor cells are infected by African or Asian strains of Zika virus. (infectioncontroltoday.com)
  • The authors describe dengue as inducing more robust changes in gene expression than either strain of Zika. (infectioncontroltoday.com)
  • The serum levels of proinflammatory cytokines as well as the expression of inflammation- and apoptosis-related genes in colonic tissue were also analyzed. (carcinogenesis.com)
  • In addition, it increased Bax and reduced Bcl-2 expression levels and increased p21 and p53 expression in the colonic tissues. (carcinogenesis.com)
  • KLF6 functions as a tumor suppressor gene and increases p21 expression via p53-independent pathway [ 3 ]. (medsci.org)
  • The loss of KLF6 expression has been observed in several human cancers [ 4 - 7 ]. (medsci.org)
  • KLF6 downregulation enhances MDM2 gene expression that deregulates the p53 pathway [ 9 ]. (medsci.org)
  • While CRISPR-Cas9 technology has been successfully applied in numerous cell lines, its application in primary human CD34 + cells has been hampered by challenges in efficient expression and delivery of CRISPR-Cas9 components. (stemcell.com)
  • Products of myc oncogenes are transcription factors that bind to the DNA sequence, CACGTG, and regulate the expression of multiple target genes. (bdbiosciences.com)
  • Additionally, the tissue specific expression of ECA39 during embryogenesis is similar between human and mouse. (bdbiosciences.com)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • To further understand the mechanism of action of OTQ, gene expression was studied in four strains of primary normal human mammary epithelial cells. (cdc.gov)
  • Gene expression was analyzed over a 2 hr treatment period (0, 15, 60 and 120 min). (cdc.gov)
  • Data Mining Tool software (Affymetrix, Santa Clara, CA) was used to separate genes in clusters based on their expression patterns over time. (cdc.gov)
  • Although the function of these genes varied, these findings provide insight into the effects of OTQ, and emphasize the role of inter-individual variation in gene expression profiles. (cdc.gov)
  • Expression of p53, epidermal growth factor receptor, c-erbB2 in oral leukoplakias and oral squamous cell carcinomas. (cdc.gov)
  • p53 Codon 72 Gene Polymorphism Studies and p53 Expression by Immunohistochemistry in Oral Lesions as Risk Factor for Malignancy. (cdc.gov)
  • In breast cancer patients, it is unclear whether measuring p53, mdm-2, or p21 expression provides information on how patients will respond to chemotherapy. (lu.se)
  • p53, mdm-2, p21, and mib-1 expression were assessed by immunohistochemical methods in primary tumors derived from 134 patients who took part in a randomized multicenter trial comparing docetaxel to sequential methotrexate and 5-fluorouracil (MF) in advanced breast cancer. (lu.se)
  • p53, mdm-2, p21, and mib-1 expression were not significantly associated with response to chemotherapy, time to progression, or overall survival in the whole patient population or in the docetaxel group. (lu.se)
  • Interestingly, tumors with both negative mdm-2 and p21 expression, irrespective of p53 status, had a high response rate to docetaxel but no response to MF. (lu.se)
  • 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)
  • We also discuss the possibility of targeting p53-mediated ferroptotic responses for the treatment of human cancers and potentially, other diseases. (nature.com)
  • The most frequently mutated gene in human cancers is called p53. (news-medical.net)
  • Patients with Li-Fraumeni syndrome, which is a rare disorder that increases the risk of developing several types of cancer, often have an increased risk to develop cancers at early ages if they inherit p53 mutations. (news-medical.net)
  • TP53 is mutated in most human cancers. (nih.gov)
  • Included in this list was a candidate vaccine for estimate the cost-effectiveness of adding HPV vaccination human papillomavirus (HPV), a virus that can cause cervi- of 12-year-old girls to existing cervical cancer screening cal and other anogenital cancers, genital warts, and other practices in the United States. (cdc.gov)
  • Why are there hot spot mutations in the p53 gene in human cancers? (cinj.org)
  • In fact, we know half of all human cancers don't have p53 that works properly. (utah.edu)
  • Krüppel-like factor 6 (KLF6), a member of this family, is downregulated in human cancers. (medsci.org)
  • In about half of human cancers, p53 is inactivated through DNA mutation. (who.int)
  • The other half of cancers harbour a wild-type p53 gene whose tumour suppressor functions are altered by different mechanisms, which are not yet completely understood. (who.int)
  • More than half of all adult cancers involve a change in this gene. (medlineplus.gov)
  • Mutations in p53, found in most cancers, lead to uncontrollable cell division. (medscape.com)
  • Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and tumor necrosis factor-mediated signaling pathway. (nih.gov)
  • Using a monoclonal antibody that recognises the p53 protein in immunohistochemical staining experiments, we observed overexpression of the p53 protein in five of the six tumours containing point mutations in the p53 gene. (nih.gov)
  • Germline mutations in the p53 tumor suppressor gene are associated with the Li-Fraumeni syndrome, characterized by childhood sarcoma, leukemia and early onset breast cancer and has occasionally been found also in familial breast-ovarian cancer. (lu.se)
  • Through cloning of functional p53-binding sites (p53-tagged sites) from the human genome, we isolated a novel gene inducible by wild-type p53. (aacrjournals.org)
  • In view of the comparable biological and phenotypic features of p53 and p16 INK4a inactivation, we proposed that germline inactivation of the p16 INK4a gene could account for the predisposition to cancer development in a proportion of LFS families that harboured wild type p53 . (bmj.com)
  • This may have an important impact in understanding the biology of wild-type p53 in cancer-transformed cells. (who.int)
  • In response to DNA-damaging agents, the wild-type p53-activated fragment 1 (WAF1 also known as p21) is an important downstream effector in the p53-specific growth arrest pathway. (lu.se)
  • The tumor suppressor TP53 (also called p53) has been among the most extensively studied genes since its discovery in 1979 [ 1 , 2 ]. (nature.com)
  • To gain insight into how elephants avoid cancer, the researchers looked at the elephant genome, with a focus on the TP53 gene. (nih.gov)
  • TP53 codes for the protein p53, a crucial tumor suppressor that stops cells with damaged DNA from dividing. (nih.gov)
  • In addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases. (nih.gov)
  • A TP53 genetic test usually uses a sample of your blood to look for changes in the tumor protein 53 gene, or TP53 for short. (medlineplus.gov)
  • Changes in the TP53 gene are linked to many different types of cancer . (medlineplus.gov)
  • TP53 is a type of gene called a "tumor suppressor. (medlineplus.gov)
  • If you have certain changes in a TP53 gene, the gene or the protein it makes may not work well or may stop working completely. (medlineplus.gov)
  • Changes in your TP53 gene can be acquired or inherited. (medlineplus.gov)
  • Most changes in TP53 genes are acquired changes. (medlineplus.gov)
  • Inherited changes in the TP53 gene cause a rare genetic condition called Li-Fraumeni syndrome (LFS). (medlineplus.gov)
  • A TP53 genetic test is used to look for changes in your TP53 genes. (medlineplus.gov)
  • The test can check whether an acquired change in your TP53 gene is causing your cancer. (medlineplus.gov)
  • Recently, we identified TRIM22 as a novel p53 target gene and showed that overexpression of TRIM22 inhibits the clonogenic growth of monoblastic U937 cells. (lu.se)
  • Although KLF6 overexpression in human cancer cells inhibits cell proliferation, induces apoptosis, and attenuates cell migration, the effects of KLF6 on oral cancer remains poorly elucidated. (medsci.org)
  • We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
  • Although the conventional activities of p53 such as cell cycle arrest, senescence, and apoptosis are well accepted as the major checkpoints in stress responses, accumulating evidence implicates the importance of other tumor suppression mechanisms. (nature.com)
  • Is p53-dependent ferroptosis sufficient for tumor suppression in the absence of cell cycle arrest, senescence, and apoptosis? (nature.com)
  • To date, various mechanisms have been suggested to explain the powerful tumor-suppressive effect of p53, including the induction of cell cycle arrest, senescence, and apoptosis. (nature.com)
  • Functional assays comparing elephant and human cells showed that in response to DNA damage, cells from elephants had higher cell death (apoptosis) rates but didn't boost DNA repair mechanisms. (nih.gov)
  • Cells obtained from people with Li-Fraumeni syndrome had significantly less apoptosis than the human controls and more than 5 times less than elephants. (nih.gov)
  • These results suggest that elephants may have evolved to resist cancer by triggering apoptosis through p53 to efficiently remove mutant cells. (nih.gov)
  • p53 participates in relevant aspects of cell biology, including apoptosis and cell cycle control and must be strictly regulated to maintain normal tissue homeostasis. (molvis.org)
  • These findings indicate that the doenjang attenuated colon carcinogenesis induced by AOM and DSS by ameliorating the symptoms of colon cancer, reducing the occurrence of neoplasia, regulating proinflammatory cytokine levels, and controlling the expressions of inflammation- and apoptosis-related genes in the colonic tissue. (carcinogenesis.com)
  • p53 is a transcription factor that participates in cell cycle checkpoint processes and apoptosis. (lu.se)
  • In this study we have screened a series of 29 primary leiomyosarcomas for abnormalities of both the p53 gene and the MDM2 gene, which encodes a p53-associated protein. (nih.gov)
  • Southern analysis of tumour DNA revealed that 2/29 tumours demonstrated amplification of the MDM2 gene. (nih.gov)
  • When considered together, these results indicate that alterations in both the p53 gene and MDM2 gene are important in the development of a significant minority of leiomyosarcomas. (nih.gov)
  • In addition, we have demonstrated a significant association between the presence of abnormalities of the p53 gene or MDM2 genes in leiomyosarcomas and a more advanced clinicopathological stage (P = 0.03). (nih.gov)
  • p53 E3 ubiquitin protein ligase homolog (Mdm2) is an important negative regulator of p53. (molvis.org)
  • The purpose of this study was to determine if Mdm2 regulates p53 in vivo in the adult lens. (molvis.org)
  • We analyzed mice expressing human p53 transgene (Tg p53 ) selectively in the lens in the presence or absence of Mdm2 . (molvis.org)
  • Mice with the required genotypes were obtained by crossing transgenic, mdm2 +/− , and p53 −/− mice. (molvis.org)
  • In a wild-type genetic background ( mdm2 +/+ ), lens damage and microphthalmia were observed only in mice homozygous for Tg p53 ( t/t ). (molvis.org)
  • However, in an mdm2 null background, just one allele of Tg p53 ( mdm2 −/− /Tg p53 t/0 mice) was sufficient to cause lens damage and microphthalmia. (molvis.org)
  • Furthermore, Mdm2 in only one allele was sufficient to rescue these deleterious effects, since the mdm2 +/− /Tg p53 t/0 mice had eye size and lens morphology similar to the control mice. (molvis.org)
  • Mdm2 regulates p53 in the adult lens in vivo. (molvis.org)
  • This information may have relevance for analyzing normal and pathological conditions of the lens, and designing cancer therapies targeting Mdm2-p53 interaction. (molvis.org)
  • Mdm2 is a key negative regulator of p53 activity. (molvis.org)
  • Mdm2 binds directly to the transcriptional activation domain of p53 and blocks p53-dependent transcription. (molvis.org)
  • The lethality of mdm2 −/− mice before implantation makes it impossible to analyze Mdm2 interaction with p53 in vivo at specific times of development, at postnatal/adult stages, or in specific cell types. (molvis.org)
  • The Symposium Proceedings addresses 21st Century Genetics: Genes at Work, and provides a current synthesis of genetic mechanisms and genome/chromosome biology. (cshlpress.com)
  • NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human biology, genetics, and common diseases to help prevent disease and improve human health. (nih.gov)
  • This shows that the differences between Zika and dengue are not at the level of being able to infect neural progenitors, but more about the harm Zika causes when it does infect those cells,' says senior author Peng Jin, PhD, professor of human genetics at Emory University School of Medicine. (infectioncontroltoday.com)
  • However, the debate regarding which single function of p53 is absolutely critical for its tumor suppressor role is ongoing [ 7 ]. (nature.com)
  • In the study, the authors dissect a new mechanism driven by cutaneous beta human papillomavirus (HPV) type 38 in altering the function of p53. (who.int)
  • Most studies in the p53 field have focused on its roles in tumors. (nature.com)
  • 3) p53 null mice develop tumors with 100% penetrance. (nature.com)
  • When responding to these stresses, p53 may incidentally but efficiently suppress tumors. (nature.com)
  • The Bromodomain and Extra-terminal Inhibitor CPI203 Enhances the Anti-proliferative Effects of Rapamycin on Human Neuroendocrine Tumors. (cinj.org)
  • Ben-Yosef T, Yanuka O, Halle D, Benvenisty N. Involvement of Myc targets in c-myc and N-myc induced human tumors. (bdbiosciences.com)
  • Loss of heterozygosity at the p53 locus was not seen in the primary tumors of these women, but appeared as a partial loss of the wildtype allele in subsequent recurrent lesions of two gene carriers. (lu.se)
  • Photocarcinogenesis in hairless mice induced tumors harbors more UVA than UVB fingerprint by ultraviolet A tanning devices with or without mutations: A role for UVA in human skin car- subsequent solar-simulated ultraviolet irradia- cinogenesis. (who.int)
  • ABSTRACT Studies have suggested a possible link between breast cancer pathogenesis and human papillomavirus (HPV) infection. (who.int)
  • The majority of classical LFS families harbour germline mutations of the p53 tumour suppressor gene. (bmj.com)
  • 26-29 Where available, samples from more than one family member were examined to determine whether a germline gene alteration occurred de novo or was inherited. (bmj.com)
  • Both p53 wild type and p53 mutant samples were included in the p16 INK4a analysis to determine whether germline alterations of one gene precluded the occurrence of alterations of the other. (bmj.com)
  • The family manifested no linkage to the p53 gene (a two-point LOD-score of -0.41), and has previously also been excluded for linkage to the BRCA1 and BRCA2 loci, as well as being carrier of a BRCA1 germline mutation. (lu.se)
  • Although it seems unlikely that the p53 germline mutation is the major cause of disease predisposition in Lund 5, the data suggest that some p53 alteration may confer a subtle influence on breast cancer development and progression. (lu.se)
  • Schuldiner O, Eden A, Ben-Yosef T, Yanuka O, Simchen G, Benvenisty N. ECA39, a conserved gene regulated by c-Myc in mice, is involved in G1/S cell cycle regulation in yeast. (bdbiosciences.com)
  • The protein product of the murine double minute gene 2 (mdm-2) plays a central role in the regulation of p53. (lu.se)
  • With this we could allude to an intrinsic bias of essentiality across cellular compartments, uncover two opposing roles for tumour suppressor genes and link autosomal-recessive disorders with growth-retardation phenotypes to early embryogenesis. (nature.com)
  • We describe a simplifi ed model, based on the current dasil, manufactured by Merck & Co., Inc. [Whitehouse economic and health effects of human papillomavirus (HPV), Station, NJ, USA]) for use in girls and women 9-26 years to estimate the cost-effectiveness of HPV vaccination of of age ( 5 ). (cdc.gov)
  • A growing body of research shows that human papillomavirus (HPV) is a common and increasing cause of oropharyngeal squamous cell carcinoma (OSCC). (cdc.gov)
  • In many countries, vaccines against some human papillomavirus (HPV) types are now administered to girls and young women with the goal of protecting them against HPV-induced cervical cancer ( 1 , 2 ). (cdc.gov)
  • Worldwide, the human papillomavirus (HPV) has been detected in more than 90% of cervical carcinomas and in as many as 99.7% of cervical neoplasias. (medscape.com)
  • Human papillomavirus infection of epithelium. (medscape.com)
  • Human Papillomavirus as a Potential Risk Factor for Oral Premalignant Lesions. (cdc.gov)
  • L'étude menée en Iraq a utilisé la méthode d'hybridation in situ pour déterminer la fréquence du papillomavirus humain et pour son génotypage dans les échantillons de tissus prélevés auprès de 129 patientes ayant reçu un diagnostic de cancer du sein malin, de 24 patientes porteuses d'une tumeur du sein bénigne et de 20 femmes témoins en bonne santé. (who.int)
  • The detection of mutant alleles of tumour genes in specimens such as urine, pancreatic juice, sputum, and stool holds great promise for an early diagnosis of cancer. (degruyter.com)
  • In addition, the detection of mutant tumour genes in tissue samples, such as lymph nodes or resection margins, may allow a sensitive diagnosis of residual malignant disease. (degruyter.com)
  • The gene appears to protect tissues not only against cancer but also other potential threats, such as oxygen starvation. (bbc.co.uk)
  • OCT4 as a Target of miR-34a Stimulates p63 but Inhibits p53 to Promote Human Cell Transformation. (nih.gov)
  • 13 p16 INK4a is a cyclin dependent kinase inhibitor that is frequently mutated or deleted in many human cancer cell lines 14-16 and some sporadic malignancies, including sarcomas, breast cancer, leukaemia, and brain tumours, which are all component tumours of LFS. (bmj.com)
  • 10-12 However, in the remaining "classical" LFS families, and in most LFS-L families, no alterations in p53 have been found. (bmj.com)
  • Alterations in genes with potential clinical utility are observed in more than three quarters of the cases and included members of the PI3-kinase and homologous DNA repair pathways. (nih.gov)
  • OncoKB currently contains 4472 alterations for 595 genes of 38 tumor types. (lu.se)
  • This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones. (nih.gov)
  • Using our recently established haploid human pluripotent stem cells (hPSCs), we generated a genome-wide loss-of-function library targeting 18,166 protein-coding genes to define the essential genes in hPSCs. (nature.com)
  • However, a comprehensive genome-wide map of human S/MARs is yet not available. (researchgate.net)
  • P53, often mutated in cancer cells, is known as 'guardian of the genome,' because it can promote DNA repair or arrest growth in response to DNA damage. (infectioncontroltoday.com)
  • This Technical Bulletin provides instructions for CRISPR-Cas9 genome editing and maintenance of human CD34 + cells, including optimized pre- and post-editing culture conditions and methods to evaluate genome editing efficiency. (stemcell.com)
  • Since multiple transcript and protein variants expressed by the same gene are, by definition, structurally distinct and need not to be functionally equivalent, the concept of gene orthology should be extended to the transcript level in order to describe evolutionary relationships between structurally similar transcript variants. (biomedcentral.com)
  • Our data suggest that current gene and transcript data may still be rather incomplete - with several splicing variants still unknown. (biomedcentral.com)
  • Changes in your genes are also called gene variants or mutations. (medlineplus.gov)
  • 13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)
  • 1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
  • p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (medscape.com)
  • Except for evidence of a rearrangement in a single leiomyosarcoma cell line, SK-UT-1, we have found no direct evidence to support a role for mutation of the gene in the development of human soft-tissue tumours. (nih.gov)
  • SSCP (single-strand conformation polymorphism) analysis and direct sequencing of polymerase chain reaction (PCR)-amplified DNA were used to establish that 6/29 tumours possessed point mutations of the p53 gene. (nih.gov)
  • In human carcinomas, mutations that alter tumour genes such as the K RAS , P53 , or APC genes, are mostly point mutations. (degruyter.com)
  • In the present communication, a new approach is described which makes possible the detection of unknown point mutations in tumour genes at excess of wild type alleles. (degruyter.com)
  • This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)
  • Rothmund-Thomson syndrome (poikiloderma congenitale) has been attributed to mutations of the RECQL4 gene on 8q24, which encodes a RecQ DNA helicase. (medscape.com)
  • Dudgeon C * , Chan CS * , Kang W, Sun Y, Emerson R, Robins H, Levine A. The evolution of thymic lymphomas in p53 knock-out mice. (cinj.org)
  • Strict orthology of genes requires vertical descent from a common ancestor in the absence of intervening gene duplications, and it is often interpreted as indicating functional equivalence. (biomedcentral.com)
  • 18-20 p16 INK4a shares functional similarities with p53 in that it blocks progression through the cell cycle at G1/S by inhibiting CDK 4/6 mediated phosphorylation of Rb. (bmj.com)
  • The aim of the present study was to elucidate the functional role of NDRG1 in human prostate cancer. (scirp.org)
  • Once activated, p53 coordinates multiple downstream pathways, thereby maintaining the homeostasis of the host cell or organism (if the stress is mild, transient, and repairable) or eliminating damaged cells (if the stress is acute, prolonged, and difficult to resist). (nature.com)
  • N-myc downstream regulated gene 1 (NDRG1), also known as differentiation related gene 1, was previously identified as an up - regulated gene upon cellular differentiation. (scirp.org)
  • T. Napso, N. Azzam, A. Lerner and F. Fares, " N-myc Downstream Regulated Gene 1 Increases Differentiation Factors Level in Human Prostate Cancer Cells without Affecting Cell Proliferation and Cell Cycle Profiles," Journal of Cancer Therapy , Vol. 4 No. 2, 2013, pp. 568-574. (scirp.org)
  • To achieve this, p53 mainly functions as a transcription factor (TF) targeting hundreds of genes, but it also has TF-independent roles in the nucleus and cytoplasm [ 6 ]. (nature.com)
  • p53 is a transcription factor that plays an important role in preventing cancer development. (molvis.org)
  • This volume spans a broad range of topics that reflect our current understanding of genetic mechanisms in humans and other organisms. (cshlpress.com)
  • 2-Nitrotoluene was genotoxic in a range of in vitro and in vivo assays, was notably clastogenic in human peripheral lymphocytes and formed DNA adducts in exposed rodents. (gc.ca)
  • We have also examined the role of the DCC tumour-suppressor gene in the development of human soft-tissue tumours in a variety of histological types. (nih.gov)
  • In humans, a lack of oxygen is responsible for widespread tissue damage caused by heart attacks and stroke. (bbc.co.uk)
  • E ditor -The Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome that predisposes gene carriers to the development of diverse early onset malignancies, including soft tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumours, breast carcinomas, and leukaemia, 1-3 with other cancer types occurring less frequently. (bmj.com)
  • T. Okuda and H. Kondoh, "Identification of New Genes ndr2 and ndr3 Which Are Related to Ndr1/RTP/Drg1 but Show Distinct Tissue Specificity and Response to Nmyc," Biochemical and Biophysical Research Communications, Vol. 266, No. 1, 1999, pp. 208-215. (scirp.org)
  • The cell strains were derived from tissue discarded at mammoplasty and obtained through the Cooperative Human Tissue Network (NCI/NDRI). (cdc.gov)
  • Here, we review the role of ferroptosis in p53-mediated tumor suppression, with a focus on what cellular factors are critical for p53-dependent ferroptosis during tumor suppression and how p53 modulates both the canonical (GPX4-dependent) and the non-canonical (GPX4-independent) ferroptosis pathways. (nature.com)
  • Further studies are required to clarify the intra cel lular molecular pathways affecting NDRG1 function in human prostate cancer. (scirp.org)
  • Both are known p53-mediated responses to DNA damage. (nih.gov)
  • In comparison with African strains, infection by the Asian strain of Zika virus more potently affected the p53 gene and genes connected with cells' responses to viral infection, such as interferons. (infectioncontroltoday.com)
  • Goldberg said, "Preliminary studies have shown responses in sarcoma patients with P53 mutations. (medscape.com)
  • Exposure response to oxythioquinox in NHMEC: impact of p53 polymorphisms. (cdc.gov)
  • Risk Modulation of Oral Pre Cancer and Cancer with Polymorphisms in XPD and XPG Genes in North Indian Population. (cdc.gov)
  • The strong antiproliferative activity of p53 may have detrimental effects in normal cells if it is activated inappropriately. (molvis.org)
  • Here, double-walled microspheres were used to deliver doxorubicin (Dox) and/or chitosan-DNA nanoparticles containing the gene encoding the p53 tumor suppressor protein (chi-p53), loaded in the core and shell phases, respectively. (uky.edu)
  • RNAi-Mediated Targeting of Noncoding and Coding Sequences in DNA Repair Gene Messages Efficiently Radiosensitizes Human Tumor Cells. (nih.gov)
  • We then transferred the HSV-TK gene to target cells SW1990 using these progeny virions, and treated these gene-modified tumor cells with GCV to study the sensitivity of the cells to GCV and their bystander effects by routine MTT-method. (wjgnet.com)
  • Each dataset was divided in three groups of patients depending on the 20-gene score, and the survival of each group was represented in Kaplan-Meier curves. (biomedcentral.com)
  • Survival curves for good prognosis (orange line) and poor prognosis (grey line) breast cancer patients according to 70-gene and 76-gene prognosis profiles are showed ( a and b , respectively). (biomedcentral.com)
  • On the right of each survival plot, there are heat maps of the corresponding datasets, and the numbers represent the number of patients in each 20-gene score group. (biomedcentral.com)
  • This concept of evolutionary medicine of learning, what we can from nature around us is very exciting and we think holds great promise for treating our human patients. (utah.edu)
  • However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
  • No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)
  • 6FLHQWLILF VWUDWHJ\ The Agency pursues three main objectives: the identification of the causes of human cancer, the elucidation of the mechanisms of carcinogenesis and the development of scientific strategies for cancer prevention. (who.int)
  • Potential Mechanisms for Cancer Resistance in Elephants and Comparative Cellular Response to DNA Damage in Humans. (nih.gov)
  • Lead researcher Professor Joel Rothman said the findings indicate p53 helps the animal react to quite different environmental stresses. (bbc.co.uk)
  • Nicola Hawe, science information officer at the Cancer Research Campaign, said the work stressed how important it was to carry out research on organisms that on the surface seem to have little relevance to human disease. (bbc.co.uk)
  • One of the most important functions of the tumor suppressor p53 protein is its sequence-specific binding to DNA. (nih.gov)
  • In contrast to full-length p53, the isolated core domain did not show any significant correlation between sequence-specific DNA binding and fragment length. (nih.gov)
  • In other words, the identification of true orthology relationships between gene products now should progress beyond primary sequence and "splicing orthology", consisting in ancestrally shared exon-intron structures, is required to define orthologous isoforms at transcript level. (biomedcentral.com)
  • Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.org)
  • These had all been previously screened for the presence of p53 mutations in exons 2 and 4-11 by single strand conformational polymorphism (SSCP) analysis and DNA sequencing as previously described. (bmj.com)
  • Most mutations found are of missense type and located in the central region of the gene (exons 5 to 8). (lu.se)
  • Our results are consistent with a model of the p53-DNA interactions involving one-dimensional migration of the p53 protein along the DNA for distances of about 1000 bp while searching for its target sites. (nih.gov)
  • Positioning of the p53 target in the DNA fragment did not substantially affect the apparent p53-DNA binding, suggesting that p53 can slide along the DNA in a bi-directional manner. (nih.gov)
  • In the first decade since its discovery, p53 was considered an oncogene. (nature.com)
  • Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)
  • Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the RECQL4 helicase gene on 8q24. (medscape.com)
  • Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (medscape.com)
  • Tests to detect antibody to human immunodeficiency virus (HIV), the virus that causes acquired immunodeficiency syndrome (AIDS), were first licensed by the Food and Drug Administration (FDA) in 1985, primarily as screening tests for blood and plasma donation. (cdc.gov)
  • 312 amino acid substitution-causing variant in 3 long QT syndrome gene SCN5A in F10, LQT in transmembrane domain (N/TM/C) in F11, LQT in loop regions in F12. (lu.se)