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Journal articles on the topic 'Genes TP53/genetics'

Author: Grafiati

Published: 4 June 2021

Last updated: 17 February 2022

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1

Anselmo, N. P., J. A. Rey, L. O. Almeida, et al. "Concurrent sequence variation of TP53 and TP73 genes in anaplastic astrocytoma." Genetics and Molecular Research 8, no. 4 (2009): 1257–63. http://dx.doi.org/10.4238/vol8-4gmr631.

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2

Vasmatzis, George, Sarah H. Johnson, Ryan A. Knudson, et al. "Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas." Blood 120, no. 11 (2012): 2280–89. http://dx.doi.org/10.1182/blood-2012-03-419937.

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Abstract Peripheral T-cell lymphomas (PTCLs) are aggressive malignancies of mature T lymphocytes with 5-year overall survival rates of only ∼ 35%. Improvement in outcomes has been stymied by poor understanding of the genetics and molecular pathogenesis of PTCL, with a resulting paucity of molecular targets for therapy. We developed bioinformatic tools to identify chromosomal rearrangements using genome-wide, next-generation sequencing analysis of mate-pair DNA libraries and applied these tools to 16 PTCL patient tissue samples and 6 PTCL cell lines. Thirteen recurrent abnormalities were identi

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3

Saffari-Chaleshtori, Javad, Mohammad-Amin Tabatabaiefar, Payam Ghasemi-Dehkordi, Effat Farokhi, Mohammad-Taghi Moradi, and Morteza Hashemzadeh-Chaleshtori. "The lack of correlation between TP53 mutations and gastric cancer: A report from a province of Iran." Genetika 49, no. 1 (2017): 235–46. http://dx.doi.org/10.2298/gensr1701235s.

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Gastric cancer ranks second cause of cancer death worldwide after lung cancer. Its etiology is heterogeneous and genetic factors including protooncogenes and tumor suppressor genes always contribute to the progression of cancer. The TP53 tumor suppressor gene has a broad role in genomic stability and DNA repair. The aim of this study was to determine the TP53 gene mutations in gastric cancer specimens in Chaharmahal Va Bakhtiari province of Iran. In this descriptive-lab based study, we investigated the promoter and exons of TP53 gene mutations in 38 paraffin-embedded gastric cancer specimens.

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4

Strauss, Bernard S. "Hypermutability in Carcinogenesis." Genetics 148, no. 4 (1998): 1619–26. http://dx.doi.org/10.1093/genetics/148.4.1619.

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Abstract The presence of numerous chromosomal changes and point mutations in tumors is well established. At least some of these changes play a role in the development of the tumors. It has been suggested that the number of these genetic changes requires that tumorigenesis involves an increase in mutation rate. However, the presence of numerous changes can also be accounted for by efficient selection. What is required to settle the issue is some measure of nonselected mutations in tumors. In order to determine whether the tumor suppressor TP53 (coding for the protein p53) is hypermutable at som

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Pouladi, Nasser, Mojtaba Shavali, and Sepehr Abdolahi. "Combined Genotype Effects of TP53 and PAI-1 Polymorphisms in Breast Cancer Susceptibility: Multifactor Dimensionality Reduction and in silico Analysis." Human Heredity 85, no. 2 (2020): 51–60. http://dx.doi.org/10.1159/000514398.

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<b><i>Introduction:</i></b> Breast cancer is a heterogeneous and multifactorial disease. <i>TP53</i> and <i>PAI-1</i> as important tumor suppressor genes are involved in the development, invasion, and metastasis of many cancers. This study’s objective was to demonstrate the combined genotype effects of these 2 genes by investigating their single nucleotide polymorphisms. <b><i>Methods:</i></b> In this case-control study, 200 individuals with breast cancer and 179 healthy individuals were studied. The genotypes were determi

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Wu, Guang, Fei Wang, Kai Li, et al. "Significance of TP53 mutation in bladder cancer disease progression and drug selection." PeerJ 7 (December 16, 2019): e8261. http://dx.doi.org/10.7717/peerj.8261.

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Background The tumor protein p53 (TP53) mutant is one of the most frequent mutant genes in bladder cancer. In this study, we assessed the importance of the TP53 mutation in bladder cancer progression and drug selection, and identified potential pathways and core genes associated with the underlying mechanisms. Methods Gene expression data used in this study were downloaded from The Cancer Genome Atlas and cBioportal databases. Drug sensitivity data were obtained from the Genomics of Drug Sensitivity in Cancer. We did functional enrichment analysis by gene set enrichment analysis (GSEA) and the

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Freudenstein, Donald, Cassandra Litchfield, Franco Caramia, et al. "TP53 Status, Patient Sex, and the Immune Response as Determinants of Lung Cancer Patient Survival." Cancers 12, no. 6 (2020): 1535. http://dx.doi.org/10.3390/cancers12061535.

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Lung cancer poses the greatest cancer-related death risk and males have poorer outcomes than females, for unknown reasons. Patient sex is not a biological variable considered in lung cancer standard of care. Correlating patient genetics with outcomes is predicted to open avenues for improved management. Using a bioinformatics approach across non-small cell lung cancer (NSCLC) subtypes, we identified where patient sex, mutation of the major tumor suppressor gene, Tumour protein P53 (TP53), and immune signatures stratified outcomes in lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (

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Cerrato, Aniello, Valentina De Falco, and Massimo Santoro. "Molecular genetics of medullary thyroid carcinoma: the quest for novel therapeutic targets." Journal of Molecular Endocrinology 43, no. 4 (2009): 143–55. http://dx.doi.org/10.1677/jme-09-0024.

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Medullary thyroid carcinoma (MTC) is a rare tumour arising from neural crest-derived parafollicular C-cells. Metastatic MTC patients are incurable because the cancer does not respond to radiotherapy or chemotherapy. The REarranged during Transfection (RET) proto-oncogene plays a key role in the development of MTC. However, one-half of the sporadic MTC do not carry RET mutations. Mice models and early evidence obtained in human samples suggest that other genes, including those encoding components of the RB1 (retinoblastoma) and TP53 tumour-suppressor pathways, may be involved in MTC formation.

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Mirgayazova, Regina, Raniya Khadiullina, Vitaly Chasov, et al. "Therapeutic Editing of the TP53 Gene: Is CRISPR/Cas9 an Option?" Genes 11, no. 6 (2020): 704. http://dx.doi.org/10.3390/genes11060704.

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The TP53 gene encodes the transcription factor and oncosuppressor p53 protein that regulates a multitude of intracellular metabolic pathways involved in DNA damage repair, cell cycle arrest, apoptosis, and senescence. In many cases, alterations (e.g., mutations of the TP53 gene) negatively affect these pathways resulting in tumor development. Recent advances in genome manipulation technologies, CRISPR/Cas9, in particular, brought us closer to therapeutic gene editing for the treatment of cancer and hereditary diseases. Genome-editing therapies for blood disorders, blindness, and cancer are cur

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Chiereghin, Chiara, Erica Travaglino, Matteo Zampini, et al. "The Genetics of Myelodysplastic Syndromes: Clinical Relevance." Genes 12, no. 8 (2021): 1144. http://dx.doi.org/10.3390/genes12081144.

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Myelodysplastic syndromes (MDS) are a clonal disease arising from hematopoietic stem cells, that are characterized by ineffective hematopoiesis (leading to peripheral blood cytopenia) and by an increased risk of evolution into acute myeloid leukemia. MDS are driven by a complex combination of genetic mutations that results in heterogeneous clinical phenotype and outcome. Genetic studies have enabled the identification of a set of recurrently mutated genes which are central to the pathogenesis of MDS and can be organized into a limited number of cellular pathways, including RNA splicing (SF3B1,

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11

Corrêa, Debora Cabral de Carvalho, Indhira Dias-Oliveira, Maria Teresa de Seixas Alves, et al. "Identification of genetic alterations in childhood and adolescence glioblastoma (GBM) using next generation sequencing strategy." Journal of Clinical Oncology 38, no. 15_suppl (2020): e14547-e14547. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e14547.

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e14547 Background: Glioblastoma (GBM) is the most aggressive brain malignancy with a heterogeneity molecular profile and accounts for no more than 3-5% of Central Nervous System tumors in children. Despite its rarity, pediatric GBM pertain different molecular genetics, outcome and effectiveness to therapies and remains an equally lethal tumor in children. Identification of genetic alterations in GBM of childhood and adolescence is important to refine molecular classification, define prognosis and therapeutic strategies. We aimed to detect and investigate molecular changes with potential progno

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Li, Jia, Zhaoyan Li, Yajie Ding, et al. "TP53 mutation and MET amplification in circulating tumor DNA analysis predict disease progression in patients with advanced gastric cancer." PeerJ 9 (April 16, 2021): e11146. http://dx.doi.org/10.7717/peerj.11146.

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Background Gastric cancer (GC) is a heterogeneous disease that encompasses various molecular subtypes. The molecular mutation characteristics of circulating tumor DNA (ctDNA) in advanced gastric cancer (AGC), especially the clinical utility of TP53 mutation and MET amplification in ctDNA need to be further explored. Objectives The aim of this study was mainly to assess the clinical utility of TP53 mutation and MET amplification in ctDNA as biomarkers for monitoring disease progression of AGC. Patients and Methods We used multigene NGS-panel technology to study the characteristics of ctDNA gene

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Hamad, Samera H., Marielle C. Brinkman, Yi-Hsuan Tsai, et al. "Pilot Study to Detect Genes Involved in DNA Damage and Cancer in Humans: Potential Biomarkers of Exposure to E-Cigarette Aerosols." Genes 12, no. 3 (2021): 448. http://dx.doi.org/10.3390/genes12030448.

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There is a paucity of data on how gene expression enables identification of individuals who are at risk of exposure to carcinogens from e-cigarette (e-cig) vaping; and how human vaping behaviors modify these exposures. This pilot study aimed to identify genes regulated from acute exposure to e-cig using RT-qPCR. Three subjects (2M and 1F) made three visits to the lab (nTOT = 9 visits); buccal and blood samples were collected before and immediately after scripted vaping 20 puffs (nTOT = 18 samples); vaping topography data were collected in each session. Subjects used their own e-cig containing

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14

Salwa, Amreen, Alessandra Ferraresi, Menaka Chinthakindi, et al. "BECN1 and BRCA1 Deficiency Sensitizes Ovarian Cancer to Platinum Therapy and Confers Better Prognosis." Biomedicines 9, no. 2 (2021): 207. http://dx.doi.org/10.3390/biomedicines9020207.

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Background: BRCA1, BECN1 and TP53 are three tumor suppressor genes located on chromosome 17 and frequently found deleted, silenced, or mutated in many cancers. These genes are involved in autophagy, apoptosis, and drug resistance in ovarian cancer. Haploinsufficiency or loss-of-function of either TP53, BRCA1 or BECN1 correlates with enhanced predisposition to cancer development and progression, and chemoresistance. Expectedly, the combined altered expression of these three tumor suppressor genes worsens the prognosis of ovarian cancer patients. However, whether such a genotypic pattern indeed

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Tahara, Sayumi, Tomomitsu Tahara, Noriyuki Horiguchi, et al. "Lower LINE-1 methylation is associated with promoter hypermethylation and distinct molecular features in gastric cancer." Epigenomics 11, no. 15 (2019): 1651–59. http://dx.doi.org/10.2217/epi-2019-0091.

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Aim: To investigate the associations between LINE1 methylation, an indicator for genome-wide hypomethylation, molecular and clinicopathological characteristics of gastric cancer (GC) patients. Patients & methods: LINE1 methylation statuses were examined in paired cancerous, non-neoplastic mucosa from 217 GC and gastric mucosa from separate group of 224 noncancer patients. CpG island methylator phenotype, TP53 and KRAS mutation, MLH1 methylation status and promoter hypermethylation of GC related and H. pylori-related genes were examined. Results: Lower LINE1 methylation was observed in prim

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Smyczyńska, Urszula, Damian Strzemecki, Anna M. Czarnecka, et al. "TP53-Deficient Angiosarcoma Expression Profiling in Rat Model." Cancers 12, no. 6 (2020): 1525. http://dx.doi.org/10.3390/cancers12061525.

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Sarcomas are a heterogeneous group of malignant tumors, that develop from mesenchymal cells. Sarcomas are tumors associated with poor prognosis and expected short overall survival. Efforts to improve treatment efficacy and treatment outcomes of advanced and metastatic sarcoma patients have not led to significant improvements in the last decades. In the Tp53C273X/C273X rat model we therefore aimed to characterize specific gene expression pattern of angiosarcomas with a loss of TP53 function. The presence of metabolically active tumors in several locations including the brain, head and neck, ext

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Zakrzewska, Magdalena, Izabela Wojcik, Krzysztof Zakrzewski, et al. "Mutational analysis of hSNF5/INI1 and TP53 genes in choroid plexus carcinomas." Cancer Genetics and Cytogenetics 156, no. 2 (2005): 179–82. http://dx.doi.org/10.1016/j.cancergencyto.2004.05.002.

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18

Hauke, Jan, Eric Hahnen, Stephanie Schneider, et al. "Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883)." Journal of Medical Genetics 56, no. 9 (2019): 574–80. http://dx.doi.org/10.1136/jmedgenet-2018-105930.

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BackgroundFor individuals with ovarian cancer (OC), therapy options mainly depend on BRCA1/2 germline status. What is the prevalence of deleterious somatic variants, that is, does genetic tumour testing identify subgroups of individuals who also might benefit from targeted therapy?MethodsPaired analysis of tumour-derived versus blood-derived DNA to determine the prevalence of deleterious somatic variants in OC predisposition genes (ATM, BRCA1/2, BRIP1, MSH2/6, PALB2, RAD51C/D and TP53) and the PIK3CA and PTEN genes in individuals with OC (AGO-TR1 study, NCT02222883). Results were complemented

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Choi, Jungmin, Aranzazu Manzano, Weilai Dong, et al. "Integrated mutational landscape analysis of uterine leiomyosarcomas." Proceedings of the National Academy of Sciences 118, no. 15 (2021): e2025182118. http://dx.doi.org/10.1073/pnas.2025182118.

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Uterine leiomyosarcomas (uLMS) are aggressive tumors arising from the smooth muscle layer of the uterus. We analyzed 83 uLMS sample genetics, including 56 from Yale and 27 from The Cancer Genome Atlas (TCGA). Among them, a total of 55 Yale samples including two patient-derived xenografts (PDXs) and 27 TCGA samples have whole-exome sequencing (WES) data; 10 Yale and 27 TCGA samples have RNA-sequencing (RNA-Seq) data; and 11 Yale and 10 TCGA samples have whole-genome sequencing (WGS) data. We found recurrent somatic mutations in TP53, MED12, and PTEN genes. Top somatic mutated genes included TP5

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Furuya, Tatiane K., Carlos E. Jacob, Michele T. P. Tomitão, et al. "Association between Polymorphisms in Inflammatory Response-Related Genes and the Susceptibility, Progression and Prognosis of the Diffuse Histological Subtype of Gastric Cancer." Genes 9, no. 12 (2018): 631. http://dx.doi.org/10.3390/genes9120631.

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The chronic inflammatory microenvironment and immune cell dysfunction have been described as critical components for gastric tumor initiation and progression. The diffuse subtype is related to poor clinical outcomes, pronounced inflammation, and the worst prognosis. We investigated the association of polymorphisms in inflammatory response-related genes (COX-2, OGG1, TNFB, TNFA, HSPA1L, HSPA1B, VEGFA, IL17F, LGALS3, PHB, and TP53) with gastric cancer susceptibility, progression and prognosis in a Brazilian sample, focusing on the diffuse subtype. We also performed the analysis regarding the tot

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Arghavanian, Yalda, Mina Adampour, Nasser Pouladi, et al. "The single nucleotide polymorphism arg399gln rs25487 in XRCC1 gene is a breast cancer risk factor, but is not related to tp53 mutation status." Genetika 52, no. 3 (2020): 867–79. http://dx.doi.org/10.2298/gensr2003867a.

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Genetic changes in DNA repair genes, such as X-ray cross-complementing group1 (XRCC1), can cause modifications in the capacity of damaged DNA repair and affect the risk of cancer. Several mutations in TP53, which is a tumor suppressor gene, have been associated with breast cancer. In this study, it is aimed to evaluate the association of genetic variation in XRCC1rs25487 single nucleotide polymorphism (SNP) with TP53 mutation and breast cancer risk. In this research, 200 breast cancer women and 200 controls from the Iranian-Azeri population, Iran, were enrolled. Genomic DNA was extracted from

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Mazzoni, Sandra, Brian T. Hess, Cynthia Schandl, et al. "Title: SNP Microarray Reveals Predicted Outcomes of a Novel High Risk AML Subgroup with ERG Amplification." Blood 134, Supplement_1 (2019): 2737. http://dx.doi.org/10.1182/blood-2019-121408.

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Increased expression of ERG (ETS-related gene), a proto-oncogene within the ETS (erythroblast transformation specific) family, is associated with an unfavorable clinical outcome in AML patients. A mechanism for ERG over-expression is ERG amplification. ERG amplification is present in 4-6% of adult AML. This study investigates the genetic profile of ERG-amplified AML by assessment of genomic copy number changes and mutational status of AML-related genes and how this correlates to treatment response and overall outcome. Currently copy number analysis is not recommended by ELN or WHO as a diagnos

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Olkova, MV, VS Petrushenko, and GYu Ponomarev. "Analysis of 13 TP53 and WRAP53 polymorphism frequencies in russian populations." Features of HIV and SARS-CoV-2 coinfection in a pandemic, no. 2021(1) (January 2021): 30–39. http://dx.doi.org/10.24075/brsmu.2021.001.

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In the last decade the search for and annotation of human genome polymorphisms associated with phenotype have become particularly important concerning the opportunity of their use in medical and population genetics, pharmacogenomics and evolutionary biology. The study was aimed to calculate the frequencies and analyze the prevalence of 13 germline polymorphisms of two genes, ТР53 encoding the genome-keeper p53 protein and WRAP53 involved in regulation of p53 production, in 28 Russian populations. We obtained data on 9 exonic ТР53 variants (rs587781663, rs17882252, rs150293825, rs112431538, rs1

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Nielsen, Sarah M., Diana M. Eccles, Iris L. Romero, et al. "Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group." JCO Precision Oncology, no. 2 (November 2018): 1–42. http://dx.doi.org/10.1200/po.18.00091.

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Purpose To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non- BRCA1/ 2 genes. Methods Data were collected via in-person and paper/electronic surveys. ENIGMA members from around the world were invited to participate. Additional information was collected via country networks in the United Kingdom and in Italy. Results Responses from 61

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Kim, Jung, Nicholas Light, Vallijah Subasri, et al. "Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma." JCO Precision Oncology, no. 5 (January 2021): 75–87. http://dx.doi.org/10.1200/po.20.00218.

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PURPOSE Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue sarcoma and accounts for 3% of all pediatric cancer. In this study, we investigated germline sequence and structural variation in a broad set of genes in two large, independent RMS cohorts. MATERIALS AND METHODS Genome sequencing of the discovery cohort (n = 273) and exome sequencing of the secondary cohort (n = 121) were conducted on germline DNA. Analyses were performed on 130 cancer susceptibility genes (CSG). Pathogenic or likely pathogenic (P/LP) variants were predicted using the American College of Medical Genetics a

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Győrffy, Balázs, Giulia Bottai, Jacqueline Lehmann-Che, et al. "TP53 mutation-correlated genes predict the risk of tumor relapse and identify MPS1 as a potential therapeutic kinase in TP53 -mutated breast cancers." Molecular Oncology 8, no. 3 (2014): 508–19. http://dx.doi.org/10.1016/j.molonc.2013.12.018.

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Emam, Mohamed, João Paulo Machado, and Agostinho Antunes. "Evolutionary genomics of mammalian lung cancer genes reveals signatures of positive selection in APC, RB1 and TP53." Genomics 112, no. 6 (2020): 4722–31. http://dx.doi.org/10.1016/j.ygeno.2020.08.020.

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Chen, Yue, Xiaofei Yu, and Jia Kong. "Identification of Neuropeptides as Potential Crosstalks Linking Down Syndrome and Periodontitis Revealed by Transcriptomic Analyses." Disease Markers 2021 (September 10, 2021): 1–18. http://dx.doi.org/10.1155/2021/7331821.

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Background. This bioinformatics study was aimed to investigate the relationship between periodontitis (PD) and Down Syndrome (DS) regarding potential crosstalk genes, related neuropeptides, and biological processes. Methods. Data for PD (GSE23586, GSE10334 and GSE16134) and DS (GSE35665) were downloaded from NCBI Gene Expression Omnibus (GEO). Following normalization and merging of PD data, differential expression analysis was performed ( p value < 0.05 and ∣ log FC ∣ ≥ 0.5 ). The common deregulated genes between PD and DS were considered as crosstalk genes. The significantly differentially

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Robbe, Pauline, Romain Guièze, Ruth M. Clifford, et al. "Mutational Landscape of 118 Relapsed Chronic Lymphocytic Leukemia Clinical Trial Samples; Evidence for a Multiple-Hit Profile Using Targeted Next Generation Sequencing." Blood 124, no. 21 (2014): 1974. http://dx.doi.org/10.1182/blood.v124.21.1974.1974.

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Abstract Background: Previous studies using next-generation sequencing (NGS) have led to the identification of a number of genes mutated frequently in CLL. Recent publications focus on the most recurrently mutated genes (TP53, SF3B1 and NOTCH1) which tend to be mutually exclusive. Large series of untreated patients have shown that these mutations have a prognostic impact. Relapse may be associated with more frequent mutational events. Further investigation of relapsed CLL genomes within a clinical trial setting using a comprehensive NGS gene panel is required. Methods: Using targeted NGS we de

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Li, Diangeng, Peng Wang, Yi Yu, et al. "Tumor-preventing activity of aspirin in multiple cancers based on bioinformatic analyses." PeerJ 6 (September 26, 2018): e5667. http://dx.doi.org/10.7717/peerj.5667.

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Background Acetylsalicylic acid was renamed aspirin in 1899, and it has been widely used for its multiple biological actions. Because of the diversity of the cellular processes and diseases that aspirin reportedly affects and benefits, uncertainty remains regarding its mechanism in different biological systems. Methods The Drugbank and STITCH databases were used to find direct protein targets (DPTs) of aspirin. The Mentha database was used to analyze protein–protein interactions (PPIs) to find DPT-associated genes. DAVID was used for the GO and KEGG enrichment analyses. The cBio Cancer Genomic

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Liu, Yanming, Yue Cao, Wencan Cai, Liangyin Wu, Pingsen Zhao, and Xin-guang Liu. "Aberrant expression of two miRNAs promotes proliferation, hepatitis B virus amplification, migration and invasion of hepatocellular carcinoma cells: evidence from bioinformatic analysis and experimental validation." PeerJ 8 (April 29, 2020): e9100. http://dx.doi.org/10.7717/peerj.9100.

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Background As key negative regulators of gene expression, microRNAs (miRNAs) play an important role in the onset and progression of hepatocellular carcinoma (HCC). This study aimed to identify the miRNAs involved in HCC carcinogenesis and their regulated genes. Methods The Gene Expression Omnibus (GEO) dataset (GSE108724) was chosen and explored to identify differentially expressed miRNAs using GEO2R. For the prediction of potential miRNA target genes, the miRTarBase was explored. Enrichment analysis of Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) was performed by

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Vilas–Zornoza, Amaia, Xabier Agirre, Vanesa Martín-Palanco, et al. "Frequent and Simultaneous Epigenetic Inactivation of TP53 Pathway Genes in Acute Lymphoblastic Leukemia." PLoS ONE 6, no. 2 (2011): e17012. http://dx.doi.org/10.1371/journal.pone.0017012.

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Zmorzyński, Szymon, Magdalena Wojcierowska-Litwin, Małgorzata Kowal, et al. "NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis." BioMed Research International 2020 (February 25, 2020): 1–9. http://dx.doi.org/10.1155/2020/8465971.

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Introduction. NOTCH pathway and TP53 protein are involved in the development of fibrosis and autoimmune disorders, respectively. The aim of this study was to evaluate the role of single nucleotide polymorphisms (SNPs) of NOTCH3 and TP53 genes and serum anti-TP53 antibodies with the susceptibility, clinical subset of systemic sclerosis (SSc), and clinical profile of SSc patient, particularly with lung involvement and disease activity. Objects and Methods. 124 white Polish SSc patients (101 with limited cutaneous SSc–lcSSc, and 23 with diffuse cutaneous SSc–dcSSc) and 100 healthy individuals wer

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Burtness, Barbara, Alexander Deneka, Yasmine Baca, et al. "Correlation of tumor mutational burden (TMB) with CDKN2A and TP53 mutation in HPV-negative head and neck squamous cell carcinoma (HNSCC)." Journal of Clinical Oncology 38, no. 15_suppl (2020): 6552. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.6552.

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6552 Background: The tumor suppressors TP53 and CDKN2A are commonly mutated or lost in HNSCC, impairing G1 checkpoints. This reduces ability to repair DNA damage arising from hypoxia, replication stress, and mutagen exposure, thus increasing TMB, a potential predictive biomarker for immunotherapy benefit. TP53 mutations can be classified as loss-of-function (LOF) with or without dominant negative (DNE) activity, gain-of-function (GOF) and benign. We investigated whether specific categories of TP53 mutation were associated with increased TMB, and whether these cooperated with CDKN2A mutation to

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Samowitz, Wade S., Roger K. Wolff, Khe Ni Ma, Kristen Andersen, Bette Caan, and Martha L. Slattery. "Polymorphisms in insulin-related genes predispose to specific KRAS2 and TP53 mutations in colon cancer." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 595, no. 1-2 (2006): 117–24. http://dx.doi.org/10.1016/j.mrfmmm.2005.10.014.

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Kerr, Cassandra M., Vera Adema, Wencke Walter, et al. "Genetics of Monosomy 7 and Del(7q) in MDS Informs Potential Therapeutic Targets." Blood 134, Supplement_1 (2019): 1703. http://dx.doi.org/10.1182/blood-2019-126866.

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Monosomy (-7) and deletions of the long arm of chromosome 7 (del7q) are frequently found in patients with myeloid neoplasms, suggesting a crucial role of this region in disease pathogenicity. -7/del7q conveys a poor prognosis and no targeted therapies exist for patients harboring this defect. We previously characterized the most common deleted regions (CDR) of del7q, including 7q22, 7q34, and 7q35-36, as well as micro deletions on del7q indicative of pathogenic genes. Unlike del5q, -7/del7q is affected both by deletions and somatic UPD, suggesting that loss of heterozygosity (LOH), rather than

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Tornesello, Maria Lina, Luigi Buonaguro, Fabiana Tatangelo, Gerardo Botti, Francesco Izzo, and Franco M. Buonaguro. "Mutations in TP53, CTNNB1 and PIK3CA genes in hepatocellular carcinoma associated with hepatitis B and hepatitis C virus infections." Genomics 102, no. 2 (2013): 74–83. http://dx.doi.org/10.1016/j.ygeno.2013.04.001.

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Martinez, Angélica, John M. Hinz, Laura Gómez, et al. "Differential expression of TP53 associated genes in Fanconi anemia cells after mitomycin C and hydroxyurea treatment." Mutation Research/Genetic Toxicology and Environmental Mutagenesis 656, no. 1-2 (2008): 1–7. http://dx.doi.org/10.1016/j.mrgentox.2008.06.012.

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Chaudhury, Ateefa, Julio C. Chavez, and Javier Pinilla-Ibarz. "Utilization of Targeted Exome Sequencing to Determine Implications of TP53 Mutation Status in Relation to 17p Deletion in Chronic Lymphocytic Leukemia (CLL)." Blood 124, no. 21 (2014): 3287. http://dx.doi.org/10.1182/blood.v124.21.3287.3287.

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Abstract Background: Advances in molecular genetics have changed the risk stratification and treatment of patients with Chronic Lymphocytic Leukemia (CLL). Previous studies have shown the worst patient outcomes associated with 17p deletion from diminished overall and progression free survival, in addition to lack of response to conventional Fludarabine based chemotherapy regimens. More recently, analyses of the role of TP53 mutation utilizing next generation sequencing (NGS) in CLL patients has shown that it may also be associated with poor prognosis and similar outcomes to those patients with

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Datta, Arindam, Pijush Das, Sanjib Dey, et al. "Genome-Wide Small RNA Sequencing Identifies MicroRNAs Deregulated in Non-Small Cell Lung Carcinoma Harboring Gain-of-Function Mutant p53." Genes 10, no. 11 (2019): 852. http://dx.doi.org/10.3390/genes10110852.

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Mutations in the TP53 gene are one of the most frequent events in cancers. Certain missense mutant p53 proteins gain oncogenic functions (gain-of-functions) and drive tumorigenesis. Apart from the coding genes, a few non-coding microRNAs (miRNAs) are implicated in mediating mutant p53-driven cancer phenotypes. Here, we identified miRNAs in mutant p53R273H bearing non-small cell lung carcinoma (NSCLC) cells while using small RNA deep sequencing. Differentially regulated miRNAs were validated in the TCGA lung adenocarcinoma patients with p53 mutations and, subsequently, we identified specific mi

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Lemberg, Kathryn M., Jiawan Wang, and Christine A. Pratilas. "From Genes to -Omics: The Evolving Molecular Landscape of Malignant Peripheral Nerve Sheath Tumor." Genes 11, no. 6 (2020): 691. http://dx.doi.org/10.3390/genes11060691.

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Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive soft tissue sarcomas that occur with significantly increased incidence in people with the neuro-genetic syndrome neurofibromatosis type I (NF1). These complex karyotype sarcomas are often difficult to resect completely due to the involvement of neurovascular bundles, and are relatively chemotherapy- and radiation-insensitive. The lifetime risk of developing MPNST in the NF1 population has led to great efforts to characterize the genetic changes that drive the development of these tumors and identify mutations that may be use

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Zheng, Guo-Yang, Xue-Bin Zhang, Han-Zhong Li, Yu-Shi Zhang, Jian-Hua Deng, and Xing-Cheng Wu. "Sum of High-Risk Gene Mutation (SHGM): A Novel Attempt to Assist Differential Diagnosis for Adrenocortical Carcinoma with Benign Adenoma, Based on Detection of Mutations of Nine Target Genes." Biochemical Genetics 59, no. 4 (2021): 902–18. http://dx.doi.org/10.1007/s10528-021-10039-w.

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AbstractThere has been no research on applying gene detection to differential diagnosis of adrenocortical carcinoma (ACC). We attempted to explore a novel auxiliary method for differential diagnosis between ACC with benign adrenocortical adenoma (ACA), based on mutations of target genes in tissues. Nine genes were chosen as target genes, including TP53, CTNNB1, ARMC5, PRKAR1A, ZNRF3, RB1, APC, MEN1, and RPL22. Exons sequencing of target genes were performed in 98 cases of tissue samples by FastTarget technology, including 41 ACC tissues, 32 ACA tissues, and 25 normal adrenal gland tissues. Sig

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Hlavac, Viktor, Beatrice Mohelnikova-Duchonova, Martin Lovecek, et al. "Targeted Sequencing of Pancreatic Adenocarcinomas from Patients with Metachronous Pulmonary Metastases." Genes 11, no. 12 (2020): 1391. http://dx.doi.org/10.3390/genes11121391.

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Mutation spectra of 250 cancer driver, druggable, and actionable genes were analyzed in surgically resected pancreatic ductal adenocarcinoma (PDAC) patients who developed metachronous pulmonary metastases. Targeted sequencing was performed in DNA from blood and archival samples of 15 primary tumors and three paired metastases. Results were complemented with the determination of G12V mutation in KRAS by droplet digital PCR. The median number of protein-changing mutations was 52 per patient. KRAS and TP53 were significantly enriched in fractions of mutations in hotspots. Individual gene mutation

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Olopade, Olufunmilayo. "A family-based approach to primary prevention of breast cancer." Journal of Clinical Oncology 27, no. 15_suppl (2009): s2. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.s2.

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s2 We are currently focusing on the interplay of genes and environment in the development of estrogen receptor (ER)-negative breast cancer, which is aggressive, less responsive to treatment, and more likely to strike young women and those of African ancestry. Unfortunately, there are no strategies to prevent ER-negative breast cancer and research is urgently needed. Nevertheless, we have made progress in understanding genetic risk factors for some familial forms of breast cancer, which is reason enough to adopt family-based interventions for breast cancer prevention, especially among families

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Luo, Ruirui, Xiaoyu Huang, Zunqiang Yan, et al. "Identification and Characterization of MAPK Signaling Pathway Genes and Associated lncRNAs in the Ileum of Piglets Infected by Clostridium perfringens Type C." BioMed Research International 2020 (August 13, 2020): 1–12. http://dx.doi.org/10.1155/2020/8496872.

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Clostridium perfringens type C (C. perfringens type C) is one of the main microbial pathogens responsible for piglet diarrhea worldwide, causing substantial economic losses for pig-rearing industries. The mitogen-activated protein kinase (MAPK) signaling pathway is a key regulator of inflammatory bowel disease, especially necrotic enteritis. However, whether and how the MAPK signaling pathway is involved in regulating the process of piglet diarrhea when challenged by C. perfringens type C are still unknown. Here, we screened 38 differentially expressed genes (DEGs) in piglets’ ileum tissues ex

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Saif, Rashid, Ali Raza Awan, Muhammad Tayyab, et al. "Expression Profi ling of Hspb1 and Tp53 Genes through RT-qPCR in Different Cancer Types of Canis familiaris." Iranian Journal of Biotechnology 15, no. 3 (2017): 186–93. http://dx.doi.org/10.15171/ijb.1505.

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Shaughnessy, John D., Samir Parekh, Hearn Jay Cho, et al. "Mutation Burden in Multiple Myeloma Is Captured By Gene Expression Profiles." Blood 128, no. 22 (2016): 4450. http://dx.doi.org/10.1182/blood.v128.22.4450.4450.

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Abstract In the current study we sought to determine whether mutation burden (MB) is reflected in gene expression patterns. We generated 389 gene expression profiles and 311 mutation profiles from 182 cases, split into a training set of 97 and test set of 84. Copy number variants (CNV), rearrangements (TX) and short variant mutations (SV) were identified with FoundationOne Heme (F1) and U133Plus2.0 (u133) gene expression data, GEP70 and GEP80 risk scores, subgroup and CNV calls provided by Signal Genetics. 145 Kegg pathways, transcription factor binding sites (TFbs) for 195 TF mapped to u133 g

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Zhan, Lianghui, Jinbao Pu, Yijuan Hu, Pan Xu, Weiqing Liang, and Chunlian Ji. "Uncovering the Pharmacology of Xiaochaihu Decoction in the Treatment of Acute Pancreatitis Based on the Network Pharmacology." BioMed Research International 2021 (March 20, 2021): 1–11. http://dx.doi.org/10.1155/2021/6621682.

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Background. Xiaochaihu decoction (XD) has demonstrated the pharmacodynamics on acute pancreatitis. This study was aimed at investigating the material and molecular basis of Xiaochaihu decoction. Methods. Firstly, compounds of seven herbs containing XD were collected from the TCMSP, ETCM, and BATMAN-TCM databases, and the putative targets of pancreatitis were obtained from the OMIM, TTD, and GeneCards databases. Then, the PPI network was constructed according to the matching results between XD potential targets and pancreatic neoplasm targets. Furthermore, enrichment analysis on GO and KEGG by

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Weill, Jean-Claude, and Miroslav Radman. "How good is our genome?" Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 359, no. 1441 (2004): 95–98. http://dx.doi.org/10.1098/rstb.2003.1369.

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Our genome has evolved to perpetuate itself through the maintenance of the species via an uninterrupted chain of reproductive somas. Accordingly, evolution is not concerned with diseases occurring after the soma's reproductive stage. Following Richard Dawkins, we would like to reassert that we indeed live as disposable somas, slaves of our germline genome, but could soon start rebelling against such slavery. Cancer and its relation to the TP53 gene may offer a paradigmatic example. The observation that the latency period in cancer can be prolonged in mice by increasing the number of TP53 genes

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De Lorenzis, Elisa, Giancarlo Albo, Fabrizio Longo, Carolina Bebi, Luca Boeri, and Emanuele Montanari. "Current Knowledge on Genomic Profiling of Upper Tract Urothelial Carcinoma." Genes 12, no. 3 (2021): 333. http://dx.doi.org/10.3390/genes12030333.

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Recent research in next-generation sequencing characterized the genomic landscape of urothelial cancer. However, the majority of the studies focused on bladder cancer (BC). Upper urinary tract urothelial carcinomas (UTUC) and BC share some histological characteristics, but, considering the differences in terms of embryologic precursors, epidemiology, genetics, medical and surgical management and response to therapy, UTUC and BC should be considered as two distinct diseases. Our objective is to analyze through a literature search the latest updates and the current knowledge about the genomics o

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