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Epigenetics pathology

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https://www.readbyqxmd.com/read/29334683/epigenetic-silencing-of-the-mlh1-promoter-in-relation-to-the-development-of-gastric-cancer-and-its-use-as-a-biomarker-for-patients-with-microsatellite-instability-a-systematic-analysis
#1
Guimei Hu, Lijun Qin, Xinjun Zhang, Guoliang Ye, Tao Huang
BACKGROUND/AIMS: Human mutL homolog 1 (MLH1) promoter methylation was reported in gastric cancer (GC). This study determined the clinicopathological, prognostic, and diagnostic effects of MLH1 promoter methylation in GC. METHODS: The combined odds ratio (OR) or hazard ratio (HR) and their corresponding 95% confidence intervals (95% CI) were calculated. The pooled sensitivity, specificity, and area under the curve (AUC) were analyzed. RESULTS: A total of 4654 GC patients and 3669 non-malignant controls were identified in this systematic analysis...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29330124/manipulating-the-epigenome-for-the-treatment-of-disorders-with-thrombotic-complications
#2
REVIEW
Faith A A Kwa, Denise E Jackson
The haemostatic system is tightly regulated to maintain homeostasis to avoid unwanted bleeding or thrombotic complications. Recent research has highlighted the importance of epigenetic changes, such as DNA methylation, histone modifications, and miRNA-based mechanisms, that alter gene expression. This can give rise to dysregulated haemostatic or vascular expressed molecules contributing to the development of thrombotic complications. Targeting these epigenetic changes could provide a new avenue for the treatment of pathological blood clots...
January 9, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29330110/epigenetics-and-pathogenesis-of-systemic-sclerosis-the-ins-and-outs
#3
REVIEW
Saeed Aslani, Soheila Sobhani, Farhad Gharibdoost, Ahmadreza Jamshidi, Mahdi Mahmoudi
The pathogenesis of many diseases is influenced by environmental factors which can affect human genome and be inherited from generation to generation. Adverse environmental stimuli are recognized through the epigenetic regulatory complex, leading to gene expression alteration, which in turn culminates in disease outcomes. Three epigenetic regulatory mechanisms modulate the manifestation of a gene, namely DNA methylation, histone changes, and microRNAs. Both epigenetics and genetics have been implicated in the pathogenesis of systemic sclerosis (SSc) disease...
January 9, 2018: Human Immunology
https://www.readbyqxmd.com/read/29327713/expression-of-enhancer-of-zeste-homolog-2-ezh2-protein-in-histiocytic-and-dendritic-cell-neoplasms-with-evidence-for-p-erk1-2-related-but-not-myc-or-p-stat3-related-cell-signaling
#4
Xuejun Tian, Jie Xu, Christopher Fletcher, Jason L Hornick, David M Dorfman
EZH2 is an important enzymatic subunit of the epigenetic regulator polycomb repressive complex 2 (PRC2), which controls gene silencing through post-translational modification, and is overexpressed in various carcinomas and hematopoietic neoplasms. We found that the majority of cases of histiocytic and dendritic cell neoplasms, including histiocytic sarcoma, follicular dendritic cell sarcoma, Langerhans cell histiocytosis, and interdigitating dendritic cell sarcoma, show strong EZH2 expression by immunohistochemical staining, in contrast to benign histiocytic lesions and normal cellular counterparts, which did not show EZH2 expression, suggesting that this molecule may function as an oncogenic protein in these neoplasms...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29327641/generation-of-an-arrayed-crispr-cas9-library-targeting-epigenetic-regulators-from-high-content-screens-to-in-vivo-assays
#5
Tristan Henser-Brownhill, Josep Monserrat, Paola Scaffidi
The CRISPR-Cas9 system has revolutionized genome engineering, allowing precise modification of DNA in various organisms. The most popular method for conducting CRISPR-based functional screens involves the use of pooled lentiviral libraries in selection screens coupled with next-generation sequencing. Screens employing genome-scale pooled small guide RNA (sgRNA) libraries are demanding, particularly when complex assays are used. Furthermore, pooled libraries are not suitable for microscopy-based high-content screens or for systematic interrogation of protein function...
January 12, 2018: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/29326042/keratin-13-gene-is-epigenetically-suppressed-during-transforming-growth-factor-%C3%AE-1-induced-epithelial-mesenchymal-transition-in-a-human-keratinocyte-cell-line
#6
Mitsutoki Hatta, Yuki Miyake, Kunitoshi Uchida, Jun Yamazaki
Epithelial-mesenchymal transition (EMT) is a biological event in which epithelial cells lose their polarity and cell-cell adhesions and concomitantly acquire mesenchymal traits, and is thought to play an important role in pathological processes such as wound healing and cancer progression. In this study, we evaluated transforming growth factor (TGF)-β1-treated human keratinocyte HaCaT cells as an in vitro model of EMT. HaCaT cells were changed into an elongated fibroblast-like morphology, which is indicative of EMT in response to TGF-β1...
January 8, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29322286/hyperglycemia-and-aberrant-o-glcnacylation-contributions-to-tumor-progression
#7
REVIEW
Andréia Vasconcelos-Dos-Santos, Rafaela Muniz de Queiroz, Bruno da Costa Rodrigues, Adriane R Todeschini, Wagner B Dias
A number of cancer types have shown an increased prevalence and a higher mortality rate in patients with hyperglycemic associated pathologies. Although the correlation between diabetes and cancer incidence has been increasingly reported, the underlying molecular mechanisms beyond this association are not yet fully understood. Recent studies have suggested that high glucose levels support tumor progression through multiple mechanisms that are hallmarks of cancer, including cell proliferation, resistance to apoptosis, increased cell migration and invasiveness, epigenetic regulation (hyperglycemic memory), resistance to chemotherapy and altered metabolism...
January 11, 2018: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/29315310/dysregulation-of-valvular-interstitial-cell-let-7c-mir-17-mir-20a-and-mir-30d-in-naturally-occurring-canine-myxomatous-mitral-valve-disease
#8
Vicky K Yang, Albert K Tai, Terry P Huh, Dawn M Meola, Christine M Juhr, Nicholas A Robinson, Andrew M Hoffman
Canine myxomatous mitral valve disease (MMVD) resembles the early stages of myxomatous pathology seen in human non-syndromic mitral valve prolapse, a common valvular heart disease in the adult human population. Canine MMVD is seen in older subjects, suggesting age-related epigenetic dysregulation leading to derangements in valvular cell populations and matrix synthesis or degradation. We hypothesized that valvular interstitial cells (VICs) undergo disease-relevant changes in miRNA expression. In primary VIC lines from diseased and control valves, miRNA expression was profiled using RT-qPCR and next generation sequencing...
2018: PloS One
https://www.readbyqxmd.com/read/29311653/meta-analysis-of-epigenome-wide-association-studies-of-cognitive-abilities
#9
Riccardo E Marioni, Allan F McRae, Jan Bressler, Elena Colicino, Eilis Hannon, Shuo Li, Diddier Prada, Jennifer A Smith, Letizia Trevisi, Pei-Chien Tsai, Dina Vojinovic, Jeannette Simino, Daniel Levy, Chunyu Liu, Michael Mendelson, Claudia L Satizabal, Qiong Yang, Min A Jhun, Sharon L R Kardia, Wei Zhao, Stefania Bandinelli, Luigi Ferrucci, Dena G Hernandez, Andrew B Singleton, Sarah E Harris, John M Starr, Douglas P Kiel, Robert R McLean, Allan C Just, Joel Schwartz, Avron Spiro, Pantel Vokonas, Najaf Amin, M Arfan Ikram, Andre G Uitterlinden, Joyce B J van Meurs, Tim D Spector, Claire Steves, Andrea A Baccarelli, Jordana T Bell, Cornelia M van Duijn, Myriam Fornage, Yi-Hsiang Hsu, Jonathan Mill, Thomas H Mosley, Sudha Seshadri, Ian J Deary
Cognitive functions are important correlates of health outcomes across the life-course. Individual differences in cognitive functions are partly heritable. Epigenetic modifications, such as DNA methylation, are susceptible to both genetic and environmental factors and may provide insights into individual differences in cognitive functions. Epigenome-wide meta-analyses for blood-based DNA methylation levels at ~420,000 CpG sites were performed for seven measures of cognitive functioning using data from 11 cohorts...
January 8, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29307396/epigenetics-infertility-and-cancer-future-directions
#10
REVIEW
Emma James, Timothy G Jenkins
Although direct correlates between cancer and infertile epigenetic profiles are rare, the general similarities between the two disease processes offer insights into the study of both abnormalities. Foremost among them is the nature of these pathologies, where one disease (cancer) is categorized by an inability to control or inhibit cellular proliferation, and the other (male infertility) is caused by an inability to maintain the normally efficient extreme proliferation of the male germ cell. Based on this similarity alone, the study of epigenetics in both male fertility and cancer has the potential to offer intriguing insights in both fields...
January 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29307303/hormones-and-ms-risk-factors-biomarkers-and-therapeutic-targets
#11
Riley Bove, Wendy Gilmore
Sex differences in epidemiological, clinical, and pathological features of multiple sclerosis (MS) have been observed for decades, establishing a foundation for more recent progress in our understanding of their overall impact on the disease. In the ACTRIMS session on Hormones, Sex Chromosomes, and MS: Risk Factors, Biomarkers, and Therapeutic Targets, this progress was summarized in three presentations by pioneers in the field, revealing evidence that sex chromosomes, epigenetic factors, and sex hormones function as interactive determinants of disease risk and phenotype in a fashion dependent upon life stage, from prenatal development, childhood, and adolescence to adulthood and aging...
January 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29307300/epigenetic-modifications-in-brain-and-immune-cells-of-multiple-sclerosis-patients
#12
Kamilah Castro, Patrizia Casaccia
Multiple sclerosis (MS) is a debilitating neurological disease whose onset and progression are influenced by the interplay of genetic and environmental factors. Epigenetic modifications, which include post-translational modification of the histones and DNA, are considered mediators of gene-environment interactions and a growing body of evidence suggests that they play an important role in MS pathology and could be potential therapeutic targets. Since epigenetic events regulate transcription of different genes in a cell type-specific fashion, we caution on the distinct functional consequences that targeting the same epigenetic modifications might have in distinct cell types...
January 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29305749/dna-methylation-variability-in-a-single-locus-of-the-rxr%C3%AE-promoter-from-umbilical-vein-blood-at-term-pregnancy
#13
Diana Chávez-Lizárraga, Paola Zárate-Segura, Jorge Beltrán-Montoya, Carmen Canchola-Sotelo, Felipe Vadillo-Ortega, Erika Chavira-Suárez
DNA methylation status of RXRα gene promoter has been correlated with maternal diet during early pregnancy, and associated with offspring's adiposity and bone mineral content. In adult life, increased methylation of RXRα promoter region is associated with myocardium pathologies. Early growth response proteins (EGR) are zinc finger transcription factors associated with several cellular pathways such as inflammation, apoptosis, and cardiopathies. DNA-binding sequences of EGR proteins have been reported in the RXRα gene promoter using chromatin immunoprecipitation methods...
January 6, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29300383/genetic-analysis-of-charge-syndrome-identifies-overlapping-molecular-biology
#14
Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, John A Bernat, Marsha Wheeler, Jessica X Chong, Deborah Nickerson, Michael Bamshad, Margaret A Hefner, Donna M Martin, Stephanie L Bielas
PurposeCHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29289837/double-sword-role-of-ezh2-in-leukemia
#15
REVIEW
Sahar Safaei, Behzad Baradaran, Majid Farshdousti Hagh, Mohammad Reza Alivand, Mehdi Talebi, Tohid Gharibi, Saeed Solali
Enhancer of zeste homolog 2 (EZH2), the core component of the polycomb group complex, plays a major role in normal hematopoiesis. The molecular function of EZH2 is to establish H3K27me3 mark on specific genes by which promotes transcriptional repression of target genes. The activity of EZH2 affects the balance between self-renewal and differentiation of hematopoietic stem cells. In addition, EZH2 contributes to the cell cycle regulation in mature lymphocytes. A large number of studies have been performed to identify the implication of EZH2 in tumor development of leukemia...
December 28, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29285797/sodium-fluoride-disturbs-dna-methylation-of-nnat-and-declines-oocyte-quality-by-impairing-glucose-transport-in-porcine-oocytes
#16
Xiaoyan Liu, Zheng-Wen Nie, Ying-Ying Gao, Li Chen, Shu-Yuan Yin, Xia Zhang, Cuifang Hao, Yi-Liang Miao
Sodium fluoride (NaF) is used as a medicine to prevent tooth decay; however, excessive NaF could cause a pathological damage to the health. Recent studies showed that NaF impaired mouse oocyte maturation, included of abnormal spindle configuration, actin cap formation, cortical granule-free domain formation, and the following development after fertilization. However, few studies used large animals as models to study the toxicology of NaF on oocytes maturation. We proposed a hypothesis that NaF would affect the nuclear and cytoplasmic maturation of porcine oocytes and DNA methylation pattern of imprinted genes in oocytes...
December 29, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29282356/long-non-coding-rna-dleu1-predicts-poor-prognosis-of-gastric-cancer-and-contributes-to-cell-proliferation-by-epigenetically-suppressing-klf2
#17
Xiaobin Li, Zongze Li, Ziwen Liu, Jianchun Xiao, Shuting Yu, Yimin Song
Currently, accumulating documents have paid great attention to the critical role of long non-coding RNAs. The long non-coding RNAs DLEU1 has been demonstrated to be dysregulated in many solid tumors and hematological malignancies. However, the detailed descriptions about its potential roles and molecular mechanism in gastric cancer (GC) are still blurry. As for our research, it was found out that DLEU1 was observably intensified in GC tissues and cell lines. And highly expressed DLEU1 was relevant to tumor size, advanced stage of pathology and lymph node metastasis in GC patients...
December 27, 2017: Cancer Gene Therapy
https://www.readbyqxmd.com/read/29273724/worsened-outcome-in-patients-with-pancreatic-ductal-carcinoma-on-long-term-diabetes-association-with-e-cadherin1-cdh1-promoter-methylation
#18
Takeshi Saito, Hiroki Mizukami, Satoko Umetsu, Chiaki Uchida, Wataru Inaba, Makoto Abe, Kazuhisa Takahashi, Kazuhiro Kudo, Chieko Itabashi, Soroku Yagihashi, Kenichi Hakamada
Prevalence of pancreatic ductal carcinoma (PDC) is nearly twice in patients with diabetes mellitus, but the reason for this close association remains obscure. Recently promoter methylation of E-cadherin1 (CDH1) and CDKN2A genes, encoding E-cadherin and P16 respectively, are invoked in development of PDC. It is still unclear whether diabetes affects such epigenetic changes and malignant behavior in PDC. In this study, we studied whether diabetes influences the clinico-pathological profile and methylation status of CDH1 and CDKN2A genes in patients with PDC...
December 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29261496/-new-perspectives-on-preeclampsia
#19
Céline Méhats, Francisco Miralles, Daniel Vaiman
Preeclampsia is a major, frequent and potentially severe condition of pregnancy, characterized by severe hypertension and proteinuria. In this review, we describe recent advances in understanding the pathology, and discuss the long-term impacts on maternal vascular health. Next, we describe the genetic, epigenetic and immunological basis of preeclampsia. We describe the links between preeclampsia and oxidative stress in placental (trophoblast) and endothelial cells. We mention cellular and animal models commonly used to decipher modified pathophysiological pathways in a preeclamptic pregnancy compared to a normal pregnancy...
December 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29260978/dna-hypermethylation-as-a-predictor-of-extramural-vascular-invasion-emvi-in-rectal-cancer
#20
Rory F Kokelaar, Huw G Jones, Jeremy Williamson, Namor Williams, A Paul Griffiths, John Beynon, Gareth J Jenkins, Dean A Harris
Structured Abstract Purpose: DNA hypermethylation in gene promoter regions (CpG islands) is emerging as an important pathway in colorectal cancer tumourigenesis. Whilst genetic mutations have been associated with extramural vascular invasion (EMVI) in rectal cancer, no such association has yet been made with epigenetic factors. METHODS: 100 consecutive neoadjuvant-naïve patients undergoing curative surgery for rectal were classified according to the presence or absence of EMVI on histopathological examination...
December 20, 2017: Cancer Biology & Therapy
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