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Epigenetics and diagnostic

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https://www.readbyqxmd.com/read/28526930/micrornas-in-parkinson-s-disease
#1
REVIEW
Abhishek Singh, Dwaipayan Sen
Parkinson's disease is the second most common neurodegenerative disease commonly affecting the older population. Loss of dopaminergic neurons in the substantia nigra of brain leads to impairment of motor activities as well as cognitive defects. There are many underlying causes to this disease, both genetic and epigenetic, which are yet to be fully explored. Non-coding RNAs are significant part of our genome and are involved in various cellular processes. MicroRNAs, which are small non-coding RNAs having 20-22 nucleotides, are involved in many underlying mechanisms of pathogenesis of several neurodegenerative diseases including Parkinson's...
May 19, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28525852/absolute-quantification-of-dna-methylation-using-microfluidic-chip-based-digital-pcr
#2
Zhenhua Wu, Yanan Bai, Zule Cheng, Fangming Liu, Ping Wang, Dawei Yang, Gang Li, Qinghui Jin, Hongju Mao, Jianlong Zhao
Hypermethylation of CpG islands in the promoter region of many tumor suppressor genes downregulates their expression and in a result promotes tumorigenesis. Therefore, detection of DNA methylation status is a convenient diagnostic tool for cancer detection. Here, we reported a novel method for the integrative detection of methylation by the microfluidic chip-based digital PCR. This method relies on methylation-sensitive restriction enzyme HpaII, which cleaves the unmethylated DNA strands while keeping the methylated ones intact...
May 12, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28521434/detection-of-spg20-gene-promoter-methylated-dna-as-a-novel-epigenetic-biomarker-in-plasma-for-colorectal-cancer-diagnosis-using-the-methylight-method
#3
Nayebali Rezvani, Reza Alibakhshi, Assad Vaisi-Raygani, Homayoon Bashiri, Massoud Saidijam
Aberrant promoter methylation of genes is a common epigenetic alteration in colorectal cancer (CRC). In the present study, spastic paraplegia 20 (SPG20) promoter-methylated DNA, as a potential diagnostic biomarker, was investigated in plasma and tumor tissue samples from patients with CRC. To the best of our knowledge, the quantification of SPG20 promoter-methylated DNA in plasma samples remains unreported. SPG20 promoter methylation was investigated in 32 paired tumor and healthy adjacent tissues, 37 plasma samples from patients with CRC, and in 37 plasma samples from a healthy control group, using the MethyLight method...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28518147/survivin-a-key-player-in-cancer-progression-increases-in-obesity-and-protects-adipose-tissue-stem-cells-from-apoptosis
#4
Miriam Ejarque, Victòria Ceperuelo-Mallafré, Carolina Serena, Gisela Pachón, Yaiza Núñez-Álvarez, Margarida Terrón-Puig, Enrique Calvo, Catalina Núñez-Roa, Wilfredo Oliva-Olivera, Francisco J Tinahones, Miguel Angel Peinado, Joan Vendrell, Sonia Fernández-Veledo
Adipose tissue (AT) has a central role in obesity-related metabolic imbalance through the dysregulated production of cytokines and adipokines. In addition to its known risk for cardiovascular disease and diabetes, obesity is also a major risk for cancer. We investigated the impact of obesity for the expression of survivin, an antiapoptotic protein upregulated by adipokines and a diagnostic biomarker of tumor onset and recurrence. In a cross-sectional study of 111 subjects classified by body mass index, circulating levels of survivin and gene expression in subcutaneous AT were significantly higher in obese patients and positively correlated with leptin...
May 18, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28516431/a-comparison-of-neuroimaging-abnormalities-in-multiple-sclerosis-major-depression-and-chronic-fatigue-syndrome-myalgic-encephalomyelitis-is-there-a-common-cause
#5
REVIEW
Gerwyn Morris, Michael Berk, Basant K Puri
There is copious evidence of abnormalities in resting-state functional network connectivity states, grey and white matter pathology and impaired cerebral perfusion in patients afforded a diagnosis of multiple sclerosis, major depression or chronic fatigue syndrome (CFS) (myalgic encephalomyelitis). Systemic inflammation may well be a major element explaining such findings. Inter-patient and inter-illness variations in neuroimaging findings may arise at least in part from regional genetic, epigenetic and environmental variations in the functions of microglia and astrocytes...
May 17, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28512251/inhibition-of-the-cell-death-pathway-in-non-alcoholic-steatohepatitis-nash-related-hepatocarcinogenesis-is-associated-with-histone-h4-lysine-16-deacetylation
#6
Aline de Conti, Kostiantyn Dreval, Volodymyr Tryndyak, Orish Ebere Orisakwe, Sharon Ross, Frederick Beland, Igor P Pogribny
Hepatocellular carcinoma (HCC) is one of the most aggressive human cancers and its incidence is steadily increasing worldwide. Recent epidemiological findings have suggested that the increased incidence of HCC is associated with obesity, type 2 diabetes mellitus, and nonalcoholic steatohepatitis (NASH); however, the mechanisms and the molecular pathogenesis of NASH-related HCC are not fully understood. In order to elucidate the underlying mechanisms of the development of NASH-related HCC, we investigated the hepatic transcriptomic and histone modification profiles in Stelic Animal Model (STAM) mice, the first animal model of NASH-related HCC to resemble the disease pathogenesis in humans...
May 16, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28506769/molecular-biomarkers-for-an-early-diagnosis-effective-treatment-and-prognosis-of-colorectal-cancer-current-updates
#7
REVIEW
Amjad Mahasneh, Fawaz Al-Shaheri, Eshraq Jamal
Colorectal cancer (CRC) is the third most prevalent cancer in the world. Globally, it has been estimated that about 1.4 million new cases of colorectal cancer are diagnosed every year. CRC is a multifactorial disease that arises due to genetics as well as epigenetic alterations in a number of oncogenes, tumor suppressor genes, mismatch repair genes, as well as cell cycle regulating genes in colon mucosal cells. These molecular alterations have been considered as potential CRC biomarkers because they can provide the physicians with diagnostic, prognostic and treatment response information...
May 12, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28503213/epigenetic-modifications-of-the-immune-checkpoint-genes-ctla4-and-pdcd1-in-non-small-cell-lung-cancer-results-in-increased-expression
#8
Sebastian Marwitz, Swetlana Scheufele, Sven Perner, Martin Reck, Ole Ammerpohl, Torsten Goldmann
Targeting checkpoint inhibitors using monoclonal antibodies results in significantly better outcome of cancer patients compared to conventional chemotherapy. However, the current companion diagnostics to predict response is so far suboptimal, since they base on more or less reliable immunohistochemical approaches. In order to overcome these limitations, we analyzed epigenetic modifications of PDCD1 (PD1), CD274 (PD-L1), and CTLA4 in NSCLC tissues from 39 patients. Results were correlated with transcriptome data...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28502558/identification-of-candidate-biomarkers-that-involved-in-the-epigenetic-transcriptional-regulation-for-detection-gastric-cancer-by-itraq-based-quantitative-proteomic-analysis
#9
Zhen Jiang, Xingwang Sun, Qiong Zhang, Xingli Ji, Qin Yu, Ting Huang, Daogang Chen, Hui Chen, Xiaohan Mei, Linyu Wang, Linyan He, Junhua Fang, Li Hou, Li Wang
BACKGROUND: The sensitivities and specificities of biomarkers for gastric cancer are insufficient for clinical detection, and new diagnostics are therefore urgently required. METHODS: A discovery set of gastric cancer tissues was labeled with iTRAQ reagents, separated using SCX chromatography, and identified using LC-ESI-MS/MS. A validation set of gastric cancer tissues was used to confirm the expression levels of potential markers. RESULTS: The present study detected metastasis-associated protein 2 (MTA2) and Histone deacetylases 1 (HDAC1) proteins that were overexpressed in gastric cancer tissues compared with that in adjacent gastric tissue...
May 11, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28501850/the-epigenetic-integrator-uhrf1-on-the-road-to-become-a-universal-biomarker-for-cancer
#10
REVIEW
Waseem Ashraf, Abdulkhaleg Ibrahim, Mahmoud Alhosin, Liliyana Zaayter, Khalid Ouararhni, Christophe Papin, Tanveer Ahmad, Ali Hamiche, Yves Mély, Christian Bronner, Marc Mousli
Cancer is one of the deadliest diseases in the world causing record number of mortalities in both developed and undeveloped countries. Despite a lot of advances and breakthroughs in the field of oncology still, it is very hard to diagnose and treat the cancers at early stages. Here in this review we analyze the potential of Ubiquitin-like containing PHD and Ring Finger domain 1 (UHRF1) as a universal biomarker for cancers. UHRF1 is an important epigenetic regulator maintaining DNA methylation and histone code in the cell...
April 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28487545/mechanisms-of-hepatic-stellate-cell-activation
#11
REVIEW
Takuma Tsuchida, Scott L Friedman
Hepatic fibrosis is a dynamic process characterized by the net accumulation of extracellular matrix resulting from chronic liver injury of any aetiology, including viral infection, alcoholic liver disease and NASH. Activation of hepatic stellate cells (HSCs) - transdifferentiation of quiescent, vitamin-A-storing cells into proliferative, fibrogenic myofibroblasts - is now well established as a central driver of fibrosis in experimental and human liver injury. Yet, the continued discovery of novel pathways and mediators, including autophagy, endoplasmic reticulum stress, oxidative stress, retinol and cholesterol metabolism, epigenetics and receptor-mediated signals, reveals the complexity of HSC activation...
May 10, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28484264/the-role-of-lnk-sh2b3-genetic-alterations-in-myeloproliferative-neoplasms-and-other-hematological-disorders
#12
REVIEW
N Maslah, B Cassinat, E Verger, J-J Kiladjian, L Velazquez
Malignant hematological diseases are mainly due to the occurrence of molecular abnormalities leading to the deregulation of signaling pathways essential for precise cell behavior. High resolution genome analysis using microarray and large-scale sequencing have helped identify several important acquired gene mutations that are responsible for such signaling deregulations across different hematological malignancies. In particular, the genetic landscape of classical myeloproliferative neoplasms (MPNs) has been in large part completed with the identification of driver mutations (targeting the cytokine receptor/JAK2 pathway) that determine MPN phenotype, as well as additional mutations mainly affecting the regulation of gene expression (epigenetics or splicing regulators) and signaling...
May 9, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28483662/the-management-of-polyps-in-female-reproductive-organs
#13
REVIEW
Vasilios Tanos, Kelsey Elizabeth Berry, Jaana Seikkula, Elissa Abi Raad, Andreas Stavroulis, Zaki Sleiman, Rudi Campo, Stephan Gordts
Polyps of the lower reproductive tract are found in 7.8-50% of women. It has been hypothesized that cytogenetic modifications on chromosomes 6, 7 and 12 as well as epigenetic factors involving enzyme and metabolic activities may cause polyps to develop. Cervical polyps found in 2-5% of cases are of low clinical significance and can cause, although rarely, post coital bleedings. Cervical polyps grow during pregnancy and mucorrhoea. Trans vaginal ultrasound (TVU) provides an excellent diagnostic technique to diagnose the size and the anatomic location of endometrial polyps (EPs)...
May 5, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28481734/hlj1-dnajb4-gene-is-a-novel-biomarker-candidate-in-breast-cancer
#14
Tolga Acun, Natalie Doberstein, Jens K Habermann, Timo Gemoll, Christoph Thorns, Emin Oztas, Thomas Ried
Breast cancer is the most common cancer type and cause of cancer-related mortality among women worldwide. New biomarker discovery is crucial for diagnostic innovation and personalized medicine in breast cancer. Heat shock proteins (HSPs) have been increasingly reported as biomarkers and potential drug targets for cancers. HLJ1 (DNAJB4) belongs to the DNAJ (HSP40) family of HSPs and is regarded as a tumor suppressor gene in lung, colon, and gastric cancers. However, the role of the HLJ1 gene in breast cancer is currently unknown...
May 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28475857/mutations-in-epigenetic-regulation-genes-are-a-major-cause-of-overgrowth-with-intellectual-disability
#15
Katrina Tatton-Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Anna Zachariou, Anna Elliott, Harriet Wylie, Anna Ardissone, Olaf Rittinger, Fiona Stewart, I Karen Temple, Trevor Cole, Shazia Mahamdallie, Sheila Seal, Elise Ruark, Nazneen Rahman
To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result in a product that is less effective in neutralizing negatively charged linker DNA because it has a reduced net charge, and in DNA binding and protein-protein interactions because key residues are truncated...
May 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28472608/epigenetic-regulation-of-voltage-gated-potassium-ion-channel-molecule-kv1-3-in-mechanisms-of-colorectal-cancer
#16
Tao He, Can Wang, Meiying Zhang, Xiaomei Zhang, Shufang Zheng, Enqiang Linghu, Mingzhou Guo
Colorectal cancer (CRC) is among the leading causes of cancer-related death throughout the world. Aberrant expression of voltage-gated potassium ion channel molecule Kv1.3 has been reported in various cancers. To explore the expression and regulation of Kv1.3 in colorectal cancer, 7 colorectal cancer cell lines and 147 cases of primary colorectal cancer were involved in this study. Kv1.3 was expressed in LOVO and SW480 cells and loss of expression was found in RKO, DLD1, SW620, HCT116, and HT29 cells. Complete methylation was found in RKO, DLD1, SW620, HCT116, and HT29 cells, partial methylation was found in LOVO and SW480 cells...
March 2017: Discovery Medicine
https://www.readbyqxmd.com/read/28470479/epigenetic-variability-in-systemic-lupus-erythematosus-what-we-learned-from-genome-wide-dna-methylation-studies
#17
REVIEW
Maria Teruel, Amr H Sawalha
PURPOSE OF REVIEW: DNA methylation has emerged as an important contributing factor in the pathogenesis of systemic lupus erythematosus (SLE). Here, we describe the DNA methylation patterns identified in SLE and how these epigenetic changes can influence disease susceptibility, clinical heterogeneity, and disease flares. RECENT FINDINGS: Several genome-wide DNA methylation studies have been recently completed in SLE. Important observations include robust demethylation of interferon-regulated genes, which is consistent across all cell types studied to date, and is independent of disease activity...
June 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28468581/a-new-insight-on-reciprocal-relationship-between-microrna-expression-and-epigenetic-modifications-in-human-lung-cancer
#18
Roghayeh Sheervalilou, Sakine Shirvaliloo, Sedigheh Fekri Aval, Amir Mahdi Khamaneh, Akbar Sharifi, Khalil Ansarin, Nosratollah Zarghami
Lung cancer stands among the leading causes of cancer-related death in the world. Although the molecular network implicated in lung cancer development is extensively revealed, the mortality rate is only slightly improved. MicroRNAs are small, endogenous single-stranded evolutionary conserved non-coding RNAs which involve in a wide variety of biological processes including cell growth, proliferation, metabolism, and differentiation. MicroRNAs, as novel biomarkers, have multiple functions in normal lung tissue development, and aberrant expression profiles of certain microRNAs could induce lung tumorigenesis...
May 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28465351/an-hnf4%C3%AE-microrna-194-192-signaling-axis-maintains-hepatic-cell-function
#19
Aoi Morimoto, Mana Kannari, Yuichi Tsuchida, Shota Sasaki, Chinatsu Saito, Tsuyoshi Matsuta, Tsukasa Maeda, Megumi Akiyama, Takahiro Nakamura, Masakiyo Sakaguchi, Nobukazu Nameki, Frank J Gonzalez, Yusuke Inoue
HNF4α controls the expression of liver-specific protein-coding genes. However, some microRNAs (miRNAs) are also modulated by HNF4α, and it is not known whether they are direct targets of HNF4α, and whether they influence the hepatic function. In this study, we found that HNF4α regulates miRNAs, indicated by marked down-regulation of miR-194 and miR-192 (miR-194/192) in liver-specific Hnf4a-null (Hnf4a(ΔH)) mice. Transactivation of the shared miR-194/192 promoter was dependent on HNF4α expression, indicating that miR194/192 is a target gene of HNF4α...
May 2, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28463237/epigenetic-and-transgenerational-mechanisms-in-infection-mediated-neurodevelopmental-disorders
#20
REVIEW
U Weber-Stadlbauer
Prenatal infection is an environmental risk factor for various brain disorders with neurodevelopmental components, including autism spectrum disorder and schizophrenia. Modeling this association in animals shows that maternal immune activation negatively affects fetal brain development and leads to the emergence of behavioral disturbances later in life. Recent discoveries in these preclinical models suggest that epigenetic modifications may be a critical molecular mechanism by which prenatal immune activation can mediate changes in brain development and functions, even across generations...
May 2, 2017: Translational Psychiatry
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