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Epigenetics and diagnostic

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https://www.readbyqxmd.com/read/29144820/pheochromocytoma-a-genetic-and-diagnostic-update
#1
Leilani B Mercado-Asis, Katherine I Wolf, Ivana Jochmanova, David Taïeb
OBJECTIVE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors derived from adrenal or extra-adrenal locations, respectively. Upon suspicion of PPGL, specific metabolomic, molecular, biochemical, imaging, and histopathological studies are performed to prove, localize, treat, and monitor disease progression. Recently, improved diagnostic tools allow physicians to accurately diagnose PPGL, even in patients presenting with small (less than 1 cm) or biochemically silent tumors, which previously delayed proper detection and treatment...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29127806/blood-dna-methylation-as-a-potential-biomarker-of-dementia-a-systematic-review
#2
REVIEW
Peter D Fransquet, Paul Lacaze, Richard Saffery, John McNeil, Robyn Woods, Joanne Ryan
Dementia is a major public health issue with rising prevalence rates, but many individuals remain undiagnosed. Accurate and timely diagnosis is key for the optimal targeting of interventions. A noninvasive, easily measurable peripheral biomarker would have greatest utility in population-wide diagnostic screening. Epigenetics, including DNA methylation, is implicated in dementia; however, it is unclear whether epigenetic changes can be detected in peripheral tissue. This study aimed to systematically review the evidence for an association between dementia and peripheral DNA methylation...
November 8, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29125240/tumor-associated-dna-mutation-detection-in-individuals-undergoing-colonoscopy
#3
Phillip Fleshner, Glenn D Braunstein, Gayane Ovsepyan, Theresa R Tonozzi, Anja Kammesheidt
The majority of colorectal cancers (CRC) harbor somatic mutations and epigenetic modifications in the tumor tissue, and some of these mutations can be detected in plasma as circulating tumor DNA (ctDNA). Precancerous colorectal lesions also contain many of these same mutations. This study examined plasma for ctDNA from patients undergoing a screening or diagnostic colonoscopy to determine the sensitivity and specificity of the ctDNA panel for detecting CRC and precancerous lesions. Two hundred patients without a history of nonskin cancer had blood drawn before a colonoscopy...
November 10, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/29122391/genetics-and-epigenetics-of-nafld-and-nash-clinical-impact
#4
REVIEW
Mohammed Eslam, Luca Valenti, Stefano Romeo
Non-alcoholic fatty liver disease (NAFLD) is now recognised as the most common liver disease worldwide. It encompasses a broad spectrum of conditions, from simple steatosis, through non-alcoholic steatohepatitis, to fibrosis and ultimately cirrhosis and hepatocellular carcinoma. A hallmark of NAFLD is the substantial inter-patient variation in disease progression. NAFLD is considered a complex disease trait such that interactions between the environment and a susceptible polygenic host background determine disease phenotype and influence progression...
November 2, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/29119010/epigenetic-impact-of-endocrine-disrupting-chemicals-on-lipid-homeostasis-and-atherosclerosis-a-pregnane-x-receptor-centric-view
#5
Robert N Helsley, Changcheng Zhou
Despite the major advances in developing diagnostic techniques and effective treatments, atherosclerotic cardiovascular disease (CVD) is still the leading cause of mortality and morbidity worldwide. While considerable progress has been achieved to identify gene variations and environmental factors that contribute to CVD, much less is known about the role of "gene-environment interactions" in predisposing individuals to CVD. Our chemical environment has significantly changed in the last few decades, and there are more than 100,000 synthetic chemicals in the market...
October 1, 2017: Environmental Epigenetics
https://www.readbyqxmd.com/read/29115895/droplet-based-digital-pcr-and-next-generation-sequencing-for-monitoring-circulating-tumor-dna-a-cancer-diagnostic-perspective
#6
Mathilde Postel, Alice Roosen, Pierre Laurent-Puig, Valerie Taly, Shu-Fang Wang-Renault
Early detection of cancers through the analysis of ctDNA could have a significant impact on morbidity and mortality of cancer patients. However, using ctDNA for early cancer diagnosis is challenging partly due to the low amount of tumor DNA released in the circulation and its dilution within DNA originating from non-tumor cells. Development of new technologies such as droplet-based digital PCR (ddPCR) or optimized next generation sequencing (NGS) has greatly improved the sensitivity, specificity and precision for the detection of rare sequences...
November 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29106556/location-matters-distinct-dna-methylation-patterns-in-gabaergic-interneuronal-populations-from-separate-microcircuits-within-the-human-hippocampus
#7
W Brad Ruzicka, Sivan Subburaju, Joseph T Coyle, Francine M Benes
Recent studies describe distinct DNA methylomes among phenotypic subclasses of neurons in the human brain, but variation in DNA methylation between common neuronal phenotypes distinguished by their function within distinct neural circuits remains an unexplored concept. Studies able to resolve epigenetic profiles at the level of microcircuits are needed to illuminate chromatin dynamics in the regulation of specific neuronal populations and circuits mediating normal and abnormal behaviors.The Illumina HumanMethylation450 BeadChip was used to assess genome-wide DNA methylation in stratum oriens GABAergic interneurons sampled by laser-microdissection from two discrete microcircuits along the trisynaptic pathway in postmortem human hippocampus from eight control, eight schizophrenia, and eight bipolar disorder subjects...
November 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29079546/congenital-disorders-of-glycosylation-cdg-quo-vadis
#8
REVIEW
Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J Lefeber, Eva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG...
October 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29077558/-the-genetics-of-obesity-pathogenetic-clinical-and-diagnostic-aspects
#9
Artur Barczyk, Anna Kutkowska-Kaźmierczak, Jennifer Castañeda, Ewa Obersztyn
Due to its prevalence and its health-related, economic and social consequences, childhood and adult obesity is a complex, medical and civilizational problem, which has been on the increase in the last decade. The results of multi-center investigations reveal that genetic factors play an essential role in the etiopathogenesis of obesity, particularly in the case of extreme cases with very early onset. The Body Mass Index (BMI) is one of the most frequently used indicators of obesity and shows a strong genetic component with a 40-70% degree of heritability...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/29066912/identification-of-key-pathways-and-genes-with-aberrant-methylation-in-prostate-cancer-using-bioinformatics-analysis
#10
Anshika N Singh, Neeti Sharma
Prostate cancer (PCa), a multifocal clinically heterogeneous disease, is the most commonly diagnosed non-cutaneous neoplasm in men worldwide. The epigenome of PCa is a typical representation of catastrophic model of epigenetic alterations during tumorigenesis and its progression. Alterations in methylation patterns in tumor suppressors, cell cycle, oncogenes and metabolism-related genes are the most commonly observed epigenetic alterations in PCa. In this study, we have developed a computational strategy to identify methylated biomarker signature panels as potential targets of PCa by screening >160 genes reported to be epigenetically dysregulated, and shortlisted 26 differentially methylated genes (DMGs) that significantly contribute to oncogenesis...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29064817/-modern-perspective-on-the-development-conditions-and-diagnosis-of-systemic-sclerosis
#11
Ewa Wielosz
Systemic sclerosis (SSc) is a multisystem disorder of the connective tissue characterized by a great deal of heterogeneity. This variability is a result of a combination of vascular damage inflammation and fibrosis leading to internal organ complications. The pathogenesis of disorder is still unknown. A large part is given to genetic, epigenetic and environmental factors. There is ongoing research into the new cells and mediators involved in the complicated development of disease. The overlap of vascular, autoimmune/ inflammatory alternations and fibrosis causes the multidirectional and unpredictable course of disease...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29057241/erratum-to-epigenetics-of-colorectal-cancer-emerging-circulating-diagnostic-and-prognostic-biomarkers
#12
(no author information available yet)
[This corrects the article DOI: 10.21037/atm.2017.04.45.].
September 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/29056500/emerging-role-of-non-coding-rna-in-oral-cancer
#13
REVIEW
Fatemeh Momen-Heravi, Shashi Bala
Oral squamous cell carcinoma (OSCC) is characterized by genomic and epigenomic alterations. However, the mechanisms underlying oral squamous cell carcinoma tumorigenesis and progression remain to be elucidated. Long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), and extracellular RNAs (exRNAs) are emerging groups of regulatory RNAs, which possess low or no protein-coding potential. Emerging lines of evidence indicates that deregulated expression of lncRNAs and circular RNAs are associated with the induction and progression of various cancers, including oral cancer, through epigenetic, transcriptional, and post-transcriptional alterations...
October 19, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/29050260/epigenetic-silencing-of-tmem176a-promotes-esophageal-squamous-cell-cancer-development
#14
Ying Wang, You Zhang, James G Herman, Enqiang Linghu, Mingzhou Guo
The function of human transmembrane protein 176A (TMEM176A) in cancer remains unclear. To understand the function and mechanism of TMEM176A in human esophageal cancer development, 13 esophageal cancer cell lines and 267 cases of primary esophageal squamous cell cancer (ESCC) samples were analyzed by methylation specific PCR (MSP), flow cytometry, immunohistochemistry and transfection assays. TMEM176A was highly expressed in BIC1 cells and loss of TMEM176A expression was found in TE1, TE3, TE13, KYSE140, KYSE180, KYSE410, KYSE450, KYSE520, Segl, KYSE150, YES2 and COLO680N cells...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29038785/biological-function-of-microrna193a-3p-in-health-and-disease
#15
REVIEW
Ilaria Grossi, Alessandro Salvi, Edoardo Abeni, Eleonora Marchina, Giuseppina De Petro
MicroRNAs (miRNAs) are a class of small noncoding RNAs that act mainly as negative regulators of gene expression. Several studies demonstrated that miRNAs take part in numerous biological processes, such as proliferation, apoptosis, and migration. The dysregulation of miRNAs has been frequently observed in different types of disease, including cancer. Here, we provide a comprehensive review on the human miR-193a-3p by considering its role in both physiological and pathological contexts. Different mechanisms involved in regulating miR-193a-3p expression have been reported, including epigenetic modifications and transcription factors...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/29036928/plasma-mir-155-mir-203-and-mir-205-are-biomarkers-for-monitoring-of-primary-cutaneous-t-cell-lymphomas
#16
Nina Dusílková, Petra Bašová, Jindřich Polívka, Ondřej Kodet, Vojtěch Kulvait, Michal Pešta, Marek Trněný, Tomáš Stopka
Primary cutaneous T-cell lymphomas (CTCL) affect the skin and tend to transform and spread. CTCL involves primarily the Mycosis fungoides (MF) and more aggressive Sezary syndrome (SS). Oncogenic microRNAs (miRs) are stable epigenetic inhibitors often deregulated in the tumour and detectable as biomarkers in non-cellular fractions of peripheral blood. The tumour-specific expression of miR-155, miR-203, and miR-205 was shown to correctly diagnose CTCL. We herein asked whether these microRNAs can be used as plasma biomarkers for clinical CTCL monitoring...
October 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29035356/circulating-tumour-dna-methylation-markers-for-diagnosis-and-prognosis-of-hepatocellular-carcinoma
#17
Rui-Hua Xu, Wei Wei, Michal Krawczyk, Wenqiu Wang, Huiyan Luo, Ken Flagg, Shaohua Yi, William Shi, Qingli Quan, Kang Li, Lianghong Zheng, Heng Zhang, Bennett A Caughey, Qi Zhao, Jiayi Hou, Runze Zhang, Yanxin Xu, Huimin Cai, Gen Li, Rui Hou, Zheng Zhong, Danni Lin, Xin Fu, Jie Zhu, Yaou Duan, Meixing Yu, Binwu Ying, Wengeng Zhang, Juan Wang, Edward Zhang, Charlotte Zhang, Oulan Li, Rongping Guo, Hannah Carter, Jian-Kang Zhu, Xiaoke Hao, Kang Zhang
An effective blood-based method for the diagnosis and prognosis of hepatocellular carcinoma (HCC) has not yet been developed. Circulating tumour DNA (ctDNA) carrying cancer-specific genetic and epigenetic aberrations may enable a noninvasive 'liquid biopsy' for diagnosis and monitoring of cancer. Here, we identified an HCC-specific methylation marker panel by comparing HCC tissue and normal blood leukocytes and showed that methylation profiles of HCC tumour DNA and matched plasma ctDNA are highly correlated...
October 9, 2017: Nature Materials
https://www.readbyqxmd.com/read/29034211/the-role-of-atrx-in-glioma-biology
#18
REVIEW
Pravanya Nandakumar, Alireza Mansouri, Sunit Das
The current World Health Organization classification of CNS tumors has made a tremendous leap from past editions by incorporating molecular criteria in addition to the pre-existing histological parameters. The revised version has had a particular impact on the classification of diffuse low-grade gliomas and their high-grade variants. The ATRX status is one of the critical markers that define the molecular classification of gliomas. In this review, we will first provide an overview of the role of ATRX in regular cell biology...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/29034009/a-multicenter-randomized-study-of-decitabine-as-epigenetic-priming-with-induction-chemotherapy-in-children-with-aml
#19
Lia Gore, Timothy J Triche, Jason E Farrar, Daniel Wai, Christophe Legendre, Gerald C Gooden, Winnie S Liang, John Carpten, David Lee, Frank Alvaro, Margaret E Macy, Carola Arndt, Philip Barnette, Todd Cooper, Laura Martin, Aru Narendran, Jessica Pollard, Soheil Meshinchi, Jessica Boklan, Robert J Arceci, Bodour Salhia
BACKGROUND: Decitabine is a deoxycytidine nucleoside derivative inhibitor of DNA-methyltransferases, which has been studied extensively and is approved for myelodysplastic syndrome in adults but with less focus in children. Accordingly, we conducted a phase 1 multicenter, randomized, open-label study to evaluate decitabine pre-treatment before standard induction therapy in children with newly diagnosed AML to assess safety and tolerability and explore a number of biologic endpoints. RESULTS: Twenty-four patients were fully assessable for all study objectives per protocol (10 in Arm A = epigenetic priming induction, 14 in Arm B = standard induction)...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29032046/past-present-and-future-of-genetic-research-in-borderline-personality-disorder
#20
REVIEW
Anahita Bassir Nia, Matthew C Eveleth, Jonathan M Gabbay, Yonis J Hassan, Bosi Zhang, M Mercedes Perez-Rodriguez
Borderline Personality Disorder (BPD) is a major mental illness with a lifetime prevalence of approximately 1-3%, characterized by a persistent pattern of instability in relationships, mood, impulse regulation, and sense of self. This results in impulsive self-damaging behavior, high suicide rates, and severe functional impairment. BPD has a complex, multifactorial etiology, resulting from an interaction among genetic and environmental substrates, and has moderate to high heritability based on twin and family studies...
September 12, 2017: Current Opinion in Psychology
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