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Epigenetics and diagnostic

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https://www.readbyqxmd.com/read/28735477/molecular-malfeasance-mediating-myeloid-malignancies-the-genetics-of-acute-myeloid-leukemia
#1
Rebecca L King, Adam Bagg
A remarkable number of different, but recurrent, structural cytogenetic abnormalities have been observed in AML, and the 2016 WHO AML classification system incorporates numerous distinct entities associated with translocations or inversions, as well as others associated with single gene mutations into a category entitled "AML with recurrent genetic abnormalities." The AML classification is heavily reliant on cytogenetic and molecular information based on conventional genetic techniques (including karyotype, fluorescence in situ hybridization, reverse transcriptase polymerase chain reaction, single gene sequencing), but large-scale next generation sequencing is now identifying novel mutations...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28727756/dysregulation-of-micrornas-and-renin-angiotensin-system-in-high-salt-diet-induced-cardiac-dysfunction-in-uninephrectomized-rats
#2
Venkateswara Rao Amara, Sunil Kumar Surapaneni, Kulbhushan Tikoo
Uninephrectomy is not associated with major adverse events in cardiovascular and renal functions of live kidney donors. The effect of high salt diet on the quality of life of live kidney donors is largely unknown. Hence in this study, we aimed to determine the effect of high salt diet on the alterations of renin-angiotensin system and microRNAs leading to CV and renal dysfunction in uninephrectomized rats. In order to mimic clinical scenario, uninephrectomized male Sprague Dawley rats were fed initially with normal pellet diet for 12 weeks and then for 20 weeks with high salt (10% w/w NaCl) diet...
2017: PloS One
https://www.readbyqxmd.com/read/28725280/single-molecule-quantification-of-5-hydroxymethylcytosine-for-diagnosis-of-blood-and-colon-cancers
#3
Noa Gilat, Tzlil Tabachnik, Amit Shwartz, Tamar Shahal, Dmitry Torchinsky, Yael Michaeli, Gil Nifker, Shahar Zirkin, Yuval Ebenstein
BACKGROUND: The DNA modification 5-hydroxymethylcytosine (5hmC) is now referred to as the sixth base of DNA with evidence of tissue-specific patterns and correlation with gene regulation and expression. This epigenetic mark was recently reported as a potential biomarker for multiple types of cancer, but its application in the clinic is limited by the utility of recent 5hmC quantification assays. We use a recently developed, ultra-sensitive, fluorescence-based single-molecule method for global quantification of 5hmC in genomic DNA...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28721829/ngs-technologies-as-a-turning-point-in-rare-disease-research-diagnosis-and-treatment
#4
Ana Fernández-Marmiesse, Sofía Gouveia, María L Couce
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian population have a rare disease. Rare diseases are thus a common problem for clinicians and account for enormous healthcare costs worldwide due to the difficulty of establishing a specific diagnosis. In this article we review the milestones achieved in our understanding of rare diseases since the emergence of next-generation sequencing (NGS) technologies and analyze how these advances have influenced research and diagnosis...
July 18, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28718376/riz1-and-histone-methylation-status-in-pituitary-adenomas
#5
Yake Xue, Ruokun Chen, Wei Du, Fengdong Yang, Xinting Wei
RIZ1 displays strong tumor-suppressive activities, which has a potential histone methyltransferase activity. The objective of the study was to evaluate the level and the methylation status of RIZ1 and analyze its association with clinicopathological features and the histone in the pituitary adenomas. We found that RIZ1-positive cases were 11/50 and H-Scores 22.75 ± 11.83 in invasive pituitary adenomas and 26/53 and 66.3 ± 21.7 in non-invasive pituitary adenomas (χ(2) = 8.182, p = 0.004). RIZ1 and C-myc showed the opposite trend in these cases...
July 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28711609/the-epigenetic-landscape-of-differentiated-thyroid-cancer
#6
REVIEW
Sylvia L Asa, Shereen Ezzat
Differentiated thyroid carcinoma of follicular cell-derivation is the most common endocrine neoplasm with a rapidly increasing incidence. The majority represent papillary carcinomas; more rarely, they are follicular carcinomas. The vast majority have indolent behavior, however a significant proportion progress to develop lymph node metastases and a smaller proportion disseminate systemically. While common and frequent genetic events have been described to underlie the development of these neoplasms, the factors contributing to differing behaviors among tumors with similar genetic alterations remain unclear...
July 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28707075/line-1-hypermethylation-in-serum-cell-free-dna-of-relapsing-remitting-multiple-sclerosis-patients
#7
Marina Dunaeva, Merel Derksen, Ger J M Pruijn
Concentrations of cell-free DNA (cfDNA) circulating in blood and its epigenetic variation, such as DNA methylation, may provide useful diagnostic or prognostic information. Long interspersed nuclear element-1 (LINE-1) constitutes approximately 20% of the human genome and its 5'UTR region is CpG rich. Due to its wide distribution, the methylation level of the 5'UTR of LINE-1 can serve as a surrogate marker of global genomic DNA methylation. The aim of the current study was to investigate whether the methylation status of LINE-1 elements in serum cell-free DNA differs between relapsing remitting multiple sclerosis (RRMS) patients and healthy control subjects (CTR)...
July 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28706507/epigenetics-and-autoimmune-thyroid-diseases
#8
REVIEW
Fabio Coppedè
Increasing evidence suggests that epigenetic modifications, including changes in DNA methylation, covalent modifications of histone tails, and gene silencing mediated by non-coding RNA molecules, play a substantial role in the pathogenesis of autoimmune disorders and might be seen as the result of environmental insults that trigger these conditions. Studies in cells and tissues of patients with autoimmune thyroid diseases (AITD), and particularly in Graves' disease (GD) and Hashimoto's thyroiditis (HT), are increasingly revealing altered epigenetic marks and resultant deregulation of gene expression levels, but the available data are still limited to be translated into the clinical settings...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28705729/nanomedicine-and-epigenome-possible-health-risks
#9
Bozena Smolkova, Maria Dusinska, Alena Gabelova
Nanomedicine is an emerging field that combines knowledge of nanotechnology and material science with pharmaceutical and biomedical sciences, aiming to develop nanodrugs with increased efficacy and safety. Compared to conventional therapeutics, nanodrugs manifest higher stability and circulation time, reduced toxicity and improved targeted delivery. Despite the obvious benefit, the accumulation of imaging agents and nanocarriers in the body following their therapeutic or diagnostic application generates concerns about their safety for human health...
July 10, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28701587/prostate-cancer-diagnosis-using-epigenetic-biomarkers-3d-high-content-imaging-and-probabilistic-cell-by-cell-classifiers
#10
Darko Stefanovski, George Tang, Kolja Wawrowsky, Raymond C Boston, Nils Lambrecht, Jian Tajbakhsh
BACKGROUND: Prostate cancer (PCa) management can benefit from novel concepts/biomarkers for reducing the current 20-30% chance of false-negative diagnosis with standard histopathology of biopsied tissue. METHOD: We explored the potential of selected epigenetic markers in combination with validated histopathological markers, 3D high-content imaging, cell-by-cell analysis, and probabilistic classification in generating novel detailed maps of biomarker heterogeneity in patient tissues, and PCa diagnosis...
July 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28697001/the-genetics-of-hodgkin-lymphoma-an-overview-and-clinical-implications
#11
Sven Borchmann, Andreas Engert
PURPOSE OF REVIEW: The goal of this review is to give an overview of the genetics of classical Hodgkin lymphoma. Copy number changes, somatic mutations, genome-wide association studies, changes in gene expression, familial classical Hodgkin lymphoma and epigenetic changes will be reviewed. In doing so, special focus is placed on the way recent discoveries have influenced clinical research, diagnostics, treatment and remission monitoring. Furthermore, emphasis is put on how these advances can help to advance the treatment of elderly patients who have a markedly worse prognosis than younger patients...
July 10, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28694114/epigenetic-dysregulation-of-protocadherins-in-human-disease
#12
REVIEW
Nady El Hajj, Marcus Dittrich, Thomas Haaf
Protocadherins (Pcdhs) are a group of cell-cell adhesion molecules that are highly expressed in the nervous system and have a major function in dendrite development and neural circuit formation. However, the role protocadherins play in human health and disease remains unclear. Several recent studies have associated epigenetic dysregulation of protocadherins with possible implications for disease pathogenesis. In this review, we briefly recap the various epigenetic mechanisms regulating protocadherin genes, particularly the clustered Pcdhs...
July 7, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28693952/pathogenesis-of-adenomyosis-an-update-on-molecular-mechanisms
#13
REVIEW
Silvia Vannuccini, Claudia Tosti, Francisco Carmona, S Joseph Huang, Charles Chapron, Sun-Wei Guo, Felice Petraglia
Adenomyosis is a uterine disorder becoming more commonly diagnosed in women of reproductive age because of diagnostic imaging advancements. The new epidemiological scenario and the clinical evidence of pelvic pain, abnormal uterine bleeding and infertility are changing the classic perspective of adenomyosis as a premenopausal disease. In the last decade, the evaluation of multiple molecular mediators has improved our knowledge of pathogenic mechanisms of adenomyosis, supporting that this is an independent disease from endometriosis...
June 27, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28693800/review-of-sequencing-platforms-and-their-applications-in-phaeochromocytoma-and-paragangliomas
#14
REVIEW
Suja Pillai, Vinod Gopalan, Alfred King-Yin Lam
Genetic testing is recommended for patients with phaeochromocytoma (PCC) and paraganglioma (PGL) because of their genetic heterogeneity and heritability. Due to the large number of susceptibility genes associated with PCC/PGL, next-generation sequencing (NGS) technology is ideally suited for carrying out genetic screening of these individuals. New generations of DNA sequencing technologies facilitate the development of comprehensive genetic testing in PCC/PGL at a lower cost. Whole-exome sequencing and targeted NGS are the preferred methods for screening of PCC/PGL, both having precise mutation detection methods and low costs...
August 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28693197/recent-developments-in-predictive-biomarkers-of-pediatric-glioma
#15
Zhengwei Li, Yiyu Yin, Fengli Liu
The presence of certain cancer-related genetic and epigenetic alterations in the tumor affects patient response to specific cancer therapies. The accurate screening of these predictive biomarkers in molecular diagnostics is important since it enables the tailoring of optimal treatment based on molecular characteristics of the tumor. We searched the electronic database PubMed for preclinical as well as clinical controlled trials reporting on various multiple predictors of glioma. It was observed clearly that multiple approaches are evolving and a few of them have also shown promising results...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28684328/genetics-of-gynaecological-disorders
#16
REVIEW
Dragana J Josifova
From genomic imbalances associated with developmental abnormalities of the female genital tract to the molecular mechanisms underpinning endometriosis and uterine leiomyomatosis, new technologies have allowed the exploration of the genetic contribution and mapping the molecular pathways underpinning common and rare gynaecological conditions. While some of these conditions have historically been considered sporadic, recent research has demonstrated their potentially heritable nature linked to single genes or copy number variants...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28682231/g%C3%A3-n%C3%A3-tique-et-%C3%A3-pig%C3%A3-n%C3%A3-tique-des-troubles-des-conduites-alimentaires
#17
Nicolas Ramoz, Julia Clarke, Philip Gorwood
Eating disorders (EDs) are complex and multifactorial psychiatric illnesses that induce significant and sustained pathological disruption of food intake. The Diagnostic and Statistical Manual of Mental Illnesses (DSM-5) describes the clinical criteria of major disorders including anorexia nervosa (AN), bulimia nervosa (BN) and binge eating disorder (BED). The neurobiological basis of food intake is well characterized. Epidemiological studies reported a heritability about 70% in AN and 60% in BN, suggesting that genetic factors are involved in the vulnerability to EDs...
2017: Biologie Aujourd'hui
https://www.readbyqxmd.com/read/28680536/tet1-mediated-dna-hypomethylation-regulates-the-expression-of-muc4-in-lung-cancer
#18
Seiya Yokoyama, Michiyo Higashi, Hideaki Tsutsumida, Jouji Wakimoto, Tomofumi Hamada, Edwin Wiest, Kei Matsuo, Ikumi Kitazono, Yuko Goto, Xin Guo, Taiji Hamada, Sohsuke Yamada, Tsubasa Hiraki, Suguru Yonezawa, Surinder K Batra, Michael A Hollingsworth, Akihide Tanimoto
Lung cancer remains a disease of high mortality, despite advanced diagnostic techniques. Mucins (MUC) play crucial roles in carcinogenesis and tumor invasion in lung neoplasms. Our immunohistochemistry (IHC) studies have shown that high MUC4 expression correlates with a poor outcome. We have also shown that the expression of several mucin genes in cancer cell lines is regulated by DNA methylation. We evaluated the expression level of MUC4, mRNA and several DNA hypomethylation factors in lung tissue samples from 33 patients with various lung lesions...
March 2017: Genes & Cancer
https://www.readbyqxmd.com/read/28675165/precision-medicine-based-on-epigenomics-the-paradigm-of-carcinoma-of-unknown-primary
#19
REVIEW
Sebastián Moran, Anna Martinez-Cardús, Stergios Boussios, Manel Esteller
Epigenetic alterations are a common hallmark of human cancer. Single epigenetic markers are starting to be incorporated into clinical practice; however, the translational use of these biomarkers has not been validated at the 'omics' level. The identification of the tissue of origin in patients with cancer of unknown primary (CUP) is an example of how epigenomics can be incorporated in clinical settings, addressing an unmet need in the diagnostic and clinical management of these patients. Despite the great diagnostic advances made in the past decade, the use of traditional diagnostic procedures only enables the tissue of origin to be determined in ∼30% of patients with CUP...
July 4, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/28672878/epigenetic-regulation-of-the-biosynthesis-enzymatic-modification-of-heparan-sulfate-proteoglycans-implications-for-tumorigenesis-and-cancer-biomarkers
#20
REVIEW
Elizabeth E Hull, McKale R Montgomery, Kathryn J Leyva
Emerging evidence suggests that the enzymes in the biosynthetic pathway for the synthesis of heparan sulfate moieties of heparan sulfate proteoglycans (HSPGs) are epigenetically regulated at many levels. As the exact composition of the heparan sulfate portion of the resulting HSPG molecules is critical to the broad spectrum of biological processes involved in oncogenesis, the epigenetic regulation of heparan sulfate biosynthesis has far-reaching effects on many cellular activities related to cancer progression...
June 26, 2017: International Journal of Molecular Sciences
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