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Epigenetics and diagnostic

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https://www.readbyqxmd.com/read/28335509/novel-diagnostic-and-predictive-biomarkers-in-pancreatic-adenocarcinoma
#1
REVIEW
John C Chang, Madappa Kundranda
Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal disease for a multitude of reasons including very late diagnosis. This in part is due to the lack of understanding of the biological behavior of PDAC and the ineffective screening for this disease. Significant efforts have been dedicated to finding the appropriate serum and imaging biomarkers to help early detection and predict response to treatment of PDAC. Carbohydrate antigen 19-9 (CA 19-9) has been the most validated serum marker and has the highest positive predictive value as a stand-alone marker...
March 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28326191/global-histone-modification-fingerprinting-in-human-cells-using-epigenetic-reverse-phase-protein-array
#2
Marina Partolina, Hazel C Thoms, Kenneth G MacLeod, Giovanny Rodriguez-Blanco, Matthew N Clarke, Anuroop V Venkatasubramani, Rima Beesoo, Vladimir Larionov, Vidushi S Neergheen-Bhujun, Bryan Serrels, Hiroshi Kimura, Neil O Carragher, Alexander Kagansky
The balance between acetylation and deacetylation of histone proteins plays a critical role in the regulation of genomic functions. Aberrations in global levels of histone modifications are linked to carcinogenesis and are currently the focus of intense scrutiny and translational research investments to develop new therapies, which can modify complex disease pathophysiology through epigenetic control. However, despite significant progress in our understanding of the molecular mechanisms of epigenetic machinery in various genomic contexts and cell types, the links between epigenetic modifications and cellular phenotypes are far from being clear...
2017: Cell Death Discovery
https://www.readbyqxmd.com/read/28322581/epigenetics-and-allergy-from-basic-mechanisms-to-clinical-applications
#3
Daniel P Potaczek, Hani Harb, Sven Michel, Bilal Alashkar Alhamwe, Harald Renz, Jörg Tost
Allergic diseases are on the rise in the Western world and well-known allergy-protecting and -driving factors such as microbial and dietary exposure, pollution and smoking mediate their influence through alterations of the epigenetic landscape. Here, we review key facts on the involvement of epigenetic modifications in allergic diseases and summarize and critically evaluate the lessons learned from epigenome-wide association studies. We show the potential of epigenetic changes for various clinical applications: as diagnostic tools, to assess tolerance following immunotherapy or possibly predict the success of therapy at an early time point...
March 21, 2017: Epigenomics
https://www.readbyqxmd.com/read/28314271/identification-of-methylation-profiles-of-cancer-related-genes-in-circulating-tumor-cells-population
#4
Anna Lyberopoulou, Michail Galanopoulos, Gerasimos Aravantinos, George E Theodoropoulos, Evangelos Marinos, Efstathios P Efstathopoulos, Maria Gazouli
BACKGROUND: We performed an epigenetic analysis of the first exon of the hVIM gene and the SFRP2 in circulating tumor cells (CTCs) and correlation with the corresponding primary colorectal cancer (CRC) tissue. PATIENTS AND METHODS: CTCs detection in 52 colorectal cancer patients was managed by a multi-marker immunomagnetic method with the use of quantum dots (QDs). To determine methylation levels we used high-resolution melting (HRM) technology. RESULTS: In the case of VIM we found 76...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28301256/sperm-epigenetics-in-the-study-of-male-fertility-offspring-health-and-potential-clinical-applications
#5
Timothy G Jenkins, Kenneth I Aston, Emma R James, Douglas T Carrell
The mammalian sperm contains a highly unique and specialized epigenetic landscape that offers a great degree of interesting research opportunities. One key discriminating feature of the mature sperm epigenome is that it, in theory, represents both remnant marks used throughout spermatogenesis to generate sperm cells competent to perform their function, but also marks that appear to be useful beyond fertilization. Key questions must be asked about the utility of these marks and the multiple purposes that may be served...
April 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28300071/hypomethylation-of-interleukin-6-il-6-gene-increases-the-risk-of-essential-hypertension-a-matched-case-control-study
#6
S-Q Mao, J-H Sun, T-L Gu, F-B Zhu, F-Y Yin, L-N Zhang
Essential hypertension (EH) is a chronic disease with clear epigenetic component. Inflammation and endothelial dysfunction have a great role in the development of persistent blood pressure elevation. The aim of this study was to explore an association between EH and DNA methylation in pro-inflammation cytokine gene interleukin-6 (IL-6) during the inflammatory process. We performed methylation analysis of peripheral blood DNA using bisulphite pyrosequencing technology between 96 EH patients and 96 age- and gender-matched healthy controls...
March 16, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28296371/-autism-spectrum-disorder-etiological-diagnostic-and-therapeutic-aspects
#7
César Reynoso, María José Rangel, Virgilio Melgar
Autism spectrum disorder (ASD) was described for the first time in 1943 by Leo Kanner, and since 2004, 18 490 articles in the subject have been published, which in turn have been cited 48 416 times.1 Almost half of these publications come from the United States of America and the vast maority of the efforts to improve the quality of life of these patients have taken place in developed countries. This disorder consists of an inability to acquire social and emotional skills during early development that progressively results in variable degrees of social adaptation discapacity...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28293299/identification-of-epigenetic-signature-associated-with-alpha-thalassemia-mental-retardation-x-linked-syndrome
#8
Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner, Kym M Boycott, Charles Schwartz, Bekim Sadikovic
BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX. The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regulation of histone H3 and DNA methylation, while mutations in the ATRX gene may lead to the downstream epigenetic and transcriptional effects. Elucidating the underlying epigenetic mechanisms altered in ATR-X will provide a better understanding about the pathobiology of this disease, as well as provide novel diagnostic biomarkers...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28293170/an-insight-into-the-increasing-role-of-lncrnas-in-the-pathogenesis-of-gliomas
#9
REVIEW
Yuanliang Yan, Zhijie Xu, Zhi Li, Lunquan Sun, Zhicheng Gong
Long non-coding RNAs (LncRNAs) are essential epigenetic regulators with critical roles in tumor initiation and malignant progression. However, the roles and mechanisms of aberrantly expressed lncRNAs in the pathogenesis of gliomas are not fully understood. With the development of deep sequencing analyses, an extensive amount of functional non-coding RNAs has been discovered in glioma tissues and cell lines. Additionally, the contributions of several lncRNAs, such as Hox transcript antisense intergenic RNA, H19 and Colorectal neoplasia differentially expressed, previously reported to be involved in other pathogenesis and processes to the oncogenesis of glioblastoma are currently addressed...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28288716/molecular-pathogenesis-of-splenic-and-nodal-marginal-zone-lymphoma
#10
REVIEW
Valeria Spina, Davide Rossi
Genomic studies have improved our understanding of the biological basis of splenic (SMZL) and nodal (NMZL) marginal zone lymphoma by providing a comprehensive and unbiased view of the genes/pathways that are deregulated in these diseases. Consistent with the physiological involvement of NOTCH, NF-κB, B-cell receptor and toll-like receptor signaling in mature B-cells differentiation into the marginal zone B-cells, many oncogenic mutations of genes involved in these pathways have been identified in SMZL and NMZL...
March 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/28272462/cxcl12-methylation-mediated-epigenetic-regulation-of-gene-expression-in-papillary-thyroid-carcinoma
#11
Sijia Zhang, Yihan Wang, Meijun Chen, Lulu Sun, Jun Han, V Kazakova Elena, Hong Qiao
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, and its incidence rate is rapidly growing. It is necessary to understand the pathogenesis of PTC to develop effective diagnosis methods. Promoter methylation has been recognized to contribute to the alterations in gene expression observed in tumorigenesis. Our RNA-seq data identified 1191 differentially expressed mRNAs and 147 differentially expressed lncRNAs in PTC. Next, promoter methylation of these genes was detected by reduced representation bisulfite sequencing (RRBS) technology and comprehensively analyzed to identify differential methylation...
March 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28271702/update-on-endometriosis-pathogenesis
#12
Adam Czyzyk, Agnieszka Podfigurna, Anna Szeliga, Blazej Meczekalski
Endometriosis is a chronic, inflammatory, condition of high incidence and serious reproductive and general health consequences. Understanding the pathogenesis of endometriosis is crucial for proper diagnostic and ordering the most effective treatment. Even though there is a large body of data regarding this pathology our understanding of the pathogenesis of this disease remains incomplete. The aim of this review is to summarize contemporary data regarding pathogenesis of endometriosis. Current data regarding endometrial origin, metaplastic and Mullerian embryonic rests theory will be reviewed here...
March 7, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28271563/gastric-cancer-managment-kinases-as-a-target-therapy
#13
Batoul Farran, Susanne Müller, Raquel C Montenegro
The molecular diagnostics revolution has reshaped the practice of oncology by facilitating the identification of genetic, epigenetic and proteomic modifications correlated with cancer, thus delineating 'oncomaps' for various cancer types. These advances have enhanced our understanding of gastric cancer, one of the most fatal diseases worldwide, and culminated in the approval of novel molecular therapies such as trastuzumab. Gastric tumours display recurrent aberrations in key kinase oncogenes such as Her2, EGFR, PI3K, mTOR or c-Met, suggesting that these receptors are amenable to inhibition using specific drug agents...
March 7, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28270202/rheumatology-in-africa-challenges-and-opportunities
#14
EDITORIAL
Girish M Mody
Africa faces many health challenges despite sustained growth and development over the past decade. Contributory factors are the lack of financial resources, an inadequate health professional workforce, a high burden of communicable diseases, and an increasing burden of non-communicable diseases. Rheumatology services are limited or non-existent in many parts of sub-Saharan Africa. Over the past decade, partnerships with international academic institutions have resulted in some progress in the training of rheumatologists and health professionals and development of rheumatology services in countries such as Kenya, Nigeria, and Zambia...
March 7, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28259896/the-one-carbon-metabolism-pathway-highlights-therapeutic-targets-for-gastrointestinal-cancer-review
#15
Masamitsu Konno, Ayumu Asai, Koichi Kawamoto, Naohiro Nishida, Taroh Satoh, Yuichiro Doki, Masaki Mori, Hideshi Ishii
After the initial use of anti-folates for treatment of malignancies, folate metabolism has emerged as a rational diagnostic and therapeutic target in gastrointestinal cancer. The one-carbon metabolic pathway, which comprises three critical reactions (i.e., folate and methionine cycles), underlies this effect in conjunction with the trans-sulfuration pathway. Understanding of the one-carbon metabolism pathway has served to unravel the link between the causes and effects of cancer phenotypes leading to several seminal discoveries such as that of diadenosine tri-phosphate hydrolase, microRNAs, 5-FU and, more recently, trifluridine...
February 20, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28248239/personalized-proteomics-the-future-of-precision-medicine
#16
REVIEW
Trevor T Duarte, Charles T Spencer
Medical diagnostics and treatment has advanced from a one size fits all science to treatment of the patient as a unique individual. Currently, this is limited solely to genetic analysis. However, epigenetic, transcriptional, proteomic, posttranslational modifications, metabolic, and environmental factors influence a patient's response to disease and treatment. As more analytical and diagnostic techniques are incorporated into medical practice, the personalized medicine initiative transitions to precision medicine giving a holistic view of the patient's condition...
October 1, 2016: Proteomes
https://www.readbyqxmd.com/read/28240728/%C3%AF-%C3%AF-occupational-medicine-in-italian-academy-what-future
#17
Pietro Apostoli
The entire Italian University system, including the whole field of medical teaching and research, is currently passing through a period of cumbersome changes due to the many difficulties encountered in its reform process. Academic occupational medicine is deeply involved in this process that resembles a real crisis. Given this background, this contribution - written as President of the Italian College of Occupational Medicine Full Professors - has the main objective to open a debate about the current generalized crisis of our Academic Discipline and about its possible future developments...
February 15, 2017: La Medicina del Lavoro
https://www.readbyqxmd.com/read/28238060/novel-biotechnology-approaches-in-colorectal-cancer-diagnosis-and-therapy
#18
REVIEW
Soudabeh Kavousipour, Fathemeh Khademi, Mozhdeh Zamani, Bahareh Vakili, Pooneh Mokarram
With ever-increasing molecular information about colorectal cancer (CRC), there is an expectation to detect more sensitive and specific molecular markers for new advanced diagnostic methods that can surpass the limitations of current screening tests. Moreover, enhanced molecular pathology knowledge about cancer has led to the development of targeted therapies, designed to interfere with specific aberrant biological pathways in cancer. Furthermore, biotechnology has opened a new window in CRC diagnosis and treatment by introducing different application of antibodies, antibody fragments, non-Ig scaffold proteins, and aptamers in targeted therapy and drug delivery...
February 25, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28237397/sox17-regulates-cholangiocyte-differentiation-and-acts-as-a-tumor-suppressor-in-cholangiocarcinoma
#19
M Merino-Azpitarte, E Lozano, M J Perugorria, A Esparza-Baquer, O Erice, A Santos-Laso, C J O'Rourke, J B Andersen, R Jiménez-Agüero, A Lacasta, M D'Amato, O Briz, N Jalan-Sakrikar, R C Huebert, K M Thelen, S A Gradilone, A M Aransay, J L Lavín, M G Fernández-Barrena, A Matheu, M Marzioni, G J Gores, L Bujanda, J J G Marin, J M Banales
BACKGROUND & AIMS: Cholangiocarcinoma (CCA) is a biliary malignancy linked to genetic and epigenetic abnormalities, such as hypermethylation of SOX17 promoter. Here, the role of SOX17 in cholangiocyte differentiation and cholangiocarcinogenesis was studied. METHODS: SOX17 expression/function was evaluated along the differentiation of human induced pluripotent stem cells (iPSC) into cholangiocytes, in the dedifferentiation process of normal human cholangiocytes (NHC) in culture and in cholangiocarcinogenesis...
February 22, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28231576/molecular-markers-involved-in-tumorigenesis-of-thyroid-carcinoma-focus-on-aggressive-histotypes
#20
Gustavo C Penna, Fernanda Vaisman, Mario Vaisman, Manuel Sobrinho-Simões, Paula Soares
Thyroid cancer derived from follicular cells (TCDFC) comprises well-differentiated (papillary and follicular) carcinoma, poorly differentiated carcinoma, and anaplastic carcinoma. Papillary thyroid carcinoma is the most common endocrine cancer, and its incidence is steadily increasing. Lethality and aggressiveness of TCDFC is inversely correlated with differentiation degree. In this review, an emphasis has been put on molecular markers involved in tumorigenesis of thyroid carcinoma with a focus on aggressive histotypes and the role of such biomarkers in predicting thyroid cancer outcome...
February 24, 2017: Cytogenetic and Genome Research
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