Monosomy of the X chromosome is the most frequent genetic abnormality in human as it is present in approximately 2% of all conceptions, although 99% of these embryos are spontaneously miscarried. In postnatal ...
Kidney cancer and clear cell renal carcinoma (ccRCC) are the 16th most common cause of death worldwide. ccRCC is often metastasized at diagnosis, and surgery remains the main treatment; therefore, early diagno...
Authors: Elisa Cocco, Manuela Leo, Claudia Canzonetta, Serena Di Vito, Antonello Mai, Dante Rotili, Arianna Di Napoli, Andrea Vecchione, Cosimo De Nunzio, Patrizia Filetici and Antonella Stoppacciaro
To identify aberrant promoter methylation of genomic loci encoding microRNA (mgmiR) in head and neck squamous cell carcinoma (HNSCC) and to evaluate a biomarker panel of mgmiRs to improve the diagnostic accura...
Authors: Yu Cao, Katherine Green, Steve Quattlebaum, Ben Milam, Ling Lu, Dexiang Gao, Hui He, Ningning Li, Liwei Gao, Francis Hall, Matthew Whinery, Elyse Handley, Yi Ma, Tao Xu, Feng Jin, Jing Xiao…
DNMT3A gene mutation has been associated with poor prognosis in acute myeloid leukemia, but its clinical implications in myelodysplastic syndrome (MDS) and dynamic changes during disease progression remain contro...
KDM lysine demethylase family members are related to lung cancer clinical outcomes and are potential biomarkers for chemotherapeutics. However, little is known about epigenetic alterations in KDM genes and their ...
Authors: Yongyue Wei, Junya Liang, Ruyang Zhang, Yichen Guo, Sipeng Shen, Li Su, Xihong Lin, Sebastian Moran, Åslaug Helland, Maria M. Bjaanæs, Anna Karlsson, Maria Planck, Manel Esteller, Thomas Fleischer, Johan Staaf, Yang Zhao…
Prostate cancer (PCa) is a major cause of morbidity and mortality in men worldwide. MicroRNAs are globally downregulated in PCa, especially in poorly differentiated tumors. Nonetheless, the underlying mechanis...
Authors: João Ramalho-Carvalho, Céline S. Gonçalves, Inês Graça, David Bidarra, Eva Pereira-Silva, Sofia Salta, Maria Inês Godinho, Antonio Gomez, Manel Esteller, Bruno M. Costa, Rui Henrique and Carmen Jerónimo
Fibroblast growth factor receptor 2 (FGFR2) gene encodes a protein of the fibroblast growth factor receptor family. FGFR2 gene expression is associated with the regulation of implantation process of placenta whic...
Authors: Fu-Ying Tian, Xi-Meng Wang, Chuanbo Xie, Bo Zhao, Zhongzheng Niu, Lijun Fan, Marie-France Hivert and Wei-Qing Chen
Methylation measures quantified by microarray techniques can be affected by systematic variation due to the technical processing of samples, which may compromise the accuracy of the measurement process and con...
Authors: Flavie Perrier, Alexei Novoloaca, Srikant Ambatipudi, Laura Baglietto, Akram Ghantous, Vittorio Perduca, Myrto Barrdahl, Sophia Harlid, Ken K. Ong, Alexia Cardona, Silvia Polidoro, Therese Haugdahl Nøst, Kim Overvad, Hanane Omichessan, Martijn Dollé, Christina Bamia…
Early pulmonary oxygen exposure is one of the most important factors implicated in the development of bronchopulmonary dysplasia (BPD).
Authors: Cho-Ming Chao, Rhea van den Bruck, Samantha Lork, Janica Merkle, Laura Krampen, Patrick P Weil, Malik Aydin, Saverio Bellusci, Andreas C. Jenke and Jan Postberg
Biomarkers that can predict the prognosis of colorectal cancer (CRC) patients and that can stratify high-risk early stage patients from low-risk early stage patients are urgently needed for better management o...
Authors: Muriel X. G. Draht, Danny Goudkade, Alexander Koch, Heike I. Grabsch, Matty P. Weijenberg, Manon van Engeland, Veerle Melotte and Kim M. Smits
5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in one-carbon metabolism that ensures the availability of methyl groups for methylation reactions. Two single-nucleotide polymorphisms (SNPs) in...
Authors: Giulia F. Del Gobbo, E. Magda Price, Courtney W. Hanna and Wendy P. Robinson
Recently discovered drugs that target epigenetic modifying complexes are providing new treatment options for a range of cancers that affect patients of reproductive age. Although these drugs provide new therap...
Authors: Lexie Prokopuk, Kirsten Hogg and Patrick S. Western
Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease of the lungs that is currently the fourth leading cause of death worldwide. Genetic factors account for only a small amount of COPD risk,...
Authors: Rachel L. Clifford, Nick Fishbane, Jamie Patel, Julia L. MacIsaac, Lisa M. McEwen, Andrew J. Fisher, Corry-Anke Brandsma, Parameswaran Nair, Michael S. Kobor, Tillie-Louise Hackett and Alan J. Knox
Few biological markers are associated with survival after relapse of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In pediatric T-cell ALL, we have identified promoter-associated methylation alterat...
Authors: Magnus Borssén, Jessica Nordlund, Zahra Haider, Mattias Landfors, Pär Larsson, Jukka Kanerva, Kjeld Schmiegelow, Trond Flaegstad, Ólafur Gísli Jónsson, Britt-Marie Frost, Josefine Palle, Erik Forestier, Mats Heyman, Magnus Hultdin, Gudmar Lönnerholm and Sofie Degerman
DNA methylation is an important epigenetic modification, associated with gene expression. 5-Methylcytosine and 5-hydroxymethylcytosine are two epigenetic hallmarks that maintain the equilibrium of epigenetic r...
Authors: Yimin Zhu, Hanlin Lu, Dandan Zhang, Meiyan Li, Xiaohui Sun, Ledong Wan, Dan Yu, Yiping Tian, Hongchuan Jin, Aifen Lin, Fei Gao and Maode Lai
Abdominal aortic aneurysm (AAA) is a deadly cardiovascular disease characterised by the gradual, irreversible dilation of the abdominal aorta. AAA is a complex genetic disease but little is known about the rol...
Authors: Bradley J. Toghill, Athanasios Saratzis, Peter J. Freeman, Nicolas Sylvius and Matthew J. Bown
Preeclampsia (PE) is a heterogeneous, hypertensive disorder of pregnancy, with no robust biomarkers or effective treatments. We hypothesized that this heterogeneity is due to the existence of multiple subtypes...
Authors: Katherine Leavey, Samantha L. Wilson, Shannon A. Bainbridge, Wendy P. Robinson and Brian J. Cox
Hepatoblastoma (HB) is the most common liver tumor of childhood and occurs predominantly within the first 3 years of life. In accordance to its early manifestation, HB has been described to display an extremel...
Authors: Alexander Beck, Franziska Trippel, Alexandra Wagner, Saskia Joppien, Max Felle, Christian Vokuhl, Thomas Schwarzmayr, Tim M. Strom, Dietrich von Schweinitz, Gernot Längst and Roland Kappler
Nasopharyngeal carcinoma (NPC) is prevalent in South China, including Hong Kong and Southeast Asia, constantly associated with Epstein-Barr virus (EBV) infection. Epigenetic etiology attributed to EBV plays a ...
Authors: Yan Zhang, Jiangxia Fan, Yichao Fan, Lili Li, Xiaoqian He, Qin Xiang, Junhao Mu, Danfeng Zhou, Xuejuan Sun, Yucheng Yang, Guosheng Ren, Qian Tao and Tingxiu Xiang
Cerebral palsy (CP) is a clinical description for a group of motor disorders that are heterogeneous with respect to causes, symptoms and severity. A diagnosis of CP cannot usually be made at birth and in some ...
Authors: Namitha Mohandas, Sebastian Bass-Stringer, Jovana Maksimovic, Kylie Crompton, Yuk J. Loke, Janet Walstab, Susan M. Reid, David J. Amor, Dinah Reddihough and Jeffrey M. Craig
Droplet digital PCR (ddPCR) allows absolute quantification of nucleic acids and has potential for improved non-invasive detection of DNA methylation. For increased precision of the methylation analysis, we aim...
Authors: Heidi D. Pharo, Kim Andresen, Kaja C. G. Berg, Ragnhild A. Lothe, Marine Jeanmougin and Guro E. Lind
Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated region (H19/IGF2:IG-DMR) causes alteration of H19/IGF2 imprinting and Silver-Russell syndrome (SRS). Recently, internal dele...
Authors: Angela Sparago, Flavia Cerrato and Andrea Riccio
DNA methylation is a dynamic epigenetic mechanism. Researchers aiming to assess archived DNA samples are expressing concern about the effect of technical factors on methylation, as this may confound results. W...
Authors: Kira Groen, Rodney A. Lea, Vicki E. Maltby, Rodney J. Scott and Jeannette Lechner-Scott
Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Male...
Authors: Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz and Bekim Sadikovic
Integration of human immunodeficiency virus type 1 (HIV-1) into the host genome causes global disruption of the chromatin environment. The abundance level of various chromatin-modifying enzymes produces these ...
Authors: Roberta Nicoleta Bogoi, Alicia de Pablo, Eulalia Valencia, Luz Martín-Carbonero, Victoria Moreno, Helem Haydee Vilchez-Rueda, Victor Asensi, Rosa Rodriguez, Victor Toledano and Berta Rodés
Elucidation of epigenetic alterations in bladder cancer will lead to further understanding of the biology of the disease and hopefully improved therapies. Our aim was to perform an integrative epigenetic analy...
Authors: Thomas Sanford, Maxwell V. Meng, Reema Railkar, Piyush K. Agarwal and Sima P. Porten
Smoking has been reported to be associated with peripheral blood DNA methylation, but the causal aspects of the association have rarely been investigated. We aimed to investigate the association and underlying...
Authors: Shuai Li, Ee Ming Wong, Minh Bui, Tuong L. Nguyen, Ji-Hoon Eric Joo, Jennifer Stone, Gillian S. Dite, Graham G. Giles, Richard Saffery, Melissa C. Southey and John L. Hopper
Our current view of DNA methylation processes is strongly moving: First, even if it was generally admitted that DNMT3A and DNMT3B are associated with de novo methylation and DNMT1 is associated with inheritanc...
Authors: Eric Hervouet, Paul Peixoto, Régis Delage-Mourroux, Michaël Boyer-Guittaut and Pierre-François Cartron
Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine ...
Authors: Francesca Marta Elli, Paolo Bordogna, Maura Arosio, Anna Spada and Giovanna Mantovani
Genome-wide studies identified pan-cancer genes and shared biological networks affected by epigenetic dysregulation among diverse tumor entities. Here, we systematically screened for hypermethylation of DNA da...
Authors: Jolein Mijnes, Jürgen Veeck, Nadine T. Gaisa, Eduard Burghardt, Tim C. de Ruijter, Sonja Gostek, Edgar Dahl, David Pfister, Sebastian C. Schmid, Ruth Knüchel and Michael Rose
HIV-1 latency allows the virus to persist until reactivation, in a transcriptionally silent form in its cellular reservoirs despite the presence of effective cART. Such viral persistence represents a major bar...
Authors: Sheraz Khan, Mazhar Iqbal, Muhammad Tariq, Shahid M. Baig and Wasim Abbas
Genetic predisposition and epigenetic alterations are both considered to contribute to sporadic neurodegenerative diseases (NDDs) such as Parkinson’s disease (PD). Since cell reprogramming and the generation o...
Authors: Laura de Boni, Gilles Gasparoni, Carolin Haubenreich, Sascha Tierling, Ina Schmitt, Michael Peitz, Philipp Koch, Jörn Walter, Ullrich Wüllner and Oliver Brüstle
Remodeling of the sperm epigenome by lifestyle factors before conception could account for altered metabolism in the next generation offspring. Here, we hypothesized that endurance training changes the epigeno...
Authors: Lars R. Ingerslev, Ida Donkin, Odile Fabre, Soetkin Versteyhe, Mie Mechta, Pattarawan Pattamaprapanont, Brynjulf Mortensen, Nikolaj Thure Krarup and Romain Barrès
MicroRNAs (miRNA) play a relevant role in carcinogenesis, cancer progression, invasion, and metastasis. Thus, they can serve as diagnostic/prognostic biomarkers. The knowledge on circulating miRNAs for clear c...
Authors: Frauke G. Heinemann, Yuri Tolkach, Mario Deng, Doris Schmidt, Sven Perner, Glen Kristiansen, Stefan C. Müller and Jörg Ellinger
The dynamic methylation of human papillomavirus (HPV) 16 DNA is thought to be associated with the progression of cervical lesions. Previous studies that did not consider the physical status of HPV 16 may have ...
Authors: Lu Liu, Chunmei Ying, Zhen Zhao, Long Sui, Xinyan Zhang, Chunyan Qian, Qing Wang, Limei Chen, Qisang Guo and Jiangnan Wu
Alterations in DNA methylation are demonstrated in atherosclerosis pathogenesis. However, changing rules of global DNA methylation and hydroxymethylation in peripheral blood leukocytes (PBLs) and different blo...
Authors: Qianyun Deng, Wei Huang, Chunyan Peng, Jiajia Gao, Zuhua Li, Xueping Qiu, Na Yang, Bifeng Yuan and Fang Zheng
The idea that changes to the host immune system are critical for cancer progression was proposed a century ago and recently regained experimental support.
Authors: Yonghong Zhang, Sophie Petropoulos, Jinhua Liu, David Cheishvili, Rudy Zhou, Sergiy Dymov, Kang Li, Ning Li and Moshe Szyf
Chronic lung diseases such as chronic obstructive pulmonary disease (COPD) and epigenetic events underlie lung cancer (LC) development. The study objective was that lung tumor expression levels of specific mic...
Authors: Mercè Mateu-Jimenez, Víctor Curull, Alberto Rodríguez-Fuster, Rafael Aguiló, Albert Sánchez-Font, Lara Pijuan, Joaquim Gea and Esther Barreiro
Polycystic ovary syndrome (PCOS), whose etiology remains uncertain, is a highly heterogenous and genetically complex endocrine disorder. The aim of this study was to identify differentially expressed genes (DE...
Authors: Jie-Xue Pan, Ya-Jing Tan, Fang-Fang Wang, Ning-Ning Hou, Yu-Qian Xiang, Jun-Yu Zhang, Ye Liu, Fan Qu, Qing Meng, Jian Xu, Jian-Zhong Sheng and He-Feng Huang
Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. A...
Authors: Alexandre A. Lussier, Alexander M. Morin, Julia L. MacIsaac, Jenny Salmon, Joanne Weinberg, James N. Reynolds, Paul Pavlidis, Albert E. Chudley and Michael S. Kobor
Estimates of biological age derived from DNA-methylation patterns—known as the epigenetic clock—are associated with mortality, physical and cognitive function, and frailty, but little is known about their rela...
Authors: Catharine R. Gale, Riccardo E. Marioni, Iva Čukić, Sebastien F. Chastin, Philippa M. Dall, Manon L. Dontje, Dawn A. Skelton and Ian J. Deary
We conducted an epigenome-wide association study (EWAS) on obesity in healthy youth and young adults and further examined to what extent identified signals influenced gene expression and were independent of ce...
Authors: Xiaoling Wang, Yue Pan, Haidong Zhu, Guang Hao, Yisong Huang, Vernon Barnes, Huidong Shi, Harold Snieder, James Pankow, Kari North, Megan Grove, Weihua Guan, Ellen Demerath, Yanbin Dong and Shaoyong Su
DNA methylation of CpG sites on genetic loci has been linked to increased risk of asthma in children exposed to elevated ambient air pollutants (AAPs). Further identification of specific CpG sites and the poll...
Authors: Mary Prunicki, Laurel Stell, Deendayal Dinakarpandian, Mariangels de Planell-Saguer, Richard W. Lucas, S. Katharine Hammond, John R. Balmes, Xiaoying Zhou, Tara Paglino, Chiara Sabatti, Rachel L. Miller and Kari C. Nadeau
New efficient therapies for urothelial carcinoma (UC) are urgently required. Small-molecule drugs targeting chromatin regulators are reasonable candidates because these regulators are frequently mutated or der...
Authors: Alexander S. Hölscher, Wolfgang A. Schulz, Maria Pinkerneil, Günter Niegisch and Michèle J. Hoffmann
Lung function is an important predictor of morbidity and mortality, with accelerated lung function decline reported to have immense consequences for the world’s healthcare systems. The lung function decline ac...
Authors: Anneli C. S. Bolund, Anna Starnawska, Martin R. Miller, Vivi Schlünssen, Vibeke Backer, Anders D. Børglum, Kaare Christensen, Qihua Tan, Lene Christiansen and Torben Sigsgaard
This study was aimed at understanding whether bronchial biopsy specimen can be used as a surrogate for DNA methylation analysis in surgically resected lung cancer.
Authors: Sang-Won Um, Hong Kwan Kim, Yujin Kim, Bo Bin Lee, Dongho Kim, Joungho Han, Hojoong Kim, Young Mog Shim and Duk-Hwan Kim
Esophageal squamous cell carcinoma (ESCC) is one of the 10 most incident cancer types in the world, and it is mainly associated with tobacco and alcohol consumption. ESCC mortality rates stand very close to it...
Authors: Isabela Martins Gonzaga, Sheila Coelho Soares Lima, Marina Chianello Nicolau, Pedro Nicolau-Neto, Nathalia Meireles da Costa, Tatiana de Almeida Simão, Hector Hernandez-Vargas, Zdenko Herceg and Luis Felipe Ribeiro Pinto
DNA methylation has been implicated as a promising biomarker for precise cancer diagnosis. However, limited DNA methylation-based biomarkers have been described in esophageal squamous cell carcinoma (ESCC).
Authors: Weilin Pu, Chenji Wang, Sidi Chen, Dunmei Zhao, Yinghui Zhou, Yanyun Ma, Ying Wang, Caihua Li, Zebin Huang, Li Jin, Shicheng Guo, Jiucun Wang and Minghua Wang
Wilms tumor (WT) is a curable pediatric renal malignancy, but there is a need for new molecular biomarkers to improve relapse risk-directed therapy. Somatic alterations occur at relatively low frequencies wher...
Authors: Bruna M. de Sá Pereira, Rafaela Montalvão-de-Azevedo, Paulo Antônio Faria, Neimar de Paula Silva, Pedro Nicolau-Neto, Mariana Maschietto, Beatriz de Camargo and Sheila Coelho Soares Lima
