Parkinson’s disease (PD) is characterized by the loss of midbrain dopaminergic neurons (DAn). Previously, we described the presence of DNA hyper- and hypo-methylation alterations in induced pluripotent stem ce...
Authors: Rubén Fernández-Santiago, Angelika Merkel, Giancarlo Castellano, Simon Heath, Ángel Raya, Eduard Tolosa, María-José Martí, Antonella Consiglio and Mario Ezquerra
Idiopathic scoliosis (IS) is a complex disease with an unclear etiology, and the worldwide prevalence is approximately 2–3%. As an important link between environmental factors and phenotypic differences, epige...
Guadecitabine is a novel DNA methyltransferase (DNMT) inhibitor with improved pharmacokinetics and clinical activity in a subset of patients with relapsed/refractory acute myeloid leukemia (r/r AML), but ident...
Authors: Woonbok Chung, Andrew D. Kelly, Patricia Kropf, Henry Fung, Jaroslav Jelinek, Xiang Yao Su, Gail J. Roboz, Hagop M. Kantarjian, Mohammad Azab and Jean-Pierre J. Issa
The oral mucosa has an important role in maintaining barrier integrity at the gateway to the gastrointestinal and respiratory tracts. Smoking is a strong environmental risk factor for the common oral inflammat...
Authors: Gesa M. Richter, Jochen Kruppa, Matthias Munz, Ricarda Wiehe, Robert Häsler, Andre Franke, Orlando Martins, Yvonne Jockel-Schneider, Corinna Bruckmann, Henrik Dommisch and Arne S. Schaefer
Non-alcoholic fatty liver disease (NAFLD) is estimated to affect 24% of the global adult population. NAFLD is a major risk factor for the development of cirrhosis and hepatocellular carcinoma, as well as being...
Authors: Matthew C. Sinton, David C. Hay and Amanda J. Drake
Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (> 200 ASD-risk genes), no single gene variant accounts...
Authors: M. T. Siu, D. T. Butcher, A. L. Turinsky, C. Cytrynbaum, D. J. Stavropoulos, S. Walker, O. Caluseriu, M. Carter, Y. Lou, R. Nicolson, S. Georgiades, P. Szatmari, E. Anagnostou, S. W. Scherer, S. Choufani, M. Brudno…
Apabetalone (RVX-208) is a bromodomain and extraterminal protein inhibitor (BETi) that in phase II trials reduced the relative risk (RR) of major adverse cardiac events (MACE) in patients with cardiovascular d...
Authors: Laura M. Tsujikawa, Li Fu, Shovon Das, Christopher Halliday, Brooke D. Rakai, Stephanie C. Stotz, Christopher D. Sarsons, Dean Gilham, Emily Daze, Sylwia Wasiak, Deborah Studer, Kristina D. Rinker, Michael Sweeney, Jan O. Johansson, Norman C. W. Wong and Ewelina Kulikowski
Peptides originating from different sources (endogenous, food derived, environmental, and synthetic) are able to influence different aspects of epigenetic regulation. Endogenous short peptides, resulting from ...
Authors: Yorick Janssens, Evelien Wynendaele, Wim Vanden Berghe and Bart De Spiegeleer
Clustered protocadherins (PCDHs) map in tandem at human chromosome 5q31 and comprise three multi-genes clusters: α-, β- and γ-PCDH. The expression of this cluster consists of a complex mechanism involving DNA hub...
Authors: Ana Florencia Vega-Benedetti, Eleonora Loi, Loredana Moi, Sylvain Blois, Antonio Fadda, Manila Antonelli, Antonella Arcella, Manuela Badiali, Felice Giangaspero, Isabella Morra, Amedeo Columbano, Angelo Restivo, Luigi Zorcolo, Viviana Gismondi, Liliana Varesco, Sara Erika Bellomo…
Prostate cancer (PC) is a commonly diagnosed malignancy in males, especially in the western hemisphere. The extensive use of multiple biomarkers plays an important role in the diagnosis and prognosis of PC. Ho...
Authors: Xin Li, Wanfeng Zhang, Jing Song, Xianqin Zhang, Longke Ran and Yunfeng He
Colorectal cancer (CRC) is the fourth leading cause of cancer-related deaths worldwide, and deciphering underlying molecular mechanism is essential. The loss of monoubiquitinated histone H2B (H2Bub1) was corre...
Authors: Deborah Schneider, Robert Lorenz Chua, Nicole Molitor, Feda H. Hamdan, Eva Maria Rettenmeier, Evangelos Prokakis, Vivek Kumar Mishra, Vijayalakshmi Kari, Florian Wegwitz, Steven A. Johnsen and Robyn Laura Kosinsky
Maternal smoking during pregnancy is associated with adverse offspring health outcomes across their life course. We hypothesize that DNA methylation is a potential mediator of this relationship.
Authors: Petri Wiklund, Ville Karhunen, Rebecca C. Richmond, Priyanka Parmar, Alina Rodriguez, Maneka De Silva, Matthias Wielscher, Faisal I. Rezwan, Tom G. Richardson, Juha Veijola, Karl-Heinz Herzig, John W. Holloway, Caroline L. Relton, Sylvain Sebert and Marjo-Riitta Järvelin
Methylation of the hypoxia-inducible factor 3α gene (HIF3A) has been linked to pregnancy exposures, infant adiposity and later BMI. Genetic variation influences HIF3A methylation levels and may modify these relat...
Authors: Toby Mansell, Anne-Louise Ponsonby, Vania Januar, Boris Novakovic, Fiona Collier, David Burgner, Peter Vuillermin, Joanne Ryan and Richard Saffery
Compared to healthy individuals, those with stably repressed HIV experience a higher risk of developing insulin resistance, a hallmark of pre-diabetes and a major determinant for cardiometabolic diseases. Alth...
Authors: Christian K. Dye, Michael J. Corley, Dongmei Li, Vedbar S. Khadka, Brooks I. Mitchell, Razvan Sultana, Annette Lum-Jones, Cecilia M. Shikuma, Lishomwa C. Ndhlovu and Alika K. Maunakea
Genomic imprinting, mediated by parent-of-origin-specific epigenetic silencing, adjusts the gene expression dosage in mammals. We aimed to clarify parental allelic expression in the human placenta for 396 clai...
Authors: Diana Pilvar, Mario Reiman, Arno Pilvar and Maris Laan
Comprehensive analysis of the tissue of origin of plasma cell-free DNA (cfDNA) remains insufficient. A genome-scale DNA methylation method for this analysis is of both biological and clinical interest.
Authors: Xiaomeng Liu, Jie Ren, Nan Luo, Huahu Guo, Yuxuan Zheng, Jingyi Li, Fuchou Tang, Lu Wen and Jirun Peng
ARID1A (AT-rich interactive domain-containing protein 1A) is a subunit of the BAF chromatin remodeling complex and plays roles in transcriptional regulation and DNA damage response. Mutations in ARID1A that lead ...
Authors: Madhobi Sen, Xin Wang, Feda H. Hamdan, Jacobe Rapp, Jessica Eggert, Robyn Laura Kosinsky, Florian Wegwitz, Ana Patricia Kutschat, Fereshteh S. Younesi, Jochen Gaedcke, Marian Grade, Elisabeth Hessmann, Argyris Papantonis, Philipp Strӧbel and Steven A. Johnsen
Drawing the epigenome landscape of Alzheimer’s disease (AD) still remains a challenge. To characterize the epigenetic molecular basis of the human hippocampus in AD, we profiled genome-wide DNA methylation lev...
Authors: Miren Altuna, Amaya Urdánoz-Casado, Javier Sánchez-Ruiz de Gordoa, María V. Zelaya, Alberto Labarga, Julie M. J. Lepesant, Miren Roldán, Idoia Blanco-Luquin, Álvaro Perdones, Rosa Larumbe, Ivonne Jericó, Carmen Echavarri, Iván Méndez-López, Luisa Di Stefano and Maite Mendioroz
Sessile serrated adenomas (SSAs) are common polyps which give rise to 20–30% of colorectal cancer (CRC). SSAs display clinicopathologic features which present challenges in surveillance, including overrepresen...
Authors: Cheng Liu, Lochlan J. Fennell, Mark L. Bettington, Neal I. Walker, Joel Dwine, Barbara A. Leggett and Vicki L. J. Whitehall
Cardiac disease modelling using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CM) requires thorough insight into cardiac cell type differentiation processes. However, current methods to dis...
Authors: Kirstin Hoff, Marta Lemme, Anne-Karin Kahlert, Kerstin Runde, Enrique Audain, Dorit Schuster, Jens Scheewe, Tim Attmann, Thomas Pickardt, Almuth Caliebe, Reiner Siebert, Hans-Heiner Kramer, Hendrik Milting, Arne Hansen, Ole Ammerpohl and Marc-Phillip Hitz
To evaluate the association of early-life exposure to the Chinese Great Famine (1959–1961) with DNA methylation in IGF2 and its subsequent influence on blood lipid levels in late adulthood among participants of t...
Authors: Luqi Shen, Changwei Li, Zhenghe Wang, Ruiyuan Zhang, Ye Shen, Toni Miles, Jingkai Wei and Zhiyong Zou
Numerous studies have demonstrated that DNA methylation levels in the aryl hydrocarbon receptor repressor (AHRR) gene measured in cord blood are significantly associated with prenatal tobacco smoke exposure and c...
Authors: Matthew A. Bergens, Gary S. Pittman, Isabel J. B. Thompson, Michelle R. Campbell, Xuting Wang, Cathrine Hoyo and Douglas A. Bell
Due to limited access to brain tissue, the precise mechanisms underlying neuro-axonal dysfunction in neurological disorders such as multiple sclerosis (MS) are largely unknown. In that context, profiling DNA m...
Authors: Lara Kular, Maria Needhamsen, Milena Z. Adzemovic, Tatiana Kramarova, David Gomez-Cabrero, Ewoud Ewing, Eliane Piket, Jesper Tegnér, Stephan Beck, Fredrik Piehl, Lou Brundin and Maja Jagodic
Oncogenic K-Ras signaling highly relies on the canonical Ras/MEK/ERK pathway to contribute to pancreatic cancer progression. However, numerous efforts of MEK inhibitors have failed to provide an optimal antitu...
Authors: Min-Wu Chao, Li-Hsun Chang, Huang-Ju Tu, Chao-Di Chang, Mei-Jung Lai, Yi-Ying Chen, Jing-Ping Liou, Che-Ming Teng and Shiow-Lin Pan
Hypertension is one of primary clinical presentations of pre-eclampsia. The occurrence and progress of hypertension are closely related to vascular dysfunction. However, information is limited regarding the pa...
Authors: Qinqin Gao, Xiaorong Fan, Ting Xu, Huan Li, Yun He, Yuxian Yang, Jie Chen, Hongmei Ding, Jianying Tao and Zhice Xu
Epigenetic mechanisms may play a major role in the biological embedding of early-life stress (ELS). One proposed mechanism is that glucocorticoid (GC) release following ELS exposure induces long-lasting altera...
Authors: Tobias Wiechmann, Simone Röh, Susann Sauer, Darina Czamara, Janine Arloth, Maik Ködel, Madita Beintner, Lisanne Knop, Andreas Menke, Elisabeth B. Binder and Nadine Provençal
It is thought that germ cells and preimplantation embryos during development are most susceptible to endogenous and exogenous environmental factors because the epigenome in those cells is undergoing dramatic e...
Authors: Shizhao Li, Min Chen, Yuanyuan Li and Trygve O. Tollefsbol
The emergence of nanotechnology applied to medicine has revolutionized the treatment of human cancer. As in the case of classic drugs for the treatment of cancer, epigenetic drugs have evolved in terms of thei...
Authors: Annalisa Roberti, Adolfo F. Valdes, Ramón Torrecillas, Mario F. Fraga and Agustin F. Fernandez
DNA methylation has recently been identified as a mediator between in utero famine exposure and a range of metabolic and psychiatric traits. However, genome-wide analyses are scarce and cross-sectional analyse...
Authors: Yujie He, Lot D. de Witte, Lotte C. Houtepen, Danny M. Nispeling, Zhida Xu, Qiong Yu, Yaqin Yu, Elly M. Hol, René S. Kahn and Marco P. Boks
Circadian rhythms orchestrate crucial physiological functions and behavioral aspects around a day in almost all living forms. The circadian clock is a time tracking system that permits organisms to predict and...
Authors: Ignacio Pacheco-Bernal, Fernando Becerril-Pérez and Lorena Aguilar-Arnal
Neuropathic pain (NP) is ranked as one of the major forms of chronic pain and emerges as a direct consequence of a lesion or disease affecting the somatosensory nervous system. Despite great advances into the ...
Authors: Simin Tang, Jun Zhou, Huan Jing, Meijuan Liao, Sen Lin, Zhenxing Huang, Teng Huang, Jiying Zhong and HanbingWang
TP53 is frequently mutated across various tissue types of cancers. In normal cells, long interspersed nuclear element-1 (LINE-1, L1) is mostly repressed by DNA methylation in its 5′ untranslated region but is act...
Authors: Yun-Joo Shin, Younghoon Kim, Xianyu Wen, Nam-Yun Cho, Sun Lee, Woo Ho Kim and Gyeong Hoon Kang
To identify novel epigenetic signatures that could provide predictive information that is complementary to promoter methylation status of the O-6-methylguanine-DNA methyltransferase (MGMT) gene for predicting ...
Authors: An-An Yin, Ya-Long He, Amandine Etcheverry, Yu-He Liu, Marc Aubry, Jill Barnholtz-Sloan, Bo-Lin Liu, Jean Mosser, Zi-Fan Lu and Xiang Zhang
Zinc finger and BTB domain-containing protein 12 (ZBTB12) is a predicted transcription factor with potential role in hematopoietic development. Recent evidence linked low methylation level of ZBTB12 exon1 to myoc...
Authors: Fabrizia Noro, Francesco Gianfagna, Alessandro Gialluisi, Amalia De Curtis, Augusto Di Castelnuovo, Emanuela Napoleone, Chiara Cerletti, Maria Benedetta Donati, Giovanni de Gaetano, Marc F. Hoylaerts, Licia Iacoviello and Benedetta Izzi
Obstetric complications have long been retrospectively associated with a wide range of short- and long-term health consequences, including neurodevelopmental alterations such as those observed in schizophrenia...
Authors: Helena Palma-Gudiel, Elisenda Eixarch, Fátima Crispi, Sebastián Morán, Anthony S. Zannas and Lourdes Fañanás
Epidemiological studies have found that prenatal exposure to polycyclic aromatic hydrocarbons (PAHs) is associated with increased risk for neural tube defects (NTDs). Aberrant DNA methylation, excessive apopto...
Authors: Yun Huang, Aiguo Ren, Linlin Wang, Lei Jin, Shanshan Lin, Zhiwen Li and Jasmine A. McDonald
miR-340-5p, localized to 5q35, is a tumor suppressor miRNA implicated in multiple cancers. As a CpG island is present at the putative promoter region of its host gene, RNF130, we hypothesized that the intronic mi...
Authors: Zhenhai Li, Kwan Yeung Wong, George A. Calin, Wee-Joo Chng, Godfrey Chi-fung Chan and Chor Sang Chim
Ubiquitin-like protein containing PHD and RING finger domains 1 (UHRF1) is a major regulator of epigenetic mechanisms and is overexpressed in various human malignancies. In this study, we examined the involvem...
DNA methylation is associated with cancer, metabolic, neurological, and autoimmune disorders. Hypomethylation of aryl hydrocarbon receptor repressor (AHRR) especially at cg05575921 is associated with smoking a...
DNA methyltransferases (DNMTs) are epigenetic enzymes involved in embryonic development, cell differentiation, epithelial to mesenchymal transition, and control of gene expression, whose overexpression or enha...
Authors: Clemens Zwergel, Michael Schnekenburger, Federica Sarno, Cecilia Battistelli, Maria Cristina Manara, Giulia Stazi, Roberta Mazzone, Rossella Fioravanti, Christina Gros, Frédéric Ausseil, Cristina Florean, Angela Nebbioso, Raffaele Strippoli, Toshikazu Ushijima, Katia Scotlandi, Marco Tripodi…
Genetic aberrations in DNA repair genes are linked to cancer, but less is reported about epigenetic regulation of DNA repair and functional consequences. We investigated the intragenic methylation loss at the ...
Authors: Christoph Weigel, Jittiporn Chaisaingmongkol, Yassen Assenov, Christine Kuhmann, Volker Winkler, Irene Santi, Olga Bogatyrova, Simone Kaucher, Justo L. Bermejo, Suet Y. Leung, Tsun L. Chan, Felix Lasitschka, Manfred H. Bohrer, Alexander Marx, Roland Heyny-von Haußen, Christel Herold-Mende…
It is well established that estrogens and other hormonal factors influence breast cancer susceptibility. We hypothesized that a woman’s total lifetime estrogen exposure accumulates changes in DNA methylation, ...
Authors: Annelie Johansson, Domenico Palli, Giovanna Masala, Sara Grioni, Claudia Agnoli, Rosario Tumino, Maria Concetta Giurdanella, Francesca Fasanelli, Carlotta Sacerdote, Salvatore Panico, Amalia Mattiello, Silvia Polidoro, Michael E. Jones, Minouk J. Schoemaker, Nick Orr, Katarzyna Tomczyk…
Mismatch repair (MMR)-deficiency increases the risk of colorectal tumorigenesis. To determine whether the tumors develop on a normal or disturbed epigenetic background and how radiation affects this, we quanti...
Authors: Maria Herberg, Susann Siebert, Marianne Quaas, Torsten Thalheim, Karen Rother, Michelle Hussong, Janine Altmüller, Christiane Kerner, Joerg Galle, Michal R. Schweiger and Gabriela Aust
ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation...
Authors: Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer…
Accumulating evidence suggests that epigenetic changes play key roles in the pathogenesis of type 2 diabetes mellitus (T2DM). However, the dynamic regulation of 5-methylcytosine (5mC) and 5-hydroxymethylcytosi...
Authors: Er-Feng Yuan, Ying Yang, Lin Cheng, Xujing Deng, Shao-Min Chen, Xin Zhou and Song-Mei Liu
Ageing is one of the principal risk factors for many chronic diseases. However, there is considerable between-person variation in the rate of ageing and individual differences in their susceptibility to diseas...
Authors: Peter D. Fransquet, Jo Wrigglesworth, Robyn L. Woods, Michael E. Ernst and Joanne Ryan
Women with polycystic ovary syndrome (PCOS) manifest a host of ovarian defects like impaired folliculogenesis, anovulation, and poor oocyte quality, which grossly affect their reproductive health. Addressing t...
Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia w...
Authors: Katharina V. Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J. Hopkin, Aaron Hamvas, Jennifer A. Wambach, Marwan Shinawi, Gladys Zapata, Claudia M. B. Carvalho, Qian Liu, Justyna A. Karolak, James R. Lupski, Neil A. Hanchard and Paweł Stankiewicz
Despite improvements in cancer management, most pancreatic cancers are still diagnosed at an advanced stage. We have recently identified promoter DNA methylation of the genes ADAMTS1 and BNC1 as potential blood b...
Authors: Maryam A. L. Eissa, Lane Lerner, Eihab Abdelfatah, Nakul Shankar, Joseph K. Canner, Nesrin M. Hasan, Vesal Yaghoobi, Barry Huang, Zachary Kerner, Felipe Takaesu, Christopher Wolfgang, Ruby Kwak, Michael Ruiz, Matthew Tam, Thomas R. Pisanic II, Christine A. Iacobuzio-Donahue…
