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
MicroRNAs (miRNAs) in circulation have emerged as promising biomarkers. In this study, we aimed to identify a circulating miRNA signature for osteoarthritis (OA) patients and in combination with bioinformatics...
Authors: E. Ntoumou, M. Tzetis, M. Braoudaki, G. Lambrou, M. Poulou, K. Malizos, N. Stefanou, L. Anastasopoulou and A. Tsezou
Colorectal cancer (CRC) screening is the most efficient strategy to reduce disease-related mortality. Frequent aberrant DNA methylation is known to occur in selected genes and early during CRC development, whi...
Authors: Tae Jeong Oh, Hyun Il Oh, Yang Yei Seo, Dongjun Jeong, Changjin Kim, Hyoun Woo Kang, Yoon Dae Han, Hyun Cheol Chung, Nam Kyu Kim and Sungwhan An
SHOX2 and SEPT9 methylation in circulating cell-free DNA (ccfDNA) in blood are established powerful and clinically valuable biomarkers for diagnosis, staging, prognosis, and monitoring...
Authors: Luka de Vos, Heidrun Gevensleben, Andreas Schröck, Alina Franzen, Glen Kristiansen, Friedrich Bootz and Dimo Dietrich
In the last years, the explosion of high throughput sequencing technologies has enabled epigenome-wide analyses, allowing a more comprehensive overview of the oropharyngeal squamous cell carcinoma (OPSCC) epig...
Authors: Paolo Boscolo-Rizzo, Carlo Furlan, Valentina Lupato, Jerry Polesel and Elisabetta Fratta
Hwang et al. recently showed that VGF substantially contributes to the resistance of human lung cancer cells towards epidermal growth factor receptor kinase inhibitors. This was further linked to enhanced epit...
Authors: Sebastian Marwitz, Lena Heinbockel, Swetlana Scheufele, Dörte Nitschkowski, Christian Kugler, Sven Perner, Martin Reck, Ole Ammerpohl and Torsten Goldmann
Both defective DNA methylation and active DNA demethylation processes are emerging as important risk factors in chronic lymphocytic leukemia (CLL). However, associations between 5-cytosine epigenetic markers a...
Authors: Cristina Bagacean, Christelle Le Dantec, Christian Berthou, Adrian Tempescul, Hussam Saad, Anne Bordron, Mihnea Zdrenghea, Victor Cristea, Nathalie Douet-Guilbert and Yves Renaudineau
AXL is one of the TAM (TYRO3, AXL and MERTK) receptor tyrosine kinases and may affect numerous immune-related health conditions. However, the role for AXL in asthma, including its epig...
Authors: Lu Gao, Joshua Millstein, Kimberly D. Siegmund, Louis Dubeau, Rachel Maguire, Frank D. Gilliland, Susan K. Murphy, Cathrine Hoyo and Carrie V. Breton
Eating disorders (ED) are chronic psychiatric disorders, common amongst women of reproductive age. ED in pregnancy are associated with poor nutrition and abnormal intrauterine growth. Increasing evidence also ...
Authors: Nabila Kazmi, Tom R. Gaunt, Caroline Relton and Nadia Micali
The screening and diagnosis of colorectal cancer (CRC) currently relies heavily on invasive endoscopic techniques as well as imaging and antigen detection tools. More accessible and reliable biomarkers are nec...
Authors: Laura Moody, Hongshan He, Yuan-Xiang Pan and Hong Chen
HPV DNA testing as a primary screening marker is being implemented in several countries. Due to the high HPV prevalence in the screening population, effective triage strategies for HPV-positive cases are requi...
Authors: Martina Schmitz, Kristina Wunsch, Heike Hoyer, Cornelia Scheungraber, Ingo B. Runnebaum, Alfred Hansel and Matthias Dürst
Alcohol consumption during pregnancy is a significant public health problem and can result in a continuum of adverse outcomes to the fetus known as fetal alcohol spectrum disorders (FASD). Subjects with FASD s...
Authors: Nadia Rachdaoui, Ling Li, Belinda Willard, Takhar Kasumov, Stephen Previs and Dipak Sarkar
Hepatocellular carcinoma is the fifth most common malignancy and the third leading cause of cancer-related death worldwide. Dysregulation of HomeoboxD10 (HOXD10) was found to suppress or promote cancer progres...
Authors: Yulin Guo, Yaojun Peng, Dan Gao, Meiying Zhang, Weili Yang, Enqiang Linghu, James G. Herman, François Fuks, Guanglong Dong and Mingzhou Guo
ZNF331 was reported to be a transcriptional repressor. Methylation of the promoter region of ZNF331 has been found frequently in human esophageal and gastric cancers. The function and methylation status of ZNF...
Authors: Yuzhu Wang, Tao He, James G. Herman, Enqiang Linghu, Yunsheng Yang, François Fuks, Fuyou Zhou, Linjie Song and Mingzhou Guo
Multiple aberrant microRNA expression has been reported in gastric cancer. Among them, microRNA-335-5p (miR-335), a microRNA regulated by DNA methylation, has been reported to possess both tumor suppressor and...
Authors: Alejandra Sandoval-Bórquez, Iva Polakovicova, Nicolás Carrasco-Véliz, Lorena Lobos-González, Ismael Riquelme, Gonzalo Carrasco-Avino, Carolina Bizama, Enrique Norero, Gareth I. Owen, Juan C. Roa and Alejandro H. Corvalán
Recent studies have identified age-related changes in DNA methylation patterns in normal and cancer tissues in a process that is called epigenetic drift. However, the evolving patterns, functional consequences...
Authors: E. Georg Luebeck, Kit Curtius, William D. Hazelton, Sean Maden, Ming Yu, Prashanthi N. Thota, Deepa T. Patil, Amitabh Chak, Joseph E. Willis and William M. Grady
Asthma heritability has only been partially explained by genetic variants and is known to be sensitive to environmental factors, implicating epigenetic modifications such as DNA methylation in its pathogenesis.
Authors: Ryan Arathimos, Matthew Suderman, Gemma C. Sharp, Kimberley Burrows, Raquel Granell, Kate Tilling, Tom R. Gaunt, John Henderson, Susan Ring, Rebecca C. Richmond and Caroline L. Relton
Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole ge...
Authors: Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F. Barth and Reiner Siebert
Studies of genes that play an important role in the development of obesity are needed, especially studies focusing on genes that regulate food intake and affect nutrient metabolism. For example, the beta-3 adr...
Authors: Raquel Patrícia Ataíde Lima, Rayner Anderson Ferreira do Nascimento, Rafaella Cristhine Pordeus Luna, Darlene Camati Persuhn, Alexandre Sérgio da Silva, Maria da Conceição Rodrigues Gonçalves, Alessio Tony Cavalcanti de Almeida, Ronei Marcos de Moraes, Eliseu Verly Junior, Emmanuelle Fouilloux-Meugnier, Hubert Vidal, Luciano Pirola, Marciane Magnani, Naila Francis Paulo de Oliveira, Patrícia Oliveira Prada and Maria José de Carvalho Costa
KIBRA has been suggested as a key regulator of the Hippo signaling pathway, regulating organ size, cell contact inhibition, tissue regeneration as well as tumorigenesis and cystogenesis. We recently reported t...
Authors: Katrin Schelleckes, Boris Schmitz, Giuliano Ciarimboli, Malte Lenders, Hermann J. Pavenstädt, Edwin Herrmann, Stefan-Martin Brand and Eva Brand
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 childre...
Authors: Lia Gore, Timothy J. Triche Jr, 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…
