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  1. Content type: Research

    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...

    Authors: Takeshi Niinuma, Hiroshi Kitajima, Masahiro Kai, Eiichiro Yamamoto, Akira Yorozu, Kazuya Ishiguro, Hajime Sasaki, Gota Sudo, Mutsumi Toyota, Tomo Hatahira, Reo Maruyama, Takashi Tokino, Hiroshi Nakase, Tamotsu Sugai and Hiromu Suzuki

    Citation: Clinical Epigenetics 2019 11:70

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  2. Content type: Research

    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...

    Authors: Disline Manli Tantoh, Kuan-Jung Lee, Oswald Ndi Nfor, Yi-Chia Liaw, Chin Lin, Hou-Wei Chu, Pei-Hsin Chen, Shu-Yi Hsu, Wen-Hsiu Liu, Chen-Chang Ho, Chia-Chi Lung, Ming-Fang Wu, Yi-Ching Liaw, Tonmoy Debnath and Yung-Po Liaw

    Citation: Clinical Epigenetics 2019 11:69

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  3. Content type: Research

    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…

    Citation: Clinical Epigenetics 2019 11:68

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  4. Content type: Research

    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…

    Citation: Clinical Epigenetics 2019 11:67

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  5. Content type: Research

    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…

    Citation: Clinical Epigenetics 2019 11:66

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  6. Content type: Research

    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

    Citation: Clinical Epigenetics 2019 11:65

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  7. Content type: Research

    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…

    Citation: Clinical Epigenetics 2019 11:64

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  8. Content type: Research

    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

    Citation: Clinical Epigenetics 2019 11:63

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  9. Content type: Review

    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

    Citation: Clinical Epigenetics 2019 11:62

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  10. Content type: Research

    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...

    Authors: Pooja Sagvekar, Pankaj Kumar, Vijay Mangoli, Sadhana Desai and Srabani Mukherjee

    Citation: Clinical Epigenetics 2019 11:61

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  11. Content type: Research

    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

    Citation: Clinical Epigenetics 2019 11:60

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  12. Content type: Research

    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…

    Citation: Clinical Epigenetics 2019 11:59

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  13. Content type: Research

    Systemic sclerosis (SSc) is a rare autoimmune fibrosing disease with an incompletely understood genetic and non-genetic etiology. Defining its etiology is important to allow the development of effective predic...

    Authors: Paula S. Ramos, Kip D. Zimmerman, Sandra Haddad, Carl D. Langefeld, Thomas A. Medsger Jr and Carol A. Feghali-Bostwick

    Citation: Clinical Epigenetics 2019 11:58

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  14. Content type: Methodology

    There is increasing evidence that folate, an important component of one-carbon metabolism, modulates the epigenome. Alcohol, which can disrupt folate absorption, is also known to affect the epigenome. We inves...

    Authors: F. Perrier, V. Viallon, S. Ambatipudi, A. Ghantous, C. Cuenin, H. Hernandez-Vargas, V. Chajès, L. Baglietto, M. Matejcic, H. Moreno-Macias, T. Kühn, H. Boeing, A. Karakatsani, A. Kotanidou, A. Trichopoulou, S. Sieri…

    Citation: Clinical Epigenetics 2019 11:57

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  15. Content type: Research

    Maternal mood disorders and their treatment during pregnancy may have effects on the offspring epigenome. We aim to evaluate associations of maternal prenatal antidepressant use, anxiety, and depression with c...

    Authors: Andres Cardenas, Sabrina Faleschini, Andrea Cortes Hidalgo, Sheryl L. Rifas-Shiman, Andrea A. Baccarelli, Dawn L. DeMeo, Augusto A. Litonjua, Alexander Neumann, Janine F. Felix, Vincent W. V. Jaddoe, Hanan El Marroun, Henning Tiemeier, Emily Oken, Marie-France Hivert and Heather H. Burris

    Citation: Clinical Epigenetics 2019 11:56

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  16. Content type: Review

    Epigenetics is defined as the science that studies the modifications of gene expression that are not owed to mutations or changes in the genetic sequence. Recently, strong evidences are pinpointing toward a so...

    Authors: Zeina Nehme, Sébastien Pasquereau and Georges Herbein

    Citation: Clinical Epigenetics 2019 11:55

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  17. Content type: Research

    Global DNA methylation alterations are hallmarks of cancer. The tumor-suppressive TET enzymes, which are involved in DNA demethylation, are decreased in prostate cancer (PCa); in particular, TET2 is specifical...

    Authors: Shivani Kamdar, Ruth Isserlin, Theodorus Van der Kwast, Alexandre R. Zlotta, Gary D. Bader, Neil E. Fleshner and Bharati Bapat

    Citation: Clinical Epigenetics 2019 11:54

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  18. Content type: Research

    Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in ...

    Authors: I. M. Krzyzewska, M. Alders, S. M. Maas, J. Bliek, A. Venema, P. Henneman, F. I. Rezwan, K. v. d. Lip, A. N. Mul, D. J. G. Mackay and M. M. A. M. Mannens

    Citation: Clinical Epigenetics 2019 11:53

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  19. Content type: Research

    Alzheimer’s disease is a progressive neurodegenerative disorder that is hypothesized to involve epigenetic dysfunction. Previous studies of DNA modifications in Alzheimer’s disease have been unable to distingu...

    Authors: Adam R. Smith, Rebecca G. Smith, Ehsan Pishva, Eilis Hannon, Janou A. Y. Roubroeks, Joe Burrage, Claire Troakes, Safa Al-Sarraj, Carolyn Sloan, Jonathan Mill, Daniel L. van den Hove and Katie Lunnon

    Citation: Clinical Epigenetics 2019 11:52

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  20. Content type: Research

    Colorectal cancer (CRC) screening can effectively reduce disease-related mortality by detecting CRC at earlier stages. We have previously demonstrated that the presence of SDC2 methylation in stool DNA is signifi...

    Authors: Yoon Dae Han, Tae Jeong Oh, Tae-Ha Chung, Hui Won Jang, Youn Nam Kim, Sungwhan An and Nam Kyu Kim

    Citation: Clinical Epigenetics 2019 11:51

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  21. Content type: Research

    The delta-like non-canonical Notch ligand 1 (DLK1)-maternally expressed 3(MEG3) locus (DLK1-MEG3 locus) plays a critical role in the maintenance and differentiation of hematopoietic stem cells. Accumulating evide...

    Authors: Zachariah Payne Sellers, Lukasz Bolkun, Janusz Kloczko, Marzena Liliana Wojtaszewska, Krzysztof Lewandowski, Marcin Moniuszko, Mariusz Z. Ratajczak and Gabriela Schneider

    Citation: Clinical Epigenetics 2019 11:50

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  22. Content type: Research

    Major challenges in understanding the functional consequences of genetic risk factors for human disease are which tissues and cell types are affected and the limited availability of suitable tissue. The aim of...

    Authors: Sally Mortlock, Restuadi Restuadi, Rupert Levien, Jane E. Girling, Sarah J. Holdsworth-Carson, Martin Healey, Zhihong Zhu, Ting Qi, Yang Wu, Samuel W. Lukowski, Peter A. W. Rogers, Jian Yang, Allan F. McRae, Jenny N. Fung and Grant W. Montgomery

    Citation: Clinical Epigenetics 2019 11:49

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  23. Content type: Research

    Activation of transcription enhancers, especially super-enhancers, is one of the critical epigenetic features of tumorigenesis. However, very few studies have systematically identified the enhancers specific i...

    Authors: Qing-Lan Li, Dan-Ya Wang, Lin-Gao Ju, Jie Yao, Chuan Gao, Pin-Ji Lei, Lian-Yun Li, Xiao-Lu Zhao and Min Wu

    Citation: Clinical Epigenetics 2019 11:48

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  24. Content type: Correction

    Following publication of the original article [1], the author reported the title of this article has been misspelled.

    Authors: Paula Walle, Ville Männistö, Vanessa Derenji de Mello, Maija Vaittinen, Alexander Perfilyev, Kati Hanhineva, Charlotte Ling and Jussi Pihlajamäki

    Citation: Clinical Epigenetics 2019 11:47

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    The original article was published in Clinical Epigenetics 2019 11:10

  25. Content type: Research

    Both SOX2 promoter methylation and air pollution have been associated with lung cancer risk. However, little has been done to assess SOX2 promoter methylation in individuals living in air pollution areas. The ...

    Authors: Disline Manli Tantoh, Ming-Fang Wu, Chien-Chang Ho, Chia-Chi Lung, Kuan-Jung Lee, Oswald Ndi Nfor, Yi-Chia Liaw, Shu-Yi Hsu, Pei-Hsin Chen, Chin Lin, Hou-Wei Chu, Yi-Ching Liaw and Yung-Po Liaw

    Citation: Clinical Epigenetics 2019 11:46

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  26. Content type: Research

    Little is known about the effects of chemotherapeutic drugs on DNA methylation status of leukocytes, which may be predictive of treatment benefits and toxicities. Based on a prospective national study, we char...

    Authors: Song Yao, Qiang Hu, Sarah Kerns, Li Yan, Adedayo A. Onitilo, Jamal Misleh, Kelley Young, Lianlian Lei, Javier Bautista, Mostafa Mohamed, Supriya G. Mohile, Christine B. Ambrosone, Song Liu and Michelle C. Janelsins

    Citation: Clinical Epigenetics 2019 11:45

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  27. Content type: Research

    Toll-like receptor 4 (TLR4) expression is increased in activated monocytes, which play a critical role in the pathogenesis of coronary artery disease (CAD). However, the mechanism remains unclear. Regulatory f...

    Authors: Pei Du, Keqin Gao, Yu Cao, Shuang Yang, Yang Wang, Ren Guo, Ming Zhao and Sujie Jia

    Citation: Clinical Epigenetics 2019 11:44

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  28. Content type: Short report

    The human chromosome 14q32.2 imprinted region harbors the primary MEG3/DLK1:IG-differentially methylated region (DMR) and secondary MEG3:TSS-DMR. The MEG3:TSS-DMR can remain unmethylated only in the presence of u...

    Authors: Masayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, Kentaro Matsuoka, Akie Nakamura, Keiko Matsubara, Kazuhiko Nakabayashi, Shuji Takada, Maki Fukami and Tsutomu Ogata

    Citation: Clinical Epigenetics 2019 11:42

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  29. Content type: Research

    Epigenetic alternation is a common contributing factor to neoplastic transformation. Although previous studies have reported a cluster of aberrant promoter methylation changes associated with silencing of tumo...

    Authors: Simeng Gu, Shujuan Lin, Ding Ye, Sangni Qian, Danjie Jiang, Xiaocong Zhang, Qilong Li, Jinhua Yang, Xiaojiang Ying, Zhenjun Li, Mengling Tang, Jianbing Wang, Mingjuan Jin and Kun Chen

    Citation: Clinical Epigenetics 2019 11:41

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  30. Content type: Research

    Isolated orofacial clefts are among the most common congenital birth defects. Although the underlying biological mechanisms remain largely unknown, clefts are thought to be complex disorders influenced by gene...

    Authors: Zongli Xu, Rolv T. Lie, Allen J. Wilcox, Ola Didrik Saugstad and Jack A. Taylor

    Citation: Clinical Epigenetics 2019 11:40

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  31. Content type: Research

    Cholangiocarcinoma (CCA) is a fatal cancer of the bile duct epithelial cell lining. The misdiagnosis of CCA and other biliary diseases may occur due to the similarity of clinical manifestations and blood tests...

    Authors: Wiphawan Wasenang, Ponlatham Chaiyarit, Siriporn Proungvitaya and Temduang Limpaiboon

    Citation: Clinical Epigenetics 2019 11:39

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  32. Content type: Research

    The current prognosis of thymic epithelial tumors (TETs) is according to the World Health Organization (WHO) histologic classification and the Masaoka staging system. These methods of prognosis have certain li...

    Authors: Songlin Li, Yuan Yuan, He Xiao, Jiajia Dai, Yunfei Ye, Qin Zhang, Zhimin Zhang, Yuhan Jiang, Jia Luo, Jing Hu, Chuan Chen and Ge Wang

    Citation: Clinical Epigenetics 2019 11:38

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  33. Content type: Research

    Ambient air pollution is associated with numerous adverse health outcomes, but the underlying mechanisms are not well understood; epigenetic effects including altered DNA methylation could play a role. To eval...

    Authors: Mi Kyeong Lee, Cheng-Jian Xu, Megan U. Carnes, Cody E. Nichols, James M. Ward, Sung Ok Kwon, Sun-Young Kim, Woo Jin Kim and Stephanie J. London

    Citation: Clinical Epigenetics 2019 11:37

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  34. Content type: Short report

    Human 15q11–13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. These ...

    Authors: Keiko Matsubara, Masatsune Itoh, Kenji Shimizu, Shinji Saito, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Kenji Kurosawa, Tsutomu Ogata, Maki Fukami and Masayo Kagami

    Citation: Clinical Epigenetics 2019 11:36

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  35. Content type: Research

    Genome-wide studies have begun to link subtle variations in both allelic DNA methylation and parent-of-origin genetic effects with early development. Numerous reports have highlighted that the placenta plays a...

    Authors: Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, Jose Ramon Hernandez Mora, Nuria Tubío Santamaría, Eduard Gratacós, Manel Esteller, Miguel López de Heredia, Virgina Nunes, Cecile Choux, Patricia Fauque, Guiomar Perez de Nanclares, Lauren Anton, Michal A. Elovitz, Isabel Iglesias-Platas and David Monk

    Citation: Clinical Epigenetics 2019 11:35

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  36. Content type: Review

    Epigenetic pathways play a pivotal role in the development and function of the immune system. Over the last decade, a growing body of studies has been published out seeking to explain a correlation between epi...

    Authors: Roberta Mazzone, Clemens Zwergel, Marco Artico, Samanta Taurone, Massimo Ralli, Antonio Greco and Antonello Mai

    Citation: Clinical Epigenetics 2019 11:34

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  37. Content type: Research

    Pathological complete response (pCR) after neoadjuvant chemotherapy (NAC) in triple-negative breast cancer (TNBC) varies between 30 and 40% approximately. To provide further insight into the prediction of pCR,...

    Authors: Begoña Pineda, Angel Diaz-Lagares, José Alejandro Pérez-Fidalgo, Octavio Burgués, Inés González-Barrallo, Ana B. Crujeiras, Juan Sandoval, Manel Esteller, Ana Lluch and Pilar Eroles

    Citation: Clinical Epigenetics 2019 11:33

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  38. Content type: Research

    Maternal blood folate concentrations during pregnancy have been previously linked with DNA methylation patterns, but this has been done predominantly through observational studies. We showed recently in an epi...

    Authors: Rachelle E. Irwin, Sara-Jayne Thursby, Miroslava Ondičová, Kristina Pentieva, Helene McNulty, Rebecca C. Richmond, Aoife Caffrey, Diane J. Lees-Murdock, Marian McLaughlin, Tony Cassidy, Matthew Suderman, Caroline L. Relton and Colum P. Walsh

    Citation: Clinical Epigenetics 2019 11:31

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  39. Content type: Research

    Deletions of the imprinting centre 1 (IC1) in 11p15.5 are rare and their clinical significance is not only influenced by their parental origin but also by their exact genomic localization. In case the maternal...

    Authors: Florian Kraft, Katharina Wesseler, Matthias Begemann, Ingo Kurth, Miriam Elbracht and Thomas Eggermann

    Citation: Clinical Epigenetics 2019 11:30

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  40. Content type: Research

    Nearly 25% of long intergenic non-coding RNAs (lincRNAs) recruit chromatin-modifying proteins (e.g., EZH2) to silence target genes. HOX antisense intergenic RNA (HOTAIR) is deregulated in diverse cancers and c...

    Authors: Yu Ren, Yun-fei Wang, Jing Zhang, Qi-xue Wang, Lei Han, Mei Mei and Chun-sheng Kang

    Citation: Clinical Epigenetics 2019 11:29

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  41. Content type: Research

    Patients with unprovoked first venous thromboembolism (VTE) are at a high risk of recurrence. Although circulating microRNAs (miRNAs) have been found to be associated with VTE and are markers of hypercoagulabi...

    Authors: Xiao Wang, Kristina Sundquist, Peter J. Svensson, Hamideh Rastkhani, Karolina Palmér, Ashfaque A. Memon, Jan Sundquist and Bengt Zöller

    Citation: Clinical Epigenetics 2019 11:28

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  42. Content type: Research

    Genetic and environmental risk factors contribute to periodontal disease, but the underlying susceptibility pathways are not fully understood. Epigenetic mechanisms are malleable regulators of gene function th...

    Authors: Yuko Kurushima, Pei-Chien Tsai, Juan Castillo-Fernandez, Alexessander Couto Alves, Julia Sarah El-Sayed Moustafa, Caroline Le Roy, Tim D. Spector, Mark Ide, Francis J. Hughes, Kerrin S. Small, Claire J. Steves and Jordana T. Bell

    Citation: Clinical Epigenetics 2019 11:27

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  43. Content type: Research

    Preterm birth (PTB), defined as child birth before completion of 37 weeks of gestation, is a major challenge in perinatal health care and can bear long-term medical and financial burden. Over a million childre...

    Authors: Yonghui Wu, Xinyi Lin, Ives Yubin Lim, Li Chen, Ai Ling Teh, Julia L. MacIsaac, Kok Hian Tan, Michael S. Kobor, Yap Seng Chong, Peter D. Gluckman and Neerja Karnani

    Citation: Clinical Epigenetics 2019 11:26

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  44. Content type: Research

    Blood-based gene expression or epigenetic biomarkers of Parkinson’s disease (PD) are highly desirable. However, accuracy and specificity need to be improved, and methods for the integration of gene expression ...

    Authors: Changliang Wang, Liang Chen, Yang Yang, Menglei Zhang and Garry Wong

    Citation: Clinical Epigenetics 2019 11:24

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  45. Content type: Research

    Multiple epigenome-wide association studies have been performed to identify DNA methylation patterns regulated by aging or correlated with risk of death. However, the inter-relatedness of the epigenetic basis ...

    Authors: Jesper Beltoft Lund, Shuxia Li, Jan Baumbach, Anne Marie Svane, Jacob Hjelmborg, Lene Christiansen, Kaare Christensen, Paul Redmond, Riccardo E. Marioni, Ian J. Deary and Qihua Tan

    Citation: Clinical Epigenetics 2019 11:23

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  46. Content type: Research

    Circular RNA (circRNA) is involved in the pathological processes of various diseases. CircRNA is more stable than linear RNAs and is expressed in high levels in tissues, making it a better biomarker candidate ...

    Authors: Hangyu Wu, Siyang Wu, Yingchao Zhu, Mei Ye, Jun Shen, Yan Liu, Yisheng Zhang and Shizhong Bu

    Citation: Clinical Epigenetics 2019 11:22

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  47. Content type: Research

    Human-assisted reproductive technologies (ART) are a widely accepted treatment for infertile couples. At the same time, many studies have suggested the correlation between ART and increased incidences of norma...

    Authors: Hiromitsu Hattori, Hitoshi Hiura, Akane Kitamura, Naoko Miyauchi, Norio Kobayashi, Souta Takahashi, Hiroaki Okae, Koichi Kyono, Masayo Kagami, Tsutomu Ogata and Takahiro Arima

    Citation: Clinical Epigenetics 2019 11:21

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