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  1. Methylation of DNA at CpG sites is an epigenetic modification and a potential modifier of disease risk, possibly mediating environmental effects. Currently, DNA methylation is commonly assessed using specific ...

    Authors: Cilla Söderhäll, Lovisa E. Reinius, Pertteli Salmenperä, Massimiliano Gentile, Nathalie Acevedo, Jon R. Konradsen, Björn Nordlund, Gunilla Hedlin, Annika Scheynius, Samuel Myllykangas and Juha Kere
    Citation: Clinical Epigenetics 2021 13:106
  2. Definitive diagnosis of primary central nervous system lymphoma (PCNSL) requires invasive surgical brain biopsy, causing treatment delays. In this paper, we identified and validated tumor-specific markers that...

    Authors: Bradley M. Downs, Wanjun Ding, Leslie M. Cope, Christopher B. Umbricht, Wenge Li, Huihua He, Xiaokang Ke, Matthias Holdhoff, Chetan Bettegowda, Weiping Tao and Saraswati Sukumar
    Citation: Clinical Epigenetics 2021 13:104
  3. Current risk models for renal cell carcinoma (RCC) based on clinicopathological factors are sub-optimal in accurately identifying high-risk patients. Here, we perform a head-to-head comparison of previously pu...

    Authors: S. C. Joosten, S. N. O. Odeh, A. Koch, N. Buekers, M. J. B. Aarts, M. M. L. L. Baldewijns, L. Van Neste, S. van Kuijk, L. J. Schouten, P. A. van den Brandt, V. C. Tjan-Heijnen, M. van Engeland and K. M. Smits
    Citation: Clinical Epigenetics 2021 13:103
  4. DNA methylation profiling has facilitated and improved the classification of a wide variety of tumors of the central nervous system. In this study, we investigated the potential utility of DNA methylation prof...

    Authors: Sandra Ferreyra Vega, Thomas Olsson Bontell, Alba Corell, Anja Smits, Asgeir Store Jakola and Helena Carén
    Citation: Clinical Epigenetics 2021 13:102
  5. Biological relevance of the major testis specific histone H2B variant (TH2B) in sperm is not fully understood. Studies in TH2A/TH2B double knockout male mice indicate its role in chromatin compaction and male ...

    Authors: Aniket Patankar, Rahul Gajbhiye, Suchitra Surve and Priyanka Parte
    Citation: Clinical Epigenetics 2021 13:101
  6. The mechanisms of weight loss and metabolic improvements following bariatric surgery in skeletal muscle are not well known; however, epigenetic modifications are likely to contribute. The aim of our study was ...

    Authors: Luis A. Garcia, Samantha E. Day, Richard L. Coletta, Baltazar Campos, Tonya R. Benjamin, Eleanna De Filippis, James A. Madura II, Lawrence J. Mandarino, Lori R. Roust and Dawn K. Coletta
    Citation: Clinical Epigenetics 2021 13:100
  7. A subset of individuals with type 1 diabetes mellitus (T1DM) are predisposed to developing diabetic kidney disease (DKD), the most common cause globally of end-stage kidney disease (ESKD). Emerging evidence su...

    Authors: L. J. Smyth, J. Kilner, V. Nair, H. Liu, E. Brennan, K. Kerr, N. Sandholm, J. Cole, E. Dahlström, A. Syreeni, R. M. Salem, R. G. Nelson, H. C. Looker, C. Wooster, K. Anderson, G. J. McKay…
    Citation: Clinical Epigenetics 2021 13:99
  8. In DNA methylation analyses like epigenome-wide association studies, effects in differentially methylated CpG sites are assessed. Two kinds of outcomes can be used for statistical analysis: Beta-values and M-valu...

    Authors: Jochen Kruppa, Miriam Sieg, Gesa Richter and Anne Pohrt
    Citation: Clinical Epigenetics 2021 13:98
  9. Epigenetic clocks have been used to indicate differences in biological states between individuals of same chronological age. However, so far, only few studies have examined epigenetic aging in newborns—especia...

    Authors: Linda Dieckmann, Marius Lahti-Pulkkinen, Tuomas Kvist, Jari Lahti, Peter E. DeWitt, Cristiana Cruceanu, Hannele Laivuori, Sara Sammallahti, Pia M. Villa, Sanna Suomalainen-König, Johan G. Eriksson, Eero Kajantie, Katri Raikkönen, Elisabeth B. Binder and Darina Czamara
    Citation: Clinical Epigenetics 2021 13:97
  10. Although esophageal squamous cell carcinoma (ESCC)-oriented mechanism has been widely explored, the integrated action of histone deacetylase 2 (HDAC2), microRNA (miR)-503-5p and C-X-C motif chemokine 10 (CXCL1...

    Authors: Jindong Li, Chengyan Jin, Lihua Sun, Bin Wang, Peiyan Hua and Yan Zhang
    Citation: Clinical Epigenetics 2021 13:96
  11. Circulating folate, vitamin B12 and homocysteine concentrations during fetal development have been associated with health outcomes in childhood. Changes in fetal DNA methylation may be an underlying mechanism....

    Authors: Giulietta S. Monasso, Leanne K. Küpers, Vincent W. V. Jaddoe, Sandra G. Heil and Janine F. Felix
    Citation: Clinical Epigenetics 2021 13:95
  12. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Julia Stomper, Ruth Meier, Tobias Ma, Dietmar Pfeifer, Gabriele Ihorst, Nadja Blagitko-Dorfs, Gabriele Greve, Dennis Zimmer, Uwe Platzbecker, Anne Hagemeijer, Ingrid Schmitt-Graeff and Michael Lübbert
    Citation: Clinical Epigenetics 2021 13:94

    The original article was published in Clinical Epigenetics 2021 13:77

  13. The Encyclopedia of DNA Elements (ENCODE) project has advanced our knowledge of the functional elements in the genome and epigenome. The aim of this article was to provide the comprehension about current resea...

    Authors: Young-Dan Cho, Woo-Jin Kim, Hyun-Mo Ryoo, Hong-Gee Kim, Kyoung-Hwa Kim, Young Ku and Yang-Jo Seol
    Citation: Clinical Epigenetics 2021 13:92
  14. Current non-invasive tests have limited sensitivities and lack capabilities of pre-operative risk stratification for bladder cancer (BC) diagnosis. We aimed to develop and validate a urine-based DNA methylatio...

    Authors: Weimei Ruan, Xu Chen, Ming Huang, Hong Wang, Jiaxin Chen, Zhixin Liang, Jingtong Zhang, Yanqi Yu, Shang Chen, Shizhong Xu, Tianliang Hu, Xia Li, Yuanjie Guo, Zeyu Jiang, Zhiwei Chen, Jian Huang…
    Citation: Clinical Epigenetics 2021 13:91
  15. Colorectal cancer (CRC) is a leading cause of cancer-related deaths worldwide. Early detection of CRC can significantly reduce its mortality rate. Current method of CRC diagnosis relies on the invasive endosco...

    Authors: Yunfeng Zhang, Qian Wu, Linhao Xu, Hong Wang, Xin Liu, Sihui Li, Tianliang Hu, Yanying Liu, Quanzhou Peng, Zhiwei Chen, Xianrui Wu and Jian-Bing Fan
    Citation: Clinical Epigenetics 2021 13:90
  16. Aberrant DNA methylation has been firmly established as a factor contributing to the pathogenesis of colorectal cancer (CRC) via its capacity to silence tumour suppressor genes. However, the methylation status...

    Authors: Keke Shao, Weilin Pu, Jianfeng Zhang, Shicheng Guo, Fei Qian, Ingrid Glurich, Qing Jin, Yanyun Ma, Shaoqing Ju, Zhao Zhang and Weifeng Ding
    Citation: Clinical Epigenetics 2021 13:89
  17. Cancer initiation and progression are driven by genetic and epigenetic changes. Although genome/exome sequencing has significantly contributed to the characterization of the genetic driver alterations, further...

    Authors: Sarah Bazzocco, Higinio Dopeso, Águeda Martínez-Barriocanal, Estefanía Anguita, Rocío Nieto, Jing Li, Elia García-Vidal, Valentina Maggio, Paulo Rodrigues, Priscila Guimarães de Marcondes, Simo Schwartz Jr, Lauri A. Aaltonen, Alex Sánchez, John M. Mariadason and Diego Arango
    Citation: Clinical Epigenetics 2021 13:88
  18. The epigenetic landscape underlying cardiovascular disease (CVD) is not completely understood and the clinical value of the identified biomarkers is still limited. We aimed to identify differentially methylate...

    Authors: Alba Fernández-Sanlés, Sergi Sayols-Baixeras, Isaac Subirana, Mariano Sentí, S. Pérez-Fernández, Manuel de Castro Moura, Manel Esteller, Jaume Marrugat and Roberto Elosua
    Citation: Clinical Epigenetics 2021 13:86
  19. Epigenetic mechanisms are important in aging and may be involved in late-life changes in cognitive abilities. We conducted an epigenome-wide association study of leukocyte DNA methylation in relation to level ...

    Authors: Ida K. Karlsson, Malin Ericsson, Yunzhang Wang, Juulia Jylhävä, Sara Hägg, Anna K. Dahl Aslan, Chandra A. Reynolds and Nancy L. Pedersen
    Citation: Clinical Epigenetics 2021 13:85
  20. Bladder cancer (BC) is the 5th most common cancer in the USA. Non-muscle invasive bladder cancer represents about 70% of all cases and has generally a favorable outcome. However, recurrence rates as high as 60...

    Authors: Paolo Piatti, Yap Ching Chew, Michiko Suwoto, Taikun Yamada, Benjamin Jara, Xi-Yu Jia, Wei Guo, Saum Ghodoussipour, Siamak Daneshmand, Hamed Ahmadi, Jeffrey Rice, Jeffrey Bhasin, Faith Holloway, Yvonne Tsai, Yoshitomo Chihara and Gangning Liang
    Citation: Clinical Epigenetics 2021 13:84
  21. Epigenetic (“above genetics”) modifications can alter the gene expression without altering the DNA sequence. Aberrant epigenetic regulations in cancer include DNA methylation, histone methylation, histone acet...

    Authors: Ning Jin, Tiffany L. George, Gregory A. Otterson, Claire Verschraegen, Haitao Wen, David Carbone, James Herman, Erin M. Bertino and Kai He
    Citation: Clinical Epigenetics 2021 13:83
  22. Gestational age is a useful proxy for assessing developmental maturity, but correct estimation of gestational age is difficult using clinical measures. DNA methylation at birth has proven to be an accurate pre...

    Authors: Kristine L. Haftorn, Yunsung Lee, William R. P. Denault, Christian M. Page, Haakon E. Nustad, Robert Lyle, Håkon K. Gjessing, Anni Malmberg, Maria C. Magnus, Øyvind Næss, Darina Czamara, Katri Räikkönen, Jari Lahti, Per Magnus, Siri E. Håberg, Astanand Jugessur…
    Citation: Clinical Epigenetics 2021 13:82
  23. Eosinophilic esophagitis (EoE) is a leading cause of dysphagia and food impaction in children and adults. The diagnosis relies on histological examination of esophageal mucosal biopsies and requires the presen...

    Authors: Caterina Strisciuglio, Felicity Payne, Komal Nayak, Marialuisa Andreozzi, Alessandra Vitale, Erasmo Miele and Matthias Zilbauer
    Citation: Clinical Epigenetics 2021 13:81
  24. Colonoscopy and the fecal immunochemical test (FIT) are currently the most widely used screening modalities for colorectal cancer (CRC), however, both with their own limitations. Here we aim to identify and va...

    Authors: Glenn Rademakers, Maartje Massen, Alexander Koch, Muriel X. Draht, Nikkie Buekers, Kim A. D. Wouters, Nathalie Vaes, Tim De Meyer, Beatriz Carvalho, Gerrit A. Meijer, James G. Herman, Kim M. Smits, Manon van Engeland and Veerle Melotte
    Citation: Clinical Epigenetics 2021 13:80
  25. Diagnostic biomarkers for detecting chronic obstructive pulmonary disease (COPD) in acute coronary syndrome (ACS) patients are not available. SERPINA1, coding for the most potent circulating anti-inflammatory pro...

    Authors: John Charles Rotondo, Giorgio Aquila, Lucia Oton-Gonzalez, Rita Selvatici, Paola Rizzo, Monica De Mattei, Rita Pavasini, Mauro Tognon, Gianluca Calogero Campo and Fernanda Martini
    Citation: Clinical Epigenetics 2021 13:79
  26. Prenatal symptoms of depression (PND) and anxiety affect up to every third pregnancy. Children of mothers with mental health problems are at higher risk of developmental problems, possibly through epigenetic m...

    Authors: Theodora Kunovac Kallak, Emma Bränn, Emma Fransson, Åsa Johansson, Susanne Lager, Erika Comasco, Robert Lyle and Alkistis Skalkidou
    Citation: Clinical Epigenetics 2021 13:78
  27. Mutations in the EZH2 gene are recurrently found in patients with myeloid neoplasms and are associated with a poor prognosis. We aimed to characterize genetic and epigenetic alterations of EZH2 in 58 patients (51...

    Authors: Julia Stomper, Ruth Meier, Tobias Ma, Dietmar Pfeifer, Gabriele Ihorst, Nadja Blagitko-Dorfs, Gabriele Greve, Dennis Zimmer, Uwe Platzbecker, Anne Hagemeijer, Ingrid Schmitt-Graeff and Michael Lübbert
    Citation: Clinical Epigenetics 2021 13:77

    The Correction to this article has been published in Clinical Epigenetics 2021 13:94

  28. Dysregulation of thymic stromal lymphopoietin (TSLP) expressions is linked to asthma and allergic disease. Exposure to phthalate esters, a widely used plasticizer, is associated with respiratory and allergic m...

    Authors: Wan-Ru Wang, Nai-Tzu Chen, Nai-Yun Hsu, I-Ying Kuo, Hsin-Wen Chang, Jiu-Yao Wang and Huey-Jen Su
    Citation: Clinical Epigenetics 2021 13:76
  29. The integration of different layers of omics information is an opportunity to tackle the complexity of cardiovascular diseases (CVD) and to identify new predictive biomarkers and potential therapeutic targets....

    Authors: Guillermo Palou-Márquez, Isaac Subirana, Lara Nonell, Alba Fernández-Sanlés and Roberto Elosua
    Citation: Clinical Epigenetics 2021 13:75
  30. Prenatal smoking exposure has been associated with childhood attention-deficit/hyperactivity disorder (ADHD). However, the mechanism underlying this relationship remains unclear. We assessed whether DNA methyl...

    Authors: Kunio Miyake, Chihiro Miyashita, Atsuko Ikeda-Araki, Ryu Miura, Sachiko Itoh, Keiko Yamazaki, Sumitaka Kobayashi, Hideyuki Masuda, Tadao Ooka, Zentaro Yamagata and Reiko Kishi
    Citation: Clinical Epigenetics 2021 13:74
  31. Parthenogenetic mosaicism is an extremely rare condition identified only in five subjects to date. The previous studies indicate that this condition is mediated by parthenogenetic activation and is free from a...

    Authors: Yohei Masunaga, Masayo Kagami, Fumiko Kato, Takeshi Usui, Takako Yonemoto, Kazuo Mishima, Maki Fukami, Kazushi Aoto, Hirotomo Saitsu and Tsutomu Ogata
    Citation: Clinical Epigenetics 2021 13:73
  32. The development of new biomarkers with diagnostic, prognostic and therapeutic prominence will greatly enhance the management of breast cancer (BC). Several reports suggest the involvement of the histone acetyl...

    Authors: Wafaa S. Ramadan, Iman M. Talaat, Mahmood Y. Hachim, Annette Lischka, Timo Gemoll and Raafat El-Awady
    Citation: Clinical Epigenetics 2021 13:72
  33. Testicular germ cell tumors (TGCTs) are among the most common solid malignancies in young-adult men, and currently most mortality is due to metastatic disease and emergence of resistance to cisplatin. There is...

    Authors: João Lobo, Vera Constâncio, Pedro Leite-Silva, Rita Guimarães, Mariana Cantante, Isaac Braga, Joaquina Maurício, Leendert H. J. Looijenga, Rui Henrique and Carmen Jerónimo
    Citation: Clinical Epigenetics 2021 13:70
  34. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Holly Russell, Katarzyna Kedzierska, Daniel D. Buchanan, Rachael Thomas, Emma Tham, Miriam Mints, Anne Keränen, Graham G. Giles, Melissa C. Southey, Roger L. Milne, Ian Tomlinson, David Church, Amanda B. Spurdle, Tracy A. O’Mara and Annabelle Lewis
    Citation: Clinical Epigenetics 2021 13:69

    The original article was published in Clinical Epigenetics 2020 12:102

  35. Poor family emotional health (FEH) during childhood is prevalent and impactful, and likely confers similar neurodevelopmental risks as other adverse social environments. Pointed FEH study efforts are underdeve...

    Authors: J. R. Pfeiffer, Angela C. Bustamante, Grace S. Kim, Don Armstrong, Annchen R. Knodt, Karestan C. Koenen, Ahmad R. Hariri and Monica Uddin
    Citation: Clinical Epigenetics 2021 13:68
  36. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Sara Gombert, Mathias Rhein, Andreas Winterpacht, Tino Münster, Thomas Hillemacher, Andreas Leffler and Helge Frieling
    Citation: Clinical Epigenetics 2021 13:67

    The original article was published in Clinical Epigenetics 2019 12:1

  37. Despite impressive efforts invested in epigenetic research in the last 50 years, clinical applications are still lacking. Only a few university hospital centers currently use epigenetic biomarkers at the bedsi...

    Authors: Federica Sarno, Giuditta Benincasa, Markus List, Albert-Lazlo Barabasi, Jan Baumbach, Fortunato Ciardiello, Sebastiano Filetti, Kimberly Glass, Joseph Loscalzo, Cinzia Marchese, Bradley A. Maron, Paola Paci, Paolo Parini, Enrico Petrillo, Edwin K. Silverman, Antonella Verrienti…
    Citation: Clinical Epigenetics 2021 13:66
  38. Several studies show that childhood and adulthood asthma and its symptoms can be modulated through epigenetic modifications. Epigenetic changes are inheritable modifications that can modify the gene expression...

    Authors: Mojgan Sheikhpour, Mobina Maleki, Maryam Ebrahimi Vargoorani and Vahid Amiri
    Citation: Clinical Epigenetics 2021 13:65
  39. Previous studies have shown that DNA methylation (DNAm) is associated with body mass index (BMI). However, it is unknown whether DNAm at pre-adolescence is associated with BMI status transition from pre- to po...

    Authors: Jiajing Wang, Hongmei Zhang, Faisal I. Rezwan, Caroline Relton, S. Hasan Arshad and John W. Holloway
    Citation: Clinical Epigenetics 2021 13:64
  40. Epigenetic alterations are known contributors to cancer development and aggressiveness. Additional to alterations in cancer cells, aberrant epigenetic marks are present in cells of the tumor microenvironment, ...

    Authors: Iris Lodewijk, Sandra P. Nunes, Rui Henrique, Carmen Jerónimo, Marta Dueñas and Jesús M. Paramio
    Citation: Clinical Epigenetics 2021 13:63
  41. Enhancer of zeste homolog 2 inhibitors (EZH2i) have garnered increased attention owing to their anticancer activity by targeting EZH2, a well-known cancer-promoting factor. However, some lymphomas are resistan...

    Authors: Chen Li, Yan Wang, Yueqing Gong, Tengrui Zhang, Jiaqi Huang, Zhen Tan and Lixiang Xue
    Citation: Clinical Epigenetics 2021 13:62
  42. Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the cardiac muscle, frequently caused by mutations in MYBPC3. However, little is known about the upstream pathways and key regulators causin...

    Authors: J. Pei, M. Schuldt, E. Nagyova, Z. Gu, S. el Bouhaddani, L. Yiangou, M. Jansen, J. J. A. Calis, L. M. Dorsch, C. Snijders Blok, N. A. M. van den Dungen, N. Lansu, B. J. Boukens, I. R. Efimov, M. Michels, M. C. Verhaar…
    Citation: Clinical Epigenetics 2021 13:61
  43. DNA methylation is a key epigenetic modification that can directly affect gene regulation. DNA methylation is highly influenced by environmental factors such as cigarette smoking, which is causally related to ...

    Authors: Chen Yao, Roby Joehanes, Rory Wilson, Toshiko Tanaka, Luigi Ferrucci, Anja Kretschmer, Holger Prokisch, Katharina Schramm, Christian Gieger, Annette Peters, Melanie Waldenberger, Carola Marzi, Christian Herder and Daniel Levy
    Citation: Clinical Epigenetics 2021 13:60
  44. Lead, a known neurotoxicant, has previously received attention in Parkinson’s disease (PD) research, but epidemiologic studies have been limited in sample size and findings are equivocal. We generated two meth...

    Authors: Kimberly C. Paul, Steve Horvath, Irish Del Rosario, Jeff M. Bronstein and Beate Ritz
    Citation: Clinical Epigenetics 2021 13:59
  45. Valproic acid (VPA) is one of the most commonly used anti-epileptic drugs with pharmacological actions on GABA and blocking voltage-gated ion channels. VPA also inhibits histone deacetylase (HDAC) activity. Su...

    Authors: Sebastian Lunke, Scott Maxwell, Ishant Khurana, Harikrishnan K.N., Jun Okabe, Keith Al-Hasani and Assam El-Osta
    Citation: Clinical Epigenetics 2021 13:58