Oussalah, Abderrahim Siblini, Youssef Hergalant, Sébastien Chéry, Céline Rouyer, Pierre Cavicchi, Catia Guerrini, Renzo Morange, Pierre-Emmanuel Trégouët, David Pupavac, Mihaela
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Published in
Clinical Epigenetics
Background epi- cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to CCDC163P and MMACHC , which results from an aberrant antisense transcription due to splicing mutations in the antis...
Costes, Valentin Chaulot-Talmon, Aurélie Sellem, Eli Perrier, Jean-Philippe Aubert-Frambourg, Anne Jouneau, Luc Pontlevoy, Charline Hozé, Chris Fritz, Sébastien Boussaha, Mekki
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Published in
Clinical epigenetics
Conflicting results regarding alterations to sperm DNA methylation in cases of spermatogenesis defects, male infertility and poor developmental outcomes have been reported in humans. Bulls used for artificial insemination represent a relevant model in this field, as the broad dissemination of bull semen considerably alleviates confounding factors a...
Huang, Chia-Hung Chang, Man-Chen Lai, Yung-Chun Lin, Chun-Yen Hsu, Cho-Hsien Tseng, Bo-Yuan Hsiao, Chuhsing Kate Lu, Tzu-Pin Yu, Sung-Liang Hsieh, Sung-Tsang
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Published in
Clinical Epigenetics
Background Despite the brain’s high demand for energy, research on its epigenetics focuses on nuclear methylation, and much of the mitochondrial DNA methylation remains seldom investigated. With a focus on the nucleus accumbens (NAcc) and the prefrontal cortex (PFC), we aimed to identify the mitochondrial methylation signatures for (1) distinguishi...
Ryan, Calen P. Rege, Raviraj J. Lee, Nanette R. Carba, Delia B. Kobor, Michael S. MacIsaac, Julie L. Lin, David S. Atashzay, Parmida Kuzawa, Christopher W.
Published in
Clinical Epigenetics
Adverse birth outcomes, such as early gestational age and low birth weight, can have lasting effects on morbidity and mortality, with impacts that persist into adulthood. Identifying the maternal factors that contribute to adverse birth outcomes in the next generation is thus a priority. Epigenetic clocks, which have emerged as powerful tools for q...
Pinto, Rita Hauge, Tobias Jeanmougin, Marine Pharo, Heidi D. Kresse, Stine H. Honne, Hilde Winge, Sara B. Five, May-Britt Kumar, Theresa Mala, Tom
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Published in
Clinical Epigenetics
Background Despite the efforts to describe the molecular landscape of esophageal adenocarcinoma (EAC) and its precursor lesion Barrett’s esophagus (BE), discrepant findings are reported. Here, we investigated the prevalence of selected genetic ( TP53 mutations and microsatellite instability (MSI) status) and epigenetic (DNA promoter hypermethylatio...
Lo, Yun-Hsiang Lin, Wan-Yu
Published in
Clinical epigenetics
Cardiovascular health (CVH) was defined by the American Heart Association as an integrative idealness of seven clinical or lifestyle factors. Based on populations of European ancestry, recent studies have shown that ideal CVH is associated with a slower aging rate. The aging rate is measured by levels of epigenetic age acceleration (EAA), usually o...
Lu, Huaiwu Liu, Yunyun Wang, Jingyu Fu, Shaliu Wang, Lingping Huang, Chunxian Li, Jing Xie, Lingling Wang, Dongyan Li, Dan
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Published in
Clinical epigenetics
Ovarian cancer (OC) is a highly lethal gynecologic cancer, and it is hard to diagnose at an early stage. Clinically, there are no ovarian cancer-specific markers for early detection. Here, we demonstrate the use of cell-free DNA (cfDNA) methylomes to detect ovarian cancer, especially the early-stage OC. Plasma from 74 epithelial ovarian cancer pati...
Domingo-Relloso, Arce Riffo-Campos, Angela L Powers, Martha Tellez-Plaza, Maria Haack, Karin Brown, Robert H Umans, Jason G Fallin, M Daniele Cole, Shelley A Navas-Acien, Ana
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Published in
Clinical epigenetics
Epigenetic modifications, including DNA methylation (DNAm), are often related to environmental exposures, and are increasingly recognized as key processes in the pathogenesis of chronic lung disease. American Indian communities have a high burden of lung disease compared to the national average. The objective of this study was to investigate the as...
Komaki, Shohei Ohmomo, Hideki Hachiya, Tsuyoshi Sutoh, Yoichi Ono, Kanako Furukawa, Ryohei Umekage, So Otsuka-Yamasaki, Yayoi Minabe, Shiori Takashima, Akira
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Published in
Clinical epigenetics
Considerable effort has been spent on lowering and maintaining the epigenetic age. However, the extent to which epigenetic age fluctuates under normal conditions is poorly understood. Therefore, we analyzed methylation data from monocytes and peripheral blood mononuclear cells collected from two Japanese men. The ranges of the Pan-tissue, Skin and ...
Pignata, Laura Cecere, Francesco Verma, Ankit Hay Mele, Bruno Monticelli, Maria Acurzio, Basilia Giaccari, Carlo Sparago, Angela Hernandez Mora, Jose Ramon Monteagudo-Sánchez, Ana
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Published in
Clinical epigenetics
Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15.5 and 20q13.32, respectively. In both of these diseases a subset of the patients is affected by multi-locus imprinting disturbances (MLID). In several families, MLID is a...
