Article
Oncology
Weili Yang, Chao Guo, James G. G. Herman, Cheng Zhu, Honghui Lv, Xiaomo Su, Lirong Zhang, Meiying Zhang, Mingzhou Guo
Summary: JAM3 is frequently methylated in human esophageal cancer and its expression is regulated by promoter region methylation. JAM3 methylation is an early detection and prognostic marker of esophageal cancer. JAM3 suppresses esophageal cancer growth by inhibiting Wnt signaling.
CLINICAL EPIGENETICS
(2022)
Article
Endocrinology & Metabolism
Ruchi Shah, Tanya M. Spektor, Daniel J. Weisenberger, Hui Ding, Rameshwar Patil, Cynthia Amador, Xue-Ying Song, Steven T. Chun, Jake Inzalaco, Sue Turjman, Sean Ghiam, Jiho Jeong-Kim, Sasha Tolstoff, Sabina V. Yampolsky, Onkar B. Sawant, Yaron S. Rabinowitz, Ezra Maguen, Pedram Hamrah, Clive N. Svendsen, Mehrnoosh Saghizadeh, Julia Y. Ljubimova, Andrei A. Kramerov, Alexander V. Ljubimov
Summary: This study identified epigenetic changes in diabetic corneas, including DNA methylation and miRNA action that inhibit WNT5A. Wnt-5a was found to stimulate corneal epithelial wound healing and improve stem cell expression in diabetic patients. Targeting Wnt-5a and DNA methylation could potentially improve corneal wound healing in diabetic individuals.
Article
Endocrinology & Metabolism
Qingliang Ma, Shiyu Wang, Ziang Xie, Yang Shen, Bingjie Zheng, Chao Jiang, Putao Yuan, Congcong Yu, Liangping Li, Xiangde Zhao, Junxin Chen, An Qin, Shunwu Fan, Zhiwei Jie
Summary: Osteoporosis, an age-related disease, can be attenuated by the pharmacological inhibition of SFRP1 using WAY, which leads to the suppression of osteoclastogenesis and bone resorption while promoting osteogenesis through dual modulation of canonical Wnt signaling pathway, suggesting a potential therapeutic approach.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Multidisciplinary Sciences
Ali Seifinejad, Mergim Ramosaj, Ling Shan, Sha Li, Marie-Laure Possovre, Corinne Pfister, Rolf Fronczek, Lee A. Garrett-Sinha, David Frieser, Makoto Honda, Yoan Arribat, Dogan Grepper, Francesca Amati, Marie Picot, Andrea Agnoletto, Christian Iseli, Nicolas Chartrel, Roland Liblau, Gert J. Lammers, Anne Vassalli, Mehdi Tafti
Summary: Narcolepsy with cataplexy is caused by deficiency in the neuropeptide hypocretin/orexin (HCRT), believed to result from autoimmune destruction of hypocretin-producing neurons. Loss of hypothalamic CRH-producing neurons suggests that mechanisms other than autoimmune attack are involved. HCRT, PDYN, and CRH are epigenetically silenced by hypothalamic inflammation in narcolepsy patients, without concurrent cell death. Methylation reversal may lead to a potential cure for narcolepsy.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Review
Endocrinology & Metabolism
Julian C. Lui, Jeffrey Baron
Summary: Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators. In this review, the genetics of these overgrowth disorders are discussed, along with possible common underlying mechanisms by which epigenetic pathways regulate human body size.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Biochemistry & Molecular Biology
Jasna Lojk, Janja Marc
Summary: The Wnt signalling pathway is crucial for bone development, homeostasis, and mineral density regulation. It includes both canonical/beta-catenin and non-canonical pathways, which play important roles in bone cell differentiation, maturation, and function, as well as in bone tissue structure regulation. Further research is needed to explore the significance of non-canonical Wnt signalling pathways in bone biology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Maria Rita Braghini, Oriana Lo Re, Ilaria Romito, Maite G. Fernandez-Barrena, Barbara Barbaro, Silvia Pomella, Rossella Rota, Manlio Vinciguerra, Matias A. Avila, Anna Alisi
Summary: Hepatocellular carcinoma (HCC) is the most frequent primary liver cancer, resulting from a unique combination of genetic alterations and epigenetic modifications. Epigenetic changes induce genomic instability prone to mutations and affect gene expression more extensively than genetic changes.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Zhongwei Li, Bingheng Li, Haiyuan Yu, Pengfei Wang, Wenwen Wang, Pingfu Hou, Minle Li, Sufang Chu, Junnian Zheng, Lijun Mao, Jin Bai
Summary: This study reveals the molecular interplay between DNA methyltransferase DNMT1 and histone methyltransferase EZH2 in the development and metastasis of prostate cancer. We found that high expression of DNMT1 promotes PC cell proliferation and migration by inhibiting TRAF6 transcriptional expression and TRAF6-mediated EZH2 ubiquitination. Our results also show that targeting DNMT1 with its inhibitor Decitabine can suppress tumor growth and metastasis through epigenetic regulation of DNMT1-mediated DNA methylation and EZH2-mediated histone methylation.
Review
Plant Sciences
Katie Jeynes-Cupper, Marco Catoni
Summary: Grafting, a technique used by humans for thousands of years, involves joining two different plants together to enhance plant production. This technique is gaining popularity in horticulture to increase crop yield and introduce beneficial traits. Research on model plants has shown the potential for molecular and phenotypic changes through long-distance signaling and epigenetic regulation. This review explores the connection between model plant research and crop species, analyzing the movement of signaling molecules and its implications on epigenetic regulation.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Abdulraheem Alshareef, Anthea C. Peters, Pascal Gelebart, Will Chen, Raymond Lai
Summary: The constitutive activation of the Wnt canonical pathway (WCP) in mantle cell lymphoma (MCL) is mainly due to gene methylation/silencing of WIF1, which promotes cell growth. Gene transfection of WIF1 into cells significantly reduces cell growth and results in downregulation of various proteins in WCP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Ewa Wolinska, Maciej Skrzypczak
Summary: Hepatocellular carcinoma (HCC) is a life-threatening disease with unsatisfactory treatment outcomes. Epigenetic studies have revealed modified methylation patterns in HCC, dysfunction of enzymes engaged in DNA methylation process, aberrant function of non-coding RNAs, and histone modifications affecting gene expression.
Article
Multidisciplinary Sciences
Sindhuja Devanapally, Pravrutha Raman, Mary Chey, Samual Allgood, Farida Ettefa, Maigane Diop, Yixin Lin, Yongyi E. Cho, Antony M. Jose
Summary: Stable epigenetic changes are relatively rare. The authors report that mating induces stable silencing of a single-copy transgene in C. elegans. Components of small RNA silencing are required for this stable silencing.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Jan Zimak, Zachary W. Wagoner, Nellie Nelson, Brooke Waechtler, Hana Schlosser, Morgan Kopecky, Jie Wu, Weian Zhao
Summary: Epigenetic silencing leads to loss of function in multi-transcript unit constructs integrated via CRISPR-Cas9. Expression heterogeneity is not correlated with sequence alteration but with chromosomal accessibility. Partial reversal of epigenetic silencing was achieved using small-molecule inhibitors.
SCIENTIFIC REPORTS
(2021)
Review
Veterinary Sciences
Rose Whelan, Sina Toenges, Florian Boehl, Frank Lyko
Summary: Biomarkers for holistic animal welfare monitoring are urgently needed in veterinary medicine. Epigenetic modifications, like DNA methylation, have great potential for biomarker development as they provide valuable information about cellular states and environments. This review discusses animal DNA methylation patterns, the technologies for analyzing them, and key frameworks for developing compound DNA methylation biomarkers, DNA methylation clocks, and environment-specific DNA methylation signatures. Practical examples of applying these biomarkers for health and environmental exposure monitoring are also provided. This article provides an overview of the molecular and biological foundations for developing epigenetic biomarkers in veterinary science and their potential in animal welfare monitoring.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Lucas B. Pontel, Alberto Bueno-Costa, Agustin E. Morellato, Juliana Carvalho Santos, Gael Roue, Manel Esteller
Summary: Blood-derived cancer cells are selectively sensitive to compounds blocking the GSH-dependent anti-ferroptosis axis, which may have therapeutic significance for ALL.
Editorial Material
Gastroenterology & Hepatology
Isabelle Chemin, Flor H. Pujol, Caroline Scholtes, Carmen L. Loureiro, Fouzia Amirache, Massimo Levrero, Fabien Zoulim, Jimena Perez-Vargas, Francois-Loic Cosset
Review
Oncology
Camila Martin Cardozo, Pierre Hainaut
Summary: Most viruses have evolved strategies to evade p53, a key cellular defense mechanism. Different viruses use hit and run, hide and seek, kidnap and exploit, or dominate and suppress tactics against p53. SARS-CoV targets p53 for degradation, potentially impacting Covid-19 pathogenesis and cancer risk.
CURRENT OPINION IN ONCOLOGY
(2021)
Editorial Material
Oncology
Pierre Hainaut, Paolo Boffetta
CURRENT OPINION IN ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Dariush Nasrollahzadeh, Gholamreza Roshandel, Tiffany Myriam Delhomme, Patrice Hodonou Avogbe, Matthieu Foll, Farrokh Saidi, Hossein Poustchi, Masoud Sotoudeh, Reza Malekzadeh, Paul Brennan, James Mckay, Pierre Hainaut, Behnoush Abedi-Ardekani
Summary: Circulating cell-free DNA (cfDNA) is being recognized as a potential tumor biomarker, requiring high volumes of good quality plasma for extraction. Studies in high-risk areas of the Asian cancer belt show a certain concordance of TP53 gene mutations between tumor tissue and cfDNA extracted from archival serum, but the challenges lie in the high number of non-identifiable mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Alexandre Perrier, Pierre Hainaut, Pierre-Jean Lamy, Alexandre Guenoun, Dinh-Phong Nguyen, Fabrice Guerber, Frederic Troalen, Jerome Alexandre Denis, Mathieu Boissan
Summary: The concept of tumor markers has undergone profound changes with the development of high-throughput sequencing technology. Traditional tumor markers are still valuable for prognosis evaluation, treatment selection and optimization, as well as treatment effectiveness monitoring.
BULLETIN DU CANCER
(2022)
Article
Oncology
Christian P. Kratz, Claire Freycon, Kara N. Maxwell, Kim E. Nichols, Joshua D. Schiffman, D. Gareth Evans, Maria Achatz, Sharon A. Savage, Jeffrey N. Weitzel, Judy E. Garber, Pierre Hainaut, David Malkin
Summary: The study defines and classifies the phenotypic spectrum of Li-Fraumeni syndrome, providing insights into variant distribution and cancer characteristics in patients meeting different testing criteria. The new classification, Li-Fraumeni spectrum, may help understand phenotypic differences in cancer predisposition syndromes and serve as a model for further studies.
Article
Biochemistry & Molecular Biology
Kelvin Cesar de Andrade, Elaine E. Lee, Elise M. Tookmanian, Chimene A. Kesserwan, James J. Manfredi, Jessica N. Hatton, Jennifer K. Loukissas, Jiri Zavadil, Lei Zhou, Magali Olivier, Megan N. Frone, Owais Shahzada, William J. R. Longabaugh, Christian P. Kratz, David Malkin, Pierre Hainaut, Sharon A. Savage
CELL DEATH AND DIFFERENTIATION
(2022)
Editorial Material
Oncology
Pierre Hainaut
CURRENT OPINION IN ONCOLOGY
(2022)
Editorial Material
Microbiology
Isabelle Chemin, Flor Helene Pujol
Letter
Oncology
Judith Penkert, Farina J. Struewe, Christina M. Dutzmann, Beate B. Doergeloh, Emilie Montellier, Claire Freycon, Myriam Keymling, Heinz-Peter Schlemmer, Birte Saenger, Beatrice Hoffmann, Tanja Gerasimov, Claudia Blattmann, Sebastian Fetscher, Michael Fruhwald, Simone Hettmer, Uwe Kordes, Vita Ridola, Sabine Kroiss Benninger, Angela Mastronuzzi, Sarah Schott, Juliane Nees, Aram Prokop, Antje Redlich, Markus G. Seidel, Stefanie Zimmermann, Kristian W. Pajtler, Stefan M. Pfister, Pierre Hainaut, Christian P. Kratz
Summary: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants, with high risk of developing cancer. The study found that the occurrence of NULL variants were significantly higher in LFS families compared to attenuated LFS families, and there are genotype-phenotype correlations in different types of pathogenic variants and cancer types.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2022)
Review
Oncology
Alexia Paturel, Janet Hall, Isabelle Chemin
Summary: Liver cancer is a major public health problem with high incidence and mortality rates. There is an urgent need to find new treatment targets, and this review provides an overview of one potential target, poly(ADP)ribose polymerase 1 (PARP1). Inhibition of PARP1 could enhance the effects of current treatments and improve therapeutic outcomes for liver cancer patients. Hepatocellular carcinoma (HCC) is the most common form of liver cancer, with viral infections being the most frequent cause. Few treatment options exist for advanced or terminal-stage HCC, and radiotherapy is not commonly used. However, PARP inhibitors and decoys show promise in the treatment of HCC, particularly in HBV-related cases.
Article
Oncology
Christian P. Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jaeger, Sebastian M. Waszak, Anika Grosshennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M. Pfister, Holger Prokisch, Tim Ripperger, David Malkin
Summary: This study investigated the role of BRCA1, BRCA2, and mismatch repair genes in the risk of childhood and adolescent cancer. The results showed significant associations between pathogenic variants in these genes and the occurrence of certain tumors, but not with hematologic neoplasms. These findings provide new evidence for predictive genetic testing and surveillance.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
Review
Microbiology
Amie Ceesay, Khaled Bouherrou, Boun Kim Tan, Maud Lemoine, Gibril Ndow, Barbara Testoni, Isabelle Chemin
Summary: To achieve the WHO's goals of eradicating viral hepatitis globally, it is necessary to know the regional prevalence and epidemiology of HBV and HDV coinfection in order to implement preventive and treatment strategies. HBV/HDV coinfection is considered the most severe form of viral hepatitis and simplified diagnostics tools are crucial for screening and monitoring these patients. More accessible and affordable alternative methods, such as RDTs, are being developed for specific detection of HBV and HDV.
Review
Microbiology
Rayana Maryse Toye, Carmen Luisa Loureiro, Rossana Celeste Jaspe, Fabien Zoulim, Flor Helene Pujol, Isabelle Chemin
Summary: HBV genotypes E to J are understudied and have specific distributions across different regions. Genotype F is the most divergent and has further subgenotypes. There is a lack of data from sub-Saharan Africa and Latin America due to under-representation in clinical and research cohorts.
Article
Oncology
Alexandre Perrier, Pierre Hainaut, Alexandre Guenoun, Dinh-Phong Nguyen, Pierre-Jean Lamy, Fabrice Guerber, Frederic Troalen, Jerome Alexandre Denis, Mathieu Boissan
Summary: Technological advancements, particularly high-throughput sequencing, have led to the emergence of a new generation of molecular biomarkers for tumors. Liquid biopsies, which involve the detection of circulating tumor cells and/or circulating tumor DNA in blood samples, provide a genetic snapshot of the patient's tumor and facilitate real-time monitoring of the disease. These new approaches require the processing of large amounts of clinical data and the use of artificial intelligence, but also raise ethical concerns and implications for the healthcare system.
BULLETIN DU CANCER
(2022)