Articles

High-throughput and affordable genome-wide methylation profiling of circulating cell-free DNA by methylated DNA sequencing (MeD-seq) of LpnPI digested fragments

DNA methylation detection in liquid biopsies provides a highly promising and much needed means for real-time monitoring of disease load in advanced cancer patient care. Compared to the often-used somatic mutat...

Authors: Teoman Deger, Ruben G. Boers, Vanja de Weerd, Lindsay Angus, Marjolijn M. J. van der Put, Joachim B. Boers, Z. Azmani, Wilfred F. J. van IJcken, Dirk J. Grünhagen, Lisanne F. van Dessel, Martijn P. J. K. Lolkema, Cornelis Verhoef, Stefan Sleijfer, John W. M. Martens, Joost Gribnau and Saskia M. Wilting

Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals

The prevalence of obesity and its related chronic diseases have been increasing especially in Asian countries. Obesity-related genetic variants have been identified, but these explain little of the variation i...

Authors: Yuqing Chen, Irfahan Kassam, Suk Hiang Lau, Jaspal S. Kooner, Rory Wilson, Annette Peters, Juliane Winkelmann, John C. Chambers, Vincent T. Chow, Chiea Chuen Khor, Rob M. van Dam, Yik-Ying Teo, Marie Loh and Xueling Sim

Correction to: Chromatin insulation dynamics in glioblastoma: challenges and future perspectives of precision oncology

Authors: Borja Sesé, Miquel Ensenyat-Mendez, Sandra Iñiguez, Pere Llinàs-Arias and Diego M. Marzese

Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA

Methylation analysis of circulating cell-free DNA (cirDNA), as a liquid biopsy, has a significant potential to advance the detection, prognosis, and treatment of cancer, as well as many genetic disorders. The ...

Authors: Mohammad Amin Kerachian, Marjan Azghandi, Sina Mozaffari-Jovin and Alain R. Thierry

SETD2-mediated epigenetic regulation of noncanonical Wnt5A during osteoclastogenesis

To define the role of SETD2 in the WNT5a signaling in the context of osteoclastogenesis, we exploited two different models: in vitro osteoclast differentiation, and K/BxN serum-induced arthritis model. We foun...

Authors: Moonmoon Deb, Dipranjan Laha, Jyotirindra Maity and Hiranmoy Das

Association of peripheral blood DNA methylation level with Alzheimer’s disease progression

Identifying biomarkers associated with Alzheimer’s disease (AD) progression may enable patient enrichment and improve clinical trial designs. Epigenome-wide association studies have revealed correlations betwe...

Authors: Qingqin S. Li, Aparna Vasanthakumar, Justin W. Davis, Kenneth B. Idler, Kwangsik Nho, Jeffrey F. Waring and Andrew J. Saykin

DNA methylation-based profiling reveals distinct clusters with survival heterogeneity in high-grade serous ovarian cancer

High-grade serous ovarian cancer (HGSOC) is the most common type of epigenetically heterogeneous ovarian cancer. Methylation typing has previously been used in many tumour types but not in HGSOC. Methylation t...

Authors: Jieyu Wang, Jun Li, Ruifang Chen, Huiran Yue, Wenzhi Li, Beibei Wu, Yang Bai, Guohua Zhu and Xin Lu

Distinguishable DNA methylation defines disease susceptibility influenced by race and ethnicity

Authors: Jairo A. Pinzon Cortes and Assam El-Osta

Race/ethnicity-associated blood DNA methylation differences between Japanese and European American women: an exploratory study

Racial/ethnic disparities in health reflect a combination of genetic and environmental causes, and DNA methylation may be an important mediator. We compared in an exploratory manner the blood DNA methylome of ...

Authors: Min-Ae Song, Anna Eames Seffernick, Kellie J. Archer, Kellie M. Mori, Song-Yi Park, Linda Chang, Thomas Ernst, Maarit Tiirikainen, Karolina Peplowska, Lynne R. Wilkens, Loïc Le Marchand and Unhee Lim

Epigenetic targeting of the ACE2 and NRP1 viral receptors limits SARS-CoV-2 infectivity

SARS-CoV-2 uses the angiotensin-converting enzyme 2 (ACE2) and neuropilin-1 (NRP1) receptors for entry into cells, and the serine protease TMPRSS2 for S protein priming. Inhibition of protease activity or the ...

Authors: Maria Laura Saiz, Marta L. De Diego, Darío López-García, Viviana Corte-Iglesias, Aroa Baragaño Raneros, Ivan Astola, Victor Asensi, Carlos López-Larrea and Beatriz Suarez-Alvarez

DNA methylation signatures of incident coronary heart disease: findings from epigenome-wide association studies

Coronary heart disease (CHD) is a type of cardiovascular disease (CVD) that affects the coronary arteries, which provide oxygenated blood to the heart. It is a major cause of mortality worldwide. Various predi...

Authors: Yujing Xia, Alison Brewer and Jordana T. Bell

Diagnosis of pulmonary nodules by DNA methylation analysis in bronchoalveolar lavage fluids

Lung cancer is the leading cause of cancer-related mortality. The alteration of DNA methylation plays a major role in the development of lung cancer. Methylation biomarkers become a possible method for lung ca...

Authors: Lei Li, Zhujia Ye, Sai Yang, Hao Yang, Jing Jin, Yingying Zhu, Jinsheng Tao, Siyu Chen, Jiehan Xu, Yanying Liu, Weihe Liang, Bo Wang, Mengzhu Yang, Qiaoyun Huang, Zhiwei Chen, Weimin Li…

DNA methylation profiling identifies two distinct subgroups in breast cancers with low hormone receptor expression, mainly associated with HER2 amplification status

Current clinical guidelines suggest that breast cancers with low hormone receptor expression (LowHR) in 1–10% of tumor cells should be regarded as hormone receptor positive. However, clinical data show that th...

Authors: Philipp Jurmeister, Karsten Weber, Sonia Villegas, Thomas Karn, Michael Untch, Anne Thieme, Volkmar Müller, Eliane Taube, Peter Fasching, Wolfgang D. Schmitt, Frederik Marmé, Elmar Stickeler, Bruno V. Sinn, Paul Jank, Christian Schem, Frederick Klauschen…

Investigating the DNA methylation profile of e-cigarette use

Little evidence exists on the health effects of e-cigarette use. DNA methylation may serve as a biomarker for exposure and could be predictive of future health risk. We aimed to investigate the DNA methylation...

Authors: Rebecca C. Richmond, Carlos Sillero-Rejon, Jasmine N. Khouja, Claire Prince, Alexander Board, Gemma Sharp, Matthew Suderman, Caroline L. Relton, Marcus Munafò and Suzanne H. Gage

Histone H3 lysine 27 acetylation profile undergoes two global shifts in undernourished children and suggests altered one-carbon metabolism

Stunting is a condition in which a child does not reach their full growth potential due to chronic undernutrition. It arises during the first 2 years of a child’s life and is associated with developmental defi...

Authors: Kristyna Kupkova, Savera J. Shetty, Rashidul Haque, William A. Petri Jr. and David T. Auble

Combined effects of progesterone and SOCS3 DNA methylation on T2DM: a case–control study

This study aims to investigate the independent and combined effects of progesterone and suppressor of cytokine signaling (SOCS)-3 DNA methylation on type 2 diabetes mellitus (T2DM) among men and postmenopausal wo...

Authors: Lulu Wang, Zhenxing Mao, Xiaotian Liu, Dandan Wei, Pengling Liu, Luting Nie, Keliang Fan, Ning Kang, Yu Song, Qingqing Xu, Juan Wang, Mian Wang, Wei Liao, Tao Jing, Wenjie Li, Chongjian Wang…

Prenatal and postnatal traffic pollution exposure, DNA methylation in Shank3 and MeCP2 promoter regions, H3K4me3 and H3K27me3 and sociability in rats’ offspring

Road traffic air pollution is linked with an increased risk of autistic spectrum disorder (ASD). The aim of this study is to assess the effect of exposure to prenatal or postnatal traffic-related air pollution...

Authors: Qinfeng Zhou, Yu Tian, Chenlu Xu, Juling Wang and Yongtang Jin

Integrative genomics analysis of nasal intestinal-type adenocarcinomas demonstrates the major role of CACNA1C and paves the way for a simple diagnostic tool in male woodworkers

Nasal intestinal-type adenocarcinomas (ITAC) are strongly related to chronic wood dust exposure: The intestinal phenotype relies on CDX2 overexpression but underlying molecular mechanisms remain unknown. Our o...

Authors: Patrice Gallet, Abderrahim Oussalah, Celso Pouget, Gunnar Dittmar, Celine Chery, Guillaume Gauchotte, Roger Jankowski, Jean Louis Gueant and Rémi Houlgatte

Correction to: Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction

Authors: Carla Debernardi, Laura Libera, Enrico Berrino, Nora Sahnane, Anna Maria Chiaravalli, Cristiana Laudi, Mattia Berselli, Anna Sapino, Fausto Sessa, Tiziana Venesio and Daniela Furlan

Impact of vitamin C supplementation on placental DNA methylation changes related to maternal smoking: association with gene expression and respiratory outcomes

Maternal smoking during pregnancy (MSDP) affects development of multiple organ systems including the placenta, lung, brain, and vasculature. In particular, children exposed to MSDP show lifelong deficits in pu...

Authors: Lyndsey E. Shorey-Kendrick, Cindy T. McEvoy, Shannon M. O’Sullivan, Kristin Milner, Brittany Vuylsteke, Robert S. Tepper, David M. Haas, Byung Park, Lina Gao, Annette Vu, Cynthia D. Morris and Eliot R. Spindel

DNA 5-hydroxymethylcytosine in pediatric central nervous system tumors may impact tumor classification and is a positive prognostic marker

Nucleotide-specific 5-hydroxymethylcytosine (5hmC) remains understudied in pediatric central nervous system (CNS) tumors. 5hmC is abundant in the brain, and alterations to 5hmC in adult CNS tumors have been re...

Authors: Nasim Azizgolshani, Curtis L. Petersen, Youdinghuan Chen, Joshua J. Levy, Lucas A. Salas, Laurent Perreard, Lananh N. Nguyen and Brock C. Christensen

Hi-C profiling of cancer spheroids identifies 3D-growth-specific chromatin interactions in breast cancer endocrine resistance

Organoids or spheroids have emerged as a physiologically relevant in vitro preclinical model to study patient-specific diseases. A recent study used spheroids of MCF10 cells to model breast cancer progression ...

Authors: Jingwei Li, Kun Fang, Lavanya Choppavarapu, Ke Yang, Yini Yang, Junbai Wang, Ruifeng Cao, Ismail Jatoi and Victor X. Jin

Targeting the methyltransferase SETD8 impairs tumor cell survival and overcomes drug resistance independently of p53 status in multiple myeloma

Multiple myeloma (MM) is a malignancy of plasma cells that largely remains incurable. The search for new therapeutic targets is therefore essential. In addition to a wide panel of genetic mutations, epigenetic...

Authors: Laurie Herviou, Sara Ovejero, Fanny Izard, Ouissem Karmous-Gadacha, Claire Gourzones, Celine Bellanger, Eva De Smedt, Anqi Ma, Laure Vincent, Guillaume Cartron, Jian Jin, Elke De Bruyne, Charlotte Grimaud, Eric Julien and Jérôme Moreaux

METTL3-dependent MALAT1 delocalization drives c-Myc induction in thymic epithelial tumors

Thymic epithelial tumors (TETs) are rare neoplasms, originating from epithelial thymic cells. The oncogenic potential of these rare neoplasms is still largely undefined, and a deeper molecular characterization...

Authors: Alessia Iaiza, Claudia Tito, Zaira Ianniello, Federica Ganci, Valentina Laquintana, Enzo Gallo, Andrea Sacconi, Silvia Masciarelli, Luciana De Angelis, Sara Aversa, Daniele Diso, Marco Anile, Vincenzo Petrozza, Francesco Facciolo, Enrico Melis, Edoardo Pescarmona…

Impact of molecular surgical margin analysis on the prediction of pancreatic cancer recurrences after pancreaticoduodenectomy

Pancreatic cancer is one of the lethal cancers among solid malignancies. Pathological diagnosis of surgical margins is sometimes unreliable due to tissue shrinkage, invisible field cancerization and skipped le...

Authors: Yuki Sunagawa, Masamichi Hayashi, Suguru Yamada, Hiroshi Tanabe, Keisuke Kurimoto, Nobutake Tanaka, Fuminori Sonohara, Yoshikuni Inokawa, Hideki Takami, Mitsuro Kanda, Chie Tanaka, Goro Nakayama, Masahiko Koike and Yasuhiro Kodera

Prenatal risk factors and neonatal DNA methylation in very preterm infants

Prenatal risk factors are related to poor health and developmental outcomes for infants, potentially via epigenetic mechanisms. We tested associations between person-centered prenatal risk profiles, cumulative...

Authors: Marie Camerota, Stefan Graw, Todd M. Everson, Elisabeth C. McGowan, Julie A. Hofheimer, T. Michael O’Shea, Brian S. Carter, Jennifer B. Helderman, Jennifer Check, Charles R. Neal, Steven L. Pastyrnak, Lynne M. Smith, Lynne M. Dansereau, Sheri A. DellaGrotta, Carmen J. Marsit and Barry M. Lester

Cellular reprogramming and epigenetic rejuvenation

Ageing is an inevitable condition that afflicts all humans. Recent achievements, such as the generation of induced pluripotent stem cells, have delivered preliminary evidence that slowing down and reversing th...

Authors: Daniel J. Simpson, Nelly N. Olova and Tamir Chandra

Dynamics of epigenetic regulator gene BCOR mutation and response predictive value for hypomethylating agents in patients with myelodysplastic syndrome

BCOR (BCL6 corepressor) is an epigenetic regulator gene involved in the specification of cell differentiation and body structure development. Recurrent somatic BCOR mutations have been identified in myelodyspl...

Authors: Xiao Li, Feng Xu, Zheng Zhang, Juan Guo, Qi He, Lu-Xi Song, Dong Wu, Li-Yu Zhou, Ji-Ying Su, Chao Xiao, Chun-Kang Chang and Ling-Yun Wu

Longitudinal analysis of individual cfDNA methylome patterns in metastatic prostate cancer

Disease progression and therapeutic resistance are hallmarks of advanced stage prostate cancer (PCa), which remains a major cause of cancer-related mortality around the world. Longitudinal studies, coupled wit...

Authors: Romina Silva, Bruce Moran, Anne-Marie Baird, Colm J. O’Rourke, Stephen P. Finn, Ray McDermott, William Watson, William M. Gallagher, Donal J. Brennan and Antoinette S. Perry

Transcriptional epigenetic regulation of Fkbp1/Pax9 genes is associated with impaired sensitivity to platinum treatment in ovarian cancer

In an effort to contribute to overcoming the platinum resistance exhibited by most solid tumors, we performed an array of epigenetic approaches, integrating next-generation methodologies and public clinical da...

Authors: Javier Andrés Soto, Carlos Rodríguez-Antolín, Olga Vera, Olga Pernía, Isabel Esteban-Rodríguez, Maria Dolores Diestro, Javier Benitez, Fátima Sánchez-Cabo, Rafael Alvarez, Javier De Castro and Inmaculada Ibanez de Cáceres

DNA methyltransferase inhibitors combination therapy for the treatment of solid tumor: mechanism and clinical application

DNA methylation, an epigenetic modification, regulates gene transcription and maintains genome stability. DNA methyltransferase (DNMT) inhibitors can activate silenced genes at low doses and cause cytotoxicity...

Authors: Chunhong Hu, Xiaohan Liu, Yue Zeng, Junqi Liu and Fang Wu

Betamethasone administration during pregnancy is associated with placental epigenetic changes with implications for inflammation

Glucocorticoids (GCs) play a pivotal role in fetal programming. Antenatal treatment with synthetic GCs (sGCs) in individuals in danger of preterm labor is common practice. Adverse short- and long-term effects ...

Authors: Darina Czamara, Linda Dieckmann, Simone Röh, Sarah Kraemer, Rebecca C. Rancourt, Sara Sammallahti, Eero Kajantie, Hannele Laivuori, Johan G. Eriksson, Katri Räikkönen, Wolfgang Henrich, Andreas Plagemann, Elisabeth B. Binder, Thorsten Braun and Sonja Entringer

Pre-implantation alcohol exposure induces lasting sex-specific DNA methylation programming errors in the developing forebrain

Prenatal alcohol exposure is recognized for altering DNA methylation profiles of brain cells during development, and to be part of the molecular basis underpinning Fetal Alcohol Spectrum Disorder (FASD) etiolo...

Authors: L. M. Legault, K. Doiron, M. Breton-Larrivée, A. Langford-Avelar, A. Lemieux, M. Caron, L. A. Jerome-Majewska, D. Sinnett and S. McGraw

Epigenetic age is associated with baseline and 3-year change in frailty in the Canadian Longitudinal Study on Aging

The trajectory of frailty in older adults is important to public health; therefore, markers that may help predict this and other important outcomes could be beneficial. Epigenetic clocks have been developed an...

Authors: Chris P. Verschoor, David T. S. Lin, Michael S. Kobor, Oxana Mian, Jinhui Ma, Guillaume Pare and Gustavo Ybazeta

Identifying causal models between genetically regulated methylation patterns and gene expression in healthy colon tissue

DNA methylation is involved in the regulation of gene expression and phenotypic variation, but the inter-relationship between genetic variation, DNA methylation and gene expression remains poorly understood. H...

Authors: Anna Díez-Villanueva, Mireia Jordà, Robert Carreras-Torres, Henar Alonso, David Cordero, Elisabet Guinó, Xavier Sanjuan, Cristina Santos, Ramón Salazar, Rebeca Sanz-Pamplona and Victor Moreno

DNA methylome profiling reveals epigenetic regulation of lipoprotein-associated phospholipase A₂ in human vulnerable atherosclerotic plaque

Atherosclerotic plaque vulnerability is a key feature of atheroprogression and precipitating acute cardiovascular events. Although the pivotal role of epigenetic regulation in atherosclerotic plaque destabiliz...

Authors: Jingjin Li, Xiaoping Zhang, Mengxi Yang, Hang Yang, Ning Xu, Xueqiang Fan, Gang Liu, Xintong Jiang, Jiasai Fan, Lifang Zhang, Hu Zhang, Ying Zhou, Rui Li, Si Gao, Jiangli Jin, Zening Jin…

Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes

Several studies have reported an association between male infertility and aberrant sperm DNA methylation patterns, in particular in imprinted genes. In a recent investigation based on whole methylome and deep ...

Authors: Sara Di Persio, Elsa Leitão, Marius Wöste, Tobias Tekath, Jann-Frederik Cremers, Martin Dugas, Xiaolin Li, Gerd Meyer zu Hörste, Sabine Kliesch, Sandra Laurentino, Nina Neuhaus and Bernhard Horsthemke

DNA methylation patterns at and beyond the histological margin of early-stage invasive lung adenocarcinoma radiologically manifested as pure ground-glass opacity

Early-stage lung cancers radiologically manifested as ground-glass opacities (GGOs) have been increasingly identified, among which pure GGO (pGGO) has a good prognosis after local resection. However, the optim...

Authors: Ziqi Jia, Yadong Wang, Jianchao Xue, Xiaoying Yang, Zhongxing Bing, Chao Guo, Chao Gao, Zhenhuan Tian, Zhenzhen Zhang, Hualei Kong, Qiye He, Zhixi Su, Yiying Liu, Yang Song, Dianjing Liang, Naixin Liang…

Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory

Prader–Willi syndrome is a rare genetic neurodevelopmental disorder caused by a paternal deficiency of maternally imprinted gene expression located in the chromosome 15q11–q13 region. Previous studies have dem...

Authors: Juliette Salles, Sanaa Eddiry, Emmanuelle Lacassagne, Virginie Laurier, Catherine Molinas, Éric Bieth, Nicolas Franchitto, Jean-Pierre Salles and Maithé Tauber

A targeted multi-omics approach reveals paraoxonase-1 as a determinant of obesity-associated fatty liver disease

The multifactorial nature of non-alcoholic fatty liver disease cannot be explained solely by genetic factors. Recent evidence revealed that DNA methylation changes take place at proximal promoters within susce...

Authors: Sara Diels, Bart Cuypers, Asta Tvarijonaviciute, Bruno Derudas, Evelien Van Dijck, An Verrijken, Luc F. Van Gaal, Kris Laukens, Philippe Lefebvre, Jose J. Ceron, Sven Francque, Wim Vanden Berghe and Wim Van Hul

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygo...

Authors: Andrea Ciolfi, Aidin Foroutan, Alessandro Capuano, Lucia Pedace, Lorena Travaglini, Simone Pizzi, Marco Andreani, Evelina Miele, Federica Invernizzi, Chiara Reale, Celeste Panteghini, Maria Iascone, Marcello Niceta, Ralitza H. Gavrilova, Laura Schultz-Rogers, Emanuele Agolini…

PRC2: an epigenetic multiprotein complex with a key role in the development of rhabdomyosarcoma carcinogenesis

Skeletal muscle formation represents a complex of highly organized and specialized systems that are still not fully understood. Epigenetic systems underline embryonic development, maintenance of stemness, and ...

Authors: Stefano Zoroddu, Irene Marchesi and Luigi Bagella

Childhood growth and development and DNA methylation age in mid-life

In the first study of its kind, we examine the association between growth and development in early life and DNAm age biomarkers in mid-life.

Authors: Jane Maddock, Juan Castillo-Fernandez, Andrew Wong, George B. Ploubidis, Diana Kuh, Jordana T. Bell and Rebecca Hardy

Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction

Aberrant DNA hypomethylation of the long interspersed nuclear elements (LINE-1 or L1) has been recognized as an early event of colorectal transformation. Simultaneous genetic and epigenetic analysis of colorec...

Authors: Carla Debernardi, Laura Libera, Enrico Berrino, Nora Sahnane, Anna Maria Chiaravalli, Cristiana Laudi, Mattia Berselli, Anna Sapino, Fausto Sessa, Tiziana Venesio and Daniela Furlan

Differential DNA methylation and changing cell-type proportions as fibrotic stage progresses in NAFLD

Non-alcoholic fatty liver disease (NAFLD) is characterized by changes in cell composition that occur throughout disease pathogenesis, which includes the development of fibrosis in a subset of patients. DNA met...

Authors: Nicholas D. Johnson, Xiumei Wu, Christopher D. Still, Xin Chu, Anthony T. Petrick, Glenn S. Gerhard, Karen N. Conneely and Johanna K. DiStefano

Correction to: Genome-wide DNA methylome analysis identifies methylation signatures associated with survival and drug resistance of ovarian cancers

Authors: David W. Chan, Wai-Yip Lam, Fushun Chen, Mingo M. H. Yung, Yau-Sang Chan, Wai-Sun Chan, Fangfang He, Stephanie S. Liu, Karen K. L. Chan, Benjamin Li and Hextan Y. S. Ngan

Chromatin insulation dynamics in glioblastoma: challenges and future perspectives of precision oncology

Glioblastoma (GBM) is the most aggressive primary brain tumor, having a poor prognosis and a median overall survival of less than two years. Over the last decade, numerous findings regarding the distinct molec...

Authors: Borja Sesé, Miquel Ensenyat-Mendez, Sandra Iñiguez, Pere Llinàs-Arias and Diego M. Marzese

Interplay of Val66Met and BDNF methylation: effect on reward learning and cognitive performance in major depression

There is a growing interest in the role of brain-derived neurotrophic factor (BDNF) in major depressive disorder (MDD). BDNF potentially exhibits opposite effects in the pathways linked to anhedonia and reward...

Authors: J. Bakusic, E. Vrieze, M. Ghosh, D. A. Pizzagalli, B. Bekaert, S. Claes and L. Godderis

Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus

Alveolar capillary dysplasia with or without misalignment of the pulmonary veins (ACD/MPV) is a lethal congenital lung disorder associated with a variety of heterozygous genomic alterations in the FOXF1 gene or i...

Authors: Evelien Slot, Ruben Boers, Joachim Boers, Wilfred F. J. van IJcken, Dick Tibboel, Joost Gribnau, Robbert Rottier and Annelies de Klein

Aorta-specific DNA methylation patterns in cell-free DNA from patients with bicuspid aortic valve-associated aortopathy

The dilation of the aorta that occurs as a consequence of a congenitally bicuspid aortic valve (BAV) is associated with a risk of dissection, aneurysm or rupture. With progressive aortopathy, surgery is often ...

Authors: Ashna Maredia, David Guzzardi, Mohammad Aleinati, Fatima Iqbal, Arshroop Khaira, Aiswarya Madhu, Xuemei Wang, Alex J. Barker, Patrick M. McCarthy, Paul W. M. Fedak and Steven C. Greenway