Review
Biochemistry & Molecular Biology
Yuliannis Lugones, Pia Loren, Luis A. Salazar
Summary: Cisplatin is a widely used anti-cancer drug, but tumor cells can develop resistance to its damaging effects through genetic and epigenetic changes, as well as other resistance mechanisms.
Article
Transplantation
Sander Groen In 't Woud, Marleen M. H. J. van Gelder, Iris A. L. M. van Rooij, Wout F. J. Feitz, Nel Roeleveld, Michiel F. Schreuder, Loes F. M. van der Zanden
Summary: Congenital solitary functioning kidney is associated with hypertension, albuminuria, and chronic kidney disease. The study found that interactions between genetic and environmental factors, such as a specific gene mutation in conjunction with maternal overweight, may contribute to the etiology of CSFK. Further research is needed to explore these interactions and their potential impact on the development of the condition.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Oncology
Joshua S. Danoff, Kelly L. Wroblewski, Andrew J. Graves, Graham C. Quinn, Allison M. Perkeybile, William M. Kenkel, Travis S. Lillard, Hardik I. Parikh, Hudson F. Golino, Simon G. Gregory, C. Sue Carter, Karen L. Bales, Jessica J. Connelly
Summary: The neuropeptide oxytocin plays a crucial role in regulating mammalian social behavior, with disruptions in oxytocin signaling being associated with various psychopathologies. Studies focusing on DNA methylation at the oxytocin receptor gene (OXTR) have identified specific regions, exon 3 and MT2, as important in regulating OXTR gene expression. Using the prairie vole as a model, research has shown that early life experiences, particularly parental care, affect DNA methylation in MT2 and exon 3 of Oxtr, with MT2 methylation being more closely associated with Oxtr gene expression. Additionally, novel regulatory features of Oxtr in prairie voles, such as SNPs and alternative transcripts, have been identified, further establishing the prairie vole as a valuable model for studying OXTR in human social behaviors and disorders.
CLINICAL EPIGENETICS
(2021)
Review
Plant Sciences
Xiaori Zhan, Zhehao Chen, Rong Chen, Chenjia Shen
Summary: Plant specialized metabolites (PSMs) are essential in plant adaptation and defense responses, functioning as key components of signaling pathways and serving as antioxidants and chelators. They include nitrogen-containing compounds, terpenoids/isoprenoids, and phenolics, each with their own biosynthetic pathway. Environmental factors and stress-related transcription factors play a role in PSM biosynthesis.
FRONTIERS IN PLANT SCIENCE
(2022)
Review
Environmental Sciences
Danila Cuomo, Margaret J. Foster, David Threadgill
Summary: Lead poisoning is a significant public health concern in environmental justice communities and developing countries. Individual susceptibility to lead exposure varies due to genetic and epigenetic factors. Current studies have provided inconsistent evidence on the identification of susceptibility genes or early exposure biomarkers.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
Lukasz Ustianowski, Jakub Udzik, Joanna Szostak, Anna Goracy, Klaudia Ustianowska, Andrzej Pawlik
Summary: This narrative review discusses the role of genetic and epigenetic factors in the pathogenesis of gestational diabetes mellitus (GDM) and explores the risk factors of GDM, including obesity, advanced maternal age, and polycystic ovary syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Celine L. St Pierre, Juan F. Macias-Velasco, Jessica P. Wayhart, Li Yin, Clay F. Semenkovich, Heather A. Lawson
Summary: Allele-specific expression (ASE) is influenced by genetic, epigenetic, and environmental factors. In this study, the researchers examined how genotype, parent-of-origin, tissue, sex, and dietary fat affect ASE patterns in mice. They found that ASE biases vary across tissues, between males and females, and in response to dietary fat. Additionally, they identified genes with inconsistent ASE biases that switched direction across tissues and/or environments. Integrating ASE and QTL data, they discovered enrichment of ASE genes in QTLs for metabolic and musculoskeletal traits, highlighting the importance of this approach in prioritizing candidate genes.
Review
Gastroenterology & Hepatology
Natalia Balassiano Wajsbrot, Nathalie Carvalho Leite, Gil F. Salles, Cristiane A. Villela-Nogueira
Summary: This review discusses the impact of parental NAFLD on the offspring and analyzes the contributions of multiple mechanisms to this process. Genetic, epigenetic, and environmental backgrounds are all closely related to the development of NAFLD in the offspring.
WORLD JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Endocrinology & Metabolism
Mika Hasegawa, Jumpei Taniguchi, Hiromichi Ueda, Mikio Watanabe
Summary: In this study, the methylation level of CpG sites was examined as an environmental factor affecting adiponectin levels using monozygotic twins with the same genetic background. Epigenetic factors and genetic factors associated with sensitivity to acquired changes in adiponectin were identified.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Urology & Nephrology
Verena Klaembt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M. P. Zegers, Friedhelm Hildebrandt
Summary: Through exome sequencing of 1265 families with CAKUT, six different hemizygous variants in ARHGEF6 gene were identified, which may lead to X-linked CAKUT. Experimental results showed that ARHGEF6 mutations can cause dysregulation of integrin-parvin-RAC1/CDC42 signaling and induce CAKUT.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Valentina Ferradini, Davide Vacca, Beatrice Belmonte, Ruggiero Mango, Letizia Scola, Giuseppe Novelli, Carmela Rita Balistreri, Federica Sangiuolo
Summary: Takotsubo syndrome (TTS), also known as stress cardiomyopathy, is a rare pathology with individual heterogeneity, predominantly affecting postmenopausal women. While a genetic basis in TTS pathogenesis is suspected, clear evidence is lacking. Further research is needed to understand the pathophysiology of TTS and to identify specific and effective treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Public, Environmental & Occupational Health
Abee L. Boyles, Brandiese E. Beverly, Suzanne E. Fenton, Chandra L. Jackson, Anne Marie Z. Jukic, Vicki L. Sutherland, Donna D. Baird, Gwen W. Collman, Darlene Dixon, Kelly K. Ferguson, Janet E. Hall, Elizabeth M. Martin, Thaddeus T. Schug, Alexandra J. White, Kelly J. Chandler
Summary: Environmental factors, such as chemical exposures and nonchemical stressors, can impact maternal health during pregnancy. Studies indicate that racial/ethnic minorities are more vulnerable to adverse effects from both chemicals and nonchemical stressors, leading to disparities in maternal health outcomes.
JOURNAL OF WOMENS HEALTH
(2021)
Review
Cell & Tissue Engineering
Zhi Jie Li, Qian Qian Yang, You Lang Zhou
Summary: Tendons play a crucial role in the musculoskeletal system by connecting muscles to bones and facilitating movement. Tendon injuries can be acute or chronic, and the healing process involves inflammation, proliferation, and remodeling. The mismatch between endogenous and exogenous healing can lead to adhesion and complications. Managing tendon injuries and subsequent adhesion formation remains a challenge for clinicians. This review explores the complex process of tendon healing, discussing the role of biological, mechanical, and epigenetic factors.
STEM CELLS INTERNATIONAL
(2023)
Review
Biochemistry & Molecular Biology
Paule Benit, Judith Goncalves, Riyad El Khoury, Malgorzata Rak, Judith Favier, Anne-Paule Gimenez-Roqueplo, Pierre Rustin
Summary: This review focuses on the research of succinate dehydrogenase (SDH) and its substrate, succinate, and their roles in the mitochondrial respiratory chain and the Krebs cycle. It highlights the recent revival of interest in this field due to the discovery of the involvement of SDH and succinate in certain tumors and cancers.
Review
Agronomy
Ali Movahedi, Soheila Aghaei-Dargiri, Bahram Barati, Saeid Kadkhodaei, Hui Wei, Sirous Sangari, Liming Yang, Chen Xu
Summary: This review provides a detailed description of the mechanisms that plants use to resist environmental stresses, including stress-responsive genes encoding ion and water transporters, enzymes, and transcription factors, as well as defense systems against pathogens such as hormone pathways and reactive oxygen species. It also explains the importance of short RNAs in silencing offensive genomes and protecting plants from pathogens. The review also highlights future trends such as metabolic pathways and genetic engineering for improving plant protection against stress-induced responses.
Article
Biochemistry & Molecular Biology
Verity L. Hartill, Glenn van de Hoek, Mitali P. Patel, Rosie Little, Christopher M. Watson, Ian R. Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V. Knoers, Peter J. Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J. Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M. Mitchison, Rachel H. Giles, Colin A. Johnson
HUMAN MOLECULAR GENETICS
(2018)
Article
Oncology
Saskia L. Gooskens, Timothy D. Klasson, Hendrik Gremmels, Ive Logister, Robert Pieters, Elizabeth J. Perlman, Rachel H. Giles, Mary M. van den Heuvel-Eibrink
MOLECULAR ONCOLOGY
(2018)
Article
Genetics & Heredity
Saleh Albanyan, Rachel H. Giles, Enric Mocholi Gimeno, Josh Silver, Jillian Murphy, Hanna Faghfoury, Chantal F. Morel, Jerry Machado, Raymond H. Kim
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2019)
Review
Urology & Nephrology
Maxine Sun, Lorenzo Marconi, Tim Eisen, Bernard Escudier, Rachel H. Giles, Naomi B. Haas, Lauren C. Harshman, David I. Quinn, James Larkin, Sumanta K. Pal, Thomas Powles, Christopher W. Ryan, Cora N. Sternberg, Robert Uzzo, Toni K. Choueiri, Axel Bex
Article
Urology & Nephrology
Thomas Powles, Laurence Albiges, Michael Staehler, Karim Bensalah, Saeed Dabestani, Rachel H. Giles, Fabian Hofmann, Milan Hora, Markus A. Kuczyk, Thomas B. Lam, Lorenzo Marconi, Axel S. Merseburger, Sergio Fernandez-Pello, Rana Tahbaz, Alessandro Volpe, Borje Ljungberg, Axel Bex
Review
Oncology
Christian Vogel, Brigitte Ziegelmueller, Borje Ljungberg, Karim Bensalah, Axel Bex, Steven Canfield, Rachel H. Giles, Milan Hora, Markus A. Kuczyk, Axel S. Merseburger, Thomas Powles, Laurence Albiges, Fiona Stewart, Allseandro Volpe, Anno Graser, Marcus Schlemmer, C. Yuan, Thomas Lam, Michael Staehler
CLINICAL GENITOURINARY CANCER
(2019)
Article
Biochemical Research Methods
Marijn F. Stokman, Irene V. Bijnsdorp, Tim Schelfhorst, Thang V. Pham, Sander R. Piersma, Jaco C. Knol, Rachel H. Giles, Ernie M. H. F. Bongers, Nine V. A. M. Knoers, Marc R. Lilien, Connie R. Jimenez, Kirsten Y. Renkema
JOURNAL OF PROTEOMICS
(2019)
Editorial Material
Oncology
Rachel H. Giles, Sven Glasker
Article
Oncology
Koen M. A. Dreijerink, Rachel S. van Leeuwaarde, Wenzel M. Hackeng, Rachel H. Giles, Wendy W. J. de Leng, Paul C. Jutte, Albert J. H. Suurmeijer, Bernadette P. M. van Nesselrooij, Lodewijk A. A. Brosens
Article
Cell Biology
Zhiyong Lei, Timothy D. Klasson, Maarten M. Brandt, Glenn van de Hoek, Ive Logister, Caroline Cheng, Pieter A. Doevendans, Joost P. G. Sluijter, Rachel H. Giles
Article
Oncology
Wendy P. G. Wolters, Koen M. A. Dreijerink, Rachel H. Giles, Anouk N. A. van der Horst-Schrivers, Bernadette van Nesselrooij, Wouter T. Zandee, Henri J. L. M. Timmers, Tatjana Seute, Wouter W. de Herder, Annemarie A. Verrijn Stuart, Emine Kilic, Willem M. Brinkman, Patricia J. Zondervan, W. Peter Vandertop, Anthony B. Daniels, Tijmen Wolbers, Thera P. Links, Rachel S. van Leeuwaarde
Summary: This article aims to establish a multidisciplinary integrated care pathway for individuals with von Hippel-Lindau (VHL) disease. Through a modified Delphi consensus-making process, a panel of experts developed a comprehensive care pathway for VHL patients, which can be implemented in specialized clinics or nonacademic treatment clinics.
Letter
Oncology
Rachel S. van Leeuwaarde, Wendy P. G. Wolters, Koen M. A. Dreijerink, Rachel H. Giles
Article
Biochemistry & Molecular Biology
Sander Groen in't Woud, Carlo Maj, Kirsten Y. Renkema, Rik Westland, Tessel Galesloot, Iris A. L. M. van Rooij, Sita H. Vermeulen, Wout F. J. Feitz, Nel Roeleveld, Michiel F. Schreuder, Loes F. M. van der Zanden, SOFIA Study Grp
Summary: A genome-wide association study was conducted on 452 patients with CSFK and two control groups, and found that common genetic variation may play a role in the etiology of CSFK. One identified locus was in close proximity to a gene involved in kidney development, and two other genes may explain the association with other loci. Further replication in independent cohorts is needed.
Article
Biochemistry & Molecular Biology
Claudia Dafinger, Markus M. Rinschen, Lori Borgal, Carolin Ehrenberg, Sander G. Basten, Mareike Franke, Martin Hoehne, Manfred Rauh, Heike Goebel, Wilhelm Bloch, F. Thomas Wunderlich, Dorien J. M. Peters, Dirk Tasche, Tripti Mishra, Sandra Habbig, Joerg Doetsch, Roman-Ulrich Mueller, Jens C. Bruening, Thorsten Persigehl, Rachel H. Giles, Thomas Benzing, Bernhard Schermer, Max C. Liebau
EXPERIMENTAL AND MOLECULAR MEDICINE
(2018)
Article
Urology & Nephrology
Ellen van Rooijen, Glenn van de Hoek, Ive Logister, Henry Ajzenberg, Nine V. A. M. Knoers, Freek van Eeden, Emile E. Voest, Stefan Schulte-Merker, Rachel H. Giles