Editorial Material
Multidisciplinary Sciences
Ran Elkon, Reuven Agami
Summary: Basic design principles that protect enhancer networks against the harmful effects of genetic mutations have been elucidated.
Review
Cell Biology
Fangyu Zhou, Xin Wang, Lingjun Wang, Xin Sun, Guiqin Tan, Wenwen Wei, Guangbing Zheng, Xiaomin Ma, Dan Tian, Hongsong Yu
Summary: This article reviews the role of genetics, epigenetics, cellular immunology, and gut microbiota in the pathogenic mechanism of Graves' disease, which may lead to the development of novel therapeutic strategies and providing promising therapeutic targets.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Editorial Material
Multidisciplinary Sciences
Maggie P. Lauria Sneideman, Victoria H. Meller
Summary: A protein that upregulates gene expression of the X chromosome has been discovered in male mosquitoes, which is crucial for equalizing gene expression between sexes in organisms with X and Y chromosomes.
Review
Biochemistry & Molecular Biology
Erik A. Ovrom, Karson A. Mostert, Shivani Khakhkhar, Daniel P. McKee, Padao Yang, Yeng F. Her
Summary: This narrative review provides an overview of the current understanding of the genetic and epigenetic contributions to the development of fibromyalgia (FM). While no single gene has been identified as the cause of FM, this study suggests that certain genetic polymorphisms involved in various pathways may influence susceptibility to FM and the severity of its symptoms. Additionally, epigenetic changes at the DNA level and the impact of microRNAs on protein expression are also implicated in the development and worsening of FM-associated symptoms.
Review
Peripheral Vascular Disease
Veda Gokula, David Terrero, Bina Joe
Summary: The University of Toledo College of Medicine and Life Sciences has contributed significantly to our understanding of hypertension, with researchers receiving awards for their work. Recent studies have focused on novel links between microbiota and metabolites to the etiology of hypertension.
CURRENT HYPERTENSION REPORTS
(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)
Review
Biochemistry & Molecular Biology
Eva Giralt-Steinhauer, Joan Jimenez-Balado, Isabel Fernandez-Perez, Lucia Rey Alvarez, Ana Rodriguez-Campello, Angel Ois, Elisa Cuadrado-Godia, Jordi Jimenez-Conde, Jaume Roquer
Summary: This review summarizes the advances in genetics and epigenetics of intracerebral hemorrhage (ICH), shedding light on the understanding of ICH pathophysiology and the potential for developing therapeutic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
M. Nazmul Huda, Myungsuk Kim, Brian J. Bennett
Summary: The gut microbiota plays a significant role in the metabolism and disease status of the host, particularly in conditions like Type 2 Diabetes (T2D) where dysbiosis can act as a risk factor. Research points to the causal relationship between microbiota and T2D through methods like fecal microbiota transplantation (FMT) or probiotic supplementation, highlighting the potential role of microbial metabolites in this interaction. Future therapeutic approaches for T2D may involve interventions such as FMT, prebiotics, and probiotics supplementation.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Cell Biology
Daniel Richard, Terence D. Capellini, Brian O. Diekman
Summary: The identification of genomic loci associated with osteoarthritis (OA) provides insights into the role of genetic variation in joint catabolic processes. Epigenetic changes during different life stages can modify the risk of OA and need to be considered in genome-wide association studies (GWAS). Gene expression regulation through tissue-specific enhancer activity is important for joint development and susceptibility to OA. Methylation changes and chromatin reorganization during aging can unmask the effects of genetic variants on OA progression.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Olimpia Mora-Janiszewska, Anna Faryniak-Zuzak, Dorota Darmochwal-Kolarz
Summary: Gestational diabetes mellitus (GDM) is a significant global problem that induces diabetogenic and obesogenic changes in an offspring's DNA through epigenetic mechanisms. Alterations in microbiota play a crucial role in this process. Identification of specific epigenetic marks may provide key solutions for personalized medicine. This manuscript summarizes available data on epigenetic changes among women with GDM and their offspring, in relation to microbiome alterations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Microbiology
Mason H. Lee, Miguel Medina Munoz, Rita V. M. Rio
Summary: Tsetse flies play a significant role in the transmission of Trypanosoma parasites, which cause African trypanosomiases in humans and animals. Microbial symbiosis is crucial for supplementing nutrient deficiencies in these flies, but the mechanisms and regulation of metabolic exchanges between partners are not well understood. In this study, the roles of microRNAs and DNA methylation in maintaining insect-microbiota homeostasis are proposed and supported by empirical evidence. Understanding the coordination between microbiota and host activity may have applications in manipulating host health and developing innovative vector control strategies.
FRONTIERS IN MICROBIOLOGY
(2022)
Review
Medicine, Research & Experimental
Dan Li, Yujuan Li, Shengjie Yang, Jing Lu, Xiao Jin, Min Wu
Summary: The prevalence of metabolic diseases, such as obesity, type 2 diabetes, and nonalcoholic fatty liver disease, is closely related to environmental factors like diet and gut microbiota, as well as epigenetic modifications. Dietary components and habits can regulate the changes in gut microbiota, while microbiota-derived metabolites may play a role in the regulation of epigenetic modifications. These epigenetic changes mediated by microbial metabolites participate in metabolic disorders through alterations in intestinal permeability, immune responses, inflammatory reactions, and insulin resistance.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Genetics & Heredity
Samuel W. Baker, Kelly A. Duffy, Jennifer Richards-Yutz, Matthew A. Deardorff, Jennifer M. Kalish, Arupa Ganguly
Summary: Beckwith-Wiedemann Syndrome (BWS) is characterized by overgrowth and tumor predisposition, mainly caused by methylation defects in imprinting control regions on chromosome 11p15.5. Molecular diagnosis of BWS requires the use of multiple sensitive diagnostic techniques to reliably detect low-level aberrations. Testing both blood and solid tissue samples can increase the diagnostic yield and identify mosaic disease among individuals with BWSp.
JOURNAL OF MEDICAL GENETICS
(2021)
Review
Endocrinology & Metabolism
Xihua Lin, Hong Li
Summary: Obesity is a complex multifactorial disease with negative health effects, mainly caused by an energy imbalance. Treatment strategies should focus on biological mechanisms and reducing BMI.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Elena Paccosi, Luca Proietti-De-Santis
Summary: Parkinson's disease (PD) is a common neurodegenerative disorder characterized by the loss of dopaminergic neurons and the presence of Lewy bodies. The current treatment options are limited, and there is a need for new drugs to improve therapeutic approaches. Epigenetic alterations, specifically dysregulation of miRNAs, have shown promise in PD research. Modified exosomes, loaded with therapeutic compounds and miRNAs, may be a potential treatment strategy for PD. This review aims to explore the therapeutic potential of the exosomes/miRNAs network in PD treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
R. Kalkan, M. Altarda, O. Tosun
BALKAN JOURNAL OF MEDICAL GENETICS
(2020)
Article
Surgery
Emine Ikbal Atli, Sinem Yalcintepe, Engin Atli, Selma Demir, Cisem Mail, Damla Eker, Rasime Kalkan, Hakan Gurkan
Summary: Craniosynostosis is a genetic disorder that requires early diagnosis and genetic analysis for effective treatment and management. This study utilized various techniques to analyze the genetic etiology of craniosynostosis, identifying mutations in specific genes associated with syndromes. Detailed genetic analysis is crucial for determining the cause of the disease and guiding treatment strategies.
JOURNAL OF CRANIOFACIAL SURGERY
(2021)
Article
Hematology
Emine Ikbal Atli, Hakan Gurkan, Engin Atli, Hakki Onur Kirkizlar, Sinem Yalcintepe, Selma Demir, Ufuk Demirci, Damla Eker, Cisem Mail, Rasime Kalkan, Ahmet Muzaffer Demir
Summary: Advanced diagnostic methods such as cytogenetics, molecular cytogenetics, and NGS testing have shown potential importance in identifying genetic abnormalities in myeloid malignancies. Despite conventional techniques being the golden standard, advanced technologies like NGS are highly recommended in cases where cryptic gene fusions or complex abnormalities cannot be easily identified. The study highlighted the detection of novel variations in myeloid malignancies using NGS, with higher pathogenic variation detection rates in certain disease groups.
MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES
(2021)
Article
Medicine, General & Internal
Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Damla Eker, Hakan Gurkan
Summary: Advancements in genetic technology have improved the diagnosis and treatment of epilepsy. Genetic studies in different populations play a crucial role in understanding the genes that cause the disease. Next-generation sequencing (NGS) panels have shown to be effective in diagnosing epilepsy and potentially changing clinical management.
INTERNAL MEDICINE JOURNAL
(2022)
Article
Medicine, Research & Experimental
Chidi Wilson Nwekwo, Rasime Kalkan, Terin Adali
Summary: The study designed a SF biofilm and tested its biocompatibility and cytotoxicity, finding that the SF film supports cell proliferation without side effects. Results indicated that chondrocyte viability in the SF film was significantly higher, making it a potential material for cartilage tissue engineering.
CYPRUS JOURNAL OF MEDICAL SCIENCES
(2021)
Review
Genetics & Heredity
Bugsem Oztenekecioglu, Merdiye Mavis, Meryem Osum, Rasime Kalkan
Summary: Understanding the causes of autism spectrum disorder is crucial for treatment and support. This article explains various factors contributing to ASD, including environmental, epigenetic, and genetic factors. By examining these factors, we can better address and support this neurodevelopmental disorder.
GLOBAL MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Cisem Akurut, Yasemin Ozen, Hakan Gurkan
Summary: Genetic testing is important in prenatal diagnosis of CHD, providing valuable information through analysis of chromosomal abnormalities and gene mutations.
GLOBAL MEDICAL GENETICS
(2022)
Review
Genetics & Heredity
Ziya Ozturkler, Rasime Kalkan
Summary: The COVID-19 outbreak originated in Wuhan, China in December 2019. ACE2 receptor and transmembrane protease serine 2 variations are crucial in virus entry, while epigenetic modifications of ACE2 play a role in virus infection. ACE2 methylation changes depending on host and host age during viral infection, indicating the importance of epigenetic modifications in viral replication and COVID-19 susceptibility.
GLOBAL MEDICAL GENETICS
(2022)
Review
Genetics & Heredity
Asli Aykac, Rasime Kalkan
Summary: Posttraumatic stress disorder (PTSD) is a stress-related mental disorder that develops after exposure to life-threatening traumatic experiences. Risk factors for PTSD include genetic factors, alterations in various systems within the body, and environmental factors. Epigenetic mechanisms play important roles in the biological response affected by environmental factors and programming cell identity in the context of PTSD. Research using rodent animal models has shed light on the epigenetic background of stress and PTSD.
GLOBAL MEDICAL GENETICS
(2022)
Review
Genetics & Heredity
Hafsa Yousif Solayman Essa, Gunay Kusaf, Ozel Yuruker, Rasime Kalkan
Summary: Colorectal cancer (CRC) is the leading cause of cancer death worldwide. The initiation and progression of CRC are closely associated with various epigenetic and genetic changes in colon epithelial cells. Recent advances in understanding cancer epigenetics, particularly DNA methylation changes, histone modifications, dysregulation of miRNAs and noncoding RNAs, have provided significant insights. Abnormal methylation of genes causing gene alterations or miRNA expression has been reported in almost all CRC cases, indicating the important role of epigenetic changes in CRC. Furthermore, epigenetic changes are being established as clinical biomarkers for therapeutic and diagnostic purposes, showing promise for the prevention and treatment of CRC in the future.
GLOBAL MEDICAL GENETICS
(2022)
Article
Medicine, General & Internal
Gunay Kusaf, Ozgur Tosun, Rasime Kalkan
Summary: This study compared the promoter methylation status of circadian genes BMAL1 and CLOCK between pre-menopausal and postmenopausal women. The results showed no significant correlation between menopause and methylation status of these genes. Further research is needed to shed light on this subject.
MEDICAL JOURNAL OF BAKIRKOY
(2022)
Article
Biochemistry & Molecular Biology
Tirah Galaya Jesse, Eda Becer, Rasime Kalkan
Summary: Environmental factors and genetic modifications contribute to the development of obesity in children, teenagers, and young adults. There is a close relationship between obesity and circadian rhythm. The methylation status of CLOCK and BMAL1 genes were analyzed in obese and control subjects, revealing an association between CLOCK methylation and fasting glucose and HDL-cholesterol levels in obesity, as well as a significant association between BMAL1 methylation and waist and hip circumference in obese subjects. This study demonstrates a novel epigenetic interaction between circadian clock genes and obesity.
BIOCHEMICAL GENETICS
(2023)
Article
Chemistry, Multidisciplinary
Karar Shukur, Amirhossein Fallah, Kerem Terali, Rasime Kalkan, Mustafa Gazi, Hayrettin Ozan Gulcan
Summary: This study explores the selective sensing properties of different compounds for specific metals, particularly Iron (III). Through fluorescence assays and cellular imaging, the compounds not only demonstrate reliable metal binding capabilities, but also show potential applications as intracellular sensors in neuroblastoma and glioblastoma cells.
TURKISH JOURNAL OF CHEMISTRY
(2021)
Article
Genetics & Heredity
Ikbal E. Atli, H. Gurkan, Onur H. Kirkizlar, E. Atli, S. Demir, S. Yalcintepe, R. Kalkan, A. M. Demir
BALKAN JOURNAL OF MEDICAL GENETICS
(2020)
