Article
Oncology
Shanshan Chen, Youjia Duan, Yongchao Zhang, Long Cheng, Liang Cai, Xiaopu Hou, Wei Li
Summary: In this study, the polymorphisms of hypoxia-related genes were found to be correlated with the formation of hepatocellular carcinoma (HCC) capsule and the prognosis of HCC patients. The genetic variants in genes including SLC2A1, STAT1, HIF1A, SERPINE1, IFNG, and CTNNB1 showed significant associations with HCC capsule formation and prognosis.
JOURNAL OF HEPATOCELLULAR CARCINOMA
(2023)
Article
Health Care Sciences & Services
Krzysztof Szalus, Weronika Zysk, Jolanta Glen, Monika Zablotna, Roman J. Nowicki, Magdalena Trzeciak
Summary: The pathophysiology of atopic dermatitis (AD) is complex and not fully understood. This study aimed to investigate the associations between genetic polymorphisms of collagen genes and the occurrence and features of AD in the Polish population. The results suggest that certain polymorphisms are associated with the course and symptoms of AD, potentially serving as new disease biomarkers. Modulation of collagens may be a future therapeutic target for AD.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Cell Biology
Farbod Bahreini, Elham Rayzan, Nima Rezaei
Summary: Breast cancer, a multifactorial disease, may have an increased risk due to alterations in microRNA sequences. miR-SNPs are potential biomarkers for early detection of breast cancer.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Article
Genetics & Heredity
Ann Ying-An Chen, Chao-Wei Huang, Shyh-Hwa Liu, An-Chi Liu, Hso-Chi Chaung
Summary: This study investigated the distribution of SNP sites in immune-related genes and their correlations with cell surface markers in different breeds of pigs. The findings revealed significant SNP differences among breeds, particularly between Taiwan black and Landrace pigs, as well as correlations between certain SNPs and the expression of cell surface markers. Understanding the genetic uniqueness of each breed could help identify functionally important SNPs in immunoregulation.
Review
Biochemistry & Molecular Biology
Xiaoying Li, Qijun Wu, Baosen Zhou, Yashu Liu, Jiale Lv, Qing Chang, Yuhong Zhao
Summary: This study found that only 13 SNPs were strongly correlated with lung cancer risk based on systematic reviews and meta-analyses, providing valuable insights for further genetic studies.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Genetics & Heredity
Jinzhong Xu, Fenzan Wu, Fan Wang, Fan Yang, Meng Liu, Mengbei Lou, Linman Wu, Hui Li, Wenhui Lin, Yunchao Fan, Li Chen, Yanlong Liu, Haiyun Xu, Jue He
Summary: The study revealed a significant association among the interaction of single nucleotide polymorphisms of the FGF 19 superfamily, AD severity, and aggressive behavior in patients with AD.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Yaheng Li, Chuanyin Li, Shuyuan Liu, Jia Yang, Li Shi, Yufeng Yao
Summary: SNPs in miRNA genes play critical roles in the development of cervical cancer, potentially altering miRNA expression and maturation, and impacting the development of various cancers.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Oncology
Wioletta Izabela Wujcicka, Agnieszka Zajac, Krzysztof Szyllo, Hanna Romanowicz, Beata Smolarz, Grzegorz Stachowiak
Summary: Significant associations were found between single nucleotide polymorphisms (SNPs) of CCL2, CCL5, CXCL8, and CXCR2 genes and the risk of endometrial cancer.
Article
Biotechnology & Applied Microbiology
Johannes Geibel, Nora Paulina Praefke, Steffen Weigend, Henner Simianer, Christian Reimer
Summary: This study aimed to generate a precise SV callset from whole-genome short-read sequencing (WGS) data for three commercial chicken populations and to evaluate the linkage disequilibrium (LD) patterns between the called SVs and surrounding SNPs. The results indicated that LD between deletions (DELs) and SNPs was similar to LD between SNPs, while LD between other SVs and SNPs was significantly reduced. The main reason for the reduced LD was the presence of local minor allele frequency differences. Genotyping accuracy was lower for duplications (DUP), inversions (INV), and translocation breakpoints (BND) compared to SNPs and deletions (DELs). The presence of tag SNPs was slightly lower for DELs compared to WGS SNPs, but this difference disappeared when considering SNPs located on different chicken genotyping arrays.
Article
Agriculture, Dairy & Animal Science
Kasita Listyarini, Cece Sumantri, Sri Rahayu, Md. Aminul Islam, Syeda Hasina Akter, Muhammad Jasim Uddin, Asep Gunawan
Summary: This study analyzed the transcriptome of high- and low-lamb tenderness samples and identified potential hepatic genes and polymorphisms affecting lamb tenderness. These findings could be used in selection programs for lamb tenderness improvement. Tenderness is a crucial meat quality trait for public acceptance of lamb consumption, and genetic improvement towards higher tenderness is pivotal for a sustainable sheep industry.
Article
Health Care Sciences & Services
Tingting Zhao, Yiming Zhang, Joochul Lee, Angela R. Starkweather, Erin E. Young, Xiaomei Cong
Summary: This study found that certain genetic polymorphisms are associated with the risk and symptoms of irritable bowel syndrome, including abdominal pain, sleep disturbance, and fatigue. These findings contribute to the understanding of how genetic variations influence the development and changes of IBS symptoms over time.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Peng Ju Liu, Aimin Yao, Xiao Yan Chen, Yanping Liu, Liangkun Ma, Yi Xuan Hou
Summary: Two TMPRSS6 SNPs (rs855791 and rs4820268) were significantly associated with serum iron and transferrin saturation, and the rs4820268 C allele was nominally and significantly associated with an increased risk of GDM. The effects of TMPRSS6 SNPs on GDM risk may not be completely explained by body iron status, suggesting further studies are needed.
BIOLOGICAL TRACE ELEMENT RESEARCH
(2021)
Article
Genetics & Heredity
G. Vigneshwaran, Qurratulain Annie Hasan, Rahul Kumar, Avinash Eranki
Summary: This study constructed a framework to identify genes associated with triple-negative breast cancer (TNBC) and screen the single nucleotide polymorphisms (SNPs) reported in these genes. The study found the association of genes such as BRCA1, BRCA2, EGFR, PIK3CA, PTEN, and TP53 with TNBC. The framework was demonstrated to have high accuracy in identifying pathogenic alterations in breast cancer samples.
FRONTIERS IN GENETICS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Cinthia Cruz-Romero, Abra Guo, William F. Bradley, Joao R. T. Vicentini, Vijay Yajnik, Michael S. Gee
Summary: This study found significant associations between CD genotype and MRE phenotype, as well as frequency of cross-sectional imaging. Specific genetic polymorphisms were found to be associated with small bowel inflammation and luminal narrowing, while another polymorphism was associated with age of onset, proportion of early disease onset patients, and average number of cross-sectional imaging per year.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Editorial Material
Gastroenterology & Hepatology
Joseph A. Murray
Article
Gastroenterology & Hepatology
David Bergman, James King, Benjamin Lebwohl, Mark S. Clements, Bjorn Roelstraete, Gilaad G. Kaplan, Peter H. R. Green, Joseph A. Murray, Jonas F. Ludvigsson
Summary: The incidence of CD in Sweden peaked in 2002-2003 for females and in 2006 for males. Despite increasing duodenal/jejunal biopsies, the incidence of CD has declined, indicating that increased awareness and investigation are unlikely to elevate the disease incidence in Sweden. The lifetime risk of developing CD is relatively high in Sweden, with 1 in 44 females and 1 in 72 males expected to be diagnosed.
Review
Biochemistry & Molecular Biology
Sheridan L. Helman, Jie Zhou, Brie K. Fuqua, Yan Lu, James F. Collins, Huijun Chen, Christopher D. Vulpe, Gregory J. Anderson, David M. Frazer
Summary: The mammalian multicopper ferroxidases (MCFs), including ceruloplasmin, hephaestin, and zyklopen, play crucial roles in maintaining iron homeostasis in the body. They function in oxidizing, releasing, and absorbing iron ions, and have various physiological functions in different tissues. Apart from their iron-related roles, they also have other physiological functions, although many of them are not well-defined.
Article
Gastroenterology & Hepatology
Rok Seon Choung, Ayush Sharma, Victor G. Chedid, Imad Absah, Zongming Eric Chen, Joseph A. Murray
Summary: This study reports the use of topical budesonide as an alternative therapy for collagenous gastritis (CG). The results show that most patients with CG had a clinical and histologic response to topical budesonide treatment.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Roger M. Pallares, Dahlia D. An, Solene Hebert, David Faulkner, Alex Loguinov, Michael Proctor, Jonathan A. Villalobos, Kathleen A. Bjornstad, Chris J. Rosen, Christopher Vulpe, Rebecca J. Abergel
Summary: In this study, the toxicological interactions of gadolinium with Saccharomyces cerevisiae were assessed using functional toxicogenomics. The researchers identified biological functions and pathways disturbed by the metal, such as endocytosis and vesicle-mediated transport. They also found that certain metabolic processes were disrupted by gadolinium treatments. Proteins involved in vesicle-mediated transport and metabolic processes were identified as key components in reducing the metal toxicity. Many of the genes and proteins associated with gadolinium toxicity are conserved in humans, indicating their potential role in diseases related to gadolinium-based contrast agent exposures.
Editorial Material
Gastroenterology & Hepatology
Paul C. Adams
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Gastroenterology & Hepatology
Caecilie Crawley, Nadia Savino, Cecilie Halby, Stine Dydensborg Sander, Anne-Marie Nybo Andersen, Manimozhiyan Arumugam, Joseph Murray, Robin Christensen, Steffen Husby
Summary: This study investigated whether gluten induces gastrointestinal symptoms and mental health symptoms in adolescents. The results showed that compared with placebo, adding gluten to the diet did not induce gastrointestinal symptoms or worsened mental health.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Clinical Neurology
S. K. Sethi, S. Sharma, S. Gharabaghi, D. Reese, Y. Chen, P. Adams, M. S. Jog, E. M. Haacke
Summary: Patients with hereditary hemochromatosis showed elevated brain iron levels compared to healthy controls in both quantitative susceptibility mapping and R2* mapping, particularly in regions like the caudate nucleus, putamen, pulvinar thalamus, red nucleus, and dentate nucleus in the deep gray matter.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2022)
Article
Gastroenterology & Hepatology
Joseph A. Murray, Jack A. Syage, Tsung-Teh Wu, Matthew A. Dickason, Ana G. Ramos, Carol Van Dyke, Irina Horwath, Philip T. Lavin, Markku Maki, Isabel Hujoel, Konstantinos A. Papadakis, Adam C. Bledsoe, Chaitan Khosla, Jennifer A. Sealey-Voyksner
Article
Gastroenterology & Hepatology
Annalisa Schiepatti, David S. Sanders, Paola Baiardi, Giacomo Caio, Carolina Ciacci, Katri Kaukinen, Benjamin Lebwohl, Daniel Leffler, Georgia Malamut, Joseph A. Murray, Kamran Rostami, Alberto Rubio-Tapia, Umberto Volta, Federico Biagi
Summary: This study achieved a consensus on the definitions and diagnostic criteria for seronegative coeliac disease and chronic non-coeliac enteropathies in adults through the Delphi process.
Article
Engineering, Industrial
Alexander T. Miller, Michelle B. Herberts, Stephanie L. Hansel, Jean C. Fox, M. Susan Hallbeck, John League, Chadrick Hinson, Carol Van Dyke, Joseph A. Murray
Summary: This study describes the risk factors and consequences of musculoskeletal injuries among gastroenterologists. It found that activity-limiting injuries have a negative impact on procedural volume and efficiency.
APPLIED ERGONOMICS
(2022)
Article
Chemistry, Multidisciplinary
Jong Hyun Kim, Samuel Ofori, Abderrahmane Tagmount, Chris D. Vulpe, Samuel G. Awuah
Summary: Metal-based drugs, such as cisplatin and auranofin, have been used to treat cancer and rheumatoid arthritis. This study used a targeted CRISPR screen to identify genes that modulate cellular sensitivity to gold agents and synthesized a novel chiral gold(I) compound with potent anticancer activity. The findings provide important insights into the targets and effects of gold agents in mammalian cells.
Article
Chemistry, Multidisciplinary
Roger M. Pallares, Dahlia D. An, Solene Hebert, Alex Loguinov, Michael Proctor, Jonathan A. Villalobos, Kathleen A. Bjornstad, Chris J. Rosen, Chris D. Vulpe, Rebecca J. Abergel
Summary: This study extensively characterizes the toxicity mechanisms of early lanthanides, lanthanum and praseodymium, through a multidimensional genome-wide toxicogenomic study using Saccharomyces cerevisiae as a model system. The findings identify key genes and proteins involved in the response to lanthanide-induced toxicity and suggest potential strategies for prophylaxis and therapeutics.
Editorial Material
Gastroenterology & Hepatology
Joseph A. Murray
Article
Biochemistry & Molecular Biology
Roger M. Pallares, Dahlia D. An, Solene Hebert, Alex Loguinov, Michael Proctor, Jonathan A. Villalobos, Kathleen A. Bjornstad, Chris J. Rosen, Christopher Vulpe, Rebecca J. Abergel
Summary: Recent studies have shown that lanthanides, despite their similar properties, can exhibit different biological behaviors. This study used genome-wide functional screening to investigate the biological effects of exposure to late lanthanides, represented by Yb(III) and Lu(III). The results indicated toxicity of late lanthanides is consistent with disruption of vesicle-mediated transport and suggested a potential target of proteins with SH3 domains. This study provides insights into the unique biological chemistry of late lanthanides and may contribute to the development of new strategies for decorporation and bio-inspired separation processes.