Article
Gastroenterology & Hepatology
Kara Wegermann, Melanie E. Garrett, Jiayin Zheng, Andrea Coviello, Cynthia A. Moylan, Manal F. Abdelmalek, Shein-Chung Chow, Cynthia D. Guy, Anna Mae Diehl, Allison Ashley-Koch, Ayako Suzuki
Summary: The study found that sex and menopausal status significantly influence the effect of metabolism-related single nucleotide polymorphisms (SNPs) on the development of fibrosis in nonalcoholic fatty liver disease (NAFLD), with 10 loci identified to be relevant to fibrosis progression.
HEPATOLOGY COMMUNICATIONS
(2021)
Article
Pharmacology & Pharmacy
Yuki Mitarai, Ryosuke Tanino, Kazuhisa Nakashima, Takamasa Hotta, Takeshi Isobe, Yukari Tsubata
Summary: Long-term administration of pemetrexed (PEM) in lung cancer patients can cause renal damage. Specific single nucleotide polymorphisms (SNPs) in the folylpolyglutamate synthase (FPGS) gene may affect therapeutic efficacy, but their impact on renal function is unclear. Identifying SNPs related to renal damage during PEM administration can help predict renal function decline caused by PEM.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2023)
Article
Veterinary Sciences
Ling Yang, Jiachen Bai, Zhihua Ju, Qiang Jiang, Jinpeng Wang, Yaping Gao, Yaran Zhang, Xiaochao Wei, Jinming Huang
Summary: This study identified an association between the APOA1 gene and ketosis in high-yielding dairy cows. A novel SNP (g.-572 A > G) in the core promoter region of the APOA1 gene was found, which may serve as a genetic marker for ketosis prevention. Furthermore, lower concentrations of blood beta-hydroxybutyrate were observed in cows with the genotype GG compared to cows with genotypes AA and AG.
RESEARCH IN VETERINARY SCIENCE
(2021)
Article
Immunology
Yan Li, Wei Li, Li Huang, Huijia Li, Peipeng He, Chao Xue
Summary: This study investigated the association between microscopic polyangiitis and the single nucleotide polymorphism rs807185 in autophagy-associated gene 4A (ATG4A) in the Chinese population. Using multiplex polymerase chain reaction and high-throughput sequencing, it was found that the control group had a higher frequency of the A allele of rs807185 compared to the microscopic polyangiitis group, suggesting that the A allele of rs807185 may have a protective effect against microscopic polyangiitis in the Chinese population. However, the molecular mechanisms remain unclear.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Pharmacology & Pharmacy
Shanshan Nie, Kaifeng Chen, Chengxian Guo, Qi Pei, Chan Zou, Liangyuan Yao, Hongbo Yuan, Xia Zhao, Ran Xie, Xu He, Jie Huang, Guoping Yang
Summary: This study reveals the impact of CYP4F2 rs2074900 SNP on ticagrelor pharmacokinetics (PK) and provides new insights into the pharmacogenetics of ticagrelor.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Cell Biology
Concetta Scimone, Luigi Donato, Simona Alibrandi, Concetta Alafaci, Angela D'Ascola, Sergio Vinci, Rosalia D'Angelo, Antonina Sidoti
Summary: This study reveals the importance of epitranscriptomic modifications in gene expression regulation and suggests the involvement of altered epitranscriptome profile in the development of CCM. These findings provide new insights for further investigation into the pathogenesis of CCM.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Urology & Nephrology
Nobuhiro Haga, Yu Okabe, Takeshi Miyazaki, Kazuna Tsubouchi, Hidenori Akaihata, Junya Hata, Ruriko Honda, Kanako Matsuoka, Soichiro Ogawa, Yoshiyuki Kojima
Summary: The Trp64Arg variant of the beta(3)-adrenoceptor gene significantly increased PVR and voiding time in men, but was not significantly associated with the emergence of LUTS. This suggests that the effect of beta(3)-adrenoceptor gene polymorphisms on urinary quality of life in men may be weak, while modestly affecting lower urinary tract function.
WORLD JOURNAL OF UROLOGY
(2021)
Review
Medicine, General & Internal
Juan M. Cubillos-Angulo, Catarina D. Fernandes, Davi N. Araujo, Cristinna A. Carmo, Maria B. Arriaga, Bruno B. Andrade
Summary: Genetic studies have shown the relevance of CD14 and NOD2 gene polymorphisms in association with the risk of diseases caused by Mycobacterium tuberculosis infection. Specific CD14 polymorphisms were found to either increase or decrease the risk of TB disease, while certain NOD2 SNPs were significantly associated with higher risk in the Chinese population. Ethnicity may play a role in the impact of these gene polymorphisms on the risk of Mtb diseases.
SYSTEMATIC REVIEWS
(2021)
Review
Plant Sciences
Zheng Ying, Muhammad Awais, Reshmi Akter, Fengjiao Xu, Sul Baik, Daehyo Jung, Deok Chun Yang, Gi-Young Kwak, Wenying You
Summary: Discriminating plant species, cultivars, and landraces is challenging, but SNP markers have proven to be a reliable tool for differentiating Panax ginseng and similar species. This article provides a cost-effective guide for SNP marker analysis in a traditional laboratory setting.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Geriatrics & Gerontology
Qing Chen, Zhi-Hao Li, Wei-Qi Song, Yao Yao, Yu-Jie Zhang, Wen-Fang Zhong, Pei-Dong Zhang, Dan Liu, Xi-Ru Zhang, Qing-Mei Huang, Xiao-Yang Zhao, Xiao-Ming Shi, Chen Mao
Summary: This study found that the single nucleotide polymorphism (SNP) rs1937 on the mitochondrial transcription factor A (TFAM) gene is associated with longevity. Individuals with the CC genotype of rs1937 are more likely to have increased longevity. Further studies are needed to understand the biological mechanism of rs1937 in promoting longevity.
Article
Cardiac & Cardiovascular Systems
Shiyun Wang, Zixuan Deng, Hong Zhang, Rong Zhang, Dandan Yan, Xiaojiao Zheng, Weiping Jia, Cheng Hu
Summary: Hp genotype affects the association between DDAH 1 rs233109 and diabetic macroangiopathy in Chinese patients with type 2 diabetes.
CARDIOVASCULAR DIABETOLOGY
(2022)
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
Cardiac & Cardiovascular Systems
Matthew R. Alexander, Samuel Hank, Bethany L. Dale, Lauren Himmel, Xue Zhong, Charles D. Smart, Daniel J. Fehrenbach, Yuhan Chen, Nitin Prabakaran, Brian Tirado, Megan Centrella, Mingfang Ao, Liping Du, Yu Shyr, Daniel Levy, Meena S. Madhur
Summary: Research suggests that the Trp encoding allele of rs3184504 may be causal for hypertension and renal dysfunction, in part due to the loss of SH2B3-mediated repression of T cell IL-12 signaling leading to enhanced IFNg production.
CIRCULATION RESEARCH
(2022)
Article
Multidisciplinary Sciences
Jonas Schmidt, Sandro Berghaus, Frithjof Blessing, Holger Herbeck, Josef Blessing, Peter Schierack, Stefan Rodiger, Dirk Roggenbuck, Folker Wenzel
Summary: Nanopore sequencing has great potential for clinical diagnostics, but further validation and certification are required.
Article
Multidisciplinary Sciences
Maria M. Szwarc, Ramakrishna Kommagani, Vasanta Putluri, Julien Dubrulle, Fabio Stossi, Michael A. Mancini, Cristian Coarfa, Rainer B. Lanz, Nagireddy Putluri, Francesco J. DeMayo, John P. Lydon, Bert W. O'Malley
SCIENTIFIC REPORTS
(2018)
Article
Multidisciplinary Sciences
Hong Zhao, Ling Zhou, Lin Li, John Coon, Robert T. Chatterton, David C. Brooks, Enze Jiang, Li Liu, Xia Xu, Zhiyong Dong, Francesco J. DeMayo, Jonah J. Stulberg, Warren G. Tourtellotte, Serdar E. Bulun
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2018)
Article
Endocrinology & Metabolism
Ru-pin Alicia Chi, Tianyuan Wang, Nyssa Adams, San-pin Wu, Steven L. Young, Thomas E. Spencer, Francesco DeMayo
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2020)
Article
Endocrinology & Metabolism
Gerardo G. B. Herrera, Sydney L. Lierz, Emily A. Harris, Lauren J. Donoghue, Sylvia C. Hewitt, Karina F. Rodriguez, Wendy N. Jefferson, John P. Lydon, Francesco J. DeMayo, Carmen J. Williams, Kenneth S. Korach, Wipawee Winuthayanon
Article
Medicine, Research & Experimental
Ru-pin Alicia Chi, Tianyuan Wang, Chou-Long Huang, San-pin Wu, Steven L. Young, John P. Lydon, Francesco J. DeMayo
Article
Multidisciplinary Sciences
Olga Kim, Eun Young Park, Sun Young Kwon, Sojin Shin, Robert E. Emerson, Yong-Hyun Shin, Francesco J. DeMayo, John P. Lydon, Donna M. Coffey, Shannon M. Hawkins, Lawrence A. Quilliam, Dong-Joo Cheon, Facundo M. Fernandez, Kenneth P. Nephew, Adam R. Karpf, Martin Widschwendter, Anil K. Sood, Robert C. Bast, Andrew K. Godwin, Kathy D. Miller, Chi-Heum Cho, Jaeyeon Kim
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Endocrinology & Metabolism
Leah Hawkins Bressler, Marc A. Fritz, San-Pin Wu, Lingwen Yuan, Suzanna Kafer, Tianyuan Wang, Francesco J. DeMayo, Steven L. Young
Summary: The study found reduced proliferation and angiogenesis markers, increased inflammation, and altered ER expression patterns in women with suboptimal endometrial thickening after clomiphene treatment. The results suggest potential mechanisms underlying the lower pregnancy rates associated with suboptimal endometrial thickening in these women.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Multidisciplinary Sciences
Andrew M. Kelleher, Rohit Setlem, Francoise Dantzer, Francesco J. DeMayo, John P. Lydon, W. Lee Kraus
Summary: This study found that catalytic inhibition or genetic ablation of PARP-1 and PARP-2 in the uterus led to pregnancy loss in mice, associated with increased p53 signaling and an increased population of senescent decidual cells, with decidualization failure being the cause of pregnancy loss.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Developmental Biology
Manoj K. Madhavan, Francesco J. DeMayo, John P. Lydon, Niraj R. Joshi, Asgerally T. Fazleabas, Ripla Arora
Summary: The uterine luminal epithelium folds characteristically in mammals, including humans, horses and rodents. However, the precise function of these folds remains unknown. This study reveals dynamic changes in the 3D uterine folding pattern during early pregnancy and suggests that the folds and chambers are two distinct structures with specific roles in implantation and post-implantation morphogenesis.
Article
Developmental Biology
Mackenzie J. Dickson, Yeong Seok Oh, Artiom Gruzdev, Rong Li, Nuria Balaguer, Andrew M. Kelleher, Thomas E. Spencer, San-Pin Wu, Francesco J. DeMayo
Summary: Approximately 75% of unsuccessful pregnancies are caused by implantation failure. This study developed a mouse strain with a decidual-specific iCre recombinase and confirmed its activity and tissue specificity during pregnancy. This research provides a valuable tool for investigating genetic networks and cellular dynamics associated with decidualization and infertility.
Article
Endocrinology & Metabolism
Sylvia C. Hewitt, San-pin Wu, Tianyuan Wang, Madhumita Ray, Marja Brolinson, Steven L. Young, Thomas E. Spencer, Alan DeCherney, Francesco J. DeMayo
Summary: This study investigates the molecular processes underlying estrogen responses and their effects on endometrial health. By analyzing the ESR1 cistromes and transcriptomes of endometrial biopsies and organoids, the study identifies candidate ESR1 target genes and reveals differences in the distribution and regulation of ESR1 binding sites between different stages of the menstrual cycle. The findings provide valuable resources for understanding how estrogen affects endometrial function and health.
Article
Biochemistry & Molecular Biology
Sylvia C. Hewitt, Artiom Gruzdev, Cynthia J. Willson, San-Pin Wu, John P. Lydon, Niels Galjart, Francesco J. DeMayo
Summary: Receptors for estrogen and progesterone interact via Cohesin/CTCF loop extrusion at enhancers distal from regulated genes. Loss-of- function CTCF mutation indicates its importance in uterine homeostasis. Deleting Ctcf gene in female reproductive tissues of mice resulted in reduced uterine glands and hypoplastic uteri with decreased endometrial stroma. Ctcf deletion also altered the expression of progesterone-responsive genes, including Ihh, Fst, and Errfi1. Our findings highlight the key role of uterine Ctcf in progesterone-dependent expression and optimal post-pubertal uterine development.
Article
Multidisciplinary Sciences
Rong Li, Tianyuan Wang, Ryan M. Marquardt, John P. Lydon, San-Pin Wu, Francesco J. DeMayo
Summary: Estrogen and progesterone regulate uterine biology through their receptors ERα and PR, respectively. This study identifies TRIM28 as a protein that interacts with ERα and PR to regulate uterine function. TRIM28 deficiency disrupts PR and ERα chromatin binding, resulting in the inability of the uterus to support early pregnancy.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Sylvia C. Hewitt, Artiom Gruzdev, Cynthia J. Willson, San-Pin Wu, John P. Lydon, Niels Galjart, Francesco J. DeMayo
Summary: Receptors for estrogen and progesterone interact through Cohesin/CTCF loop extrusion at enhancers distal from regulated genes. Loss-of-function CTCF mutation in endometrial tumors indicates its importance in uterine homeostasis. Our study reveals that uterine Ctcf plays a key role in progesterone-dependent expression of uterine genes underlying optimal post-pubertal uterine development.
Article
Multidisciplinary Sciences
San-Pin Wu, Tianyuan Wang, Zheng-Chen Yao, Mary C. Peavey, Xilong Li, Lecong Zhou, Irina V. Larina, Francesco J. DeMayo
Summary: PGR plays a pivotal role in directing the molecular program for uterine remodeling and pregnancy support. Mutant PGR can lead to dysfunction of the myometrium, affecting fertility and pregnancy adaptation.