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JOURNAL ARTICLE
Lu Liu, Shuang He, Lin Jia, Hua Yao, Dan Zhou, Xiaobin Guo, Lei Miao
OBJECTIVE: The Toll-like receptor (TLR) 4-mediated nuclear factor kappa B (NF-κB) signaling pathway regulates the production of inflammatory factors and plays a key role in the pathogenesis of gouty arthritis. The aim of the present study was to investigate the link among TLR4 gene polymorphisms at various loci, protein expression, and gouty arthritis susceptibility. METHODS: Between 2016 and 2021, a case-control study was used to collect a total of 1207 study subjects, including 317 male patients with gouty arthritis (gout group) and 890 healthy males (control group)...
2024: PloS One
#2
JOURNAL ARTICLE
Mei Sun, Zhe Zhang, Jingjing Zhang, Juewei Zhang, Zhuqiang Jia, Lin Zhao, Xin Han, Xiaohong Sun, Junwei Zong, Ying Zhu, Shouyu Wang
BACKGROUND: Previous observational studies have demonstrated a connection between the risk of Type 2 diabetes mellitus (T2DM) and gastrointestinal problems brought on by Helicobacter pylori (H. pylori) infection. However, little is understood about how these factors impact on T2DM. METHOD: This study used data from the GWAS database on H. pylori antibodies, gastroduodenal ulcers, chronic gastritis, gastric cancer, T2DM and information on potential mediators: obesity, glycosylated hemoglobin (HbA1c) and blood glucose levels...
2024: PloS One
#3
JOURNAL ARTICLE
Daniel E Jacobsen, Makaela M Montoya, Trent R Llewellyn, Kaitlyn Martinez, Kristen M Wilding, Kiersten D Lenz, Carrie A Manore, Jessica Z Kubicek-Sutherland, Harshini Mukundan
Universal and early recognition of pathogens occurs through recognition of evolutionarily conserved pathogen associated molecular patterns (PAMPs) by innate immune receptors and the consequent secretion of cytokines and chemokines. The intrinsic complexity of innate immune signaling and associated signal transduction challenges our ability to obtain physiologically relevant, reproducible and accurate data from experimental systems. One of the reasons for the discrepancy in observed data is the choice of measurement strategy...
2024: PloS One
#4
JOURNAL ARTICLE
Dong Ouyang, Yong Liang, Jinfeng Wang, Le Li, Ning Ai, Junning Feng, Shanghui Lu, Shuilin Liao, Xiaoying Liu, Shengli Xie
Existing studies have shown that the abnormal expression of microRNAs (miRNAs) usually leads to the occurrence and development of human diseases. Identifying disease-related miRNAs contributes to studying the pathogenesis of diseases at the molecular level. As traditional biological experiments are time-consuming and expensive, computational methods have been used as an effective complement to infer the potential associations between miRNAs and diseases. However, most of the existing computational methods still face three main challenges: (i) learning of high-order relations; (ii) insufficient representation learning ability; (iii) importance learning and integration of multi-view embedding representation...
April 2024: PLoS Computational Biology
#5
JOURNAL ARTICLE
Soo Heon Kwak, Ryan B Hernandez-Cancela, Daniel A DiCorpo, David E Condon, Jordi Merino, Peitao Wu, Jennifer A Brody, Jie Yao, Xiuqing Guo, Fariba Ahmadizar, Mariah Meyer, Murat Sincan, Josep M Mercader, Sujin Lee, Jeffrey Haessler, Ha My T Vy, Zhaotong Lin, Nicole D Armstrong, Shaopeng Gu, Noah L Tsao, Leslie A Lange, Ningyuan Wang, Kerri L Wiggins, Stella Trompet, Simin Liu, Ruth J F Loos, Renae Judy, Philip H Schroeder, Natalie R Hasbani, Maxime M Bos, Alanna C Morrison, Rebecca D Jackson, Alexander P Reiner, JoAnn E Manson, Ninad S Chaudhary, Lynn K Carmichael, Yii-Der Ida Chen, Kent D Taylor, Mohsen Ghanbari, Joyce van Meurs, Achilleas N Pitsillides, Bruce M Psaty, Raymond Noordam, Ron Do, Kyong Soo Park, J Wouter Jukema, Maryam Kavousi, Adolfo Correa, Stephen S Rich, Scott M Damrauer, Catherine Hajek, Nam H Cho, Marguerite R Irvin, James S Pankow, Girish N Nadkarni, Robert Sladek, Mark O Goodarzi, Jose C Florez, Daniel I Chasman, Susan R Heckbert, Charles Kooperberg, Josée Dupuis, Rajeev Malhotra, Paul S de Vries, Ching-Ti Liu, Jerome I Rotter, James B Meigs
OBJECTIVE: To identify genetic risk factors for incident cardiovascular disease (CVD) among people with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: We conducted a multiancestry time-to-event genome-wide association study for incident CVD among people with T2D. We also tested 204 known coronary artery disease (CAD) variants for association with incident CVD. RESULTS: Among 49,230 participants with T2D, 8,956 had incident CVD events (event rate 18...
April 23, 2024: Diabetes Care
#6
JOURNAL ARTICLE
Yunguang Qiu, Yuan Hou, Dhruv Gohel, Yadi Zhou, Jielin Xu, Marina Bykova, Yuxin Yang, James B Leverenz, Andrew A Pieper, Ruth Nussinov, Jessica Z K Caldwell, J Mark Brown, Feixiong Cheng
Shifts in the magnitude and nature of gut microbial metabolites have been implicated in Alzheimer's disease (AD), but the host receptors that sense and respond to these metabolites are largely unknown. Here, we develop a systems biology framework that integrates machine learning and multi-omics to identify molecular relationships of gut microbial metabolites with non-olfactory G-protein-coupled receptors (termed the "GPCRome"). We evaluate 1.09 million metabolite-protein pairs connecting 408 human GPCRs and 335 gut microbial metabolites...
April 21, 2024: Cell Reports
#7
JOURNAL ARTICLE
Alexandra Schäfer, Andrea Marzi, Wakako Furuyama, Nicholas J Catanzaro, Cameron Nguyen, Elaine Haddock, Friederike Feldmann, Kimberly Meade-White, Tina Thomas, Miranda L Hubbard, Kendra L Gully, Sarah R Leist, Pablo Hock, Timothy A Bell, Gabriela E De la Cruz, Bentley R Midkiff, David R Martinez, Ginger D Shaw, Darla R Miller, Michael J Vernon, Rachel L Graham, Dale O Cowley, Stephanie A Montgomery, Klaus Schughart, Fernando Pardo Manuel de Villena, Gregory K Wilkerson, Martin T Ferris, Heinz Feldmann, Ralph S Baric
Ebola virus (EBOV), a major global health concern, causes severe, often fatal EBOV disease (EVD) in humans. Host genetic variation plays a critical role, yet the identity of host susceptibility loci in mammals remains unknown. Using genetic reference populations, we generate an F2 mapping cohort to identify host susceptibility loci that regulate EVD. While disease-resistant mice display minimal pathogenesis, susceptible mice display severe liver pathology consistent with EVD-like disease and transcriptional signatures associated with inflammatory and liver metabolic processes...
April 21, 2024: Cell Reports
#8
JOURNAL ARTICLE
A Jay Freeman, Michael R Narkewicz
No abstract text is available yet for this article.
April 23, 2024: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
#9
JOURNAL ARTICLE
Laura Collignon, Kenn Holmbeck, Ashley Just, Lieven Verhoye, Rodrigo Velázquez-Moctezuma, Ulrik Fahnøe, Thomas H R Carlsen, Mansun Law, Jannick Prentoe, Troels K H Scheel, Judith M Gottwein, Philip Meuleman, Jens Bukh
BACKGROUND AIMS: HCV infection continues to be a major global health burden, despite effective antiviral treatments. The urgent need for a protective vaccine is hindered by the scarcity of suitable HCV permissive animal models tractable in vaccination and challenge studies. Currently, only antibody neutralization studies in infectious cell culture systems or studies of protection by passive immunization of human-liver chimeric mice offer the possibility to evaluate the effect of vaccine-induced antibodies...
April 23, 2024: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
#10
JOURNAL ARTICLE
Nathaniel K Mullin, Laura R Bohrer, Andrew P Voigt, Lola P Lozano, Allison T Wright, Vera L Bonilha, Robert F Mullins, Edwin M Stone, Budd A Tucker
While dysfunction and death of light-detecting photoreceptor cells underlie most inherited retinal dystrophies, knowledge of the species-specific details of human rod and cone photoreceptor cell development remains limited. Here, we generate retinal organoids carrying retinal disease-causing variants in NR2E3, as well as isogenic and unrelated controls. Organoids were sampled using single-cell RNA sequencing across the developmental window encompassing photoreceptor specification, emergence, and maturation...
April 23, 2024: Journal of Clinical Investigation
#11
JOURNAL ARTICLE
Yuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, Nao Nishida, Michihiro Kono, Mitsuki Sugihara, Yosuke Kawai, Minae Kawashima, Seik-Soon Khor, Kazuhiro Sugi, Hirotaka Kouno, Hiroshi Kouno, Atsushi Naganuma, Satoru Iwamoto, Shinji Katsushima, Kiyoshi Furuta, Toshiki Nikami, Tomohiko Mannami, Tsutomu Yamashita, Keisuke Ario, Tatsuji Komatsu, Fujio Makita, Masaaki Shimada, Noboru Hirashima, Shiro Yokohama, Hideo Nishimura, Rie Sugimoto, Takuya Komura, Hajime Ota, Motoyuki Kojima, Makoto Nakamuta, Naoyuki Fujimori, Kaname Yoshizawa, Yutaka Mano, Hironao Takahashi, Kana Hirooka, Satoru Tsuruta, Takeaki Sato, Kazumi Yamasaki, Yuki Kugiyama, Yasuhide Motoyoshi, Tomoyuki Suehiro, Akira Saeki, Kosuke Matsumoto, Shinya Nagaoka, Seigo Abiru, Hiroshi Yatsuhashi, Masahiro Ito, Kazuhito Kawata, Akinobu Takaki, Kuniaki Arai, Teruko Arinaga, Masanori Abe, Masaru Harada, Makiko Taniai, Mikio Zeniya, Hiromasa Ohira, Shinji Shimoda, Atsumasa Komori, Atsushi Tanaka, Kazuyoshi Ishigaki, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura
BACKGROUND AIMS: Previous genome-wide association studies (GWAS) have indicated the involvement of shared (population-non-specific) and non-shared (population-specific) susceptibility genes in the pathogenesis of primary biliary cholangitis (PBC) among European and East-Asian populations. Although a meta-analysis of these distinct populations has recently identified more than 20 novel PBC susceptibility loci, analyses of population-specific genetic architecture are still needed for a more comprehensive search for genetic factors in PBC...
April 23, 2024: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
#12
JOURNAL ARTICLE
Milankumar Prajapati, Jared Z Zhang, Lauren Chiu, Grace S Chong, Courtney J Mercadante, Heather L Kowalski, Bradley S Delaney, Jessica A Anderson, Shuling Guo, Mariam Aghajan, Thomas B Bartnikas
Manganese is an essential yet potentially toxic metal. Initially reported in 2012, mutations in SLC30A10 are the first known inherited cause of manganese excess. SLC30A10 is an apical membrane protein that exports manganese from hepatocytes into bile and from enterocytes into the lumen of the gastrointestinal tract. SLC30A10 deficiency results in impaired gastrointestinal manganese excretion, leading to manganese excess, neurologic deficits, liver cirrhosis, polycythemia, and erythropoietin excess. Neurologic and liver disease are attributed to manganese toxicity...
April 23, 2024: JCI Insight
#13
JOURNAL ARTICLE
Hannah Oh, Lusine Yaghjyan, Yujing J Heng, Bernard Rosner, Matt B Mahoney, Divya Murthy, Gabrielle M Baker, Rulla M Tamimi
BACKGROUND: According to the stem cell hypothesis, breast carcinogenesis may be related to the breast stem cell pool size. However, little is known about associations of breast cancer risk factors, such as anthropometric measures, with the expression of stem cell markers in non-cancerous breast tissue. METHODS: The analysis included 414 women with biopsy-confirmed benign breast disease (BBD) in the Nurses' Health Study (NHS) and NHSII. Birthweight, weight at age 18, current weight, and current height were reported via self-administered questionnaire...
April 23, 2024: Cancer Epidemiology, Biomarkers & Prevention
#14
JOURNAL ARTICLE
Gabriel Tchuente Kamsu, Eugene Jamot Ndebia
Tobacco is usually cited among the well-known risk factors of esophageal cancer, nevertheless, the extent of the contribution of the type of smoking and its intensity to the disease has not been comprehensively elucidated in Africa. We searched Medline/PubMed, Embase, Web of Science, Scopus, Cochrane Library, and African Journals Online studies published before September 2023. The quality of the studies was assessed using the Newcastle-Ottawa scale and the funnel plot was used for assessing potential publication bias...
April 23, 2024: Cancer Epidemiology, Biomarkers & Prevention
#15
JOURNAL ARTICLE
Giovanni Corso, Elena Marino, Cristina Zanzottera, Carla Oliveira, Loris Bernard, Debora Macis, Joana Figueiredo, Joana Pereira, Patrícia Carneiro, Giulia Massari, Massimo Barberis, Alessandra Margherita De Scalzi, Sergio Vincenzo Taormina, Elham Sajjadi, Claudia Sangalli, Sara Gandini, Oriana D'Ecclesiis, Cristina Maria Trovato, Anna Rotili, Filippo Pesapane, Luca Nicosia, Carlo La Vecchia, Viviana Galimberti, Elena Guerini-Rocco, Bernardo Bonanni, Paolo Veronesi
IMPORTANCE: Pathogenic or likely pathogenic (P/LP) germline CDH1 variants are associated with risk for diffuse gastric cancer and lobular breast cancer (LBC) in the so-called hereditary diffuse gastric cancer (HDGC) syndrome. However, in some circumstances, LBC can be the first manifestation of this syndrome in the absence of diffuse gastric cancer manifestation. OBJECTIVES: To evaluate the frequency of germline CDH1 variants in women with the hereditary LBC (HLBC) phenotype, somatic CDH1 gene inactivation in germline CDH1 variant carriers' tumor samples, and the association of genetic profiles with clinical-pathological data and survival...
April 1, 2024: JAMA Network Open
#16
JOURNAL ARTICLE
Tingyue Diao, Kang Liu, Junrui Lyu, Lue Zhou, Yu Yuan, Handong Yang, Tangchun Wu, Xiaomin Zhang
IMPORTANCE: The associations of changes in sleep patterns with incident cardiovascular disease (CVD) are not fully elucidated, and whether these associations are modified by genetic susceptibility remains unknown. OBJECTIVES: To investigate the associations of 5-year changes in sleep patterns with incident CVD and whether genetic susceptibility modifies these associations. DESIGN, SETTING, AND PARTICIPANTS: This prospective cohort study of the Dongfeng-Tongji cohort was conducted from 2008 to 2018 in China...
April 1, 2024: JAMA Network Open
#17
JOURNAL ARTICLE
Nantia Leonidou, Lisa Ostyn, Tom Coenye, Aurélie Crabbé, Andreas Dräger
Cystic fibrosis (CF), an inherited genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, results in sticky and thick mucosal fluids. This environment facilitates the colonization of various microorganisms, some of which can cause acute and chronic lung infections, while others may positively impact the disease. Rothia mucilaginosa , an oral commensal, is relatively abundant in the lungs of CF patients. Recent studies have unveiled its anti-inflammatory properties using in vitro three-dimensional lung epithelial cell cultures and in vivo mouse models relevant to chronic lung diseases...
April 23, 2024: Microbiology Spectrum
#18
JOURNAL ARTICLE
Prateek C Gowda, Alessio Gasperetti, Stefan L Zimmerman
We present a case of a young patient with chest pain. Labs and cardiac imaging were suspicious for acute myocarditis. Genetic testing revealed a diagnosis of desmoplakin cardiomyopathy. Desmoplakin cardiomyopathy may be considered in patients with recurrent acute myocarditis or a family history of cardiac disease to avoid the potential for misdiagnosis.
April 23, 2024: International Journal of Cardiovascular Imaging
#19
JOURNAL ARTICLE
Ivana Djordjevic, Nemanja Garai, Stojan Peric, Jelena Karanovic, Jovan Pesovic, Milos Brkusanin, Dragana Lavrnic, Slobodan Apostolski, Dusanka Savic-Pavicevic, Ivana Basta
Genome-wide association studies (GWAS) have provided strong evidence that early- and late-onset MG have different genetic backgrounds. Recent in silico analysis based on GWAS results revealed rs231735 and rs231770 variants within CTLA-4 locus as possible MG causative genetic factors. We aimed to explore the association of rs231735 and rs231770 with MG in a representative cohort of Serbian patients. We conducted an age-, sex-, and ethnicity-matched case-control study. Using TaqMan allele discrimination assays, the frequency of rs231735 and rs231770 genetic variants was examined in 447 AChR-MG patients and 447 matched controls...
April 23, 2024: Molecular Neurobiology
#20
JOURNAL ARTICLE
Xue Li, Zetian Guo, Yue Zhou, Baihong Zhang, Huaqin Ruan, Wenli Chen
We identify three SDEs that inhibiting host defence from Candidatus Liberibacter asiaticus psy62, which is an important supplement to the pathogenesis of HLB. Candidatus Liberibacter asiaticus (CLas) is the main pathogen of citrus Huanglongbing (HLB). 38 new possible sec-dependent effectors (SDEs) of CLas psy62 were predicted by updated predictor SignalP 5.0, which 12 new SDEs were found using alkaline phosphate assay. Among them, SDE4310, SDE4435 and SDE4955 inhibited hypersensitivity reactions (HR) in Arabidopsis thaliana (Arabidopsis, At) and Nicotiana benthamiana leaves induced by pathogens, which lead to a decrease in cell death and reactive oxygen species (ROS) accumulation...
April 23, 2024: Plant Cell Reports
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