Article
Genetics & Heredity
Matthieu Halfon, Li Zhang, Driss Ehirchiou, Vishnuprabu Durairaj Pandian, Suzan Dahdal, Uyen Huynh-Do, Andreas Pasch, Camillo Ribi, Nathalie Busso
Summary: The CD11B R77H gene variant is associated with increased serum calcification propensity and lower C3 levels in SLE patients, indicating an increased cardiovascular risk in homozygous individuals.
Article
Environmental Sciences
Chase M. O'Neil, Yuxi Guo, Steffan Pierre, Elizabeth H. Boughton, Jiangxiao Qiu
Summary: This research conducted a field experiment in subtropical wetlands in Florida, USA to investigate the impacts of invasive apple snails on wetland vegetation, water, and soil processes. The study found that the snails substantially decreased aboveground biomass and vegetation cover, increased water nutrients, and showed minimal impacts on soil pools and processes.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Biochemistry & Molecular Biology
Antonella Riva, Antonella Gambadauro, Valeria Dipasquale, Celeste Casto, Maria Domenica Ceravolo, Andrea Accogli, Marcello Scala, Giorgia Ceravolo, Michele Iacomino, Federico Zara, Pasquale Striano, Caterina Cuppari, Gabriella Di Rosa, Maria Concetta Cutrupi, Vincenzo Salpietro, Roberto Chimenz
Summary: MAC is a group of congenital eye anomalies that can affect one or both eyes. Variants in the KIF17 gene may be associated with microphthalmia and coloboma, highlighting a potential conserved role of this gene in eye development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Immunology
Viktoria Szeifert, Ferenc Kolonics, Balazs Bartos, Delaram Khamari, Pal Vagi, Laszlo Barna, Erzsebet Ligeti, Akos M. Lorincz
Summary: The study demonstrates that specific stimulation of Mac-1 integrin can initiate the release of anti-bacterial and pro-inflammatory extracellular vesicles (EVs), but only when neutrophils are activated on ligand coated surfaces. This process involves clustering of Mac-1 molecules and a strong calcium signal, showing that Mac-1 stimulation and clustering are necessary and sufficient for aEV biogenesis.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Edwin G. Pena-Martinez, Alejandro Rivera-Madera, Diego A. Pomales-Matos, Leandro Sanabria-Alberto, Brittany M. Rosario-Canuelas, Jessica M. Rodriguez-Rios, Emanuel A. Carrasquillo-Dones, Jose A. Rodriguez-Martinez
Summary: Genome-wide association studies have identified a large number of non-coding genomic variants that can alter DNA-binding of transcription factors and impact gene expression. In this study, the authors focused on NKX2-5, a transcription factor essential for heart development, and identified several single nucleotide polymorphisms that can change its binding affinity. Through in vitro validation, they found that some variants increased NKX2-5 binding, while one variant decreased binding. This study highlights the importance of considering differential TF-DNA binding affinity in understanding the causal mechanism of pathogenic variants.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
(2023)
Review
Oncology
Lara Gibellini, Rebecca Borella, Elena Santacroce, Eugenia Serattini, Federica Boraldi, Daniela Quaglino, Beatrice Aramini, Sara De Biasi, Andrea Cossarizza
Summary: This review discusses the emerging concepts in the field of neutrophils in cancer, summarizing recent findings that highlight the role of both circulating neutrophils and tumor-associated neutrophils in tumor prognosis and resistance to immune checkpoint inhibitors. Neutrophils are the most abundant myeloid cells in the blood and significant components of the tumor microenvironment. However, their functional importance has been overlooked in the past due to the perception of them as a mono-dimensional population of terminally differentiated, short-lived cells. The use of cutting-edge single-cell technologies has revealed the phenotypic and functional heterogeneity of neutrophils, leading to a new understanding of their significance in cancer.
Article
Biochemistry & Molecular Biology
Lisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, Silvia De Rubeis, Joseph Buxbaum, Cecilia Mancini, Alessandro Bruselles, Marco Tartaglia, Mauro Pessia, Stephen J. Tucker, Maria Cristina D'Adamo, Alfredo Brusco
Summary: In this study, biallelic missense variants in the KCNK18 gene were identified in a family with three siblings affected by mild-to-moderate ID, ASD, and other neurodevelopment-related features. Functional characterization of the variants showed impaired channel activity, particularly with the alteration of the Ser252 site leading to additive downstream effects. These findings expand the clinical variability associated with altered TRESK function and provide further insight into the relationship between altered function of this ion channel and human disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Critical Care Medicine
Jingjing Liang, Heming Wang, Brian E. Cade, Nuzulul Kurniansyah, Karen Y. He, Jiwon Lee, Scott A. Sands, Jennifer A. Brody, Han Chen, Daniel J. Gottlieb, Daniel S. Evans, Xiuqing Guo, Sina A. Gharib, Lauren Hale, David R. Hillman, Pamela L. Lutsey, Sutapa Mukherjee, Heather M. Ochs-Balcom, Lyle J. Palmer, Shaun Purcell, Richa Saxena, Sanjay R. Patel, Katie L. Stone, Gregory J. Tranah, Eric Boerwinkle, Xihong Lin, Yongmei Liu, Bruce M. Psaty, Ramachandran S. Vasan, Ani Manichaikul, Stephen S. Rich, Jerome I. Rotter, Tamar Sofer, Susan Redline, Xiaofeng Zhu
Summary: This study identified rare variants in the CAV1 gene that are associated with increased CAV1 gene expression and lower OSA severity, suggesting a novel target for modulating OSA severity.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2022)
Article
Biotechnology & Applied Microbiology
Kentaro Minegishi, Yoh Dobashi, Hiroyoshi Tsubochi, Koichi Hagiwara, Yuko Ishibashi, Sachiyo Nomura, Ritsuko Nakamura, Yasukazu Ohmoto, Shunsuke Endo
Summary: The study demonstrated that TFF-1 is expressed and secreted in adenocarcinoma-derived lung cancer cells, where its overexpression drives cell cycle transition and increases apoptosis, while suppressing cell migration and invasion. The suppressive effects on proliferation and migration can be restored by transfection of TFF-1 specific siRNA.
ONCOTARGETS AND THERAPY
(2021)
Article
Cell Biology
Danfeng Zhang, Jingcao Huang, Fangfang Wang, Hong Ding, Yushan Cui, Yan Yang, Juan Xu, Hongmei Luo, Yuhan Gao, Ling Pan, Yu Wu, Yuping Gong, Liping Xie, Zhigang Liu, Ying Qu, Li Zhang, Weiping Liu, Wenyan Zhang, Sha Zhao, Qing Yi, Ting Niu, Yuhuan Zheng
Summary: Multiple myeloma is a malignancy characterized by plasma cell accumulation in the bone marrow. Within the tumor microenvironment, macrophages in multiple myeloma exhibit pro-myeloma functions, which are modulated by the polycomb-group protein BMI1. Knockout of BMI1 in MM-associated macrophages leads to reduced proliferation, decreased expression of angiogenic factors, and loss of protection against chemotherapy-induced cell death, ultimately negating the pro-myeloma effects of these cells.
CELL DEATH & DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Joseph-Patrick W. E. Clarke, Patricia A. Thibault, Hannah E. Salapa, David E. Kim, Catherine Hutchinson, Michael C. Levin
Summary: The study demonstrates that mutations in the A1 gene result in cytoplasmic mislocalization of A1 protein, altered cluster dynamics, and enhanced stress granule formation. These findings support the hypothesis that dysfunction of A1 may exacerbate neurodegeneration in multiple sclerosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Cell Biology
Jessica Dal Col, Maria Julia Lamberti, Annunziata Nigro, Vincenzo Casolaro, Elisabetta Fratta, Agostino Steffan, Barbara Montico
Summary: Phospholipid scramblase 1 (PLSCR1) is a versatile protein involved in various cellular processes, including maintaining plasma membrane asymmetry, trafficking of molecules within intracellular vesicles, and regulating viral uptake and spread.
CELL COMMUNICATION AND SIGNALING
(2022)
Article
Allergy
Chao-Yi Wu, Wen-Lang Fan, Huang-Yu Yang, Pi-Shuang Chu, Pei-Chun Liao, Li-Chen Chen, Tsung-Chieh Yao, Kuo-Wei Yeh, Liang-Shiou Ou, Syh-Jae Lin, Wen- Lee, Jing-Long Huang
Summary: This study aimed to investigate the burden of PID-associated genetic variants in patients with childhood-onset systemic lupus erythematosus (cSLE). The study found that there were genetic variants associated with PID in cSLE patients, which may contribute to the susceptibility of cSLE.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Article
Genetics & Heredity
Karin Bolin, Juliana Imgenberg-Kreuz, Dag Leonard, Johanna K. Sandling, Andrei Alexsson, Pascal Pucholt, Malena Loberg Haarhaus, Jonas Carlsson Almlof, Joanne Nititham, Andreas Jonsen, Christopher Sjowall, Anders A. Bengtsson, Solbritt Rantapaa-Dahlqvist, Elisabet Svenungsson, Iva Gunnarsson, Ann-Christine Syvanen, Karoline Lerang, Anne Troldborg, Anne Voss, Oyvind Molberg, Soren Jacobsen, Lindsey Criswell, Lars Ronnblom, Gunnel Nordmark
Summary: The genetic variations in BANK1 are associated with lupus nephritis, and evidence suggests genetic regulation of DNA methylation within the BANK1 locus, indicating a role for BANK1 in the pathogenesis of lupus nephritis.
GENES AND IMMUNITY
(2021)
Article
Medical Laboratory Technology
Yi Zhang, Yijie Wang, Wei Wu, Ping Liu, Shanshan Sun, Meng Hong, Yuan Yuan, Qi Xia, Zhi Chen
Summary: This study analyzed the level of CEACAM1 in neutrophils and its roles in ischemic stroke patients at different stages. The results showed that the percentage of CEACAM1 positive neutrophils increased significantly in stroke patients, and the plasma CEACAM1 content also increased significantly in the subacute stage. CEACAM1 positive neutrophils had reduced cell viability compared to CEACAM1 negative neutrophils. Additionally, there was a positive correlation between CEACAM1 expression in neutrophils and plasma CEACAM1 and IL-10 content in the subacute group.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Genetics & Heredity
M. I. Danila, A. O. Westfall, K. Raman, L. Chen, R. J. Reynolds, L. B. Hughes, D. K. Arnett, G. McGwin, A. J. Szalai, D. M. van der Heijde, D. Conn, L. F. Callahan, L. W. Moreland, S. L. Bridges
GENES AND IMMUNITY
(2015)
Review
Gastroenterology & Hepatology
Long Zhang, Wei You, Hanze Zhang, Rui Peng, Qin Zhu, Aihua Yao, Xiangcheng Li, Yebin Zhou, Xuehao Wang, Liyong Pu, Jindao Wu
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2015)
Article
Immunology
Lin Zhang, Shan-Hui Liu, Tyler T. Wright, Zhi-Yuan Shen, Hai-Yun Li, Wei Zhu, Lawrence A. Potempa, Shang-Rong Ji, Alexander J. Szalai, Yi Wu
JOURNAL OF IMMUNOLOGY
(2015)
Article
Cell Biology
Yebin Zhou, Tiziana Di Pucchio, Gary P. Sims, Nanette Mittereder, Tomas Mustelin
MEDIATORS OF INFLAMMATION
(2015)
Article
Pediatrics
Jegen Kandasamy, Claire Roane, Alexander Szalai, Namasivayam Ambalavanan
PEDIATRIC RESEARCH
(2015)
Article
Oncology
Yun-Fei Duan, Feng Zhu, Xiao-Dong Li, Yong An, Hanze Zhang, Yebin Zhou, Xiaofei Zhang, Yong Jiang
Article
Biochemistry & Molecular Biology
Jie Li, Dong Wei, Mark A. McCrory, Alexander J. Szalai, Gangyi Yang, Ling Li, Fanghong Li, Allan Z. Zhao
BIOCHEMICAL JOURNAL
(2016)
Article
Urology & Nephrology
Weiyan Lai, Ying Tang, Xiao R. Huang, Patrick Ming-Kuen Tang, Anping Xu, Alexander J. Szalai, Tan-qi Lou, Hui Y. Lan
KIDNEY INTERNATIONAL
(2016)
Article
Hematology
Meaghan R. Bowling, Dongqi Xing, Akash Kapadia, Yiu-Fai Chen, Alexander J. Szalai, Suzanne Oparil, Fadi G. Hage
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2014)
Letter
Medicine, General & Internal
M. Mrug, J. Zhou, S. Mrug, L. M. Guay-Woodford, B. K. Yoder, A. J. Szalai
JOURNAL OF INTERNAL MEDICINE
(2014)
Article
Multidisciplinary Sciences
Yebin Zhou, Dennis F. Kucik, Alexander J. Szalais, Jeffrey C. Edberg
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2014)
Article
Physiology
Melissa A. Pegues, Ian L. McWilliams, Alexander J. Szalai
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
(2016)
Article
Immunology
Tyler T. Wright, Rachel V. Jimenez, Todd E. Morgan, Namrata Bali, Xiaogang Hou, Mark A. McCrory, Caleb E. Finch, Alexander J. Szalai
AUTOIMMUNE DISEASES
(2015)
Article
Veterinary Sciences
Mickie L. Powell, Melissa A. Pegues, Alexander J. Szalai, Vithal K. Ghanta, Louis R. D'Abramo, Stephen A. Watts
COMPARATIVE MEDICINE
(2015)