Tracking the genetic diversity of SARS-CoV-2 variants in Nicaragua throughout the COVID-19 pandemic by Gerald Vásquez Alemán, Cristhiam Cerpas, Jose G. Juarez, Hanny Moreira, Sonia Arguello, Josefina Coloma, Eva Harris, Aubree Gordon, Shannon N. Bennett, Ángel Balmaseda

“…The study also linked specific viral mutations with hospitalization rates, emphasizing the clinical relevance of genomic surveillance. …”
Get full text

Immunopathogenesis of inflammatory bowel diseases by Ye. A. Konovich, I. L. Khalif, M. V. Shapina

“…Innate immunity changes revealed in last years, related to mutations of genes of bacterial structures receptors (NOD2, toll-like receptors, autophagy), cause disorder of endocellular signal processes and pathological activation of cells of adaptive immunodefense of intestinal mucosa and conforming profile of cytokines with development of chronic inflammation which will be mediated: at Crohn's disease – by Th1-and Th17-cells, cytokines IL-12, interferon-γ etc., at ulcerative colitis – by Th2-and NKT-cells, cytokines IL-4 and IL-3 in combination to incompetence of suppressor function of regulatory Т-cells and their cytokines TGF-β (transforming growth factor) and IL-10.Conclusion. …”
Get full text

Novel Polymorphism in a Promoter of MBL2 Gene Result in Lower MBL Expression in Chronic Infection Caused by HCV by Paywast Jamal Jalal

“…Interestingly, a new deletion of six nucleotides [AGGAAG] detected in the promoter at position -319 to -324 that succeeded by four other mutations at position -328, -336, -349 and -427 in most of the analyzed sequences. …”
Get full text

ParSite is a multicolor DNA labeling system that allows for simultaneous imaging of triple genomic loci in living cells. by Xiaohui He, Yadong Sun, Hanhui Ma

“…The tricolor ParSite system is derived from the T. thermophilus ParB/ParSc (TtParB/ParSc) system by rational design. We mutated the interface between TtParB and ParSc and generated a new pair of TtParBm and ParSm for genomic DNA labeling. …”
Get full text

Transcriptome-proteome integration analysis identifies elevated expression of LARP7 promoting the tumorigenesis and development of gastrointestinal stromal tumors by Heng Zheng, Yong Pan

“…Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the digestive tract, with c-kit and PDGFRA mutations being the primary causes. However, GIST pathogenesis is not still fully understood. …”
Get full text

Development of a Model Mutagenesis System for Snapdragon by Zhaoyuan Lian, Heqiang Huo, Sandra B. Wilson, Jianjun Chen

“…Furthermore, snapdragon has a mechanism by which transposable mutations can be regulated into active and inactive states through temperature control (Hashida et al., 2006). …”
Get full text

Development of a Model Mutagenesis System for Snapdragon by Zhaoyuan Lian, Heqiang Huo, Sandra B. Wilson, Jianjun Chen

“…Furthermore, snapdragon has a mechanism by which transposable mutations can be regulated into active and inactive states through temperature control (Hashida et al., 2006). …”
Get full text

The zebrafish moonshine gene encodes transcriptional intermediary factor 1gamma, an essential regulator of hematopoiesis. by David G Ransom, Nathan Bahary, Knut Niss, David Traver, Caroline Burns, Nikolaus S Trede, Noelle Paffett-Lugassy, Walter J Saganic, C Anthoney Lim, Candace Hersey, Yi Zhou, Bruce A Barut, Shuo Lin, Paul D Kingsley, James Palis, Stuart H Orkin, Leonard I Zon

“…Hematopoiesis is precisely orchestrated by lineage-specific DNA-binding proteins that regulate transcription in concert with coactivators and corepressors. Mutations in the zebrafish moonshine (mon) gene specifically disrupt both embryonic and adult hematopoiesis, resulting in severe red blood cell aplasia. …”
Get full text

The impact of PD-L1 polymorphisms on the efficacy of immune checkpoint inhibitors depends on the tumor proportion score: a retrospective study by Keiichiro Suminaga, Takashi Nomizo, Hironori Yoshida, Hiroaki Ozasa

“…We retrospectively extracted data on age, sex, smoking history, driver mutations, TPS, progression-free survival (PFS), and best response to ICI from medical records. …”
Get full text

Evolution of SARS-CoV-2 in white-tailed deer in Pennsylvania 2021-2024. by Andrew D Marques, Matthew Hogenauer, Natalie Bauer, Michelle Gibison, Beatrice DeMarco, Scott Sherrill-Mix, Carter Merenstein, Ronald G Collman, Roderick B Gagne, Frederic D Bushman

“…Multiple examples of recurrent mutations were identified associated with transmissions, suggesting WTD-specific evolutionary pressures. …”
Get full text

Integrin-mediated host cell invasion by type 1-piliated uropathogenic Escherichia coli. by Danelle S Eto, Tiffani A Jones, Jamie L Sundsbak, Matthew A Mulvey

“…Phosphorylation site mutations within the cytoplasmic tail of beta1 integrin that alter integrin signaling also variably affect UPEC entry into host cells, by either attenuating or boosting invasion frequencies. …”
Get full text

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants by Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

“…Variation types included nonsense (21%), missense (27%), frameshift mutations (39%), splicing (8%), and large fragment deletions (4%). …”
Get full text

A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

“…Abundantly expressed in the brain and involved in a broad range of cellular processes, PPP2R5D plays an essential role in modulating key neuronal pathways and signalling. Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. …”
Get full text

Oncogenic PIK3CA corrupts growth factor signaling specificity by Ralitsa R Madsen, Alix Le Marois, Oliwia N Mruk, Margaritis Voliotis, Shaozhen Yin, Jahangir Sufi, Xiao Qin, Salome J Zhao, Julia Gorczynska, Daniele Morelli, Lindsay Davidson, Erik Sahai, Viktor I Korolchuk, Christopher J Tape, Bart Vanhaesebroeck

“…Abstract Technical limitations have prevented understanding of how growth factor signals are encoded in distinct activity patterns of the phosphoinositide 3-kinase (PI3K)/AKT pathway, and how this is altered by oncogenic pathway mutations. We introduce a kinetic, single-cell framework for precise calculations of PI3K-specific information transfer for different growth factors. …”
Get full text

Personalized medicine: An alternative for cancer treatment by Devendra Singh, Vinay Kumar Dhiman, Minakshi Pandey, Vivek Kumar Dhiman, Avinash Sharma, Himanshu Pandey, Sunil Kumar Verma, Rajeev Pandey

“…Personalized medicine allows for the creation of focused medicines that address specific gene mutations by leveraging knowledge about a patient's cancer, including its genetic makeup. …”
Get full text

Epsin3 promotes non-small cell lung cancer progression via modulating EGFR stability by Huiling Su, Jie Shen, Chenzi Gao, Yue Zhao, Wanyu Deng, Bo Qin, Xin Zhang, Juan Lai, Qian Wang, Jie Dou, Min Guo

“…This stabilization of EGFR led to sustained downstream signalling, promoting NSCLC cell proliferation and migration. Notably, mutations in the EGFR tyrosine kinase domain, which typically confer resistance to TKIs, did not alter the regulatory effect of EPN3. …”
Get full text

Comprehensive landscape and oncogenic role of extrachromosomal circular DNA in malignant biliary strictures by Zhuo Cheng, Xuanmei Luo, Wenzheng Liu, Xiaofang Lu, Hong Chang, Yingchun Wang, Wei Zheng, Xiue Yan, Yonghui Huang

“…Bcf-eccDNAs carried cancer-related mutations, which could guide treatment. EccDNA carrying miR-106a/363 cluster or miR-374b/421 cluster were proven to regulate cancer gene expression, accelerate tumor proliferation, and inhibit tumor apoptosis. …”
Get full text

PARP Inhibitors in the Treatment of Ovarian Cancer by Andrzej Paweł Zuzak, Magdalena Cieślik-Porębska, Krzysztof Kułak, Jagoda Niewiadomska

“…Olaparib, niraparib, and rucaparib have become integral to ovarian cancer management, offering effective options for patients with BRCA mutations or homologous recombination deficiencies. …”
Get full text

RECQL4 requires PARP1 for recruitment to DNA damage, and PARG dePARylation facilitates its associated role in end joining by Mansoor Hussain, Prabhat Khadka, Komal Pekhale, Tomasz Kulikowicz, Samuel Gray, Alfred May, Deborah L. Croteau, Vilhelm A. Bohr

“…Abstract RecQ helicases, highly conserved proteins with pivotal roles in DNA replication, DNA repair and homologous recombination, are crucial for maintaining genomic integrity. Mutations in RECQL4 have been associated with various human diseases, including Rothmund–Thomson syndrome. …”
Get full text

Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction by Natsuko Inagaki, Yasuyoshi Takei, Tsuguhisa Hatano, Yasuyuki Takada, Yoshinao Yazaki, Hisanori Kosuge, Masatake Kobayashi, Shinji Suzuki, Tomohiro Umezu, Masahiko Kuroda, Kazuhiro Satomi, Takeharu Hayashi

“…Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in GLA, which encodes α-galactosidase A (GLA). …”
Get full text