FLT3 is associated with dendritic cell infiltration, tertiary lymphoid structure construction, and predict response to checkpoint inhibitors immunotherapy in solid cancers by Yongchang Tang, Hong Wang, Jiankun Zhang, Chunhui Yang, Fei Xu, Yan Song, Tianen Li, Qiangbo Zhang

“…FMS-like tyrosine kinase 3 (FLT3) is a frequently mutated gene in acute myeloid leukemia (AML). However, its role in solid cancers remains poorly understood. …”
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Heterogeneity of avian infectious bronchitis virus population by Ye. V. Ovchinnikova, L. O. Scherbakova, S. N. Kolosov, A. N. Andriyasova, N. G. Zinyakov, Z. B. Nikonova, A. A. Kozlov, P. B. Akshalova, D. A. Altunin, D. B. Andreychuk

“…Due to the lack of mechanisms to correct errors during genome replication, the virus can quickly mutate and generate new strains. This is facilitated by widespread use of live vaccines, simultaneous circulation of field viruses belonging to different serotypes in one flock and rapid spread of the virus. …”
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Evolving racial/ethnic disparities in AML survival in the novel therapy era by Xin Wang, Phyllis A. Gimotty, Andrew H. Matthews, Ronac Mamtani, Selina M. Luger, Elizabeth O. Hexner, Daria V. Babushok, Shannon R. McCurdy, Noelle V. Frey, Ximena Jordan Bruno, Saar Gill, Mary Ellen Martin, Vikram R. Paralkar, Ivan Maillard, David L. Porter, Alison W. Loren, Alexander E. Perl, Keith W. Pratz, Kelly D. Getz, Catherine Lai

“…Among patients receiving venetoclax-based induction, particularly those without TP53, RAS, or FLT3-ITD mutations, results suggested higher OS for NHB than NHW patients (aHR, 0.67; 95% CI, 0.45-1.01). …”
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Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project by Teresa Martín, Catarina Guimarães, Cristina Esquinas, Maria Torres-Duran, Alice M. Turner, Hanan Tanash, Carlota Rodríguez-García, Angelo Corsico, José Luis López-Campos, Eva Bartošovská, Jens-Ulrik Stæhr Jensen, José María Hernández-Pérez, Maria Sucena, Marc Miravitlles

“…Abstract Background The PI*S variant is one of the most prevalent mutations within alpha-1 antitrypsin deficiency (AATD). …”
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Expression of Wnt signaling proteins LEF1, β-catenin, GSK3β, DVL1, and N-myc varies across retinoblastoma subtypes and pRb phosphorylation status by Leon Marković, Anja Bukovac, Ana Maria Varošanec, Antonia Jakovčević, Davor Tomas, Zdenko Sonicki, Borna Puljko, Fran Dumančić, Reno Hrašćan, Nives Pećina-Šlaus

“…Retinoblastomas without germline mutations (RB1 +/+) exhibited high pRb, N-myc, and LEF1 levels, while those in genetically predisposed children (RB1 +/- ) showed lower expression of these proteins. …”
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Comparative cytogenetics of anembryonic pregnancies and missed abortions in human by T. V. Nikitina, E. A. Sazhenova, E. N. Tolmacheva, N. N. Sukhanova, S. A. Vasilyev, I. N. Lebedev

“…Thus, although the frequencies of some types of chromosomal pathology differ between AP and MA, the total frequency of chromosomal abnormalities in AP is not increased compared to MA, which indicates the need to search for the causes of AP at other levels of the genome organization, including microstructural chromosomal rearrangements, monogenic mutations, imprinting disorders, and epigenetic abnormalities.…”
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Deep learning–based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract by Shaohua Zhang, Yang Sun, Yinghong Ji, Li Ning, Binghe Xiao, Maierdanjiang Ainiwaer, Houyi Liu, Yingying Hong

“…The Cog4 p.Y714F variant exhibited greater protein structural similarity to mutated Cog4 found in Saul‒Wilson syndrome (p.G512R) and shared similar clinical phenotype (congenital cataract and psychomotor retardation). …”
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2′-Hydroxycinnamaldehyde induces ROS-mediated apoptosis in cancer cells by targeting PRX1 and PRX2 by Yae Jin Yoon, Yu-Jin Lee, Jiyeon Choi, Seung-Wook Chi, Sangku Lee, Kyung Chan Park, Byoung-Mog Kwon, Dong Cho Han

“…PRX1 has four cysteines (Cys52, Cys71, Cys83, and Cys173), and when Cys173 (but not the other cysteine sites) was mutated to serine, it was unable to bind biotin-conjugated HCA, suggesting that Cys173 is important for HCA binding. …”
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Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal by Raffaele Falsaperla, Vincenzo Sortino, Gerhard Josef Kluger, Thomas Herberhold, Andrea Rüegger, Pasquale Striano, Martino Ruggieri, Joerg Klepper, Georgia Ramantani

“…Genetic investigations revealed point mutations and deletions in two cases each. Despite an in‐depth search, no specific features were found to reliably distinguish KDT non‐responders from responders, underscoring the need for further research. …”
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Integrating machine learning and structure-based approaches for repurposing potent tyrosine protein kinase Src inhibitors to treat inflammatory disorders by Muhammad Waleed Iqbal, Muhammad Shahab, Zakir ullah, Guojun Zheng, Irfan Anjum, Gamal A. Shazly, Atrsaw Asrat Mengistie, Xinxiao Sun, Qipeng Yuan

“…Abstract Tyrosine-protein kinase Src plays a key role in cell proliferation and growth under favorable conditions, but its overexpression and genetic mutations can lead to the progression of various inflammatory diseases. …”
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Association Between Single-Nucleotide Polymorphisms in <i>Toll-like Receptor 3</i> (<i>tlr3</i>), <i>tlr7</i>, <i>tlr8</i> and <i>tirap</i> Genes with Severe Symptoms in Children P... by Adriana Souza Andrade, Aline Almeida Bentes, Lilian Martins Diniz, Silvia Hees Carvalho, Erna Geessien Kroon, Marco Antonio Campos

“…Comparing severe and critical cases to mild and moderate cases, we found a higher relative risk associated with mutations in <i>tlr8 (1)</i>, <i>tlr7</i>, <i>tlr3</i>, and <i>tirap</i> (<i>p</i> < 0.05). …”
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High-resolution Cryo-EM Structure Determination of a-Synuclein—A Prototypical Amyloid Fibril by Juan Sanchez, Joshua Pierson, Collin Borcik, Chad Rienstra, Elizabeth Wright

“…In addition, repetitions of specific mutations to the SNCA gene, the gene that encodes a-syn, result in an increased disposition for synucleinopathies. …”
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Coincidental or Connected: Synchronous Giant Gastric GIST and Malignant Colonic Polyp: A Case Report by Terukumar Chandrasekaran, Lim Li Yi, JJ Mah, RK Sriram, Nik Amin Sahid

“…GIST tumours arise from the interstitial cells of Cajal and are characterized by mutations in KIT/PDGFRA genes. Conversely, malignant polyps are epithelial tumours that arise from the colonic mucosa classically because of alterations in the APC tumour suppressor gene, resulting in overactivation of the Wnt/β-catenin signaling pathway. …”
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Venetoclax plus low-intensity chemotherapy for adults with acute lymphoblastic leukemia by Marlise R. Luskin, Shai Shimony, Julia Keating, Eric S. Winer, Jacqueline S. Garcia, Richard M. Stone, Elias Jabbour, Yael Flamand, Kristen Stevenson, Jeremy Ryan, Zhihong Zeng, Anthony Letai, Marina Konopleva, Nitin Jain, Daniel J. DeAngelo

“…Among patients with newly diagnosed ALL, 10 of 11 (90.9%) achieved a measurable residual disease–negative (<0.01% sensitivity) complete remission (CR) including 6 patients with hypodiploid TP53-mutated ALL. All patients in CR bridged to hematopoietic stem cell transplant (n = 9) or completed protocol (n = 1). …”
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Bacterial contamination in public transport during COVID-19 pandemic: Characterization of an unusual Staphylococcus aureus isolate tolerant to vancomycin by Eva Smelikova, Marcela Krutova, Vaclav Capek, Marie Brajerova, Pavel Drevinek, Jan Tkadlec

“…Population analysis profile-area under the curve ratio (PAP-AUC) testing did not confirm the hVISA phenotype, but mutations in the hVISA phenotype-related gene vraR and other genes related to cell wall synthesis (fmtB) and intercellular adhesion (sasC) were found. …”
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CD36 inhibition enhances the anti-proliferative effects of PI3K inhibitors in PTEN-loss anti-HER2 resistant breast cancer cells by You-Yu Liu, Wei-Lun Huang, Sin-Tian Wang, Hui-Ping Hsu, Tzu-Ching Kao, Wei-Pang Chung, Kung-Chia Young

“…However, subsequent reprogramed tumor progression due to PI3K signaling pathway activation by PIK3CA mutations and/or PTEN-loss cause anti-HER2 resistance. …”
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Peripheral lncRNA NEAT-1, miR374b-5p, and IL6 panel to guide in COVID-19 patients' diagnosis and prognosis. by Marwa A Ali, Olfat G Shaker, Eman M Ezzat, El Shaimaa Gomaa Ali, Mahmoud I Aboelor, Mona I Ahmed, Essam A Hassan, Doaa Y Ali, Heba Mostafa Ahmed, Abeer A Khalefa, Rasha A Hussein, Ahmed Fathy Elkhateeb, Esam Ali Mohamed

“…<h4>Background</h4>The SARS-CoV-2 virus's frequent mutations have made disease control with vaccines and antiviral drugs difficult; as a result, there is a need for more effective coronavirus drugs. …”
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Transcriptomic and genetic analysis reveals a Zn2Cys6 transcription factor specifically required for conidiation in submerged cultures of Thermothelomyces thermophilus by Florian Drescher, Yang Li, Jose Manuel Villalobos-Escobedo, Stefan Haefner, Lori B. Huberman, N. Louise Glass

“…In this study, we use transcriptional profiling of asexual development in T. thermophilus and identify a transcription factor that specifically regulates the developmental switch to the production of unwanted asexual propagules under fermentation conditions, thus altering secreted protein production. Mutations in this transcription factor Res1 result in the loss of asexual development in submerged cultures but do not affect asexual sporulation when exposed to air. …”
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Predictive value of dendritic cell-related genes for prognosis and immunotherapy response in lung adenocarcinoma by Zihao Sun, Mengfei Hu, Xiaoning Huang, Minghan Song, Xiujing Chen, Jiaxin Bei, Yiguang Lin, Size Chen

“…We found that patients with a high-DCRGS score had immunosuppression, activated tumor-associated pathways, and elevated somatic mutational load and copy number variant load. In contrast, patients in the low-DCRGS subgroup were resistant to chemotherapy but sensitive to the CTLA-4 immune checkpoint inhibitor and targeted therapy. …”
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TAB2 deficiency induces dilated cardiomyopathy by promoting mitochondrial calcium overload in human iPSC-derived cardiomyocytes by Wenrui Sun, Jianchao Zhang, Shuang Li, Wanrong Fu, Yangyang Liu, Mengduan Liu, Jianzeng Dong, Xiaoyan Zhao, Xiaowei Li

“…Abstract Background TGF-β-activated kinase 1 binding protein 2 (TAB2) is an intermediary protein that links Tumor necrosis factor receptor 1 (TNFR1) and other receptor signals to the TGF-β-activated kinase 1 (TAK1) signaling complex. TAB2 frameshift mutations have been linked to dilated cardiomyopathy (DCM), while the exact mechanism needs further investigation. …”
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