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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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa

“…Whereas phenotypes of the index patients with mutated PKHD1, TMEM67, and PPOX corresponded with those elsewhere reported, how F11R variation underlies liver disease remains unclear. …”
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BRCA1 is involved in sustaining rapid antler growth possibly via balancing of the p53/endoplasmic reticulum stress signaling pathway by Qianqian Guo, Zhen Wang, Jiping Li, Chao Ma, Junjun Zheng, Hengxing Ba, Guokun Zhang, Chunyi Li

“…However, even subtle mutations in proliferating cells may cause detrimental effects by eliciting abnormal differentiation. …”
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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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Whole-genome sequencing-based characterization of Salmonella enterica Serovar Enteritidis and Kentucky isolated from laying hens in northwest of Iran, 2022–2023 by Shirin Vakili, Mehri Haeili, Adel Feizi, Kiarash Moghaddasi, Maryam Omrani, Arash Ghodousi, Daniela Maria Cirillo

“…Other identified antimicrobial resistance genes (ARGs) including tetA, floR, sul1, dfrA1, aph(3′)-Ia and double gyrA and parC mutations conferring high-level ciprofloxacin resistance (CIPR) (MIC ≥ 16mg/L) were only found in S. …”
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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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Non-cancerous CT findings as predictors of survival outcome in advanced non-small cell lung cancer patients treated with first-generation EGFR-TKIs. by Pakorn Prakaikietikul, Pattraporn Tajarenmuang, Phumiphat Losuriya, Natee Ina, Thanika Ketpueak, Thanat Kanthawang

“…<h4>Conclusion</h4>In advanced EGFR-mutated NSCLC patients, assessing pre-treatment prognosis is warranted to predict the survival outcome and guide decision regarding EGFR-TKI therapy. …”
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Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene by Jassin Hamidi, Yvonne Hanel, Sven Dittmann, Wanda Maria Gerding, Huu Phuc Nguyen, Karin Klingel, Eric Schulze-Bahr

“…This highlights the extreme rarity of this condition, making it challenging to ascertain the extent to which a presumably mutated hybrid myosin gene construct or the TTR amyloid fibrils contribute to stiffness, tissue fibrosis, and cardiac dysfunction. …”
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A Nomogram Built on Clinical Factors and CT Attenuation Scores for Predicting Treatment Response of Acute Myeloid Leukemia Patients by Linna Liu, Wenzheng Lu, Li Xiong, Han Qi, Robert Peter Gale, Bin Yin

“…While clinical factors such as age and genetic mutations contribute to prognosis, recent studies suggest that CT attenuation scores may also predict treatment outcomes. …”
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Inhibitory Mechanism of Robiotic Bacteria on The Growth of Vibrio harveyi in Tiger Shrimp (Penaeus monodon) Larvae by . Widanarni, E. Ayuzar, . Sukenda

“… Three probiotics named SKT-b, 1Ub, and Ua had inhibitory activity against the growth of Vibrio harveyi. These strains were mutated by rifampicin resistant. The inhibitory effect of SKT-b,1Ub, and Ua on the growth of V. harveyi was investigated by concomitant incubation of the two bacteria in a culture shrimp larvae. …”
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Establishment and characterization of a new mouse gastric carcinoma cell line, MCC by Yushen Wang, Xianju Li, Yi Wang, Jun Qin

“…Genomic and proteomic analyses identified mutations frequently observed in clinical gastric cancer patients, such as Kras, Egfr, and Ccnd3. …”
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Integrated analysis of cell cycle and p53 signaling pathways related genes in breast, colorectal, lung, and pancreatic cancers: implications for prognosis and drug sensitivity for... by Jiyauddin Khan, Priyanjana Ghosh, Urmi Bajpai, Kountay Dwivedi, Daman Saluja

“…Cancer progression often involves disruption in cell cycle regulation and signaling pathways, with mutations in genes like TP53, EGFR, and K-RAS playing significant roles. …”
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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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Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Nata... by M Makhetha, C Aldous, N Chabilal

“…None of the founder mutations common in white patients was reported in either black, Indian or coloured patients, which explains why black, Coloured and Indian SA patients consistently test negative during targeted screening. …”
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SLC22A1 rs622342 Polymorphism Predicts Insulin Resistance Improvement in Patients with Type 2 Diabetes Mellitus Treated with Metformin: A Cross-Sectional Study by Kunrong Wu, Xiaoli Li, Yuedong Xu, Xiaoqian Zhang, Ziwan Guan, Shufang Zhang, Yan Li

“…Organic cation transporter 1 (encoded by SLC22A1) is responsible for the transport of metformin, and ataxia-telangiectasia-mutated (ATM) is a gene relating to the DNA repair and cell cycle control. …”
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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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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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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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