Lack of HLH in FMF by Ozge Basaran, Erdal Sag, Elif Arslanoglu Aydın, Busra Aydın, Nur Kübra Tasdemir, Elif Celikel, Yagmur Bayındır, Semanur Özdel, Yelda Bilginer, Alexei A Grom, Seza Ozen

“…Familial Mediterranean Fever (FMF), an autosomal recessive disease, is characterized by recurrent fever episodes due to MEFV gene mutations. Despite intense inflammation in FMF, MAS is rare. …”
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Establishment and characterization of ovarian clear cell carcinoma patient-derived xenografts by Joseph J. Caumanns, Shang Li, Gert J. Meersma, Evelien W. Duiker, Ate G. J. van der Zee, G. Bea A. Wisman, Steven de Jong

“…ARID1A, PTEN, ATM, BRCA1 and PIK3CA mutations were found in matched tumors and PDXs. ARID1A protein loss was further verified by immunohistochemical staining. …”
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Cost-effectiveness of Ruxolitinib vs Best Available Therapy in the Treatment of Myelofibrosis in Spain by María Teresa Gómez-Casares, Juan Carlos Hernández-Boluda, Antonio Jiménez-Velasco, Joaquin Martínez-López, María Giovanna Ferrario, Irmina Gozalbo, Joana Gostkorzewicz, Rudi Subirá

“…Identification of the Janus Kinase (JAK) gene mutations inaugurated a new era in the targeted therapy of myeloproliferative diseases. …”
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Blood-based biomarkers in patients with non-small cell lung cancer treated with immune checkpoint blockade by Yo-Ting Tsai, Jeffrey Schlom, Renee N. Donahue

“…Here we review studies in which multiple blood-based biomarkers encompassing circulating soluble analytes, immune cell subsets, circulating tumor DNA, blood-based tumor mutational burden, and circulating tumor cells have shown promising associations with the clinical response of NSCLC patients to ICI therapy. …”
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Comparative gametogenesis and genomic signatures associated with pollen sterility in the seedless mutant of grapevine by Siddhi Chavan, Satish Phalake, Sujata Tetali, Vitthal T. Barvkar, Ravindra Patil

“…Genome sequence data was also used to identify induced mutations in the seedless mutant, which revealed three homozygous and 25 heterozygous InDels in the genes related to male gametophyte development. …”
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Networking Salt Inducible Kinase 1 Regulatory Perturbations on Type 2 Diabetes- Breast Cancer Co-Morbidity Associated Molecular Bridge by Durrani I.A., John P., Bhatti A.

“…To probe into its functional niche within the co-diseasome, this study constructed and subjected SIK1 associated regulome to network modelling. Gene mutations, and transcription factors (TF), hub proteins and microRNA (miRNA) associated with SIK1 and its protein-protein interactions (PPIs) were extracted from MuTarget and EnrichR, respectively. …”
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Discovery of amino acid substitutions in penicillin-binding proteins associated with adaptation to D-Ala-D-Lac in vancomycin-resistant Enterococcus faecalis by Nese Caglayan, Banu Sancak, Zeynep Kanlidere, Tanil Kocagoz, Tanil Kocagoz

“…Here, we performed Sanger sequencing and alignment of PBP genes from both vancomycin-susceptible and -resistant E. faecalis strains to identify mutations, following amplification by PCR. We then applied homology modeling to assess structural impacts of these changes on PBPs and conducted docking studies to investigate ligand-binding interactions. …”
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Disulfidptosis-related immune patterns predict prognosis and characterize the tumor microenvironment in oral squamous cell carcinoma by Xuechen Wu, Boxin Liu, Shi-Zhou Deng, Tengteng Xiong, Lin Dai, Bo Cheng

“…The analysis results showed that disulfidptosis was tightly related to immune cells, immunological-related pathways, the tumor microenvironment (TME), immune checkpoints, human leukocyte antigen (HLA), and tumor mutational burden (TMB). The nomogram, integrating the risk score and clinical factors, accurately predicted overall survival. …”
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An untargeted metabolomic analysis of acute AFB1 treatment in liver, breast, and lung cells. by Heidi H Cao, Sabrina Molina, Susan Sumner, Blake R Rushing

“…The mechanism in which AFB1 causes genetic mutations has been well studied, however its metabolomic effects remained largely unknown. …”
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The Rise of SARS-CoV-2 Variants and the Role of Convalescent Plasma Therapy for Management of Infections by Keneth Iceland, Kasozi

“…The SARSCov- 2 virus has undergone multiple mutations since its emergence in 2019, resulting in changes in virulence that have impacted on disease severity globally. …”
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Genetic Rescue of the Dinaric Lynx Population: Insights for Conservation From Genetic Monitoring and Individual‐Based Modelling by Elena Pazhenkova, Matej Bartol, Barbara Boljte, Urša Fležar, Andrea Gazzola, Tomislav Gomerčić, Marjeta Konec, Ivan Kos, Miha Krofel, Jakub Kubala, Ladislav Paule, Mihai Pop, Hubert Potočnik, Barbara Promberger, Robin Rigg, Teodora Sin, Magda Sindičić, Vedran Slijepčević, Astrid Vik Stronen, Ira Topličanec, Tomaž Skrbinšek

“…ABSTRACT Inbreeding depression poses a severe threat to small populations, leading to the fixation of deleterious mutations and decreased survival probability. While the establishment of natural gene flow between populations is an ideal long‐term solution, its practical implementation is often challenging. …”
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Non-small cell lung cancer and the tumor microenvironment: making headway from targeted therapies to advanced immunotherapy by Anna De Lucia, Lucia Mazzotti, Lucia Mazzotti, Anna Gaimari, Anna Gaimari, Matteo Zurlo, Roberta Maltoni, Claudio Cerchione, Sara Bravaccini, Angelo Delmonte, Lucio Crinò, Patricia Borges de Souza, Luigi Pasini, Fabio Nicolini, Fabrizio Bianchi, Manel Juan, Hugo Calderon, Chiara Magnoni, Chiara Magnoni, Luca Gazzola, Luca Gazzola, Paola Ulivi, Massimiliano Mazza

“…Nowadays, targeted therapies remain the gold standard for many patients, but still they suffer from many adverse effects, including unexpected toxicity and intrinsic acquired resistance mutations, which lead to relapse. The adoption of immune checkpoint inhibitors (ICIs) in 2015, has offered exceptional survival benefits for patients without targetable alterations. …”
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Bruton’s tyrosine kinase inhibition re-sensitizes multidrug-resistant DLBCL tumors driven by BCL10 gain-of-function mutants to venetoclax by Caroline A. Coughlin, Dhanvantri Chahar, Marianna Lekakis, Abdessamad A. Youssfi, Lingxiao Li, Evan Roberts, Natalia Campos Gallego, Claude-Henry Volmar, Ola Landgren, Shaun Brothers, Anthony J. Griswold, Catalina Amador, Daniel Bilbao, Francesco Maura, Jonathan H. Schatz

“…Here, we build on recent findings implicating gain-of-function mutations in the BCL10 signaling protein as drivers of resistance to Bruton’s tyrosine kinase (BTK) inhibitors. …”
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Targeting protein kinase C-α prolongs survival and restores liver function in sepsis: Evidence from preclinical models by Ling Xiong, Dustin Beyer, Na Liu, Tina Lehmann, Sophie Neugebauer, Sascha Schaeuble, Oliver Sommerfeld, Philipp Ernst, Carl-Magnus Svensson, Sandor Nietzsche, Sebastian Scholl, Tony Bruns, Nikolaus Gaßler, Markus H. Gräler, Marc Thilo Figge, Gianni Panagiotou, Michael Bauer, Adrian T. Press

“…Midostaurin is the clinically approved active pharmaceutical ingredient in Rydapt, approved for the adjuvant treatment of FTL3-mutated AML. Here, it reduced plasma bile acids and related inflammation in those patients, opening a translational avenue for therapeutics in sepsis. …”
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Structural insights into dynamics of the BMV TLS aminoacylation by Wen Yang, Ran Yi, Jing Yao, Yongxiang Gao, Shanshan Li, Qingguo Gong, Kaiming Zhang

“…Enzymatic assays further demonstrated the functional importance of TLS-TyrRS interactions, with mutations in key residues significantly impacting aminoacylation efficiency. …”
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Do wolframin, P-glycoprotein, and GRP78/BiP cooperate to alter the response of L1210 cells to endoplasmic reticulum stress or drug sensitivity? by Simona Kurekova, Lucia Pavlikova, Mario Seres, Viera Bohacova, Jana Spaldova, Albert Breier, Zdena Sulova

“…Wolframin is an ER transmembrane protein, product of the WFS1 gene whose mutations are associated with Wolfram syndrome. However, this protein is frequently overexpressed in cells undergoing ERS and its expression may accompany changes in the above ERS markers. …”
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Progress in the Management of Retinal Detachment Associated With Morning Glory Syndrome by Wu S, Wang W, Liu L, Wang W, Jiang K, Peng C, Sun H, Zhang J

“…The etiology of MGS is not fully understood but has been associated with genetic factors, particularly mutations in the PAX6 and PAX2 genes, which play critical roles in eye development. …”
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Comparison of clinical and pharmacodynamic features of proton pump inhibitors efficacy in gastroesophageal reflux disease by O. A. Storonova, A. S. Trukhmanov

“…Intensity of acid-suppressive action of PPI depends on drug metabolic pathways and genetically determined features of cytochrome P450 system. Mutations of CYP2C19 alleles allow to divide the studied patients population into groups of rapid, mediun and slow «metabolizers» that it is necessary to take into account at prescription of the certain drug. …”
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Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice by Steffen Mayerl, Andrea Alcaide Martin, Reinhard Bauer, Heike Heuer

“…Objective: Mutations in the thyroid hormone (TH) transporter monocarboxylate transporter 8 (MCT8) cause Allan–Herndon–Dudley syndrome (AHDS), a severe form of psychomotor retardation with muscle hypoplasia and spastic paraplegia as key symptoms. …”
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Multi-omics analysis reveals the sensitivity of immunotherapy for unresectable non-small cell lung cancer by Rui Wu, Kunchen Wei, Xingshuai Huang, Yinge Zhou, Xiao Feng, Xin Dong, Hao Tang

“…BackgroundTo construct a prediction model consisting of metabolites and proteins in peripheral blood plasma to predict whether patients with unresectable stage III and IV non-small cell lung cancer can benefit from immunotherapy before it is administered.MethodsPeripheral blood plasma was collected from unresectable stage III and IV non-small cell lung cancer patients who were negative for driver mutations before receiving immunotherapy. Then we classified samples according to the follow-up results after two courses of immunotherapy and non-targeted metabolomics and proteomics analyses were performed to select different metabolites and proteins. …”
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