Molecular Pathogenesis of MALT Lymphoma by Katharina Troppan, Kerstin Wenzl, Peter Neumeister, Alexander Deutsch

“…Interestingly, at least 3 different, apparently site-specific, chromosomal translocations and missense and frameshift mutations, all pathway-related genes affecting the NF-κB signal, have been implicated in the development and progression of MALT lymphoma. …”
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A Pediatric Case of Cowden Syndrome with Graves’ Disease by Cláudia Patraquim, Vera Fernandes, Sofia Martins, Ana Antunes, Olinda Marques, José Luís Carvalho, Jorge Correia-Pinto, Carla Meireles, Ana Margarida Ferreira

“…In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD). …”
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Potentiating intratumoral therapy with immune checkpoint inhibitors: shifting the paradigm of multimodality therapeutics by B.E. Nelson, A. Naing, S. Fu, R.A. Sheth, R. Murthy, S. Piha-Paul

“…The tumor microenvironment plays a critical role in immunotherapy resistance, characterized by immune cell composition, regulatory factors, and tumor mutational burden. Intratumoral immunotherapy, involving direct injection of immune-activating agents into tumors, holds promise for converting immunologically ‘cold’ tumors into responsive ‘hot’ tumors. …”
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Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS by Valentina Naef, Devid Damiani, Rosario Licitra, Maria Marchese, Stefania Della Vecchia, Matteo Baggiani, Letizia Brogi, Daniele Galatolo, Silvia Landi, Filippo Maria Santorelli

“…Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. …”
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The Desmosomal Plaque Proteins of the Plakophilin Family by Steffen Neuber, Mario Mühmer, Denise Wratten, Peter J. Koch, Roland Moll, Ansgar Schmidt

“…Thus, loss of functional PKP 1 in humans leads to ectodermal dysplasia/skin fragility (EDSF) syndrome, a genodermatosis with severe blistering of the epidermis as well as abnormal keratinocytes differentiation. Mutations in the human PKP 2 gene have been linked to severe heart abnormalities that lead to arrhythmogenic right ventricular cardiomyopathy (ARVC). …”
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The Roles of UmuD in Regulating Mutagenesis by Jaylene N. Ollivierre, Jing Fang, Penny J. Beuning

“…DNA damage that is not fully repaired can lead to mutations. Mutagenesis is now understood to be an active process, in part facilitated by lower-fidelity DNA polymerases that replicate DNA in an error-prone manner. …”
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SARS-CoV-2 drug resistance and therapeutic approaches by Sania Batool, Santosh Chokkakula, Ju Hwan Jeong, Yun Hee Baek, Min-Suk Song

“…By examining the complex interactions between the virus and its host, the review advocates for a multifaceted approach, including combination therapies, targeted drug development, and continuous surveillance of viral mutations. It also emphasizes the impact of evolving viral variants on antiviral efficacy and suggests adaptive treatment protocols. …”
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Biosynthesis and Role of N-Linked Glycosylation in Cell Surface Structures of Archaea with a Focus on Flagella and S Layers by Ken F. Jarrell, Gareth M. Jones, Divya B. Nair

“…The N-linked glycosylation system is not essential for any of M. voltae, M. maripaludis, or H. volcanii, as demonstrated by the successful isolation of mutants carrying deletions in the oligosaccharyltransferase gene aglB (a homologue of the eukaryotic Stt3 subunit of the oligosaccharyltransferase complex). However, mutations that affect the glycan structure have serious effects on both flagellation and S layer function.…”
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APC orchestrates microtubule dynamics by acting as a positive regulator of KIF2A and a negative regulator of CLASPs by Yong Wang, Xinping Liu, Zheng Liu, Shasha Hua, Kai Jiang

“…Further biochemical characterization and mutational analysis reveal key residues for the APC-KIF2A interaction. …”
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Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy by Svetlana F. Khaiboullina, Ekaterina V. Martynova, Sergey N. Bardakov, Mikhail O. Mavlikeev, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Albert A. Rizvanov

“…It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary muscles, the main pathological finding in LGMD2B patients. …”
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NHSL3 controls single and collective cell migration through two distinct mechanisms by Nikita M. Novikov, Jinmei Gao, Artem I. Fokin, Nathalie Rocques, Giovanni Chiappetta, Karina D. Rysenkova, Diego Javier Zea, Anna Polesskaya, Joelle Vinh, Raphael Guerois, Alexis M. Gautreau

“…Rescue with specific isoforms, and lack of rescue when relevant binding sites are mutated, establish that the interaction of a long isoform with MENA/VASP proteins is critical at cell-cell junctions for collective migration, while the interaction of a short one with 14-3-3θ in lamellipodia is critical for single cell migration. …”
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Active learning-assisted directed evolution by Jason Yang, Ravi G. Lal, James C. Bowden, Raul Astudillo, Mikhail A. Hameedi, Sukhvinder Kaur, Matthew Hill, Yisong Yue, Frances H. Arnold

“…However, DE can be inefficient when mutations exhibit non-additive, or epistatic, behavior. …”
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Plasma Membrane Targeting of Protocadherin 15 Is Regulated by the Golgi-Associated Chaperone Protein PIST by Hongyun Nie, Yueyue Liu, Xiaolei Yin, Huiren Cao, Yanfei Wang, Wei Xiong, Yushuang Lin, Zhigang Xu

“…Protocadherin 15 (PCDH15) is a core component of hair cell tip-links and crucial for proper function of inner ear hair cells. Mutations of PCDH15 gene cause syndromic and nonsyndromic hearing loss. …”
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Concurrent Malignant Solitary Fibrous Tumor Arising from the Omentum and Grade 3 Endometrial Endometrioid Adenocarcinoma of the Uterus with p53 Immunoreactivity by Naoya Harada, Ichiro Nobuhara, Noriko Haruta, Yumi Higashiura, Hideki Watanabe, Sumire Ohno

“…These tumors may have become malignant due to the presence of p53 mutations.…”
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Multifocal Aggressive Squamous Cell Carcinomas Induced by Prolonged Voriconazole Therapy: A Case Report by C. Morice, A. Acher, N. Soufir, M. Michel, F. Comoz, D. Leroy, L. Verneuil

“…Exploration of gene mutations involved in skin carcinogenesis showed two variants of the MICR gene. …”
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The modification of conventional liposomes for targeted antimicrobial delivery to treat infectious diseases by Nnamdi Ikemefuna Okafor, Omobolanle Ayoyinka Omoteso, Yahya E. Choonara

“…An appraisal of immunological, stimuli-responsive, biomimetic and functionalized liposomes and other novel modifications to conventional liposomes is assimilated in sync with mutations of resistant pathogens.…”
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The role of gene copy number variation in antimicrobial resistance in human fungal pathogens by Adarsh Jay, David F. Jordan, Aleeza Gerstein, Christian R. Landry

“…We find that in human fungal pathogens, there is little evidence that gene copy number plays a major role in the emergence of antifungal resistance compared to other types of mutations. We discuss why we might be underestimating their importance and new approaches being used to study them.…”
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Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome by F. Jaballah, R. Ben Soussia Nouira, S. Mallouli, H. Boussaid, S. Younes, L. Zarrouk, S. Younes

“…The comorbidity of psychotic symptoms noted in mitochondrial and psychiatric diseases has spurred interest in the effects of DNA mutations and psychiatric disorders. Case presentation. …”
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Targeting regulated cell death (RCD) with naturally derived sesquiterpene lactones in cancer therapy by Cong Xu, Shaodi Wen, Xiaoyue Du, Xinhua Zou, Elaine Lai-Han Leung, Guoren Zhou, Qibiao Wu, Bo Shen

“…Currently, known RCD types include apoptosis, autophagy, ferroptosis, necroptosis, cuproptosis, pyroptosis, and NETosis. Mutations in cancer cells may prevent the RCD pathway; therefore, targeting RCD in tumors has become a promising therapeutic approach. …”
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FBP1 Is an Interacting Partner of Menin by Shadia Zaman, Karen Sukhodolets, Patricia Wang, Jun Qin, David Levens, Sunita K. Agarwal, Stephen J. Marx

“…MEN1 is usually caused by mutations in the MEN1 gene that codes for the protein menin. …”
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