Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child by Dandan Shi, Nannan Li, Caifang Fan, Qiang Luo

“…Our findings offer valuable insights into the role of RORB in epilepsy pathogenesis, and the splice site variant identified in this study further expands the mutational spectrum of the RORB gene.…”
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Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males by Juliana Gabriel Ribeiro de Andrade, Antonia Paula Marques-de-Faria, Helena Campos Fabbri, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra

“…All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. …”
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Structural Variation of Element and Human Disease by Songmi Kim, Chun-Sung Cho, Kyudong Han, Jungnam Lee

“…According to the model, different subfamilies of Alu elements are created by mutations on the master gene and most Alu elements are amplified from the hyperactive master genes. …”
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Codeine 3-O-demethylase catalyzed biotransformation of morphinan alkaloids in Escherichia coli: site directed mutagenesis of terminal residues improves enzyme expression, stability... by Garrick W. K. Spencer, Xu Li, Kenny W. L. Lam, George Mutch, Fiona H. Fry, Sally L. Gras

“…This approach could be beneficial for screening future codeine 3-O-demethylase mutations and for other enzymes.…”
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PARP inhibition-associated heterochromatin confers increased DNA replication stress and vulnerability to ATR inhibition in SMARCA4-deficient cells by Kimiyoshi Yano, Megumi Kato, Syoju Endo, Taichi Igarashi, Ryoga Wada, Takashi Kohno, Astrid Zimmermann, Heike Dahmen, Frank T. Zenke, Bunsyo Shiotani

“…Abstract DNA replication stress (RS), a prevalent feature of various malignancies, arises from both genetic mutations and genotoxic exposure. Elevated RS levels increase the vulnerability of cancer cells to ataxia telangiectasia and Rad3-related kinase inhibitors (ATRis). …”
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Hemophagocytic Lymphohistiocytosis in a Patient with Classical Hodgkin Lymphoma by G. Hyun, K. J. Robbins, N. Wilgus, L. Grosso, S. D. Goyal

“…Hemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory syndrome that can be associated with inherited genetic mutations, malignancy, autoimmune disorders, and viral infections. …”
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Post-Translational Modifications of Proteins Orchestrate All Hallmarks of Cancer by Pathea Shawnae Bruno, Aneeta Arshad, Maria-Raluca Gogu, Natalie Waterman, Rylie Flack, Kimberly Dunn, Costel C. Darie, Anca-Narcisa Neagu

“…Post-translational modifications (PTMs) of proteins dynamically build the buffering and adapting interface between oncogenic mutations and environmental stressors, on the one hand, and cancer cell structure, functioning, and behavior. …”
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Integrated multi-omics analysis reveals clinical significance of hepatocyte nuclear factor-1β in tumor immune microenvironment, immunotherapy and prognostic prediction for colon ad... by Fushan Gao, Wenlin Gong, Haihua He, Zhen Zhang, Hongcai Yang, Fei Shao, Yibo Gao, Jie He

“…Abstract Background Research has consistently highlighted the key role of hepatocyte nuclear factor 1β (HNF1B) in organ development and cancer, including its involvement in colon cancer via shifted-code mutations. However, the specific effects of HNF1B on cancer immunotherapy and the immune microenvironment are not fully understood. …”
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Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome by Hao Zheng, Jun Xu, Yu Wang, Yun Lin, Qingqiang Hu, Xing Li, Jiusheng Chu, Changling Sun, Yongchuan Chai, Xiuhong Pang

“…As the most common causative gene for BORSD, dominant mutations in EYA1 are responsible for approximately 40% of the cases. …”
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Clonal Populations of Amniotic Cells by Dilution and Direct Plating: Evidence for Hidden Diversity by Patricia G. Wilson, Lorna Devkota, Tiffany Payne, Laddie Crisp, Allison Winter, Zhan Wang

“…Fetal cells are widely considered a superior cell source for regenerative medicine; fetal cells show higher proliferative capacity and have undergone fewer replicative cycles that could generate spontaneous mutations. Fetal cells in amniotic fluid were among the first normal primary cells to be cultured ex vivo, but the undefined composition of amniotic fluid has hindered advance for regenerative applications. …”
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The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current Research by Barbara Kraszewska-Głomba, Agnieszka Matkowska-Kocjan, Leszek Szenborn

“…The absence of a clear monogenic trait indicates a heterogenous, polygenic, or complex inheritance of PFAPA syndrome. As two mutations with a possible functional effect on the inflammasomes (MEFV E148Q and NLRP3 Q703K) have been found in several PFAPA cohorts, the role of inflammasome-related genes in PFAPA pathogenesis cannot be excluded. …”
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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. …”
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VAPB/ALS8 MSP ligands regulate striated muscle energy metabolism critical for adult survival in caenorhabditis elegans. by Sung Min Han, Hajer El Oussini, Jelena Scekic-Zahirovic, Jack Vibbert, Pauline Cottee, Jeevan K Prasain, Hugo J Bellen, Luc Dupuis, Michael A Miller

“…Mutations in VAPB/ALS8 are associated with amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), two motor neuron diseases that often include alterations in energy metabolism. …”
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Deciphering the interactome of Ataxin-2 and TDP-43 in iPSC-derived neurons for potential ALS targets. by Yuan Tian, Nicolette Heinsinger, Yinghui Hu, U-Ming Lim, Yi Wang, Aaron Zefrin Fernandis, Sophie Parmentier-Batteur, Becky Klein, Jason M Uslaner, Sean M Smith

“…Co-immunoprecipitation demonstrated that Ataxin-2 and TDP-43 interact, that their interaction is mediated through the RNA recognition motif (RRM) of TDP-43, and knocking down Ataxin-2 or mutating the RRM domains rescued TDP-43 toxicity in an iPSC-derived neuronal model with TDP-43 overexpression. …”
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Pan-Cancer Analysis of the Cuproptosis-Related Gene DLD by Jiahui Lin, Guowei Wang, Sha Cheng, Yanan Hu, Huan Li, Wanjiang Feng, Xiaoming Liu, Canxia Xu

“…The relationship of DLD with immune microenvironment immunomodulators, immune checkpoints, tumor mutational load (TMB), microsatellite instability (MSI), and oncology drug sensitivity was explored by correlation analysis. …”
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Inflammatory Bowel Disease: Progress Towards a Gene by David A van Heel, Jack Satsangi, Alisoun H Carey, Derek P Jewell

“…Animal studies have provided insights from targeted mutations and quantitative trait locus analysis. The goals of continuing research include narrowing the regions of linkages and analysis of candidate genes, and possibly the application of newly developed methods using single nucleotide polymorphisms. …”
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IAPSM’s Position Paper on Influenza Vaccines for Adult Immunization in India by Nikita Sharma, Madhur Verma, Kapil Goel, Muralidhar M. Kulkarni, Anu Bhardwaj, Sahil Sharma, Tejbeer Singh, Madhu Gupta, Anuradha Nadda, Lalit R. Sankhe

“…Current influenza vaccines have good safety profiles, vaccine efficacy, and acceptable cost-effectiveness. As the virus mutates, the vaccine composition should follow WHO recommendations for the current influenza season. …”
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TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis by Maryam Mukhtar, Nadeem Sheikh, Andleeb Batool, Tayyaba Saleem, Muhammad Babar Khawar, Mavra Irfan, Saira Kainat Suqaina

“…Allelic and genetic frequencies of polymorphisms identified on rs3764879 (TLR-8), rs3764880 (TLR-8), rs5744080 (TLR-8), rs1800629 (TNF), rs2228480 (ESR-1α), and rs1451501590 (ESR-1α) were significantly varied among RA, OA, and controls. Novel functional mutations SCV000844945 and SCV000844946 on TLR-8 as well as a non-functional SCV000804801 and functional variation SCV000804802 on ESR-1α were also identified and reported for the first time in the studied population. …”
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Colonic Adenocarcinoma with Plasmacytoid Feature: Histopathology and Molecular Characteristics of a Rare Neoplasm with an Unusual Presentation by Noor Marji, Jasrerman Dhillon, Gregory Y. Lauwers, Sebastian Feuerlein, Reza Nikfar, Monica Chatwal, Aram Vosoughi

“…Molecular studies identified BRAF V600E, SMAD4, and p53 mutations associated with aggressive colorectal adenocarcinoma with mucinous/signet ring cell features. …”
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“Approfittare del vuoto”? by Pier Paolo Viazzo, Roberta Clara Zanini

“…Dans une analyse stimulante des mutations sociodémographiques d’une communauté de communes du département de la Drôme, dans les Alpes françaises, Cognard (2006) a suggéré que ce processus de dépeuplement, désastreux à bien des égards, aurait en réalité créé les conditions favorisant des dynamiques opposées de néo-peuplement et de relance économique : des « espaces vides » se sont créés, permettant aux nouveaux habitants de s’insérer d’un point de vue économique et social. …”
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