A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels by Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet

“…Further molecular tests including AZF microdeletion assay were done, and the results, which showed no mutations in the analyzed genes, were provided by the referring doctor. …”
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Alteration of Sarcoplasmic Reticulum Ca2+ Release in Skeletal Muscle from Calpain 3-Deficient Mice by Govindan Dayanithi, Isabelle Richard, Cédric Viero, Elsa Mazuc, Sylvie Mallie, Jean Valmier, Nathalie Bourg, Muriel Herasse, Isabelle Marty, Gérard Lefranc, Paul Mangeat, Stephen Baghdiguian

“…Mutations of Ca2+-activated proteases (calpains) cause muscular dystrophies. …”
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Enzymatic Activity Analysis and Catalytic Essential Residues Identification of Brucella abortus Malate Dehydrogenase by Xiangan Han, Yongliang Tong, Mingxing Tian, Yuxi Zhang, Xiaoqing Sun, Shaohui Wang, Xusheng Qiu, Chan Ding, Shengqing Yu

“…In addition, six amino acids in the MDH were mutated to investigate their roles in the enzymatic activity. …”
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Exploring the association between air pollution and the incidence of liver cancers by Xin Wu, Xin Zhang, Xiaopeng Yu, Hongyuan Liang, Shaoshan Tang, Yao Wang

“…Mechanistically, air pollutants may cause liver damage by inducing oxidative stress, inflammation, and genetic mutations, contributing to cancer development. Epidemiological evidence from cohort and geographic studies highlights a positive correlation between long-term exposure to air pollutants and elevated incidence and mortality of liver cancer. …”
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Exploring the Safety and Effects of COVID-19 Vaccination in Patients with Autoimmune Disease by Kirttna Solai Vairavan, Loh Teng-Hern Tan, Jodi Woan Fei Law, Priyia Pusparajah, Vengadesh Letchumanan

“…Vaccines are our most effective line of defense against the rapidly spreading and mutating virion. Still, there is significant vaccine hesitancy among those with autoimmune conditions who fear the vaccine may cause them more harm than good. …”
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Can Humanity Thrive Beyond the Galaxy? by Sayaka WAKAYAMA, Teruhiko WAKAYAMA

“…For example, when humans begin living and reproducing in space habitats or on other planets in the solar system, are there risks that future generations may suffer from adverse mutations induced by space radiation, or that embryos and fetuses will develop abnormally in gravitational environments that differ from that of Earth? …”
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Immunohistopathological Findings of Severe Cutaneous Adverse Drug Reactions by Mari Orime

“…AGEP typically shows spongiform superficial epidermal pustules accompanied with edema of the papillary dermis and abundant mixed perivascular infiltrates. Mutations in IL36RN may have a definite effect on pathological similarities between AGEP and generalized pustular psoriasis.…”
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Cellular Origins of Regenerating Nodules and Malignancy in the FAH Model of Liver Injury after Bone Marrow Cell Transplantation by Pei-Rong Wang, Yi Li

“…The FAH−/− mouse model was crossed with the ROSAnZ strain and their offspring was genotyped for FAH−/− and ROSAnZ mutations to create a new strain (Fah−/−-ROSAnZ). Using this strain as recipients, we performed bone marrow transplantation experiments. …”
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The Mammary Gland Carcinogens: The Role of Metal Compounds and Organic Solvents by Stephen Juma Mulware

“…Despite the fact that women who inherited mutations in the BRCA1 and BRCA2 genes have a high risk of developing breast cancer, studies have also shown that significant exposure to certain metal compounds and organic solvents also increases the risks of mammary gland carcinogenesis. …”
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Activation Mechanism of LRRK2 and Its Cellular Functions in Parkinson’s Disease by Katharina E. Rosenbusch, Arjan Kortholt

“…Roco proteins exhibit a complex activation mechanism involving intramolecular signaling, dimerization, and substrate/effector binding. Importantly, PD mutations in LRRK2 have been linked to a decreased GTPase and impaired kinase activity, thus providing putative therapeutic targets. …”
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Androgen receptor dynamics in prostate cancer: from disease progression to treatment resistance by Caihong Li, Dongkai Cheng, Peng Li

“…The androgen receptor (AR) on the X chromosome is a central driver in this process, activating genes that govern proliferation and survival. Mutations and amplifications of the AR are closely associated with disease progression and treatment resistance. …”
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Les agglomérations de Nyon, Lausanne et Yverdon (Suisse) : trois exemples de l’ouest du plateau suisse entre Antiquité tardive et haut Moyen Âge by Clément Hervé

“…This contribution gives a first review of archaeological data on Late Antiquity and Early Middle Age of Nyon, Lausanne and Yverdon — three urban areas which illustrate different urban and territorial mutations which occured during those periods in the Western part of the “Plateau suisse”. …”
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Study on the Precursors of Coal-Rock Fracture Based on the Maximum Lyapunov Exponent of Acoustic Emission Parameters by Guoqiang Cheng, Xiaohui Sun, Jiangong Li

“…When the maximum Lyapunov exponent of AE event number time series mutates, it indicates that the specimen is about to be destroyed entirely, which can be used as a precursor criterion for coal-rock fracture.…”
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Autophagy in brain tumors: molecular mechanisms, challenges, and therapeutic opportunities by Jiarui Zhang, Jinan Zhang, Chen Yang

“…However, brain tumors contribute to high levels of both mortality and morbidity globally, with resistance to treatments being acquired due to genetic mutations and dysregulation of molecular mechanisms, among other factors. …”
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Progress in immune microenvironment, immunotherapy and prognostic biomarkers in pediatric osteosarcoma by Lin Zhang, Haoming Jiang, Haichao Ma

“…It examines the impact of immune checkpoints, genetic mutations, and inflammatory pathways on osteosarcoma progression, highlighting their contribution to tumor immune evasion and disease advancement. …”
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Implications of intratumoral microbiota in tumor metastasis: a special perspective of microorganisms in tumorigenesis and clinical therapeutics by Lei Zhang, Xichu Duan, Yanhua Zhao, Dejiu Zhang, Yuan Zhang

“…Intratumoral microbiota can modulate tumor progression through multiple mechanisms, including regulating immune responses, inducing genomic instability and gene mutations, altering metabolic pathways, controlling epigenetic pathways, and disrupting cancer-related signaling pathways. …”
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Pseudomonas Aeruginosa and Cystic Fibrosis: Antibiotic Therapy and the Science behind the Magic by Noni E MacDonald

“…Recent research has also shown that antimicrobial therapy in CF may be effective not through eradication of the organism but by decreasing bacterial density and exoproduct production in the lung and thus decreasing inflammatory stimulus; by protecting against the consequences of an overexhuberant host response and in patients with stop mutations, potentially by correcting the gene defect. …”
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A Case of Essential Thrombocythemia and IgA Nephropathy with Literature Review of the Concurrence by Shoja Rahimian, Timothy Johnson, Ronald Herb

“…Pathological review of renal biopsy identified IgAN concurrently with newly diagnosed JAK2-mutated ET. The patient was started on aspirin therapy and closely monitored for his renal function. …”
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Targeting TRPM3 as a potential therapeutic approach for autosomal dominant polycystic kidney disease by Hüseyin Gül, Jamie A. Davies

“…Most ADPKD cases are caused by mutations in PKD1 or PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2). …”
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Study on the Optimization of Hub-and-Spoke Logistics Network regarding Traffic Congestion by Wei Xu, JinCan Huang, YanZhao Qiu

“…Given the complexity of the problem, the congestion cost function is linearized, and the mutational particle swarm optimization (MPSO) is employed for the solution. …”
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