PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family by Xiaohong Meng, Qiyou Li, Hong Guo, Haiwei Xu, Shiying Li, Zhengqin Yin

“…Our results showed that two compound heterozygous CYP4V2 mutations caused BCD, and one missense mutation in PRPF3 was responsible for adRP in this large family. …”
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Circulating Free RNA as a Therapeutic Evaluation in Diffuse Large B-cell Lymphoma: A Case Series from the Indonesian Cancer Center by Noorwati Sutandyo, Ikhwan Rinaldi, Lyana Setiawan, Christine Sugiarto, Yuniar Harris Prayitno

“…The quantity of cfRNA was subsequently examined twice as matching samples from each patient, with the following results – (1) no mutations detected; (2) mutation detected solely in the second examination; (3) mutation only detected in the first examination; and (4) changes in gene mutations and mutation types. …”
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Identification of site-specific adaptations conferring increased neural cell tropism during human enterovirus 71 infection. by Samuel Cordey, Tom J Petty, Manuel Schibler, Yannick Martinez, Daniel Gerlach, Sandra van Belle, Lara Turin, Evgeny Zdobnov, Laurent Kaiser, Caroline Tapparel

“…Interestingly, this mutation was frequently associated in vitro with a second non-conservative mutation (E167G or E167A) in the VP1 EF loop in neuroblastoma cells. …”
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Impact of Inherited Prothrombotic Disorders on the Long-Term Clinical Outcome of Percutaneous Transluminal Angioplasty in Patients with Diabetes by Michal Dubský, Alexandra Jirkovská, Libuše Pagáčová, Robert Bém, Andrea Němcová, Vladimíra Fejfarová, Veronika Wosková, Edward B. Jude

“…Diagnosis of inherited thrombotic disorders included mutation in factor V (Leiden), factor II (prothrombin), and mutation in genes for methylenetetrahydrofolate reductase—MTHFR (C677T and A1298C). …”
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Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient by Debashish Mishra, Shefali Khanna Sharma, Aman Sharma, Sanjay Jain, Varun Dhir

“…On genetic analysis, she was found to be homozygous for mutation in NUDT15 (C415T) but was negative for mutation in TPMT. …”
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Study on Abnormal Transmission of Date Frames Based on PT-CAN Bus by Wen Fang, Chunhua Zhang, Yangyang Li, Baopeng Zhao

“…The real-time signal mutation value of PT-CAN was measured by the IBIM synthetic testing box, and the cause of abnormal transmission on the data bus was identified by the value of the signal mutation. …”
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Application of the Improved Grey Wolf Algorithm in Spacecraft Maneuvering Path Planning by Changqing Wu, Xiaodong Han, Weiyu An, Jianglei Gong, Nan Xu

“…In order to deal with this problem, the grey wolf algorithm is used for mutation and evolution, so as to reduce the difficulty of solving the problem and shorten the convergence time. …”
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Managing Air Traffic Flow With Link Flow Rate Control: A Pure Integer Programming Model With More Accurate Link Connection Modeling by Han Zhong, Lai Wei, Wei Guan, Wenyi Zhang

“…Besides a new chromosome coding rule for converting binary decision into time series vectors, the algorithm uses a taboo mutation operator and an adaptive mutation probability selection operator. …”
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Improved GOA-based fuzzy PI speed control of PMSM with predictive current regulation. by Taochang Li, Ang Li, Limin Hou

“…First, the diversity of the population and the global exploration capability of the algorithm are enhanced through the integration of the Cauchy mutation strategy and uniform distribution strategy. …”
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Hybrid Particle Swarm Optimization for Hybrid Flowshop Scheduling Problem with Maintenance Activities by Jun-qing Li, Quan-ke Pan, Kun Mao

“…In the proposed algorithm, different crossover operators and mutation operators are investigated. In addition, an efficient multiple insert mutation operator is developed for enhancing the searching ability of the algorithm. …”
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Estimation of the Genetic Substitution Rate of Hanwoo and Holstein Cattle Using Whole Genome Sequencing Data by Young-Sup Lee, Donghyun Shin

“…Despite the importance of mutation rate, some difficulties exist in estimating it. …”
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Evolutionary Theories of Aging and Longevity by Leonid A. Gavrilov, Natalia S. Gavrilova

“…At present the most viable evolutionary theories are the mutation accumulation theory and the antagonistic pleiotropy theory; these theories are not mutually exclusive, and they both may become a part of a future unifying theory of aging.…”
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Cloning, recombinant expression, and characterization of a Rhipicephalus microplus carboxylesterase. [version 1; peer review: 2 approved, 1 not approved] by Michel Labuschagne

“…Background The Rhipicephalus microplus carboxylesterase (CBE) is involved in synthetic pyrethroid (SP) hydrolysis and historic evidence suggests that a non-synonymous mutation (Asp374Asn) in CBE is associated with increased resistance towards SP-based acaricides. …”
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Central Retinal Vein Occlusion with Therapeutic Level of Anticoagulation by Sarwat Salim, Wai-Ching Lam, Wahid Hanna

“…To describe a patient with two episodes of deep venous thrombosis and factor V Leiden mutation who presented with central retinal vein occlusion (CRVO) despite prophylactic use of warfarin sodium (Coumadin). …”
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Trajectory Tracking Control of Wheeled Robot based on Neural Dynamic Mechanics with Parameter Adaptive by Zhang Wenchao, Jiang Qingjian

“…The experimental results show that the designed control method can ensure the robot have smaller velocity mutation,and convergence at a faster pace in case of error with high precision in trajectory tracking.…”
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Creation of body color mutants by CRISPR/Cas9 gene editing in largemouth bass, Micropterus salmoides by Lina Sun, Tian Gao, Zhiqiang Li, Xiaolong Yang, Zuliang Qin, Mingxiao Ye, Ying Li, Feilong Wang, Deshou Wang

“…Enzyme-digestion and sanger-sequencing demonstrated that the CRISPR/Cas9 system is available for the gene editing of LMB. The tyrb mutation resulted in reduced melanin and even albinism in eye and body of larvae, while the csf1ra mutation led to reddish body color, reduced xanthophores and melanophores in juvenile and adult fish with high mutation rate. …”
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Effects of EGFR-TKIs combined with intracranial radiotherapy in EGFR-mutant non-small cell lung cancer patients with brain metastases: a retrospective multi-institutional analysis by Mingfeng He, Xue Wu, Li Li, Guangming Yi, Yitian Wang, Hengqiu He, Ying Ye, Ruiqin Zhou, Zaicheng Xu, Zhenzhou Yang

“…In the multivariable analysis, metachronous BMs, EGFR L858R mutation and nonclassic EGFR mutation were identified as independent risk factors for OS, while a DS-GPA score of 2.0–4.0 was the only independent protective factor. …”
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Genetic characteristics of influenza A and B viruses circulating in Russia in 2019–2023 by Svetlana B. Yatsyshina, Anna A. Artamonova, Maria A. Elkina, Anna V. Valdokhina, Victoria P. Bulanenko, Aleksandra A. Berseneva, Vasily G. Akimkin

“…No oseltamivir and zanamivir resistance mutations in NA were detected in all tested influenza A(H3N2) and B viruses. …”
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FATIGUE DAMAGE ANALYSIS OF VIBRATING SCREEN UPPER BEAM BASED ON STRAIN MODAL ANALYSIS by ZHANG ZeRong, FAN ZhiMin, WANG YongYan, YANG FuQin, XU Jun

“…The results show that the modal frequencies and the displacement mode shapes have no obvious mutation between intact and damaged upper beam,but the strain mode shapes have mutation peaks at the location of the fatigue damage crack,furthermore,the bending strain mode is more sensitive to fatigue damage crack than the twisting strain mode.Thus a fatigue damage indicator is defined by using the strain modal variable ratio between the intact and damaged upper beam,the fatigue crack size is determined by damaged degree of the upper beam,then the residual life of fatigue crack propagation of the upper beam is calculated by the Paris formula of integral form. …”
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Les bouches d’aération du métro algérois, une source d’énergie inexploitée et un potentiel architectural inexploré by Khaled Athamena

“…This study presents furthermore paths of architectural mutation of the air vents, most often arranged at the ground level, in «ventilation towers» to limit their sanitary risk and provides ideas for their integration into the Algerian urban landscape. …”
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