Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations by Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura

“…We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.…”
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Application of Fuzzy Immune Algorithm and Soft Computing in the Design of 2-DOF PID Controller by Ning Ding, Priti Prabhakar, Anita Khosla, Vishal Jagota, Edwin Ramirez-Asis, Bhupesh Kumar Singh

“…To solve the difficulty in selecting the crossover probability and mutation probability in genetic algorithms, a fuzzy immune algorithm based on adaptive estimation of crossover probability and mutation probability in a fuzzy reasoning system is proposed, and it is used in the parameter optimization design of a two-degree-of-freedom PID controller. …”
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Nucleic Acid-Based Therapy Approaches for Huntington's Disease by Tatyana Vagner, Deborah Young, Alexandre Mouravlev

“…Since the mutation has multiple effects in the cell and the precise mechanism of the disease remains to be elucidated, gene therapy approaches have been developed that intervene in different aspects of the condition. …”
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Improved Whale Optimization Algorithm for Solving Constrained Optimization Problems by Gui-Ying Ning, Dun-Qian Cao

“…First, the standard WOA is improved from the three aspects of initial population, convergence factor, and mutation operation. At the same time, Gaussian mutation is introduced. …”
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Acute Limb Ischemia in the Young: A Rare Case of Essential Thrombocytosis by Johanes Nugroho, Ruth Gunadi

“…Laboratory data revealed she had a platelet count reaching up to 1.38 mil/μL, with other blood profiles being normal. A JAK2 mutation examination was later performed and proved positive. …”
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Cuproptosis-Related Signature Predicts the Prognosis, Tumor Microenvironment, and Drug Sensitivity of Hepatocellular Carcinoma by Xiangjun Qi, Jiayun Guo, Guoming Chen, Caishan Fang, Leihao Hu, Jing Li, Chi Zhang

“…The mRNA transcriptome profiling data, somatic mutation data, and copy number gene level data of The Cancer Genome Atlas-Liver Hepatocellular Carcinoma project (TCGA-LIHC) were downloaded for subsequent analysis. …”
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Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population by Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai

“…Our results indicate that mutations in TMPRSS3 account for about 4.6% (7/151) of Chinese ARNSHL cases lacking mutations in SLC26A4 or GJB2 and that the recurrent TMPRSS3 mutation p.Ala306Thr is likely to be a founder mutation.…”
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Analysis of Amino Acid Changes in the Fusion Protein of Virulent Newcastle Disease Virus from Vaccinated Poultry in Nigerian Isolates by Olubukola O. Funsho-Sanni, Elijah E. Ella, Lawal D. Rogo, Olufunsho S. Sanni, Helen I. Inabo, Sodangi A. Luka, Ismaila Shittu

“…Mutation in this A2 antigenic epitope has been reported to induce escape mutation to monoclonal antibodies generated using the NDV LaSota strain. …”
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Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant by Zhen Li, Zhen Li, Changming Han, Hongwei Zhao

“…The identification of this novel mutation enriches the spectrum of known SLC6A1 gene variants.…”
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Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granul... by Sanem Eren Akarcan, Neslihan Karaca, Guzide Aksu, Halil Bozkaya, Mehmet Fatih Ayik, Yasemin Ozdemir Sahan, Mehmet Arda Kilinc, Zafer Dokumcu, Cenk Eraslan, Emre Divarci, Hudaver Alper, Necil Kutukculer

“…A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. …”
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Huntington’s disease modeling on HEK293 cell line by D. V. Sharipova, T. B. Malankhanova, A. A. Malakhova

“…Our results indicate that the mutation in the first exon of HTT gene affects not only neurons, but also other types of cells, and HEK293 cell clones bearing the mutation can serve as in vitro model for studying some mechanisms of HTT functioning.…”
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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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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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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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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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