A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset by Ján Necpál, Martin Stelzer, Silvia Koščová, Michal Patarák

“…Various neurodegenerative disorders are manifested with CBS as a clinical phenotype, including corticobasal degeneration (CBD), progressive supranuclear palsy, Alzheimer’s disease, and CJD. In our patient, mutation E200K and M129M polymorphism of the PRNP gene and typical immunohistochemical findings pointed to a diagnosis of CJD. …”
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PHYSICOCHEMICAL PROPERTIES OF CULMS IN RYE (SECALE CEREALE L.) WITH A BRITTLE STEM by A. A. Konovalov, I. K. Shundrina, E. V. Karpova, V. I. Mamatyuk

“…On the contrary, a decrease in proportional limit and increase in shoot brittleness are observed. Possibly, the bs mutation, in addition to its direct action (culm brittleness) unbalances metabolic processes when forming secondary cellular walls and leads to a deviation from the optimum ratio of carbohydrate and aromatic components. …”
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Prevalence, Antibiotic Resistance, and Genetic Diversities of Clostridium difficile in Meat Nuggets from Various Sources in Isfahan, Iran by Parvin Ghorbani Filabadi, Ebrahim Rahimi, Amir Shakerian, Zahra Esfandiari

“…The isolated strains are toxigenic and resistant to antibiotics, except for vancomycin. A mutation would be the basis for the absence of the tcdC gene in the genome of all isolates.…”
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A Link between Autophagy and the Pathophysiology of LRRK2 in Parkinson's Disease by Patricia Gómez-Suaga, Elena Fdez, Marian Blanca Ramírez, Sabine Hilfiker

“…G2019S, the most prominent pathogenic mutation, maps to the kinase domain and enhances enzymatic activity of LRRK2, which in turn seems to correlate with cytotoxicity. …”
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Theoretical aspects of heterosis by L. V. Khotyleva, A. V. Kilchevsky, M. N. Shapturenko

“…We discussed some aspects concerning the role of mutation loads in the formation of heterotic phenotype. …”
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Runoff Prediction and Uncertainty Analysis for Xijiang River Basin Based on CMIP6 Climate Scenarios by WU Huiming, YAN Meng, ZHOU Shuai

“…Therefore, by taking the Xijiang River Basin, a region with frequent floods, as the research object, this paper adopts the Mann-Kendall mutation test and univariate linear regression methods to reveal the non-uniform characteristics of the basin's runoff sequences. …”
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Joint Optimization of Berths and Quay Cranes Considering Carbon Emissions: A Case Study of a Container Terminal in China by Houjun Lu, Xiao Lu

“…This study presents an integrated model that incorporates tidal factors into the joint optimization of berth and quay crane operations, addressing both service standards and emissions during port stays and crane activities, and further designs a PSO-GA hybrid algorithm, combining particle swarm optimization (PSO) with crossover and mutation operators from a genetic algorithm (GA), to enhance optimization accuracy and efficiency. …”
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Computationally expensive constrained problems via surrogate-assisted dynamic population evolutionary optimization by Zan Yang, Chen Jiang, Jiansheng Liu

“…The evolution strategies adapted to dynamic populations are designed to arrange targeted search resources for individuals with different potentials. Specifically, for mutation, targeted base solution selection for the top 2 and other center points is designed for emphasizing the exploitation in promising regions; for selection, the search sources arranged on the best and other population individuals are adaptively adjusted with the iteration progresses; for constraint handling, the diversity of infeasible solutions is integrated into the original constraint-domination principle to avoid the locality of only using constraint violation to rank infeasible solutions. …”
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Investigating Pb2 CAP-binding domain inhibitors from marine bacteria for targeting the influenza A H5N1. by Taha A Kumosani, Aymn T Abbas, Balogun Basheer, Ahmed M Hassan, Soonham S Yaghmoor, Areej H Alyahiby, Amer H Asseri, Vivek Dhar Dwivedi, Esam I Azhar

“…The ongoing increase in the prevalence and mutation rate of the influenza virus remains a critical global health issue. …”
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Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus by Michael S. Gordon, Murray B. Gordon

“…This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH.…”
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Exploring the genetic profiles linked to senescence in thyroid tumors: insights on predicting disease progression and immune responses by Baoliang Zhang, Yanping Pang

“…Differences in tumor mutation burden (TMB) and treatment response between high-risk and low-risk patient groups were also analyzed. …”
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The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? by Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M. Constantine Samaan

“…Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). …”
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A Satellite Observation Data Transmission Scheduling Algorithm Oriented to Data Topics by Hao Chen, Baorong Zhai, Jiangjiang Wu, Chun Du, Jun Li

“…In order to further enhance the performance and speed up the convergence process of our algorithm, a domain-knowledge-based mutation operator is designed. Quantitative experimental results show that the proposed algorithm is more effective to solve the satellite observation data topic transmission scheduling problem than that of the state-of-the-art approaches.…”
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Genetic optimization–based scheduling in maritime cyber physical systems by Tingting Yang, Hailong Feng, Jian Zhao, Ruilong Deng, Ying Wang, Zhou Su

“…Specially, the genetic based algorithm as well as the improved genetic based algorithm are described in detail, including a novel chromosome representation, a heuristic initialization procedure, as well as a modified crossover and mutation process. The effectiveness of the proposed schemes is verified by the simulation results.…”
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Nucleic acid amplification-based detection methods for SARS-CoV-2 variant detection: research progress review by Xia WU, Xiao ZHANG, Jiayi HAN, Fangxiao XING, Bixiong YE

“…SARS-CoV-2 is prone to mutation, resulting in variants with increased transmissibility, pathogenicity, and immune escape capabilities, posing a significant global threat. …”
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Histological Characterization of the Dicer1 Mutant Zebrafish Retina by Saeed Akhtar, Sarita Rani Patnaik, Rakesh Kotapati Raghupathy, Turki M. Al-Mubrad, John A. Craft, Xinhua Shu

“…In this study, we characterized a Dicer1 mutant fish line, which carries a nonsense mutation (W1457Ter) induced by N-ethyl-N-nitrosourea mutagenesis. …”
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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy by M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel

“…In a boy with features of a progressive central nervous system condition and adrenal failure, ABCD1 gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common ABCD1 mutation was identified in this patient, which is the first report of genetically confirmed ALD in Sub-Saharan Africa. …”
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Genomic Changes in an Attenuated ZB Strain of Foot-and-Mouth Disease Virus Serotype Asia1 and Comparison with Its Virulent Parental Strain by Aiguo Xin, Mingwang Zhu, Zhenqi Peng, Qi Hu, Chenhong Shi, Defang Liao, Jihua Wang, Huachun Li

“…The results showed that attenuation may be brought about by 28 common amino acid substitutions in the coding region, with one nucleotide point mutation in the 5′-untranslated region (5′-UTR) and another one in the 3′-UTR. …”
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Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report by Shahab Noorian, Hossein Moravej, Zhila Afshar, Afagh Hassanzadeh Rad, Setila Dalili

“…Genetic testing confirmed a PHKA2 mutation, and the patient’s management included frequent meals, cornstarch therapy, and regular liver function monitoring. …”
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RECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome by Raghib Ashraf, Hana Polasek-Sedlackova, Victoria Marini, Jana Prochazkova, Zdenka Hasanova, Magdalena Zacpalova, Michala Boudova, Lumir Krejci

“…We also observe that a mutation associated with Rothmund-Thomson syndrome, which produces a truncated RECQ4 unable to interact with MUS81, recapitulates these chromosome instability phenotypes. …”
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