An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy by Danny A. J. P. van de Sande, Jan Hoogsteen, Luc J. H. J. Theunissen

“…Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease with prevalence of 0.2% in the population. More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. …”
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Role of Extracellular Hemoglobin in Thrombosis and Vascular Occlusion in Patients with Sickle Cell Anemia by Zhou Zhou, Molly Behymer, Prasenjit Guchhait

“…Sickle cell anemia (SCA) is a common hemolytic disorder caused by a gene mutation in the β-globin subunit of hemoglobin (Hb) and affects millions of people. …”
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Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration by Jordi Gascon-Bayarri, Jaume Campdelacreu, Jordi Estela, Ramon Reñé

“…Hyperammonemia due to OTCD was diagnosed and a mutation was found. This allowed us to diagnose two other family members with unexplained encephalopathy who are now asymptomatic on a low-protein diet. …”
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A Conserved Di-Lysine Motif in the E2 Transactivation Domain Regulates MmuPV1 Replication and Disease Progression by Jessica Gonzalez, Marsha DeSmet, Elliot J. Androphy

“…Using site-directed mutagenesis, we show that the first lysine (K) residue within the motif, K112, is absolutely required for E2-mediated transcription and transient replication in vitro. Furthermore, mutation of the second lysine residue, K113, to the potential acetyl-lysine mimic glutamine (Q) abrogated E2 transcription and decreased transient replication in vitro, while the acetylation defective arginine (R) mutant remained functional. …”
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Multiobjective Electric Vehicle Charging Network Planning Considering Chance-Constraint on the Travel Distance for Charging by Yunxiang Guo, Xinsong Zhang, Daxiang Li, Chenghong Gu, Cheng Lu, Ting Ji, Yue Wang

“…The nondominated sorting genetic Algorithm II with the constraint domination principle (NSGA-II-CDP) is customized to solve the developed multiobjective EVCN planning model, by designing a special coding scheme, a crossover operator, and a mutation operator. Then, a maximum gradient principle of investment revenue is designed to select the optimal planning strategy from the Pareto-optimal solution set, when taking the investment return ratio as primary consideration. …”
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Failure Mechanism of Anchored Rock under Constant Resistance Values of Cable Based on Particle Flow Code by Xiaoming Sun, Li Cui, Yong Zhang, Zuoxun Jiang, Lei Wang

“…The results show that (1) during the compression failure process of the anchored rock, the stress-strain curve has a “double peak” feature, and the number of cracks has a “step” feature. The mutation point of the number of cracks corresponds to the two peak points of the stress-strain curve. (2) When the constant resistance value of the pallet is approximately 70%-80% of the absolute rigid support strength, the anchored rock has the maximum compressive strength, most stable deformation, maximum pallet energy absorption effect, and minimum number ratio of tensile-shear cracks. …”
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Attribution Analysis of Runoff Variation in the Yue River Watershed of the Qinling Mountains by Yiyi Hu, Yi He

“…Taking the Yue River watershed in the Qinling Mountains in China as the study area, the Mann–Kendall test and Pettitt mutation test method were used to analyze the various characteristics of hydrological and climatic elements from 1960 to 2018. …”
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OGG1 and MUTYH repair activities promote telomeric 8-oxoguanine induced senescence in human fibroblasts by Mariarosaria De Rosa, Ryan P. Barnes, Ariana C. Detwiler, Prasanth R. Nyalapatla, Peter Wipf, Patricia L. Opresko

“…OGG1 and MUTYH glycosylases initiate base excision repair (BER) to remove 8oxoG or prevent mutation. Here, we show OGG1 loss or inhibition, or MUTYH loss, partially rescues telomeric 8oxoG-induced premature senescence and associated proinflammatory responses, while loss of both glycosylases causes a near complete rescue in human fibroblasts. …”
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Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases by A. Chin, S. Balasubramanyam, C. M. Davis

“…We review the genetic defects underpinning elevated IgE and highlight the spectrum of atopy and immunodeficiency seen in patients with underlying mutations. Although no one mutation is completely causative of the constellation of symptoms in this patient, we suggest the synergism of these variants is an impetus of disease.…”
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Feline panleukopenia (review) by A. M. Kiselev, S. V. Shcherbinin, T. S. Galkina

“…Evolutionarily, the disease pathogen gave rise to anew infectious agent– canine parvovirus, which, despite its DNA structure, demonstrates a relatively high mutation rate and the emergence of new variants. The disease is in most cases fatal to newborn kittens and causes severe manifestations in adult cats, severely affecting the vital systems of the body. …”
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Development of a Driving Cycle for Fuzhou Using K-Means and AMPSO by Minrui Zhao, Hongni Gao, Qi Han, Jiaang Ge, Wei Wang, Jue Qu

“…On that basis, the K-means clustering method is used to cluster the dimensionally reduced data, and the adaptive mutation particle swarm optimization (AMPSO) algorithm is employed to select the optimal fragments from candidate fragments to develop a driving cycle. …”
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Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome by P. C. Johannesma, R. J. A. van Moorselaar, S. Horenblas, L. E. van der Kolk, E. Thunnissen, J. H. T. M. van Waesberghe, F. H. Menko, P. E. Postmus

“…Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). …”
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Study on the Lagging Support Mechanism of Anchor Cable in Coal Roadway Based on FLAC3D Modified Model by Xiangyu Wang, Guanghui Wang, Bowen Wu, Shuaigang Liu

“…Furthermore, the minimum principal stress and volume strain rate mutation point are used as the failure criteria of the anchor cable. …”
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Confirming Multiplex RT-qPCR Use in COVID-19 with Next-Generation Sequencing: Strategies for Epidemiological Advantage by Rob E. Carpenter, Vaibhav Tamrakar, Harendra Chahar, Tyler Vine, Rahul Sharma

“…All 78 samples were classified into WHO lineages by whole-genome sequencing and then compared with two commercially available RT-qPCR assays for spike protein mutation(s). The data showed good concordance between RT-qPCR and NGS analysis for specific SARS-CoV-2 lineages and characteristic mutations. …”
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Generational Expression of Muir-Torre Syndrome in a Canadian Family by Kaitlin Alexandra Vanderbeck, R. Gary Sibbald, Nirosha Murugan

“…She has a confirmed HMSH2 mutation. Recently she presented with two nodular lesions. …”
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Pathogenicity Assay of Vibrio harveyi in Tiger Shrimp Larvae Employing Rifampicin-Resistant as A Molecular Marker by . Widanarni, D. Meha, Sri Nuryati, . Sukenda, A. Suwanto

“…G3 and G7 that difference not schizotyping as shown by Pulsed-Filed Gel Electrophoresis (PFGE) used in this study. Spontaneous mutation was conducted to generate V. harveyi resistant to rifampicin. …”
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Clustering and Prediction Analysis of the Coordinated Development of China’s Regional Economy Based on Immune Genetic Algorithm by Yang Yang

“…Using the adaptive concept, the formulas of adaptive crossover probability and mutation probability are innovatively designed. Compared with the fixed value of the immune genetic algorithm, the introduction of the adaptive concept can intelligently adjust the optimization process and increase the optimization speed. …”
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Interplay between Epigenetics and Genetics in Cancer by Jae Duk Choi, Jong-Soo Lee

“…Genomic instability, which occurs through both genetic mechanisms (underlying inheritable phenotypic variations caused by DNA sequence-dependent alterations, such as mutation, deletion, insertion, inversion, translocation, and chromosomal aneuploidy) and epigenomic aberrations (underlying inheritable phenotypic variations caused by DNA sequence-independent alterations caused by a change of chromatin structure, such as DNA methylation and histone modifications), is known to promote tumorigenesis and tumor progression. …”
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An entropy based spatial–temporal cube with its application to assess stress of overburden due to mining by Changde Yang, Yang Chen, Binbin Yang, Chunshui Huang

“…Definitively, dynamic stress arches within the surrounding rock of the stope predominantly bear and distribute the load and pressure from the overlying rock, and each stress mutation is accompanied by a sudden stress entropy change. …”
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Management of Rett Syndrome in the Controlled Multisensory (Snoezelen) Environment. A Review with Three Case Stories by Meir Lotan

“…Rett syndrome (RS) is a neurological disorder resulting from an X-linked dominant mutation. It is characterized by a variety of physical and perceptual disabilities, resulting in a need for continuous intervention programs to be administered on a regular basis throughout life. …”
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