Evolutionary Traits and Genomic Surveillance of SARS-CoV-2 in South America by Pablo A. Ortiz-Pineda, Carlos H. Sierra-Torres

“…Such molecular analysis of SARS-CoV-2 dynamics showed that rates of mutation, similar to other members of the Coronaviridae family, along with natural selection forces, could result in the emergence of new variants; few of them might be of high consequence. …”
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Papillion-Lefèvre Syndrome: Periodontists’ Perspective by Sunil Kumar Biraggari, K. Krishna Mohana Reddy, J. Sudhakar, Shiva Shankar Bugude, Rajesh Nichenametla, Mazher Ahmed Hakeem, Swati Reddy Tiyyagura

“…Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. …”
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MLP Enhanced CO2 Emission Prediction Model with LWSSA Nature Inspired Optimization by Agoub Abdulhafith Younes Mussa, Wagdi M. S. Khalifa

“…The LWSSA improves the standard Salp Swarm Algorithm (SSA) by incorporating a Locally Weighted Mechanism (LWM) and a Mutation Mechanism (MM) for greater exploration and exploitation. …”
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An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission by Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer

“…The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. …”
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Endometrioid Paraovarian Borderline Cystic Tumor in an Infant with Proteus Syndrome by Liliana Vasquez, Mariela Tello, Ivan Maza, Monica Oscanoa, Milagros Dueñas, Haydee Castro, Alan Latorre

“…There is an association between genital tract tumors and Proteus syndrome, a rare, sporadic, and progressive entity, characterized by a postnatal overgrowth in several tissues caused by a mosaic mutation in the AKT1 gene. We describe a 20-month-old asymptomatic infant with Proteus syndrome who developed an endometrioid paraovarian borderline cystic tumor. …”
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Data Imputation for Detected Traffic Volume of Freeway Using Regression of Multilayer Perceptron by Xiang Wang, Yingying Ma, Shengwen Huang, Yu Xu

“…Meanwhile, the proposed model has higher imputation accuracy for the traffic volume data with a lower degree of mutation. Lastly, the performance of the proposed model of imputation in short-term traffic volume prediction is discussed using the support vector machine. …”
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GENETIC CHARACTERIZATION OF AVIAN INFECTIOUS BRONCHITIS VIRUS ISOLATES RECOVERED IN CIS COUNTRIES IN 2015–2017 by L. O. Scherbakova, S. N. Kolosov, Z. B. Nikonova, N. G. Zinyakov, Ye. V. Ovchinnikova, I. A. Chvala

“…However, control of the virus is very complicated due to its high variability. The mutation frequency in the hypervariable region of the S1 gene of the virus isolated from the vaccinated birds annually amounts to 1.5%. …”
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MOFSRank: A Multiobjective Evolutionary Algorithm for Feature Selection in Learning to Rank by Fan Cheng, Wei Guo, Xingyi Zhang

“…Then on the selected instance subsets, a multiobjective feature selection algorithm with an adaptive mutation is developed, where good feature subsets are obtained by selecting the features with high ranking accuracy and low redundancy. …”
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From Melanocyte to Metastatic Malignant Melanoma by Bizhan Bandarchi, Linglei Ma, Roya Navab, Arun Seth, Golnar Rasty

“…There is a complex interaction of environmental (exogenous) and endogenous, including genetic, risk factors in developing malignant melanoma. 8–12% of familial melanomas occur in a familial setting related to mutation of the CDKN2A gene that encodes p16. The aim of this is to briefly review the microanatomy and physiology of the melanocytes, epidemiology, risk factors, clinical presentation, historical classification and histopathology and, more in details, the most recent discoveries in biology and genetics of malignant melanoma. …”
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Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature by Anolys Narciso Piña Rodríguez, Osiris Intento García, Sady Montes Amador

“…Baller-Gerold syndrome is secondary to mutations in the RECQL4 gene (8q24.3). This gene belongs to the RecQhelicase family and is implicated in other diseases predisposing to cancer. …”
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Iron- Refractory Iron Deficiency Anemia: Review Article by Eman Ahmed Abd -Elmawgood, Mohammed H. Hassan, Dina Hussein Mobark, Nagwan Ibrahim Rashwan

“…Despite the fact that effectiveness of oral iron therapy can depend on the degree of TMPRSS6 gene mutation. There are other therapies that either partially or totally correct anaemia such as intravenous iron infusions ,liposomal oral iron therapy ,anti hepcidin antibody and other information discussed later in these article . …”
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Heme Oxygenase-1: A Critical Link between Iron Metabolism, Erythropoiesis, and Development by Stuart T. Fraser, Robyn G. Midwinter, Birgit S. Berger, Roland Stocker

“…Linked with this pressure is the necessity of the embryo to obtain and transport iron, synthesize hemoglobin, and then dispose of the potentially toxic heme via the stress-induced protein heme oxygenase-1 (HO-1, encoded by Hmox1 in the mouse). Null mutation of Hmox1 results in significant embryonic mortality as well as anemia and defective iron recycling. …”
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Application of Multiobjective Optimization Based on Modified SPEA2 Method for Tuning FOPID plus Second-Order Derivative Controller in Hydraulic Turbine Governing System by Tian Tian, Qiang Huang, Jinhua Lv, Mo Zhou, Jian Tang

“…To achieve the Pareto-front, we employ the proposed MSPEA2 method as an optimizer, which is further improved using a Uniform–Cauchy–Gaussian hybrid mutation strategy. We demonstrate its numerical quality and diversity superiority over the conventional method through test function results. …”
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Radial and Sigmoid Basis Function Neural Networks in Wireless Sensor Routing Topology Control in Underground Mine Rescue Operation Based on Particle Swarm Optimization by Mary Opokua Ansong, Hong-Xing Yao, Jun Steed Huang

“…Particle swarm optimisation with adaptive mutation was used to train the neurons. Computer simulation results showed that the neural network learning algorithm minimized the error between the neural network output and the desired output such that final error values were either the same as the error goal or less than the error goal. …”
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STRUCTURAL AND DYNAMIC PROPERTIES OF MUTANTS OF THE SOD1 PROTEIN ASSOCIATED WITH AMYOTROPHIC LATERAL SCLEROSIS by N. A. Alemasov, N. V. Ivanisenko, V. A. Ivanisenko

“…Recently, it has been shown that the survival time of ALS patients with specific mutation in SOD1 gene inversely correlates with thermodynamic stability of the SOD1 mutant protein. …”
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The Role of the Immune System in Huntington’s Disease by Gisa Ellrichmann, Christiane Reick, Carsten Saft, Ralf A. Linker

“…Huntington’s disease (HD) is characterized by a progressive course of disease until death 15–20 years after the first symptoms occur and is caused by a mutation with expanded CAG repeats in the huntingtin (htt) protein. …”
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Sterile osteomyelitis: a cardinal sign of autoinflammation by Tiago Borges, João Santos, Sérgio Silva

“…This review focuses on the occurrence of sterile osteo­myelitis in ABDs and related diseases, notably chronic nonbacterial osteomyelitis (CNO) and its sporadic and monogenic forms, such as deficiency of the interleukin-1 (IL-1) receptor antagonist, Majeed syndrome, CNO related to FBLIM1 mutation, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome). …”
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Evolutionary Pattern of Asian HIV-1 Subtype B from 1990 to 2007: In Silico Analysis Based on Envelop Protein by Sobia Kanwal, Tariq Mahmood

“…Construction of envelop protein phylogeny by using MEGA 5 exhibit the active mutation pattern, increase in potential N-glycosylation sites which were predicted by using online software SignalP-NN. …”
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Giant Pheochromocytoma Diagnosis Confounded by Amphetamine Use by Shreya Amin, Matthew Gilbert, Kaitlyn Barrett

“…Given the high degree of suspicion for PCC, an open laparoscopic adrenalectomy was performed with histology confirming SDHB gene mutation positive giant pheochromocytoma. Discussion. …”
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Acetylation-enhanced Sp1 transcriptional activity suppresses Mlph expression by Chan Song Jo, Hairu Zhao, Jae Sung Hwang

“…Abstract Melanosome transport is regulated by major proteins, including Rab27a, Melanophilin (Mlph), and Myosin Va (Myo-Va), that form a tripartite complex. Mutation of these proteins causes melanosome aggregation around the nucleus. …”
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