Multistrategy Harris Hawks Optimization Algorithm Using Chaotic Method, Cauchy Mutation, and Elite Individual Guidance by Lei Wen, Guopeng Wang, Longwang Yue, Xiaodan Liang, Hanning Chen

“…Second, the cosine function is used to better simulate the characteristics of the periodic change of the energy of the prey in the repeated contests with the group of hawks, to better balance the exploration and exploitation of the algorithm. Third, Cauchy mutation on the optimal individual in the exploration phase is performed, and the characteristics of the Cauchy distribution to enhance the diversity of the population are used, which can effectively prevent the algorithm from falling into the local optimum. …”
Get full text

Isolated renal glucosuria due to SLC5A2 gene mutation: a rare presentation by Priyanka Dua, Ashok Singh, Om P. Mishra

Get full text

Probabilistic genotype-phenotype maps reveal mutational robustness of RNA folding, spin glasses, and quantum circuits by Anna Sappington, Vaibhav Mohanty

“…Recent studies of genotype-phenotype maps have reported universally enhanced phenotypic robustness to genotype mutations, a feature essential to evolution. Virtually all of these studies make a simplifying assumption that each genotype—represented as a sequence—maps deterministically to a single phenotype, such as a discrete structure. …”
Get full text

Synthesis of Thinned Planar Antenna Array Using Multiobjective Normal Mutated Binary Cat Swarm Optimization by Lakshman Pappula, Debalina Ghosh

“…In this paper, a novel multiobjective normal mutated binary cat swarm optimization (MO-NMBCSO) is developed and proposed for the synthesis of thinned planar antenna arrays. …”
Get full text

Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease by Tianle Chen, Yuanjia Wang, Yanyuan Ma, Karen Marder, Douglas R. Langbehn

“…In this work, we use the expectation-maximization (EM) algorithm to handle the missing huntingtin gene information in first-degree family members in COHORT, assuming that a family member has the same CAG length as the proband if the family member carries a huntingtin gene mutation. We perform simulation studies to examine performance of the proposed method and apply the methods to analyze COHORT proband and family combined data. …”
Get full text

A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features by Ugur Musabak, Serdar Ceylaner, Tuba Erdogan, Ebru Sebnem Ayva

“…In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein–Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.…”
Get full text

The Prognostic Implication of the BRAF V600E Mutation in Papillary Thyroid Cancer in a Chinese Population by Ziheng Ye, Xiaotian Xia, Peipei Xu, Wenfei Liu, Shoufei Wang, Youben Fan, Minggao Guo

“…Background. The BRAF V600E mutation is an important genetic event in papillary thyroid cancer (PTC). …”
Get full text

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

“…Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. …”
Get full text

Case report: Gastric langerhans cell histiocytosis with BRAF deletion mutation in a child that was misdiagnosed as lymphoma by Zhi Wan, Zhi Wan, Xue Tang, Xue Tang, Ju Gao, Ju Gao, Jing-jing Sun, Jing-jing Sun

“…The second pathological examination revealed that the tumor cells expressed CD1a, S-100, and Langerin with BRAF (c.1457_1471del) deletion mutations. The patient’s condition rapidly improved after chemotherapy with prednisone and vincristine. …”
Get full text

Dual role of ramR mutation in enhancing immune activation and elevating eravacycline resistance in Klebsiella pneumoniae by Wei Yu, Peiyao Jia, Xiaobing Chu, Shengjie Li, Xinmiao Jia, Ying Zhu, Xiaoyu Liu, Yingchun Xu, Qiwen Yang

“…To determine how specific mutations in ramR influence eravacycline (ERV) resistance and their impact on the immune activation capabilities of K. pneumoniae, thereby highlighting potential targets for therapeutic intervention, we performed genetic sequencing to identify mutations in ramR. …”
Get full text

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation by E. Martínez, R. Moreno, L. López-Mesonero, I. Vidriales, M. Ruiz, A. L. Guerrero, J. J. Tellería

“…Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology. …”
Get full text

Impact of Obesity-Associated SARS-CoV-2 Mutations on COVID-19 Severity and Clinical Outcomes by Ana B. Martínez-Martinez, Alexander Tristancho-Baró, Beatriz Garcia-Rodriguez, Marina Clavel-Millan, Maria Pilar Palacian, Ana Milagro, Antonio Rezusta, Jose M. Arbones-Mainar

Subjects: Get full text

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer by Christian Arstad, Kristin Taskén, Paulo Refinetti, Ulrika Axcrona, Karl-Erik Giercksky, Per Olaf Ekstrøm

“…Thus, mitochondrial DNA mutations may be used as tumor cell markers. By the use of laser capture microdissection coupled with assays for mitochondrial point mutation detection, mtDNA mutations were used to trace mutated cells at a histological level. …”
Get full text

Variable domain mutational analysis to probe the molecular mechanisms of high viscosity of an IgG1 antibody by Jing Dai, Saeed Izadi, Jonathan Zarzar, Patrick Wu, Angela Oh, Paul J. Carter

“…Here, we combined X-ray crystallography with computational modeling to predict regions of an anti-glucagon receptor (GCGR) IgG1 antibody prone to self-interaction. An extensive mutational analysis was undertaken of the complementarity-determining region residues residing in hydrophobic surface patches predicted by spatial aggregation propensity, in conjunction with residue-level solvent accessibility, averaged over conformational ensembles from molecular dynamics simulations. …”
Get full text

A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome by Ying Zhang, Yu Chen, Fa-Ying Liu, Jing-Wen Fu, Xian-Xian Liu, Jun Tan, Ou-Ping Huang, Yang Zou

Subjects: Get full text

Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report by Abdul Muhsen Abdeen MD, Jowan Al-Nusair MD, Malik Samardali MD, Mohamed Alshal MD, Amro Al-Astal MD, Zeid Khitan MD

“…Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene. …”
Get full text

HIV Drug Resistance-Associated Mutations in Antiretroviral Naïve HIV-1-Infected Latin American Children by Luis E. Soto-Ramirez, Roberto Rodriguez-Diaz, D. Robert Harris, Rohan Hazra

“…Reverse transcriptase mutations K70R and K70E were detected in 3 and 2 subjects, respectively; protease mutation I50 V was detected in 1 subject. …”
Get full text

Comment on “Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene” by J. Finsterer, C. A. Scorza, A. C. Fiorini, F. A. Scorza

Get full text

Conformational Dynamics of Mitochondrial Inorganic Pyrophosphatase hPPA2 and Its Changes Caused by Pathogenic Mutations by Ekaterina Bezpalaya, Svetlana Kurilova, Nataliya Vorobyeva, Elena Rodina

“…Based on the comparison of the wild-type and mutant PPases dynamics, we suggest the possible molecular mechanisms of the functional incompetence of hPPA2 caused by mutations. The results of this work allow for deeper insight into the structural basis of PPase function and the possible effects of pathogenic mutations on the protein structure and function.…”
Get full text

Analytic and clinical validity of thyroid nodule mutational profiling using droplet digital polymerase chain reaction by Vincent L. Biron, Ashlee Matkin, Morris Kostiuk, Jordana Williams, David W. Cote, Jeffrey Harris, Hadi Seikaly, Daniel A. O’Connell

“…Abstract Background Recent guidelines for the management of thyroid nodules incorporate mutation testing as an adjunct for surgical decision-making, however current tests are costly with limited accuracy. …”
Get full text