Pathological Significance of Mitochondrial Glycation by Pamela Boon Li Pun, Michael P. Murphy

“…The formation of glycation adducts within cells can have severe functional consequences such as inhibition of protein activity and promotion of DNA mutations. Although several lines of evidence suggest that there are specific mitochondrial targets of glycation, and mitochondrial dysfunction itself has been implicated in disease and ageing, it is unclear if glycation of biomolecules specifically within mitochondria induces dysfunction and contributes to disease pathology. …”
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Cerebellar Development and Plasticity: Perspectives for Motor Coordination Strategies, for Motor Skills, and for Therapy by J. D. Swinny, J. J. L. van der Want, A. Gramsbergen

“…Furthermore, the convenience of a number of naturally occurring mouse mutations has allowed a functional dissection of the various cellular elements that make up the cerebellar circuitry. …”
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A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

“…The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). …”
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(Pro)renin Receptor in Kidney Development and Disease by Renfang Song, Ihor V. Yosypiv

“…All the components of the RAS are expressed in the developing metanephros. Moreover, mutations in the genes encoding components of the RAS in mice or humans are associated with a broad spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). …”
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An elementary approach to modeling drug resistance in cancer by Cristian Tomasetti, Doron Levy

“…In this work we consider the problem ofdrug resistance in cancer, focusing on random genetic point mutations.Most previous works on mathematical models of such drug resistancehave been based on stochastic methods. …”
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RNA Splicing: A New Player in the DNA Damage Response by Silvia C. Lenzken, Alessia Loffreda, Silvia M. L. Barabino

“…The observation that hereditary cancers are often characterized by mutations in DNA repair and checkpoint genes suggests that accumulation of DNA damage is a major contributor to the oncogenic transformation. …”
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Mechanisms underlying CSD initiation implicated by genetic mouse models of migraine by Daniela Pietrobon, K.C. Brennan

“…These models, all generated from families with hereditary migraine, allow the investigation of the functional consequences of disease-causing mutations at the molecular, cellular, synaptic and neural circuit levels. …”
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Advances in Gene Therapy for Neurologic Disorders: An Overview by Pallavi Chand, K. Trideva Sastri, Ashish Singh Chauhan, Souvik Chakraborty, Vikash Jakhmola

“…Neurologic disorders most often occur due to inherent genetic mutations, which lead to numerous types of functional disruptions in nervous system development. …”
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Fever Associated with Gastrointestinal Shigellosis Unmasks Probable Brugada Syndrome by John N. Makaryus, Jennifer Verbsky, Scott Schwarz, David Slotwiner

“…One of the mechanisms behind the disorder involves mutations in specific myocardial sodium channels. Furthermore, these electrocardiographic changes appear to be temperature dependent. …”
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Characterization of Enterobacterales growing on selective CPE screening plates with a focus on non-carbapenemase-producing strains by Reut Efrati Epchtien, Elizabeth Temkin, Mor N. Lurie-Weinberger, Ophir Kastel, Alona Keren-Paz, David Schwartz, Yehuda Carmeli

“…Isolates had multiple beta-lactamases and all had penicillin-binding protein modifications and porin mutations; in meropenem-resistant K. pneumoniae isolates, both Ompk35 and Ompk36 were mutated. …”
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Genetic determinants of silver nanoparticle resistance and the impact of gamma irradiation on nanoparticle stability by Amira M. Mahfouz, Walaa A. Eraqi, Hala Nour El Din El Hifnawi, Alaa El Din Shawky, Reham Samir, Mohamed A. Ramadan

“…Compared to the susceptible isolates, the AgNPs-resistant isolates St.L_R.Ag and KP_R.Ag had unique mutations in specific efflux pump systems, stress response, outer membrane proteins, and permeases. …”
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Brief Report: Clinical Characteristics and Outcomes of Patients With Thoracic SMARCA4-Deficient Undifferentiated Tumors by Alissa J. Cooper, MD, Andrea Arfe, PhD, Biagio Ricciuti, MD, Andréanne Gagné, MD, PhD, Lynette M. Sholl, MD, Alessandro Di Federico, MD, Mark M. Awad, MD, PhD, Mihaela Aldea, MD, PhD, Maria Rosa Ghigna, MD, Miruna Grecea, MD, Phoebe Clark, MS, Jamie E. Chaft, MD, Mark G. Kris, MD, Gregory J. Riely, MD, Charles M. Rudin, MD, PhD, Ibiayi Dagogo-Jack, MD, Mari Mino-Kenudson, MD, Lingzhi Hong, MD, PhD, Neda Kalhor, MD, Natalie Vokes, MD, Anita Bowman, MS, Soo-Ryum Yang, MD, Natasha Rekhtman, MD, PhD, Adam J. Schoenfeld, MD

“…Nine (16%) of 55 tumor samples tested had programmed death-ligand 1 expression more than or equal to 50%, with 24 (44%) negative samples. Tumor mutational burden was available in 48 cases (52%), and median was 10.5 (range: 2–48) mutations per megabase. …”
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Population genetic analysis of clinical Mycobacterium abscessus complex strains in China by Xiangchen Li, Xiangchen Li, Yelei Zhu, Yewei Lu, Kunyang Wu, Yang Che, Xiaomeng Wang, Weixin Wang, Junli Gao, Junshun Gao, Zhengwei Liu, Zhengwei Liu, Zhuxian Zhou

“…Common rrs and rrl gene mutations indicated widespread resistance to aminoglycosides and macrolides, while gyrA mutations suggested emerging fluoroquinolone resistance. …”
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Autophagy in Inflammatory Diseases by Alexander J. S. Choi, Stefan W. Ryter

“…Autophagy provides a functional role in infectious diseases and sepsis by promoting intracellular bacterial clearance. Mutations in autophagy-related genes, leading to loss of autophagic function, have been implicated in the pathogenesis of Crohn's disease. …”
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Advances in personalized gastroenterology and hepatology 2016 by E. Blum Hubert

“…Based on modern molecular, genetic, epigenetic microbiologic and biochemical analyses it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms in the context of genomewide association analyses (GWAS). …”
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Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis by Palaiologos Alexopoulos, Chrysanthos Symeonidis, Tryfon Rotsos

“…AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. …”
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Computed Energetics of Nucleotides in Spatial Ribozyme Structures: An Accurate Identification of Functional Regions from Structure by Ivan Y. Torshin

“…Distinction between the concepts of “relative stability” and “mutational stability” is suggested. As results of prediction for several models of ribozymes appear to be in agreement with the published data on the potential active site regions, the method can potentially be used for prediction of functional nucleotides from nucleic sequence.…”
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Understanding the Pathogenesis of Angelman Syndrome through Animal Models by Nihar Ranjan Jana

“…The disease is primarily caused by deletion or loss-of-function mutations of the maternally inherited UBE3A gene located within chromosome 15q11-q13. …”
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Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review by Anastasios Anyfantakis, Dimitrios Anyfantakis, Irene Vourliotaki

“…Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). …”
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Wallander's Dark Geopolitics by Stougaard-Nielsen Jakob

“…The overarching premise for this article is to explore the extent to which Henning Mankell's crime novels and their adaptations engage the character Wallander's own and “other” worlds with a cosmopolitan perspective, by considering the mutations of Wallander's fictional local world as intricately tied to discursive geopolitical realities of the post–Cold War world. …”
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