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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New developments in immunotherapy for SCLC by Zhonglin Hao, Tsering Dolkar, Christopher Gates, Reinhold Munker

“…While SCLC rarely harbors actionable mutations, the receptor DLL3 is extensively present in SCLC, making it a potential target for immunotherapy. …”
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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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The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency by Sara Posadas-Cantera, Sara Posadas-Cantera, Noriko Mitsuiki, Florian Emmerich, Virginia Patiño, Hanns-Martin Lorenz, Olaf Neth, Ingunn Dybedal, Kjetil Taskén, Alejandro A. Schäffer, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Laura Gámez-Díaz, Laura Gámez-Díaz

“…IntroductionHuman Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in CTLA4 is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. …”
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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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Evaluation of the resistome and gut microbiome composition of hospitalized patients in a health unit of southern Brazil coming from a high animal husbandry production region by Elisa Pires Coltro, Elisa Pires Coltro, Lucas Cafferati Beltrame, Lucas Cafferati Beltrame, Lucas Cafferati Beltrame, Caroline Ribeiro da Cunha, Caetana Paes Zamparette, Clarissa Feltrin, Vilmar Benetti Filho, Patrícia de Almeida Vanny, Sérgio Beduschi Filho, Taíse Costa Ribeiro Klein, Mara Cristina Scheffer, Jussara Kasuko Palmeiro, Jussara Kasuko Palmeiro, Glauber Wagner, Thaís Cristine Marques Sincero, Thaís Cristine Marques Sincero, Carlos Rodrigo Zárate-Bladés, Carlos Rodrigo Zárate-Bladés

“…Notably, unique resistance genes, including dfrF and mutations in gyrB, were identified at discharge. ARGs were associated with 55 bacterial species, with Lactobacillus fermentum, harboring the ermB gene. …”
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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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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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Identification of determinants that allow maintenance of high-level fluoroquinolone resistance in Acinetobacter baumannii by Efrat Hamami, Wenwen Huo, Juan Hernandez-Bird, Arnold Castaneda, Jinna Bai, Sapna Syal, Juan C. Ortiz-Marquez, Tim van Opijnen, Edward Geisinger, Ralph R. Isberg

“…Clinical isolates largely harbor mutations in the GyrA and TopoIV fluoroquinolone targets, as well as mutations that increase expression of drug resistance-nodulation-division (RND) efflux pumps. …”
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The prognosis and metabolite changes of NSCLC patients receiving first‐line immunotherapy combined chemotherapy in different M1c categories according to 9th edition of TNM classifi... by Liang Zheng, Fang Hu, Wei Nie, Jun Lu, Bo Zhang, Jianlin Xu, Shuyuan Wang, Ying Li, Xiaoxuan Zheng, Wei Zhang, Yinchen Shen, Runbo Zhong, Tianqing Chu, Baohui Han, Hua Zhong, Xueyan Zhang

“…The primary frontline therapy for patients with advanced non‐small cell lung cancer (NSCLC), lacking driver gene mutations, involves the use of immune checkpoint inhibitors (ICIs) combined with chemotherapy. …”
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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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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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Cancer treatment comes to age: from one-size-fits-all to next-generation sequencing (NGS) technologies by Sepideh Parvizpour, Hanieh Beyrampour-Basmenj, Jafar Razmara, Farhad Farhadi, Mohd Shahir Shamsir

“…NGS is expected to lead the transition to precision medicine (PM), where the right therapeutic approach is chosen for each patient based on their characteristics and mutations. Here, we highlight how the NGS technology facilitates cancer treatment. …”
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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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