..., suggesting previously unknown involvement of Cdc42 in innate immunity. This review aims to update our understanding of how CDC42 mutations are involved in human diseases, with emphasis on early-onset autoinflammation associated with mutations located at the carboxyl-terminus. Further analysis...

...) neurodegeneration neuroprotection sex differences tRNA mutations ACCEPTED MANUSCRIPT 1 REVIEW ARTICLE 2 Emerging roles of transfer RNA fragments in the CNS 3 Katarzyna Winek1 and Hermona Soreq2,3 4 Abstract 5 tRNA-derived small RNAs (tsRNAs), previously considered inactive tRNA degradation products, 6 have now...

...:https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Inherited erythromelalgia, small fiber neuropathy and paroxysmal extreme pain disorder are caused by gain-of-function mutations in the voltage gated sodium channel Nav1.7. How different mutations in the same channel enhancing electrogenesis...

... between mutations of TCRs and antigens, thereby benefiting affinity maturation of engineered TCRs as well as vaccine design. TCRs on clinical trials were innovatively provided. With the significant efforts made towards elucidating the complex interactions between TCRs and antigens, TRAIT is expected...

... University Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Introduction Pseudoachondroplasia is a rare and severe genetic disorder caused by a mutation in the COMP gene, making precise molecular diagnosis crucial...

... mutations and discover novel ones. Parallelization and other heuristics enabled Demixer to process large datasets like CRyPTIC (Comprehensive Resistance Prediction for Tuberculosis: an International Consortium). In both synthetic and experimental benchmark datasets, our proposed method precisely detected...

... associated with inbreeding may purge deleterious mutations. Previous empirical studies of purging in captive breeding programs have focused on phenotypic measurements. We test natural selection's ability to purge deleterious mutations following an extreme population bottleneck by analyzing patterns...

... to the nearest 0.1 mg. Seeds were carefully separated from their capsule, and all seeds from each fruit were weighed. Seeds were then photographed using a Sony Alpha 6000 digital camera and counted using ImageJ software. To determine if somatic mutations can affect fitness in an environment that closely mimics...

... thyroid carcinoma (MTC) is an inherited syndrome accounting for 25% of MTC cases. It is caused by germline RET mutations, which can be inherited or occur de novo. Objective This study aimed to define the prevalence and genetics of de novo MEN2 syndromes, which are not yet fully understood...

... sequences, identifying mutations associated with host adaptation, increased virulence, and antiviral resistance. The tool is available both as a command-line interface and a user-friendly graphical interface, making it accessible to researchers with varying levels of computational expertise. FluMut provides...

... Standards Institute, rezafungin was more active than other echinocandins, but the activity of in-class agents was similar when the US Food and Drug Administration breakpoint was applied. breakpoints Candida glabrata echinocandins FKS mutations rezafungin Melinta Therapeutics 10.13039/100016956...

.... Mutation properties, such as the number of mutations or the number of transitions as opposed to transversions separating amino acid pairs, were also important predictors of substitution rates. The relationship between amino acid substitution rates and differences in their physiochemical properties holds...

... distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/4.0/ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Mutations are the ultimate source of genetic...

...Hiroki Nishiguchi; Teppei Niide; Yoshihiro Toya; Hiroshi Shimizu Correspondence: Hiroshi Shimizu, [email protected] Graphical Abstract Figure. Expression of Phosphoribulokinase with C-terminal loop mutations...

... as the sole carbon source. Because the flux ratio between the IsoCit dehydrogenase (ICDH) and glyoxylate shunt is regulated in a complicated manner at the branch of the IsoCit node, we assumed that some mutations in the ppc-deletion strain activate the glyoxylate shunt activity and recover cell...

... Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Context The association between KCNJ5 somatic mutations and long-term outcomes in patients with operated unilateral primary aldosteronism (uPA) is unclear. Objective To evaluate associations among...

..., Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Background Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of somatic mutations in myeloid and lymphoid malignancy genes in the blood cells of individuals without...

... License ( https://creativecommons.org/licenses/by/4.0/ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background Cancer mutations are often assumed to alter proteins, thus promoting tumorigenesis. However, how...

... mutations (DRMs) and evaluate the frequency and intactness of proviruses harboring DRMs. Results Archived DRMs including G-to-A mutations were found in samples from 3 patients who maintained virologic control. Genomes harboring DRMs were majorly in minority variants (<20%) and were defective in all...

... and Tanghin, 3 localities in Ouagadougou from July to October 2018. The larvae were reared in the laboratory to adults stage and susceptibility profile to pyrethroid, carbamate, and organophosphate insecticides was assessed using WHO tube assays. Mosquito species and mutations linked with insecticide...