Resultado de búsqueda
23 de sept. de 2024 · Mutation data for 392 genes were available in 274 samples, with FGFR3, RB1, and TP53 gene mutations significantly associated with subtype (Figure 4B). Thus, FGFR3 mutations were frequent in UroA (52%) and UroB (27%), while almost absent from UroC (7%) and GU (4%).
25 de sept. de 2024 · Our framework, saturation mutagenesis-reinforced functional assays (SMuRF), offers simple and cost-effective saturation mutagenesis paired with streamlined functional assays to enhance the interpretation of unresolved variants.
24 de sept. de 2024 · Here, we described the impact of two clinically distinct FLNC variants (R1267Q associated with arrhythmogenic cardiomyopathy and V2264M associated with restrictive cardiomyopathy) on calcium homeostasis, electrophysiology, and gene expression profile of iPSC-derived patient-specific cardiomyocytes.
Hace 4 días · There are three major types of mutations: (1) genome mutations, which involve loss or gain of an entire chromosome; (2) chromosomal mutations, which involve alterations in one or more chromosomes that are usually identifiable by karyotyping; and (3) gene mutations, which are partial or complete deletion of the gene or alteration of ...
Hace 4 días · Abstract. Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation. Materials and Methods:
Hace 6 días · In the broadest sense, then, a mutation is a heritable genetic change passed from one cell to another. For that reason, the biochemical correction mechanisms that work in parallel with replication are important for biological continuity.
23 de sept. de 2024 · Notably, two stable mutations, Q48P and I113F, situated in the NSP3 macrodomain (MD), attenuated its mono adenosine diphosphate ribose (MAR) hydrolysis activity and exhibited decreased replication but increased payload expression compared to wild-type saRNA (wt saRNA).
