Results 81 to 90 of about 188,397 (314)
Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations
FEBS Letters, EarlyView.The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas +6 more
wiley +1 more source
Diffuse midline glioma with co⁃occurrence of H3 K27M and BRAF V600E mutations
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 Objective To explore the clinicopathological features, immunophenotype, molecular genetics, differential diagnosis and prognosis of diffuse midline glioma, H3 K27M mutant.
Nan WU +6 more
doaj
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
Nucleic Acids Research, 1989 We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis. The system is simple, reliable and non-isotopic.
C R, Newton +7 more
openaire +3 more sources
A data-driven approach for constructing mutation categories for mutational signature analysis.
PLoS Computational Biology, 2021 Mutational processes shape the genomes of cancer patients and their understanding has important applications in diagnosis and treatment. Current modeling of mutational processes by identifying their characteristic signatures views each base substitution ...
Gal Gilad +2 more
doaj +1 more source
FEBS Letters, EarlyView.An unexpected alternative interaction site for ethyl viologen was identified in formate dehydrogenase 1 from Methylorubrum extorquens. Combined mutagenesis, kinetic analysis, and docking revealed that aromatic residues near an iron–sulfur cluster enable flavin mononucleotide‐independent electron transfer, offering a framework for engineering improved ...
Eleni G. Poloniataki, Yong Hwan Kim
wiley +1 more source
, 2009 The analysis of targeted genetic loci from ancient, forensic and clinical samples is usually built upon polymerase chain reaction (PCR)-generated sequence data.
Endicott, Phillip +8 more
core +1 more source
, 2021 Data generated for the manuscript "Protein structural consequences of DNA mutational signatures: A meta-analysis of somatic variants and deep mutational scanning data". Please consult the README file for detailed description of data files included in
Ng, Joseph, Fraternali, Franca
core +1 more source
Journal of Translational Medicine, 2022 Background Revealing the impacts of endogenous and exogenous mutagenesis processes is essential for understanding the etiology of somatic genomic alterations and designing precise prognostication and treatment strategies for cancer. DNA repair deficiency
Amir Farmanbar +3 more
doaj +1 more source
RADIA: RNA and DNA Integrated Analysis for Somatic Mutation Detection
PLoS ONE, 2014 25 pages, 3 figures, 4 tables, 8 supplementary figures, submitted to ...
Radenbaugh, Amie J. +6 more
openaire +8 more sources
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source