Results 71 to 80 of about 182,601 (264)
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
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
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
Phosphoinositides and inositol phosphates as molecular glues
FEBS Letters, EarlyView.Inositol phosphates (IPs) and phosphoinositides (PIPs) regulate diverse eukaryotic processes. Beyond recruiting signaling proteins or acting as structural cofactors, recent studies suggest they mediate protein–protein interactions as natural molecular glues.
Aleshia Seaton‐Terry +9 more
wiley +1 more source
Analysis of mutations of NF1 gene in three patients with neurofibromatosis type I
Pifu-xingbing zhenliaoxue zazhi[Objective] To detect the gene mutations in three children with neurofibromatosis type1 (NF1), and explore the new pathogenic mutations and phenotypes of NF1. [Methods] Exome sequencing and targeted gene panels were performed in the probands to determine
LIN Yanyan +4 more
doaj +1 more source
Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis
FEBS Letters, EarlyView.Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee +7 more
wiley +1 more source
Journal of the Formosan Medical Association, 2008 Background/Purpose: Desmosome gene mutations have been reported in patients with arrhythmogenic right ventricular dysplasia (ARVD). However, there are hardly any genetic studies in Asians.
Chih-Chieh Yu +7 more
doaj +1 more source
FEBS Letters, EarlyView.Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley +1 more source
Tandem repeat DNA: applications in mutation analysis
Environmental Mutagen Research, 2005 Non-coding tandem repeat DNA sequences have high rates of mutation that facilitate the measurement of induced mutation in small sample sizes. It has been suggested that these loci may be useful biomarkers for heritable genetic mutation induced by exposure to genotoxic agents.
Yauk, Carole, Polyzos, Aris
openaire +2 more sources
FEBS Letters, EarlyView.CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens +8 more
wiley +1 more source