Results 71 to 80 of about 851,047 (286)
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, EarlyView.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
A Model for Naturalistic Programming with Implementation
Applied Sciences, 2019 While the use of natural language for software development has been proposed since the 1960s, it was limited by the inherent ambiguity of natural languages, which people resolve using reasoning in a text or conversation.
Oscar Pulido-Prieto +1 more
doaj +1 more source
Enzymatic degradation of biopolymers in amorphous and molten states: mechanisms and applications
FEBS Open Bio, EarlyView.This review explains how polymer morphology and thermal state shape enzymatic degradation pathways, comparing amorphous and molten biopolymer structures. By integrating structure–reactivity principles with insights from thermodynamics and enzyme engineering, it highlights mechanisms that enable efficient polymer breakdown.
Anđela Pustak, Aleksandra Maršavelski
wiley +1 more source
BMC BioinformaticsBackground The Biology System Description Language (BiSDL) is an accessible, easy-to-use computational language for multicellular synthetic biology. It allows synthetic biologists to represent spatiality and multi-level cellular dynamics inherent to ...
Leonardo Giannantoni +3 more
doaj +1 more source
Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control
FEBS Open Bio, EarlyView.Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin +6 more
wiley +1 more source
A compiler architecture for domain-specific type error diagnosis
Open Computer Science, 2019 Domain-specific languages (DSLs) permeate current programming practices. An important kind of DSLs includes those developed and integrated within a host language, which we call embedded or internal DSLs. Unfortunately, embedded DSLs usually fall short on
Serrano Alejandro, Hage Jurriaan
doaj +1 more source
Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih +40 more
wiley +1 more source