Results 51 to 60 of about 28,635 (297)
Interpreting the effects of DNA polymerase variants at the structural level
Molecular Oncology, EarlyView.Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2017 Wiskott-Aldrich syndrome (WAS) is a life-threatening immunodeficiency caused by mutations within the WAS gene. Viral gene therapy to restore WAS protein (WASp) expression in hematopoietic cells of patients with WAS has the potential to improve outcomes ...
Swati Singh +11 more
doaj +1 more source
FEBS Open Bio, EarlyView.Despite frogs avoiding low temperatures, examination of four salamander species revealed that none avoided cold and all possessed cold tolerance. Functional analysis of TRPM8, a cold sensor, showed that all salamander TRPM8s had lost their cold sensitivity.
Tadahiro Sawao +3 more
wiley +1 more source
Genome-wide transposon mutagenesis of paramyxoviruses reveals constraints on genomic plasticity.
PLoS Pathogens, 2020 The antigenic and genomic stability of paramyxoviruses remains a mystery. Here, we evaluate the genetic plasticity of Sendai virus (SeV) and mumps virus (MuV), sialic acid-using paramyxoviruses that infect mammals from two Paramyxoviridae subfamilies ...
Satoshi Ikegame +8 more
doaj +1 more source
YIPFα1A expression is regulated by multilayered molecular mechanisms
FEBS Open Bio, EarlyView.YIPFα1A, a five‐pass Golgi protein, is regulated at multiple layers. (1) Rare‐codon enrichment drives translation‐coupled mRNA decay. (2) A proximal 3′‐UTR element stabilizes mRNA. (3) A distal 3′‐UTR element included by alternate poly(A) site usage represses translation, which can be overridden by the proximal 3′‐UTR element.
Tokio Takaji +2 more
wiley +1 more source
Random Insertional Mutagenesis of a Serotype 2 Dengue Virus Clone
Bio-Protocol, 2018 Protein tagging is a powerful method of investigating protein function. However, modifying positive-strand RNA virus proteins in the context of viral infection can be particularly difficult as their compact genomes and multifunctional proteins mean even ...
Jeffrey Perry, Andrew Tai
doaj +1 more source
Microbiology Spectrum, 2023 Transmission of the deadly malaria parasite Plasmodium falciparum from humans to mosquitoes is achieved by specialized intraerythrocytic sexual forms called gametocytes.
Jyotsna Chawla +13 more
doaj +1 more source
Germline transgenesis and insertional mutagenesis in the ascidian Ciona intestinalis
, 2007 Stable transgenesis is a splendid technique that is applicable to the creation of useful marker lines, enhancer/gene traps and insertional mutagenesis.
SASAKURA Yasunori, Yasunori Sasakura
core +1 more source
Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs
FEBS Open Bio, EarlyView.Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner +7 more
wiley +1 more source
Hepatology, EarlyView., 2022 Abstract Background and Aims Intrahepatic cholangiocarcinoma (ICC) is a deadly but poorly understood disease, and its treatment options are very limited. The aim of this study was to identify the molecular drivers of ICC and search for therapeutic targets.
Yuto Shiode +16 more
wiley +1 more source