Results 151 to 160 of about 355,047 (195)

An Enzymatic Platform for Late‐Stage (Radio)isotope Labelling of Oligonucleotides With Methyltransferases

open access: yesAngewandte Chemie, EarlyView.
State‐of‐the‐art synthesis of radiolabelled oligonucleotides involves multi‐step synthesis with high costs, extended timelines and significant radioactive waste generation. Herein, a dual‐methyltransferase platform enables late‐stage, site‐specific labelling, overcoming these limitations through reduced costs, faster turnaround and minimal radioactive ...
Christopher R. B. Swanson   +3 more
wiley   +2 more sources

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda   +5 more
wiley   +1 more source

Chemoenzymatic Radiosynthesis of a Gluconate Transporter‐Targeted In Vivo Bacterial Sensor From Clinical [18F]FDG

open access: yesAngewandte Chemie, EarlyView.
An efficient radiosynthesis of fluorine‐18 labeled gluconic acid ([18F]FGA) was developed using two readily available materials, 2‐deoxy‐2‐[18F]fluoro‐D‐glucose ([18F]FDG) and glucose oxidase. [18F]FGA is highly specific for bacterial gluconate metabolism mediated by gluconate permease (GntP) and gluconate kinase (GntK), with rapid clearance, low off ...
Sang Hee Lee   +7 more
wiley   +2 more sources

SnRNA‐seq reveals cellular heterogeneity and proliferation mechanisms in limb venous malformations

open access: yesAnimal Models and Experimental Medicine, EarlyView.
To dissect the cellular heterogeneity and invasive mechanisms of limb venous malformations (VMs), this study first obtained tissue samples from four patients with VMs and four normal controls (NC). Single‐nucleus suspension was prepared, followed by transcriptome library construction and sequencing. After pretreatment, quality control, standardization,
Junjie Lin   +13 more
wiley   +1 more source

The inheritance of light. [PDF]

open access: yesPalliat Support Care
Rajendran T.
europepmc   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton   +4 more
wiley   +1 more source

Evolutionary Computation:an Overview

open access: yesTongxin xuebao, 1997
He Zhenya Wei Chengjian (Department of Radio Engineering   +2 more
doaj   +2 more sources

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