Results 171 to 180 of about 80,402 (303)

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

open access: yesAustralasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong   +4 more
wiley   +1 more source

PTC readthrough [PDF]

open access: yesScience-Business eXchange, 2013
openaire   +1 more source

Three years of ocular proton therapy in the Netherlands, clinical results

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose Uveal melanoma (UM) is a rare cancer with rising number of diagnosis (143 diagnoses in 1990 to 226 in 2023) in the Netherlands. Most patients are treated locally with Ruthenium‐106 brachytherapy (±102/year). Patients were referred for proton therapy (PT) to Switzerland in the past, but PT is available in the Netherlands from January ...
C. Rasch   +14 more
wiley   +1 more source

Patient‐derived surgical samples reveal the cellular and molecular signatures of glioblastoma infiltration in distinct radiological zones

open access: yesBrain Pathology, EarlyView.
Integrated histological and transcriptional profiling of the glioblastoma periphery reveals clinically relevant tumor infiltration beyond MRI‐defined boundaries. MRI‐guided biopsies from contrast‐enhancing (CE), non‐contrast‐enhancing (nCE), edema (E), and radiologically normal (N) regions demonstrate that nCE areas frequently retain neoplastic and ...
Olaya de Dios   +18 more
wiley   +1 more source

Potentiation effects of the positive allosteric modulator PTC‐174 on NMDA receptors in neonatal male rat substantia nigra dopaminergic neurons

open access: yesBritish Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Positive allosteric modulators bind to secondary binding sites on the receptor and alter receptor conformation and activation, changing agonist potency and efficacy. PTC‐174 is a novel NMDA receptor positive allosteric modulator that particularly enhances activity of receptors containing GluN2C or GluN2D subunits.
Bangyuan Liu, Alasdair J. Gibb
wiley   +1 more source

Genotype‐Informed Whole‐Animal Kinome Screening Reveals Shared Kinase Vulnerabilities Across Driver Contexts in PDAC

open access: yesCancer Science, EarlyView.
Overview of experimental workflow and key findings. Clinically prevalent 2‐hit and 3‐hit PDAC genotypes were first modeled in Drosophila to enable kinome‐wide genetic screening. Candidate therapeutic targets were prioritized using human tumor expression data and pathway enrichment analyses.
Han Hai   +10 more
wiley   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

open access: yesClinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob   +15 more
wiley   +1 more source

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