Results 151 to 160 of about 306,642 (296)

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

open access: yesBrain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper   +17 more
wiley   +1 more source

Second‐generation prokineticin PKR1 receptor agonists: Advancing cardioprotection against chemotherapy‐induced toxicity

open access: yesBritish Journal of Pharmacology, EarlyView.
IS39, a novel non‐peptide PKR1 agonist, confers cardioprotection against doxorubicin‐induced toxicity. IS39 activates PKR1‐mediated pro‐survival signalling in cardiomyocytes, reducing reactive oxygen species (ROS), DNA damage and fibrosis markers. In vivo, IS39 preserves cardiac geometry and function in mice exposed to chronic doxorubicin challenge ...
Anais Audebrand   +8 more
wiley   +1 more source

Delivery of nano‐formulated drugs to solid tumours is selectively increased by co‐application of the vascular disrupting agent CA4P

open access: yesBritish Journal of Pharmacology, EarlyView.
Background and purpose Nano‐formulated chemotherapeutics prolong systemic availability of drugs and can reduce systemic toxicity, but their accumulation in solid tumours is often limited and unpredictable. Broadly applicable strategies to selectively enhance tumour delivery are lacking.
Annabel Kitowski   +13 more
wiley   +1 more source

Identification of the novel c.149-8C>G splicing variant in RHCE*02 that weakens C antigen expression. [PDF]

open access: yesTransfusion
Tournamille C   +6 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Feasibility of <i>TP53</i>-Mutated ctDNA Monitoring in High-Grade Endometrial Cancer Using Routine NGS. [PDF]

open access: yesCancers (Basel)
Marlin R   +11 more
europepmc   +1 more source

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