Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang +11 more
wiley +1 more source
Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. [PDF]
, 1989 Katriina Aalto‐Setälä +3 more
openalex +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon. [PDF]
, 1988 Liisa Tikka +4 more
openalex +1 more source
Lymphoid and CXCR4 Cell Targeted Lipid Nanoparticles Facilitate HIV‐1 Proviral DNA Excision
Advanced Healthcare Materials, EarlyView.Advancements in ART improve HIV‐1 patient outcomes but are unable to eliminate latent viral DNA. To address this, CXCR4‐targeted lipid nanoparticles (T‐LNPs) for delivering CRISPR‐Cas9 to excise HIV‐1 DNA in infected cells are developed. These T‐LNPs achieve ≈60% HIV‐1 DNA excision efficacy in blood and splenic tissue, demonstrating promise for ...
Sudipta Panja +6 more
wiley +1 more source
Designer Exons Inform a Biophysical Model for Exon Definition
, 2013 Pre-mRNA molecules in humans contain mostly short internal exons flanked by long introns. To explain the removal of such introns, recognition of the exons instead of recognition of the introns has been proposed. This thesis studies this exon definition mechanism using a bottom-up approach.
openaire +3 more sources
Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. [PDF]
, 1989 Tadashi Ariga +5 more
openalex +1 more source
Advanced Healthcare Materials, EarlyView.This study introduces a new lipopolymer nanoparticle (LPNP) system that efficiently delivers siRNA to leukemia cells. The LPNPs silence the leukemia fusion gene KMT2A::AFF1, induce apoptosis, and decrease leukemia burden in mice. These results demonstrate the potential of LPNPs as a targeted siRNA therapy for acute lymphoblastic leukemia.
Mohammad Nasrullah +9 more
wiley +1 more source
The PreA4695precursor protein of Alzheimer's disease A4 amyloid is encoded by 16 exons [PDF]
, 1989 H. G. Lemaire +7 more
openalex +1 more source
Bilirubin Targeting WNK1 to Alleviate NLRP3‐Mediated Neuroinflammation
Advanced Science, EarlyView.At physiological concentrations, bilirubin binds to the kinase domain of WNK1, thereby augmenting its activity and facilitating the phosphorylation of downstream SPAK/OSR1. This phosphorylation inhibits KCC2 activity, leading to elevate intracellular chloride levels in neurons.
Linfei Mao +14 more
wiley +1 more source