Results 131 to 140 of about 419,485 (330)
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
Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction
Molecular MedicineBackground Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder.
Igor Bychkov +2 more
doaj +1 more source
EXON RESINS: each one engineered for Specific Problems and Specific Uses [PDF]
, 1955 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
Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon
PLoS Biology, 2007 Several strategies have been pursued to increase the extent of exon 7 inclusion during splicing of SMN2 (survival of motor neuron 2) transcripts, for eventual therapeutic use in spinal muscular atrophy (SMA), a genetic neuromuscular disease. Antisense oligonucleotides (ASOs) that target an exon or its flanking splice sites usually promote exon skipping.
Adrian R. Krainer +4 more
openaire +5 more sources
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
Advanced Science, EarlyView.Glucose deprivation or GLUT1 inhibition induces disulfidptosis in SLC7A11high ovarian cancer cells by promoting cystine accumulation, NADPH/ATP depletion, and F‐actin disulfide formation. SLC7A11 interacts with INF2 to further increase H₂O₂ levels and impair mitochondrial fission, suppressing cell migration. Targeting the SLC7A11–INF2 axis represents a
Zhenyu Song +9 more
wiley +1 more source
Evolutionarily Developed Alternatively Spliced Exons Containing Translation Initiation Sites
CellsAlternative splicing is essential for the generation of various protein isoforms that are involved in cell differentiation and tissue development. In addition to internal coding exons, alternative splicing affects the exons with translation initiation ...
Jun-ichi Takeda +2 more
doaj +1 more source
Identification of a Carcinoembryonic Antigen Gene Family in the Rat [PDF]
, 1989 The existence of a carcinoembryonic antigen (CEA)-like gene family in rat has been demonstrated through isolation and sequencing of the N- terminal domain exons of presumably five discrete genes (rnCGM1-5).
Barnert, Sabine +5 more
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