Results 241 to 250 of about 49,915 (319)

Validation of the Idylla GeneFusion assay to detect fusions and MET exon-skipping in non-small cell lung cancers. [PDF]

open access: yesSci Rep, 2023
Gilson P   +11 more
europepmc   +1 more source

The Pathobiology of Cerebrovascular Lesions in CADASIL Small Vessel Disease

open access: yesBasic &Clinical Pharmacology &Toxicology, Volume 136, Issue 5, May 2025.
ABSTRACT Cerebral small vessel disease (cSVD) is a significant global health issue, accounting for approximately 25% of ischemic strokes and 20% of all dementia cases. CADASIL, the most common monogenic form of cSVD, is caused by stereotyped mutations in the NOTCH3 receptor that alter the number of cysteine residues in its extracellular domain ...
Anne Joutel
wiley   +1 more source

Case Report: a novel variant in <i>WT1</i> leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping. [PDF]

open access: yesFront Nephrol
Marquez J   +6 more
europepmc   +1 more source

Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models. [PDF]

open access: yesCells, 2023
Saoudi A   +10 more
europepmc   +1 more source

Identification and Partial Characterization of a Variant of Human CXCR3 Generated by Posttranscriptional Exon Skipping [PDF]

open access: bronze, 2004
Jan E. Ehlert   +4 more
openalex   +1 more source

Prevention of early-onset cardiomyopathy in Dmd exon 52-54 deletion mice by CRISPR-Cas9-mediated exon skipping. [PDF]

open access: yesMol Ther Methods Clin Dev, 2023
Rok M   +11 more
europepmc   +1 more source

Profiling of RBM20‐Regulated CaMKIIδ Splice Variants Across the Heart, Skeletal Muscle, and Olfactory Bulbs

open access: yesGenes to Cells, Volume 30, Issue 3, May 2025.
This study performed long‐read amplicon sequencing of the murine Camk2d splice variants in the heart, skeletal muscle, and olfactory bulbs from the wild‐type and three mutant strains. The tissue‐specific repertoire of CaMKIIδ splice variants and their aberrant expression in disease model animals will help in understanding their roles in physiological ...
Yui Maeda   +2 more
wiley   +1 more source

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