Validation of the Idylla GeneFusion assay to detect fusions and MET exon-skipping in non-small cell lung cancers. [PDF]
Gilson P+11 more
europepmc +1 more source
The Pathobiology of Cerebrovascular Lesions in CADASIL Small Vessel Disease
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]
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]
Saoudi A+10 more
europepmc +1 more source
Identification and Partial Characterization of a Variant of Human CXCR3 Generated by Posttranscriptional Exon Skipping [PDF]
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]
Rok M+11 more
europepmc +1 more source
Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease Penetrance [PDF]
Emanuele Buratti+3 more
openalex +1 more source
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
Optimization of Exon-Skipping Riboswitches and Their Applications to Control Mammalian Cell Fate. [PDF]
Nomura Y+5 more
europepmc +1 more source