Sentence examples for alternative splicing defect from inspiring English sources

The alternative splicing defect in HDAC1-depleted cells could be rescued by the expression of the wildtype HDAC1 protein, but not by a catalytically inactive variant, suggesting a specific requirement for HDAC1-associated deacetylase activity for the regulation of alternative splicing.

We used assays for both of these transcripts as a read-out of the effect of drug treatment to determine whether chromomycin A3 and Ro 31-8220 reverse DM-associated alternative splicing defects.

The simplest possibility is that one or more specific alternatively spliced products are important for dendrite development and that defects in alternative splicing reveal defects in dendrite morphology (Olesnicky et al. 2014).

134, 135 Interestingly, breast cancer-specific alternative splicing is not restricted to splicing defects resulting in loss of protein functions, and may also include modifications that generate proteins with new functions.

In the case of highly structured r CGG exp residing in a 5′ UTR, we have shown that small molecule modalities may be better as they do not inhibit translation of the downstream ORF while also improving alternative pre-mRNA splicing defects.

In any case, defects in alternative splicing have been related to several genetic diseases including muscular dystrophy, Alzheimer's disease and cancer from almost every origin.

Defects in alternative splicing are linked to various diseases including spinal muscular atrophy, neurofibromatosis type 1, cystic fibrosis, breast cancer, and ovarian cancer [ 12, 13].

Changes in the alternative splicing of SR genes and the phenotypic defects in the mutant were rescued by SR45 cDNA, further confirming that the observed defects in the mutant are due to the lack of SR45.

While Mbnl1; Mbnl2 homozygous double KOs (DKOs) were embryonic lethal, Mbnl1−/−; Mbnl2+/− mice survived until adulthood but developed skeletal and cardiac muscle defects, as well as alternative splicing changes, characteristic of DM.

Muscle defects are likely caused by alternative splicing alterations in muscle transcripts of which two have been recently described in muscleblind mutants [27], [28].

Defects in splicing machinery may cause alternative splicing and further whole gene expression changes of neural development and adhesion genes, resulting in the protein level changes observed in our previous study.