SMA is caused by deletion or mutations of the survival motor neuron (SMN1) gene. SMA patients lack a functional SMN1 gene, but they possess an intact SMN2 gene, which though nearly identical to SMN1, is only partially functional (PMID: 17355180). A large majority of SMN2 transcripts lack ...
One of the proposed models to explain the molecular basis of FSHD is that D4Z4 deletion might induce abnormal transcriptional activity in cis and in trans. To get at whether there is abnormal transcriptional activity in FSHD we are using the Gene Exon 1.0 ST Arrays (Affymetrix), which have...
the timing of sample collection (i.e., there potentially being a lag between RNA level correction and the accumulation of dystrophin protein), differences in protein stability when comparing full-length healthy dystrophin with internally-deleted pseudodystrophins restored by exon skipping, or potentially...
Targeted gene knock out using nuclease-assisted vector integration: hemi- and homozygous deletion of JAG1. Methods Mol. Biol. 1772, 233–248 (2018). Article CAS PubMed Google Scholar Kluesner, M. G. et al. EditR: a method to quantify base editing from Sanger sequencing. CRISPR J. 1,...
Duchenne muscular dystrophy (DMD) affecting 1 in 3500–5000 live male newborns is the frequently fatal genetic disease resulted from various mutations in DMD gene encoding dystrophin protein. About 70% of DMD-causing mutations are exon deletion leading t
is not going to know what Exon that falls into or what type of insertion or deletion that is, nor should they. And it is really, really important that the reports at least be clear on the specific type of insertion or deletion that's being seen, what Exon ...
If the joining of the upstream and downstream exons in the processing of a mutated dystrophin pre-mRNA maintains the correct reading frame of the gene, the result is an mRNA coding for a protein with a short internal deletion that retains some activity, resulting in a Becker phenotype. For ...
(Supplementary Data). We therefore proposed that HClust drives the aggregation of nCPEB4. Indeed, we observed that its deletion from nCPEB4Δ4(NTD) (Δ4ΔHC) prevented aggregation (Fig.3h,iand Extended Data Fig.5d). To strengthen this conclusion, we measured the effect of pH on ...
Exon 23 in theCFTRgene is an in-frame exon that encodes important gating regulatory sequences and structural domains from residues 1240 to 1291.21This makes it a suitable target forexon skipping, as deletion of this exon does not disrupt the ORF. Similarly, exon 6 in theHERGis an in-frame...
Conclusion: Our results demonstrate that exon-level array CGH provides a robust option for intragenic copy number analysis and should routinely supplement sequence analysis for Mendelian disorders. Genet Med 2012:14(6):594–603 Key words: array CGH; copy number; deletion; duplication; exon; ...