Cargando…
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
BACKGROUND: In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected i...
Autores principales: | Neri, Marcella, Valli, Emanuele, Alfano, Giovanna, Bovolenta, Matteo, Spitali, Pietro, Rapezzi, Claudio, Muntoni, Francesco, Banfi, Sandro, Perini, Giovanni, Gualandi, Francesca, Ferlini, Alessandra |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331845/ https://www.ncbi.nlm.nih.gov/pubmed/22455600 http://dx.doi.org/10.1186/1471-2350-13-20 |
Ejemplares similares
-
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms
por: Bovolenta, Matteo, et al.
Publicado: (2012) -
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
por: Bovolenta, Matteo, et al.
Publicado: (2008) -
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
por: Ferlini, Alessandra, et al.
Publicado: (2010) -
Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein
por: Li, Dunhui, et al.
Publicado: (2020) -
Multiomic characterization of disease progression in mice lacking dystrophin
por: Signorelli, Mirko, et al.
Publicado: (2023)