Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing

Zhang, Xinxin; Chen, Xiangliang; Chen, Jie; Ma, Yuanchun; Huang, Shaoping; Cai, Mengru; Wang, Lei; Yi, Long

doi:10.1038/s10038-022-01035-y

Search citation statements

Order By: Relevance

Paper Sections

Select...

Academic Journal Of Pediatrics and Neonatology1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2022

2024

Publication Types

Select...

Article4

Relationship

Self Cite0

Independent4

Authors

Journals

Cited by 4 publications

(1 citation statement)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, genetic testing of DMD identifies a certain number of variants of uncertain clinical significance (VUS). Recently, as first systematic characterization of DMD splicing variants, computational tools to prioritize VUS and a cell-based minigene assay to confirm aberrant splicing were developed, whereby rare and hitherto undetermined variants in exon and intron 10 of the DMD gene were evaluated [9].…”

Section: Academic Journal Of Pediatrics and Neonatologymentioning

confidence: 99%

Update for Duchenne Muscular Dystrophy - Hope for Causal Treatment of a Disorder Presenting in Early Childhood?

Walter

2022

AJPN

View full text Add to dashboard Cite

Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disease that affects 1 in 3,600 to 6,000 males. DMD is not curable until today. In this mini-review, myoblast transplantation and stem cell therapy, read-through therapy, antisense oligonucleotide-mediated therapy, vector-mediated gene therapy, and CRISPR/Cas9-mediated gene editing are shortly addressed, approaches which alone or combined have the potential for causal treatment of DMD.

show abstract

Section: Academic Journal Of Pediatrics and Neonatologymentioning

confidence: 99%