Results 91 to 100 of about 127,159 (238)
, 2004 Classic cystic fibrosis (CF) is caused by two loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, whereas patients with nonclassic CF have at least one copy of a mutant gene that retains partial function of ...
Schaller, André +4 more
core +1 more source
Annals of the Child Neurology Society, EarlyView.ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam +8 more
wiley +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
Deleterious c-Cbl Exon Skipping Contributes to Human Glioma
Neoplasia: An International Journal for Oncology Research, 2015 c-Cbl, a RING-type ubiquitin E3 ligase, downregulates various receptor tyrosine kinases (e.g., epidermal growth factor receptor (EGFR)), leading to inhibition of cell proliferation.
Min Woo Seong +10 more
doaj +1 more source
, 2018 Figure S1. PTC mutation in exon 51 of DMD gene induces exon skipping. Figure S2. PTC mutation in exon 2 of LMNA gene induces exon skipping. Figure S3. PTC mutation in exon 12 of ANO5 gene induces exon skipping. Figure S4.
Yuning Song (1383429) +7 more
core +1 more source
Developmental Dynamics, EarlyView.Abstract Background The promoters and enhancers of heat shock genes, such as the 1.5‐kb promoter of the zebrafish hsp70l gene, are valuable tools for temporal activation of transgenes. It has been widely purported that heat shock treatments result in ubiquitous expression of hsp70l‐driven transgenes.
Jong‐Su Park, Xiangyun Wei
wiley +1 more source
Multiple exon skipping strategies to by-pass dystrophin mutations. [PDF]
, 2012 Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy.
Adkin, C.F. +13 more
core +3 more sources
CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion
Genome Biology, 2017 CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-
Haiwei Mou +16 more
doaj +1 more source
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]
, 2016 With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M +8 more
core
ViM treatment results in exon skipping and subsequent dystrophin restoration.
, 2018 A) Nested PCR revealing exon skipping upon local 51ViM or 53ViM treatment in right and left gastrocnemius and triceps muscle (respectively GR, GL and TR, TL) of two del52hDMD/mdx#35 mice.
Margriet Hulsker (184344) +11 more
core +1 more source