Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy
DG Allen, NP Whitehead… - Physiological …, 2016 - journals.physiology.org
Dystrophin is a long rod-shaped protein that connects the subsarcolemmal cytoskeleton to a
complex of proteins in the surface membrane (dystrophin protein complex, DPC), with further …
complex of proteins in the surface membrane (dystrophin protein complex, DPC), with further …
The pathogenesis and therapy of muscular dystrophies
Current molecular genomic approaches to human genetic disorders have led to an
explosion in the identification of the genes and their encoded proteins responsible for these …
explosion in the identification of the genes and their encoded proteins responsible for these …
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
The genomes of various tumour cells contain mutant oncogenes that act dominantly, in that
their effects can be observed when they are introduced into non-malignant cells1–4. There …
their effects can be observed when they are introduced into non-malignant cells1–4. There …
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
M Koenig, EP Hoffman, CJ Bertelson, AP Monaco… - Cell, 1987 - cell.com
The 14 kb human Duchenne muscular dystrophy (DMD) cDNA corresponding to a complete
representation of the fetal skeletal muscle transcript has been cloned. The DMD transcript is …
representation of the fetal skeletal muscle transcript has been cloned. The DMD transcript is …
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
AP Monaco, CJ Bertelson, S Liechti-Gallati, H Moser… - Genomics, 1988 - Elsevier
Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker
muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X …
muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X …
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
D Lakich, HH Kazazian Jr, SE Antonarakis… - Nature genetics, 1993 - nature.com
Mutations in the factor VIII gene have been discovered for barely more than half of the
examined cases of severe haemophilia A. To account for the unidentified mutations, we …
examined cases of severe haemophilia A. To account for the unidentified mutations, we …
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
AP Monaco, RL Neve, C Colletti-Feener, CJ Bertelson… - Nature, 1986 - nature.com
Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy
(BMD) are human X-linked muscle-wasting disorders that have been localized to the band …
(BMD) are human X-linked muscle-wasting disorders that have been localized to the band …
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
SB England, LVB Nicholson, MA Johnson, SM Forrest… - Nature, 1990 - nature.com
DUCHENNE muscular dystrophy (DMD) 1 and Becker muscular dystrophy (BMD), a much
milder form of the disease where the age of onset can sometimes be as late as the third or …
milder form of the disease where the age of onset can sometimes be as late as the third or …
Duchenne muscular dystrophy
EM Yiu, AJ Kornberg - Journal of paediatrics and child health, 2015 - Wiley Online Library
Duchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys
and presents in early childhood with proximal muscle weakness. Untreated boys become …
and presents in early childhood with proximal muscle weakness. Untreated boys become …
The structural and functional diversity of dystrophin
AH Ahn, LM Kunkel - Nature genetics, 1993 - nature.com
Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene.
Expression of this large X-linked gene is under elaborate transcriptional and splicing control …
Expression of this large X-linked gene is under elaborate transcriptional and splicing control …