Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …

Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal
and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix …

Osteosarcoma (OS) is a rare, metastatic, human adolescent cancer that also occurs in pet
dogs. To define the genomic underpinnings of canine OS, we performed multi-platform …

In addition to muscle disease, defects in processing and assembly of the dystrophin–
glycoprotein complex (DGC) are associated with a spectrum of brain abnormalities ranging …

Many common human mesenchymal tumors, including gastrointestinal stromal tumor (GIST),
rhabdomyosarcoma (RMS) and leiomyosarcoma (LMS), feature myogenic differentiation …

Duchenne muscular dystrophy is a highly progressive muscle wasting disorder due to
primary abnormalities in one of the largest genes in the human genome, the DMD gene …

Approximately 11% of monogenic diseases involve nonsense mutations that are caused by
premature termination codons. These codons can in principle be read-through via the site …

Purpose: Sclerosing epithelioid fibrosarcoma (SEF) is a highly aggressive soft tissue
sarcoma closely related to low-grade fibromyxoid sarcoma (LGFMS). Some tumors display …

Duchenne muscular dystrophy (DMD) is marked by pathogenic variants in the DMD gene,
leading to reduced or absent dystrophin translation, muscle fiber destruction, loss of …

Myoclonus‐dystonia is a clinical syndrome characterized by a typical childhood onset of
myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric …