Peutz–Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined
by the development of characteristic polyps throughout the gastrointestinal tract and …

In the last few decades, the importance of selenium in human health has been the subject of
numerous studies. It is believed that the physiological effects of selenium occur mainly …

Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital
myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy …

Focal and segmental glomerulosclerosis 1 (FSGS) is a common, non-specific renal lesion.
Although it is often secondary to other disorders, including HIV infection, obesity, …

Background—The congenital long-QT syndrome (LQTS) is caused by mutations on several
genes, all of which encode cardiac ion channels. The progressive understanding of the …

About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)
is due to deletions of the dystrophin gene. For cases with a deletion mutation, the “…

There is increasing evidence for strong genetic influences on athletic performance and for an
evolutionary "trade-off" between performance traits for speed and endurance activities. We …

We describe oligonucleotide primer sequences that can be used to amplify eight exons plus
the muscle promoter of the dystrophin gene in a single multiplex polymerase chain reaction (…

Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

The mechanisms by which neurotransmitter receptors are immobilized at postsynaptic sites
in neurons are largely unknown. The activity of NMDA (N-methyl-D-aspartate) receptors is …