The nonsense-mediated decay (NMD) pathway is an mRNA surveillance system that
typically degrades transcripts containing premature termination codons (PTCs) in order to …

Abstract Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1, 2) is an autosomal
dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps …

We recently proposed a DNA replication–based mechanism of fork stalling and template
switching (FoSTeS) to explain the complex genomic rearrangements associated with a …

The molecular mechanisms by which different mutations in the same gene can result in
distinct disease phenotypes remain largely unknown. Truncating mutations of SOX10 cause …

Mutations in myelin genes cause inherited peripheral neuropathies that range in severity
from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset Dejerine-Sottas …

Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human
chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie …

Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein
constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot …

Nuclear reactors are in nature nonlinear and their parameters vary with time as a function of
power level, fuel burnup, and control rod worth. Therefore, these characteristics must be …

Insights into the origins of structural variation and the mutational mechanisms underlying
genomic disorders would be greatly improved by a genomewide map of hotspots of …

Angiogenesis plays a key role in the pathology of diseases such as cancer, diabetic
retinopathy, and age-related macular degeneration. Understanding the driving forces of …