The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that
mediates the uptake and lysosomal degradation of plasma LDL, thereby providing …

DNA methylation has recently moved to centre stage in the aetiology of human
neurodevelopmental syndromes such as the fragile X, ICF and Rett syndromes. These …

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome
characterized by recurrent hemiplegic episodes and distinct neurological manifestations …

Long transcripts that do not encode protein have only rarely been the subject of
experimental scrutiny. Presumably, this is owing to the current lack of evidence of their …

Infection by bacteria, parasites or viruses and tissue inflammation such as gastritis, hepatitis
and colitis are recognized risk factors for human cancers at various sites. Nitric oxide (NO) …

The crystal structure has been determined at 2.8 A resolution for a chemically-trapped
covalent reaction intermediate between the Hhal DNA cytosine-lmethyltransferase, S …

Mitochondria are controlled by the coordination of two genomes: the mitochondrial and the
nuclear DNA. As such, variations in nuclear gene expression as a consequence of …

Background Familial hypertrophic cardiomyopathy can be caused by mutations in the genes
for β cardiac myosin heavy chain, α-tropomyosin, or cardiac troponin T. It is not known how …

Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death
from cardiac arrhythmias. Prominent features include congenital heart disease, immune …

Alexander disease is a rare disorder of the central nervous system of unknown etiology 1, 2.
Infants with Alexander disease develop a leukoencephalopathy with macrocephaly …