Germline mutation in serine/threonine kinase 11 (STK11, also called LKB1) results in Peutz–Jeghers
syndrome, characterized by intestinal hamartomas and increased incidence of …

Fragile‐X syndrome is a common form of mental retardation resulting from the inability to
produce the fragile‐X mental retardation protein. Qualitative examination of human brain …

Myelin water imaging (MWI) promises to be invaluable in understanding neurological
diseases like MS. However, a limitation of MWI is signal to noise ratio. Recently, a number of …

Purpose To determine whether the combination of diffusion‐weighted (DW) and dynamic
contrast‐enhanced (DCE) MRI provides higher diagnostic sensitivity for prostate cancer than …

The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate.
The rate-limiting step in this pathway is catalysed by carbamoyl phosphate synthetase (…

Behavioral, electrophysiological, and imaging data reveal impaired visual processing and
altered retinal morphology in Parkinson disease. Are visual changes epiphenomena? We …

The biogenesis of human microRNAs (miRNAs) includes two RNA cleavage steps in which
the activities of the RNases Drosha and Dicer are involved. miRNAs of diverse lengths are …

Copy number variants (CNVs) are genomic rearrangements resulting from gains or losses
of DNA segments. Typically, the term refers to rearrangements of sequences larger than 1 kb. …

Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by mutations in either
of two genes, TSC1 and TSC2. Point mutations and small indels account for most TSC1 and …

This review presents detailed information about the structure of triplet repeat RNA and
addresses the simple sequence repeats of normal and expanded lengths in the context of the …