The Aristaless‐related homeobox gene (ARX) is one of the most frequently mutated genes
in a spectrum of X‐chromosome phenotypes with intellectual disability (ID) as their cardinal …

Trinucleotide expansions cause disease by both protein-and RNA-mediated mechanisms.
Unexpectedly, we discovered that CAG expansion constructs express homopolymeric …

Genetic investigations of X-linked mental retardation have demonstrated the implication of
ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal …

Infantile spasms syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms,
persistent seizures, mental retardation, and in some cases, autism. One of its monogenic …

Five species of parasite cause malaria in humans with the most severe disease caused by
Plasmodium falciparum. Many of the proteins encoded in the P. falciparum genome are …

ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the
development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations …

X-linked Infantile Spasms Syndrome (ISSX) is a catastrophic epilepsy of early childhood with
intractable seizures, intellectual disability, and poor prognosis. A spectrum of mutations in …

Background Aristaless-related homeobox (ARX) is a paired-like homeodomain transcription
factor that functions primarily as a transcriptional repressor and has been implicated in …

Polyglutamine (polyGln) expansions in nine human proteins result in neurological diseases
and induce the proteins' tendency to form β-rich amyloid fibrils and intracellular deposits …

Familial cases of congenital hypothyroidism from thyroid dysgenesis (TD)(OMIM 218700)
occur with a frequency 15-fold higher than by chance, FOXE1 is one of the candidate genes …