Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to
cause the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES). This genetic …

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome
(SIDS) were long considered rare disorders of respiratory control and more recently have …

Rationale: Late-onset central hypoventilation syndrome (LO-CHS) is a rare disorder that
may manifest as early as infancy or as late as during adulthood. The potential overlap of LO …

Polyalanine (polyAla) tract expansions have been associated with an increasing number of
human diseases. Here, we have undertaken a functional study of the effects of polyAla …

Heterozygous polyalanine repeat expansions of PHOX2B have been associated with
Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by …

Expansions of a (GCN) 10/polyalanine tract in the Poly (A) Binding Protein Nuclear 1
(PABPN1) cause autosomal dominant oculopharyngeal muscular dystrophy (OPMD). In …

The transcription factor PHOX2B is essential for the development of the autonomic nervous
system. In humans, polyalanine expansion mutations in PHOX2B cause Congenital Central …

Identifying the major ionotropic neurotransmitter in a respiratory neuron is of critical
importance in determining how the neuron fits into the respiratory system, whether in …

Homozygosity for a dominant allele is relatively rare and preferentially observed in
communities with high inbreeding. According to the definition of true dominance, similar …

The detection of PHOX2B mutations in a small proportion of patients affected with either
familial or sporadic neuroblastoma (NB), has arisen interest on the possible pathogenic role …