Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the
autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to …

Amino acid repeats (AARs) are abundant in protein sequences. They have particular roles in
protein function and evolution. Simple repeat patterns generated by DNA slippage tend to …

Abstract Paired Like homeobox 2B (PHOX2B) is a gene crucial for the differentiation of the
neural lineages of the autonomic nervous system (ANS), whose coding mutations cause …

Amino acid tandem repeats are found in a large number of eukaryotic proteins. They are
often encoded by trinucleotide repeats and exhibit high intra-and interspecies size variability …

Congenital central hypoventilation syndrome (CCHS) is a genetic disorder of
neurodevelopment, with an autosomal dominant transmission, caused by heterozygous …

PHOX2B is a transcription factor essential for the development of different classes of
neurons in the central and peripheral nervous system. Heterozygous mutations in the …

The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid
nucleus (RTN) has been extensively studied. These cells are thought to function as central …

Phox2b is a master regulator of visceral reflex circuits. Its role in the control of respiration has
been highlighted by the identification of heterozygous PHOX2B mutations as the cause of …

The PHOX2B transcription factor plays a crucial role in autonomic nervous system
development. In humans, heterozygous mutations of the PHOX2B gene lead to congenital …

HSCR is a congenital disorder of the enteric nervous system, characterized by the absence
of neurons along a variable length of the gut resulting from loss-of-function RET mutations …