Pub. Date : 2017 Jul
PMID : 28433712
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 2 | Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 3 | Following the observation of HSCR patients carrying in frame trinucleotide deletions within the polyalanine stretch in exon 3 (polyA contractions), we have verified the hypothesis that these PHOX2B variants do reduce its transcriptional activity, likely resulting in a down-regulation of RET expression and, consequently, favouring the development of the HSCR phenotype. | polyalanine | paired like homeobox 2B | Homo sapiens |