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Article

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.

Biochimica et biophysica acta. Molecular basis of disease - 1 Jul 2017

Di Zanni Eleonora, Adamo Annalisa, Belligni Elga, Lerone Margherita, Martucciello Giuseppe, Mattioli Girolamo, Pini Prato Alessio, Ravazzolo Roberto, Silengo Margherita, Bachetti Tiziana, Ceccherini Isabella

Abstract excerpt

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. 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...

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Identifiers

PMID: 28433712
DOI: 10.1016/j.bbadis.2017.04.017

Genes

RET

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Click a neighbor to travelStep 1 · 12 closest

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.PMID 28433712Read ↗

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.Semantic proximity Read ↗

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.Semantic proximity Read ↗

Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.Semantic proximity Read ↗

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.Semantic proximity Read ↗

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.Semantic proximity Read ↗

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.Semantic proximity Read ↗

Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear ImportSemantic proximity Read ↗

Molecular insights into the role of the polyalanine region in mediating PHOX 2B aggregationSemantic proximity Read ↗

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene.Semantic proximity Read ↗

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.Semantic proximity Read ↗

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