Pediatric disorders with autonomic dysfunction: what role for PHOX2B? (Q28251570)

Europe PubMed Central

title

Pediatric disorders with autonomic dysfunction: what role for PHOX2B? (English)

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author name string

Claude Gaultier

1

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Ha Trang

2

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Stéphane Dauger

3

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Jorge Gallego

Hirschsprung disease, associated syndromes, and genetics: a review

4

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language of work or name

English

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publication date

July 2005

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published in

Pediatric Research

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volume

58

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issue

1

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page(s)

1-6

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cites work

1 reference

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The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

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Specification of the central noradrenergic phenotype by the homeobox gene Phox2b.

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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

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PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

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Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

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Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

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PMX2B, a new candidate gene for Hirschsprung's disease.

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Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways.

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Specification of catecholaminergic and serotonergic neurons.

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Interaction of Mash1 and Phox2b in sympathetic neuron development

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Specification of neurotransmitter identity by Phox2 proteins in neural crest stem cells

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Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons

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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

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Hypoxia reveals posterior thalamic, cerebellar, midbrain, and limbic deficits in congenital central hypoventilation syndrome

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Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

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Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome

21 January 2018

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10.1203/01.PDR.0000166755.29277.C4

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

1011429258

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Fatcat ID

release_3tirdha52jhodikfgkrpirp7ry

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Fatcat

https://api.fatcat.wiki/v0/release/3tirdha52jhodikfgkrpirp7ry