Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
about
Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trendPHOX2B regulates its own expression by a transcriptional auto-regulatory mechanismThe TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cellsAn ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertensionIdentification of ALK as a major familial neuroblastoma predisposition geneChronic hypoventilation syndromes and sleep-related hypoventilationChemoreception and asphyxia-induced arousal.Pontine mechanisms of respiratory controlA single gene target of an ETS-family transcription factor determines neuronal CO2-chemosensitivityDistinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish modelsImpaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndromePediatric disorders with autonomic dysfunction: what role for PHOX2B?Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansionPHOX2B immunolocalization of the candidate human retrotrapezoid nucleusMolecular pathogenesis of peripheral neuroblastic tumorsMafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birthNalcn Is a "Leak" Sodium Channel That Regulates Excitability of Brainstem Chemosensory Neurons and Breathing.Proton detection and breathing regulation by the retrotrapezoid nucleus.Neural Control of Breathing and CO2 Homeostasis.State-dependent control of breathing by the retrotrapezoid nucleus.Hypoxia silences retrotrapezoid nucleus respiratory chemoreceptors via alkalosis.Regulation of breathing and autonomic outflows by chemoreceptors.The respiratory chemoreception conundrum: light at the end of the tunnel?Retrotrapezoid nucleus and parafacial respiratory group.Central respiratory chemoreception.Retrotrapezoid nucleus, respiratory chemosensitivity and breathing automaticity.Galanin is a selective marker of the retrotrapezoid nucleus in rats.Identification of neurotransmitters and co-localization of transmitters in brainstem respiratory neurons.The 2008 Carl Ludwig Lecture: retrotrapezoid nucleus, CO2 homeostasis, and breathing automaticityA human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.Retrotrapezoid nucleus and central chemoreception.Selective lesion of retrotrapezoid Phox2b-expressing neurons raises the apnoeic threshold in rats.Central Alveolar Hypoventilation Syndromes.Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expressionThe respiratory control mechanisms in the brainstem and spinal cord: integrative views of the neuroanatomy and neurophysiology.Central autonomic regulation in congenital central hypoventilation syndromeDiffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome.Hippocampal volume reduction in congenital central hypoventilation syndrome.Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environmentRodent models of sleep apnea.
P2860
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P2860
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@ast
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@en
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@en-gb
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@nl
type
label
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@ast
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@en
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@en-gb
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@nl
prefLabel
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@ast
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@en
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@en-gb
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@nl
P2093
P50
P921
P3181
P356
P1433
P1476
Polyalanine expansion and fram ...... ntral hypoventilation syndrome
@en
P2093
Blanca Gener
Béatrice Laudier
Claude Gaultier
Loïc de Pontual
Michel Simonneau
P2888
P304
P3181
P356
10.1038/NG1130
P407
P50
P577
2003-04-01T00:00:00Z
P5875
P6179
1005629689