Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome
10.1016/j.omtn.2024.102319 · 2024
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
10.1038/ng1130 · 2003
Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions
10.1038/s41467-024-46236-5 · 2024
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
10.1093/hmg/ddi188 · 2005
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome
10.1164/rccm.200602-266cr · 2006
What is the role of Stathmin-2 in axonal biology and degeneration?
10.1212/wnl.0000000000012419 · 2021
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries
10.1038/ng.3921 · 2017
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells
10.1042/bj20051386 · 2006
Etonogestrel administration reduces the expression of PHOX2B and its target genes in the solitary tract nucleus
10.3390/ijms23094816 · 2022
PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism
10.1074/jbc.m508368200 · 2005
ToppGene suite for gene list enrichment analysis and candidate gene prioritization
10.1093/nar/gkp427 · 2009
Inhalational Anesthetics induce neuronal protein aggregation and affect ER trafficking
10.1038/s41598-018-23335-0 · 2018
Ongoing roles of Phox2 homeodomain transcription factors during neuronal differentiation
10.1242/dev.056747 · 2010
Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways
10.1242/dev.00866 · 2003
Alanine expansions associated with congenital central hypoventilation syndrome impair PHOX2B homeodomain-mediated dimerization and nuclear import
10.1074/jbc.m115.679027 · 2016
PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line
10.1016/j.yexcr.2016.02.014 · 2016
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease
10.1016/j.bbadis.2017.04.017 · 2017
STAR: ultrafast universal RNA-seq aligner
10.1093/bioinformatics/bts635 · 2013
A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons
10.1073/pnas.0709115105 · 2008
Transcription factors Phox2a/2b upregulate expression of noradrenergic and dopaminergic phenotypes in aged rat brains
10.1007/s12640-020-00250-9 · 2020
Primary alveolar hypoventilation (Ondine’s curse syndrome) in an infant without external arcuate nucleus. Case report
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Chemosensitive Phox2b-expressing neurons are crucial for hypercapnic ventilatory response in the nucleus tractus solitarius
10.1113/jp274437 · 2017
Activation of Phox2b-expressing neurons in the nucleus tractus Solitarii drives breathing in mice
10.1523/jneurosci.2048-18.2018 · 2019
Wnt signaling regulates neural plate patterning in distinct temporal phases with dynamic transcriptional outputs
10.1016/j.ydbio.2020.03.016 · 2020
IGFBP5 promotes neuronal apoptosis in a 6-OHDA-toxicant model of Parkinson’s disease by inhibiting the sonic hedgehog signaling pathway
10.1159/000538467 · 2024
The retrotrapezoid nucleus: central chemoreceptor and regulator of breathing automaticity
10.1016/j.tins.2019.09.002 · 2019
Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate
10.1097/00005792-197811000-00003 · 1978
Impaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndrome
10.3389/fnins.2015.00415 · 2015
Cross-comparison of human iPSC motor neuron models of familial and sporadic ALS reveals early and convergent transcriptomic disease signatures
10.1016/j.cels.2020.10.010 · 2021
Efficient derivation of sympathetic neurons from human pluripotent stem cells with a defined condition
10.1038/s41598-018-31256-1 · 2018
Neurofascin: a switch between neuronal plasticity and stability
10.1016/j.biocel.2012.01.012 · 2012
Neuroanatomic deficits in congenital central hypoventilation syndrome
10.1002/cne.20565 · 2005
Diffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome
10.1203/pdr.0b013e31817da10a · 2008
Rostral brain axonal injury in congenital central hypoventilation syndrome
10.1002/jnr.22385 · 2010
Progressive gray matter changes in patients with congenital central hypoventilation syndrome
10.1038/pr.2012.25 · 2012
L1cam-mediated developmental processes of the nervous system are differentially regulated by proteolytic processing
10.1038/s41598-019-39884-x · 2019
Stathmin 2 is a potential treatment target for TDP-43 proteinopathy in amyotrophic lateral sclerosis
10.1186/s40035-024-00413-0 · 2024
Organoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs
10.1016/j.stemcr.2023.05.020 · 2023
ONECUT2 overexpression promotes RAS-driven lung adenocarcinoma progression
10.1038/s41598-019-56277-2 · 2019
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
10.1136/jmg.2003.015412 · 2004
