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References from PHOX2B polyalanine repeat mutation alters the transcriptome of neuronal progenitor cells in congenital central hypoventilation syndrome. Local targets link to admitted publications; unresolved targets remain external evidence.
Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome
10.1016/j.omtn.2024.102319 · 2024 · External reference
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
10.1038/ng1130 · 2003 · External reference
Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions
10.1038/s41467-024-46236-5 · 2024 · External reference
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
10.1093/hmg/ddi188 · 2005 · External reference
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome
10.1164/rccm.200602-266cr · 2006 · External reference
What is the role of Stathmin-2 in axonal biology and degeneration?
10.1212/wnl.0000000000012419 · 2021 · External reference
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries
10.1038/ng.3921 · 2017 · External reference
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells
10.1042/bj20051386 · 2006 · External reference
Etonogestrel administration reduces the expression of PHOX2B and its target genes in the solitary tract nucleus
10.3390/ijms23094816 · 2022 · External reference
PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism
10.1074/jbc.m508368200 · 2005 · External reference
ToppGene suite for gene list enrichment analysis and candidate gene prioritization
10.1093/nar/gkp427 · 2009 · External reference
Inhalational Anesthetics induce neuronal protein aggregation and affect ER trafficking
10.1038/s41598-018-23335-0 · 2018 · External reference
Ongoing roles of Phox2 homeodomain transcription factors during neuronal differentiation
10.1242/dev.056747 · 2010 · External reference
Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways
10.1242/dev.00866 · 2003 · External reference
Alanine expansions associated with congenital central hypoventilation syndrome impair PHOX2B homeodomain-mediated dimerization and nuclear import
10.1074/jbc.m115.679027 · 2016 · External reference
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 · External reference
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease
10.1016/j.bbadis.2017.04.017 · 2017 · External reference
STAR: ultrafast universal RNA-seq aligner
10.1093/bioinformatics/bts635 · 2013 · External reference
A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons
10.1073/pnas.0709115105 · 2008 · External reference
Transcription factors Phox2a/2b upregulate expression of noradrenergic and dopaminergic phenotypes in aged rat brains
10.1007/s12640-020-00250-9 · 2020 · External reference
Primary alveolar hypoventilation (Ondine’s curse syndrome) in an infant without external arcuate nucleus. Case report
1979 · External reference
Chemosensitive Phox2b-expressing neurons are crucial for hypercapnic ventilatory response in the nucleus tractus solitarius
10.1113/jp274437 · 2017 · External reference
Activation of Phox2b-expressing neurons in the nucleus tractus Solitarii drives breathing in mice
10.1523/jneurosci.2048-18.2018 · 2019 · External reference
Wnt signaling regulates neural plate patterning in distinct temporal phases with dynamic transcriptional outputs
10.1016/j.ydbio.2020.03.016 · 2020 · External reference
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 · External reference
The retrotrapezoid nucleus: central chemoreceptor and regulator of breathing automaticity
10.1016/j.tins.2019.09.002 · 2019 · External reference
Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate
10.1097/00005792-197811000-00003 · 1978 · External reference
Impaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndrome
10.3389/fnins.2015.00415 · 2015 · External reference
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 · External reference
Efficient derivation of sympathetic neurons from human pluripotent stem cells with a defined condition
10.1038/s41598-018-31256-1 · 2018 · External reference
Neurofascin: a switch between neuronal plasticity and stability
10.1016/j.biocel.2012.01.012 · 2012 · External reference
Neuroanatomic deficits in congenital central hypoventilation syndrome
10.1002/cne.20565 · 2005 · External reference
Diffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome
10.1203/pdr.0b013e31817da10a · 2008 · External reference
Rostral brain axonal injury in congenital central hypoventilation syndrome
10.1002/jnr.22385 · 2010 · External reference
Progressive gray matter changes in patients with congenital central hypoventilation syndrome
10.1038/pr.2012.25 · 2012 · External reference
L1cam-mediated developmental processes of the nervous system are differentially regulated by proteolytic processing
10.1038/s41598-019-39884-x · 2019 · External reference
Stathmin 2 is a potential treatment target for TDP-43 proteinopathy in amyotrophic lateral sclerosis
10.1186/s40035-024-00413-0 · 2024 · External reference
Organoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs
10.1016/j.stemcr.2023.05.020 · 2023 · External reference
ONECUT2 overexpression promotes RAS-driven lung adenocarcinoma progression
10.1038/s41598-019-56277-2 · 2019 · External reference
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 · External reference
Maturation of neuronal activity in caudalized human brain organoids
2019 · External reference
Gamma-synucleinopathy: neurodegeneration associated with overexpression of the mouse protein
10.1093/hmg/ddp090 · 2009 · External reference
Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome
10.1007/s00401-015-1441-0 · 2015 · External reference
NETO1 guides development of glutamatergic connectivity in the Hippocampus by regulating axonal Kainate receptors
10.1523/eneuro.0048-17.2017 · 2017 · External reference
Salmon provides fast and bias-aware quantification of transcript expression
10.1038/nmeth.4197 · 2017 · External reference
Repeat expansion diseases
10.1016/b978-0-444-63233-3.00009-9 · 2018 · External reference
Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation
10.1111/febs.14841 · 2019 · External reference
Identification of Phox2b-regulated genes by expression profiling of cranial motoneuron precursors
10.1186/1749-8104-3-14 · 2008 · External reference
Derivation and expansion using only small molecules of human neural progenitors for neurodegenerative disease modeling
10.1371/annotation/6a917a2e-df4a-4ad9-99bb-6aa7218b833e · 2013 · External reference
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene
10.1111/j.1651-2227.2008.01039.x · 2009 · External reference
Comment on developmental alterations of the human retrotrapezoid nucleus homologue by Lavezzi et al
10.1016/j.autneu.2013.04.004 · 2013 · External reference
Emerging insights into transcriptional condensates
10.1038/s12276-024-01228-9 · 2024 · External reference
MiDReG: a method of mining developmentally regulated genes using Boolean implications
10.1073/pnas.0913635107 · 2010 · External reference
Neurocan contributes to perineuronal net development
10.1016/j.neuroscience.2020.06.040 · 2020 · External reference
Transcriptomic neuron types vary topographically in function and morphology
10.1038/s41586-024-08518-2 · 2025 · External reference
STMN2 overexpression promotes cell proliferation and EMT in pancreatic cancer mediated by WNT/beta-catenin signaling
2023 · External reference
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
10.1093/hmg/ddy277 · 2018 · External reference
Novel neuropathologic findings in the Haddad syndrome
10.1007/s00401-009-0599-8 · 2010 · External reference
Guidelines for diagnosis and management of congenital central hypoventilation syndrome
10.1186/s13023-020-01460-2 · 2020 · External reference
Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS
10.3389/fped.2023.1090084 · 2023 · External reference
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
10.1002/ajmg.a.20527 · 2003 · External reference
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine
10.1002/ppul.21045 · 2009 · External reference
HAND2 assists MYCN enhancer invasion to regulate a noradrenergic neuroblastoma phenotype
10.1158/0008-5472.can-22-2042 · 2023 · External reference
