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Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 5/2017, Volume 173, Issue 5, pp. 1200 - 1207
Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic... 
CCHS | mRNA reinitiation | PHOX2B
Journal Article
Nature Medicine, ISSN 1078-8956, 01/2017, Volume 23, Issue 1, pp. 49 - 59
The enteric nervous system (ENS) of the gastrointestinal tract controls many diverse functions, including motility and epithelial permeability. Perturbations... 
MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | GUT | COLON | LINEAGES | PHOX2B | CELL BIOLOGY | THERAPY | NEURONS | HIRSCHSPRUNG DISEASE | EXPRESSION | MOTILITY | Immunohistochemistry | Interstitial Cells of Cajal - physiology | Calcium - metabolism | Humans | Hirschsprung Disease - genetics | Myenteric Plexus - physiology | Submucous Plexus - physiology | Neural Crest | Enteric Nervous System - physiopathology | Gastrointestinal Motility | Organoids | Neurons - physiology | Intestines - physiology | Real-Time Polymerase Chain Reaction | Cell Line | Submucous Plexus - physiopathology | Tissue Engineering - methods | Hirschsprung Disease - physiopathology | Neuroglia - physiology | Permeability | Transcription Factors - genetics | Mice, SCID | Chick Embryo | Homeodomain Proteins - genetics | Myenteric Plexus - physiopathology | Microscopy, Confocal | Animals | Models, Biological | Neurogenesis - physiology | Mice | Intestines - physiopathology | Mutation | Enteric Nervous System - physiology | In Vitro Techniques | Induced Pluripotent Stem Cells | Usage | Motility | Intestine, Small | Gastrointestinal system | Stem cells | Models | Nervous system, Autonomic | Neurons | Calcium | Mesenchyme | Embryo cells | Interstitial cells | Nervous system | Glial cells | Waves | Contraction | Neuronal-glial interactions | Calcium signalling | Coupling (molecular) | Enteric nervous system | Wave propagation | Intestine | Submucosal plexus | Phox2b protein | Tissue engineering | Gastrointestinal tract | Rhythms | Interstitial cells of Cajal | Neural crest | Hirschsprung's disease | Pluripotency
Journal Article
Journal Article
PEDIATRIC RESEARCH, ISSN 0031-3998, 10/2012, Volume 72, Issue 4, pp. 439 - 440
Journal Article
Journal Article
Brain Research Bulletin, ISSN 0361-9230, 10/2019, Volume 152, pp. 107 - 116
Pax6 is an important transcription factor expressed in several discrete domains of the developing central nervous system. It has been reported that Pax6 is... 
Phox2b | Rats | Medulla | Pax6 | Respiratory center
Journal Article
Journal of Comparative Neurology, ISSN 0021-9967, 12/2019, Volume 527, Issue 17, pp. 2875 - 2884
Chemosensitivity is a key mechanism for the regulation of breathing in vertebrates. The retrotrapezoid nucleus is a crucial hub for respiratory chemoreception... 
Phox2b | RRID:AB2315161 | anatomy | Macaca fascicularis | immunohistochemistry | RRID:AB2340586 | RRID:SCR017110 | RRID:SCR017111 | in situ hybridization | retrotrapezoid nucleus | Protons | Brain stem | Retrotrapezoid nucleus | Rodents | Solitary tract nucleus | Nervous system | Facial nerve | Chemoreception | Hybridization | Phox2b protein
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2018, Volume 176, Issue 6, pp. 1398 - 1404
Journal Article
Histopathology, ISSN 0309-0167, 09/2018, Volume 73, Issue 3, pp. 483 - 491
Journal Article
The FEBS Journal, ISSN 1742-464X, 07/2019, Volume 286, Issue 13, pp. 2505 - 2521
About 90% of congenital central hypoventilation syndrome (CCHS) patients show polyalanine triplet expansions in the coding region of transcription factor... 
CCHS | polyalanine expansion | PHOX2B | fibrils | CORE | CLUSTERS | REPEAT | EXPANSIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRAMESHIFT MUTATIONS | MECHANISMS | EXPRESSION | Atomic force microscopy | Analysis | Alanine | Pathogenesis | Light scattering | Circular dichroism | Proteins | Fibrillogenesis | Hypoventilation | Polyalanine | Microscopy | Dichroism | Spectrofluorimetry | Phox2b protein | Deoxyribonucleic acid--DNA
Journal Article
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