Causative and common PHOX2B variants define a broad phenotypic spectrum
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13633
Abstract: Paired Like homeobox 2B (PHOX2B) is a gene crucial for the differentiation of the neural lineages of the autonomic nervous system (ANS), whose coding mutations cause congenital central hypoventilation syndrome (CCHS). The vast majority of… read more here.
Keywords: phenotypic; spectrum; causative common; phox2b variants ... See more keywords
Examination of PHOX2B in adult neuroendocrine neoplasms reveals relatively frequent expression in phaeochromocytomas and paragangliomas
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DOI: 10.1111/his.13243
Abstract: Paired‐like homeobox 2b (PHOX2B) is a transcription factor with expression outside of the central nervous system restricted to neurons and chromaffin cells of the autonomic nervous system. Germline mutations cause congenital central hypoventilation syndrome and… read more here.
Keywords: phaeochromocytomas paragangliomas; nervous system; paragangliomas; expression ... See more keywords
Novel PHOX2B mutations in congenital central hypoventilation syndrome
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DOI: 10.1111/ped.13812
Abstract: Congenital central hypoventilation syndrome (CCHS) is caused by mutation of paird‐like homeobox 2B (PHOX2B). Approximately 90% of patients were found to carry polyalanine repeat expansion mutation (PARM), and the remaining 10% had non‐PARM (NPARM). In… read more here.
Keywords: congenital central; central hypoventilation; hypoventilation; phox2b ... See more keywords
Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23094816
Abstract: Heterozygous mutations of the transcription factor PHOX2B are responsible for Congenital Central Hypoventilation Syndrome, a neurological disorder characterized by inadequate respiratory response to hypercapnia and life-threatening hypoventilation during sleep. Although no cure is currently available,… read more here.
Keywords: phox2b target; target genes; solitary tract; phox2b ... See more keywords