Associated Papers
Human Pluripotent Stem Cell-Based Models for Hirschsprung Disease: From 2-D Cell to 3-D Organoid Model.
Lui KN et al.
Cells, 2022
NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.
Chang DF et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021
A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Pace NP et al.
Molecular Genetics & Genomic Medicine, 2020
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
Schirwani S et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2017
Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
Cain JT et al.
American Journal of Medical Genetics. Part A, 2017
Engineered human pluripotent-stem-cell-derived intestinal tissues with a functional enteric nervous system.
Workman MJ et al.
Nature Medicine, 2017
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Magalhães J et al.
Sleep & Breathing = Schlaf & Atmung, 2015
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Weese-Mayer DE et al.
Revue Des Maladies Respiratoires, 2013
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
Di Lascio S et al.
Neurobiology of Disease, 2013
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Weese-Mayer DE et al.
American Journal of Respiratory and Critical Care Medicine, 2010
PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.
Amiel J et al.
Respiratory Physiology & Neurobiology, 2009
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Trochet D et al.
Human Mutation, 2009