A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

Proceedings of the National Academy of Sciences of the United States of America

Volumn 105, Issue 3, 2008, Pages 1067-1072

  Dubreuil, Véronique ^a,b   Ramanantsoa, Nélina ^c,d   Trochet, Delphine ^d,e   Vaubourg, Vanessa ^c,d   Amiel, Jeanne ^d,e   Gallego, Jorge ^c,d   Brunet, Jean François ^a,b   Goridis, Christo ^a,b  

^a ECOLE NORMALE SUPÉRIEURE   (France)

^b CNRS   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Brainstem; Congenital central hypoventilation syndrome; Neurodegenerative disease; Respiration

Indexed keywords

CARBON DIOXIDE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PHOX2B; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; NBPHOX PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APNEA; ARTICLE; BREATHING; CELL LOSS; CHEMOSENSITIVITY; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONTROLLED STUDY; FATALITY; FEMALE; GENE EXPRESSION; GENE MUTATION; HYPOVENTILATION; INTERNEURON; MALE; MOUSE; NERVE CELL; NEWBORN; NEWBORN DEATH; NONHUMAN; PRIORITY JOURNAL; ANIMAL; C57BL MOUSE; CENTRAL SLEEP APNEA SYNDROME; GENETICS; HUMAN; METABOLISM; MUTATION; NEUROLOGIC DISEASE; PATHOLOGY; PATHOPHYSIOLOGY; SENSITIVITY AND SPECIFICITY; TRANSGENIC MOUSE;

MUS;

ANIMALS; CARBON DIOXIDE; HOMEODOMAIN PROTEINS; HUMANS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUTATION; NERVOUS SYSTEM DISEASES; SENSITIVITY AND SPECIFICITY; SLEEP APNEA, CENTRAL; TRANSCRIPTION FACTORS;

EID: 38949086617     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0709115105     Document Type: Article

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