{"id":"https://openalex.org/W7213540522","doi":"https://doi.org/10.64898/2026.09.12.750943","title":"Mafb-lineage activation of a short polyalanine (+5) PHOX2B mutation produces severe respiratory dysfunction with preserved postnatal weight gain among survivors in a mouse model of congenital central hypoventilation syndrome","display_name":"Mafb-lineage activation of a short polyalanine (+5) PHOX2B mutation produces severe respiratory dysfunction with preserved postnatal weight gain among survivors in a mouse model of congenital central hypoventilation syndrome","publication_year":2026,"publication_date":"2026-09-17","ids":{"openalex":"https://openalex.org/W7213540522","doi":"https://doi.org/10.64898/2026.09.12.750943"},"language":"en","primary_location":{"id":"doi:10.64898/2026.09.12.750943","doi":"https://doi.org/10.64898/2026.09.12.750943","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.12.750943","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/17/2026.09.12.750943.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/17/2026.09.12.750943.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023046028","display_name":"N\u00e9lina Ramanantsoa","orcid":"https://orcid.org/0000-0001-6695-8359","observed_orcids":["https://orcid.org/0000-0001-6695-8359"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nelina Ramanantsoa","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0001-6695-8359","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013254484","display_name":"Charline Riaud","orcid":"https://orcid.org/0000-0002-3928-5379","observed_orcids":["https://orcid.org/0000-0002-3928-5379"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Charline Riaud","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-3928-5379","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027374470","display_name":"Am\u00e9lia Madani","orcid":"https://orcid.org/0000-0002-8891-4645","observed_orcids":["https://orcid.org/0000-0002-8891-4645"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Amelia Madani","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112918347","display_name":"Pauline Andres","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pauline Andres","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079495682","display_name":"Thomas Bourgeois","orcid":"https://orcid.org/0000-0002-9565-9814","observed_orcids":["https://orcid.org/0000-0002-9565-9814"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Thomas Bourgeois","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-9565-9814","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5152103895","display_name":"Jean-Luc Mandaba","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I4210102244","display_name":"Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine","ror":"https://ror.org/01a6zh966","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210096427","https://openalex.org/I4210102244"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Luc Mandaba","raw_affiliation_strings":["Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210102244"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047615876","display_name":"Laura Cardoit","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I4210102244","display_name":"Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine","ror":"https://ror.org/01a6zh966","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210096427","https://openalex.org/I4210102244"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Laura Cardoit","raw_affiliation_strings":["Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210102244"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090596433","display_name":"Jean Forgue","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I4210102244","display_name":"Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine","ror":"https://ror.org/01a6zh966","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210096427","https://openalex.org/I4210102244"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean Forgue","raw_affiliation_strings":["Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210102244"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5152100603","display_name":"Nathaly Romero","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nathaly Romero","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5152063908","display_name":"Manon Perrain","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Manon Perrain","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5152069044","display_name":"Nevine Antoun","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nevine Antoun","raw_affiliation_strings":["Service de Pneumologie, Allergologie, CRCM P\u00e9diatrique, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Pneumologie, Allergologie, CRCM P\u00e9diatrique, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082076754","display_name":"\u00c9l\u00e9onore Sizun","orcid":"https://orcid.org/0000-0002-2188-4023","observed_orcids":["https://orcid.org/0000-0002-2188-4023"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Eleonore Sizun","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-2188-4023","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055269702","display_name":"Maud Ringot","orcid":"https://orcid.org/0000-0003-1994-4258","observed_orcids":["https://orcid.org/0000-0003-1994-4258"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Maud Ringot","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0003-1994-4258","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068599607","display_name":"Jorge Gallego","orcid":"https://orcid.org/0000-0002-4291-472X","observed_orcids":["https://orcid.org/0000-0002-4291-472X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jorge Gallego","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-4291-472X","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050095849","display_name":"Benjamin Dudoignon","orcid":"https://orcid.org/0000-0003-0827-616X","observed_orcids":["https://orcid.org/0000-0003-0827-616X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Benjamin Dudoignon","raw_affiliation_strings":["Service d\u2019Explorations Fonctionnelles P\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0003-0827-616X","affiliations":[{"raw_affiliation_string":"Service d\u2019Explorations Fonctionnelles P\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002825591","display_name":"Plamen Bokov","orcid":"https://orcid.org/0000-0003-0604-2482","observed_orcids":["https://orcid.org/0000-0003-0604-2482"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Plamen Bokov","raw_affiliation_strings":["Service d\u2019Explorations Fonctionnelles P\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0003-0604-2482","affiliations":[{"raw_affiliation_string":"Service d\u2019Explorations Fonctionnelles P\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077076798","display_name":"St\u00e9phane Dauger","orcid":"https://orcid.org/0000-0002-2916-4610","observed_orcids":["https://orcid.org/0000-0002-2916-4610"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"St\u00e9phane Dauger","raw_affiliation_strings":["Service de M\u00e9decine intensive-R\u00e9animation p\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-2916-4610","affiliations":[{"raw_affiliation_string":"Service de M\u00e9decine intensive-R\u00e9animation p\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038029864","display_name":"Marie\u2010Pia d\u2019Ortho","orcid":"https://orcid.org/0000-0003-3119-0970","observed_orcids":["https://orcid.org/0000-0003-3119-0970"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210145170","display_name":"H\u00f4pital Bichat-Claude-Bernard","ror":"https://ror.org/03fdnmv92","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210145170"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie-Pia d\u2019Ortho","raw_affiliation_strings":["Service de Physiologie-Explorations Fonctionnelles, AP-HP, H\u00f4pital Bichat, Paris, France","Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0003-3119-0970","affiliations":[{"raw_affiliation_string":"Service de Physiologie-Explorations Fonctionnelles, AP-HP, H\u00f4pital Bichat, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210145170"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029047109","display_name":"Christophe Delclaux","orcid":"https://orcid.org/0000-0003-2786-0812","observed_orcids":["https://orcid.org/0000-0003-2786-0812"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christophe Delclaux","raw_affiliation_strings":["Service d\u2019Explorations Fonctionnelles P\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0003-2786-0812","affiliations":[{"raw_affiliation_string":"Service d\u2019Explorations Fonctionnelles P\u00e9diatriques, AP-HP, H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056515397","display_name":"Muriel Thoby\u2010Brisson","orcid":"https://orcid.org/0000-0003-3214-1724","observed_orcids":["https://orcid.org/0000-0003-3214-1724"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I4210102244","display_name":"Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine","ror":"https://ror.org/01a6zh966","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210096427","https://openalex.org/I4210102244"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Muriel Thoby-Brisson","raw_affiliation_strings":["Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France"],"raw_orcid":"https://orcid.org/0000-0003-3214-1724","affiliations":[{"raw_affiliation_string":"Universit\u00e9 de Bordeaux, Institut de Neurosciences Cognitives et Int\u00e9gratives d\u2019Aquitaine, CNRS, Bordeaux, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I15057530","https://openalex.org/I4210102244"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027084837","display_name":"Boris Matrot","orcid":"https://orcid.org/0000-0002-7845-9618","observed_orcids":["https://orcid.org/0000-0002-7845-9618"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4387155530","display_name":"NeuroDiderot","ror":"https://ror.org/014ndnr76","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Boris Matrot","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-7845-9618","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, NeuroDiderot, Inserm U1141, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5027084837"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4387155530"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11456","display_name":"Neuroscience of respiration and sleep","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11456","display_name":"Neuroscience of respiration and sleep","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10234","display_name":"Obstructive Sleep Apnea Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-central-hypoventilation-syndrome","display_name":"congenital central hypoventilation syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/phox2b","display_name":"PHOX2B","score":0.9909999966621399},{"id":"https://openalex.org/keywords/polyalanine-repeat-expansion","display_name":"polyalanine repeat expansion","score":0.9290000200271606},{"id":"https://openalex.org/keywords/retrotrapezoid-nucleus","display_name":"retrotrapezoid nucleus","score":0.8709999918937683},{"id":"https://openalex.org/keywords/hindbrain-development","display_name":"hindbrain development","score":0.6890000104904175},{"id":"https://openalex.org/keywords/respiratory-dysfunction","display_name":"respiratory dysfunction","score":0.5709999799728394},{"id":"https://openalex.org/keywords/neonatal-mortality","display_name":"neonatal mortality","score":0.8740000128746033},{"id":"https://openalex.org/keywords/postnatal-weight-gain","display_name":"postnatal weight gain","score":0.8199999928474426},{"id":"https://openalex.org/keywords/hypercapnic-ventilatory-response","display_name":"hypercapnic ventilatory response","score":0.8489999771118164},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.8259999752044678}],"concepts":[{"id":"https://openalex.org/C2910106207","wikidata":"https://www.wikidata.org/wiki/Q979129","display_name":"Congenital central hypoventilation syndrome","level":4,"score":0.8831999897956848},{"id":"https://openalex.org/C534529494","wikidata":"https://www.wikidata.org/wiki/Q7891","display_name":"Respiratory system","level":2,"score":0.5971999764442444},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.574400007724762},{"id":"https://openalex.org/C2779594553","wikidata":"https://www.wikidata.org/wiki/Q1641494","display_name":"Hypoventilation","level":3,"score":0.5092999935150146},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.482699990272522},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4602000117301941},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.41200000047683716},{"id":"https://openalex.org/C2781326671","wikidata":"https://www.wikidata.org/wiki/Q754424","display_name":"Apnea","level":2,"score":0.4032999873161316},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3840999901294708},{"id":"https://openalex.org/C2780595715","wikidata":"https://www.wikidata.org/wiki/Q7168631","display_name":"Periodic breathing","level":3,"score":0.3517000079154968},{"id":"https://openalex.org/C2776817793","wikidata":"https://www.wikidata.org/wiki/Q6553369","display_name":"Lineage (genetic)","level":3,"score":0.35089999437332153},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3264999985694885},{"id":"https://openalex.org/C2777075493","wikidata":"https://www.wikidata.org/wiki/Q1137072","display_name":"Hindbrain","level":3,"score":0.31380000710487366},{"id":"https://openalex.org/C2780320433","wikidata":"https://www.wikidata.org/wiki/Q3403879","display_name":"Weight gain","level":3,"score":0.31130000948905945},{"id":"https://openalex.org/C2776888751","wikidata":"https://www.wikidata.org/wiki/Q767485","display_name":"Respiratory failure","level":2,"score":0.3059999942779541},{"id":"https://openalex.org/C2776178081","wikidata":"https://www.wikidata.org/wiki/Q3286546","display_name":"Respiratory disease","level":3,"score":0.30169999599456787},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2809999883174896},{"id":"https://openalex.org/C200457457","wikidata":"https://www.wikidata.org/wiki/Q584049","display_name":"Ventilation (architecture)","level":2,"score":0.2687999904155731}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.64898/2026.09.12.750943","doi":"https://doi.org/10.64898/2026.09.12.750943","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.12.750943","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/17/2026.09.12.750943.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.64898/2026.09.12.750943","doi":"https://doi.org/10.64898/2026.09.12.750943","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.12.750943","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/09/17/2026.09.12.750943.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1190173965","display_name":null,"funder_award_id":"France2030","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G166588285","display_name":"Institut Robert-Debr\u00e9 du Cerveau de l\u2019Enfant","funder_award_id":"ANR-23-IAHU-0010","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G7080048889","display_name":null,"funder_award_id":"ANR-23","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"}],"funders":[{"id":"https://openalex.org/F4320309966","display_name":"\u00c9cole Normale Sup\u00e9rieure","ror":"https://ror.org/05a0dhs15"},{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"},{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"},{"id":"https://openalex.org/F4320321589","display_name":"Fondation pour la Recherche M\u00e9dicale","ror":"https://ror.org/04w6kn183"},{"id":"https://openalex.org/F4320322892","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73"},{"id":"https://openalex.org/F4320325530","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02"},{"id":"https://openalex.org/F4320331341","display_name":"PHENOMIN","ror":null},{"id":"https://openalex.org/F4320338065","display_name":"Institute of Genetics","ror":"https://ror.org/03gwhmn95"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7213540522.pdf","grobid_xml":"https://content.openalex.org/works/W7213540522.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2071811870","https://openalex.org/W2078807175","https://openalex.org/W1989174024","https://openalex.org/W1974679034","https://openalex.org/W2030348535","https://openalex.org/W2093631406","https://openalex.org/W2018008165","https://openalex.org/W2117063762","https://openalex.org/W2001323921","https://openalex.org/W2162345584"],"abstract_inverted_index":{"Abstract":[0],"Rationale":[1],"Congenital":[2],"central":[3],"hypoventilation":[4],"syndrome":[5],"(CCHS)":[6],"is":[7,236,250],"most":[8],"commonly":[9],"caused":[10,47],"by":[11,48],"polyalanine":[12,218],"repeat":[13],"mutations":[14],"in":[15,18,95,107,172,203,226,232],"PHOX2B.":[16],"The":[17],"vivo":[19,96],"consequences":[20],"of":[21,29,57,168,224],"the":[22,27,34,44,49,55,58,63,169,173,201,229,233],"short":[23,216],"five-alanine":[24],"expansion":[25,219],"and":[26,53,75,90,100,113,122,145,163,185,200,243],"contribution":[28,56],"specific":[30],"hindbrain":[31,65],"lineages":[32],"to":[33,102,149,161,238],"resulting":[35],"respiratory":[36,156,181,222,241],"phenotype":[37,46],"remain":[38],"poorly":[39],"understood.":[40],"Objectives":[41],"To":[42],"characterize":[43],"neonatal":[45,131,187,244],"Phox2b":[50,72,126],"25Ala/+":[51,127],"mutation":[52],"determine":[54],"MafB":[59,174,234],"lineage":[60,175,235],"associated":[61,178],"with":[62,78,179,211],"r5\u2013r6":[64],"territory.":[66],"Methods":[67],"We":[68],"generated":[69],"a":[70,154],"conditional":[71],"25Ala":[73],"allele":[74,171,231],"studied":[76],"mice":[77],"constitutive":[79,212],"or":[80],"MafB-lineage":[81,198],"activation.":[82],"Neonatal":[83],"survival,":[84],"growth,":[85],"gastric":[86,138,204],"milk":[87,139,205],"content,":[88],"ventilation,":[89],"hypercapnic":[91],"responses":[92,101,148],"were":[93,105],"assessed":[94],".":[97],"Respiratory-network":[98],"activity":[99],"extracellular":[103],"acidification":[104],"recorded":[106],"E18.5":[108],"isolated":[109],"brainstem\u2013spinal":[110],"cord":[111],"preparations,":[112],"retrotrapezoid":[114],"nucleus":[115],"(RTN)":[116],"development":[117],"was":[118,176,194,207],"examined":[119],"histologically.":[120],"Measurements":[121],"Main":[123],"Results":[124],"Constitutive":[125],"pups":[128],"exhibited":[129],"high":[130],"mortality,":[132,245],"markedly":[133],"impaired":[134,159],"weight":[135,192,248],"gain,":[136],"reduced":[137],"scores,":[140],"hypoventilation,":[141],"increased":[142],"apnea":[143],"time,":[144],"blunted":[146],"ventilatory":[147],"CO\u2082.":[150],"Embryonic":[151],"preparations":[152],"showed":[153],"slower":[155],"rhythm,":[157],"an":[158],"response":[160],"acidification,":[162],"severe":[164,180,240],"RTN":[165,183],"dysgenesis.":[166],"Activation":[167],"mutant":[170,230],"also":[177],"dysfunction,":[182],"dysgenesis,":[184],"early":[186],"mortality.":[188],"In":[189],"contrast,":[190],"postnatal":[191,247],"gain":[193,249],"preserved":[195,251],"among":[196,252],"surviving":[197],"mutants,":[199],"reduction":[202],"scores":[206],"significantly":[208],"attenuated":[209],"compared":[210],"mutants.":[213],"Conclusions":[214],"A":[215],"PHOX2B":[217],"reproduces":[220],"major":[221],"features":[223],"CCHS":[225],"mice.":[227],"Activating":[228],"sufficient":[237],"cause":[239],"dysfunction":[242],"whereas":[246],"survivors.":[253]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-09-18T00:00:00"}