{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:26:27Z","timestamp":1790666787297,"version":"4.1.0"},"reference-count":32,"publisher":"National Academy of Sciences","issue":"51","license":[{"start":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T00:00:00Z","timestamp":1543363200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011264","name":"EC | FP7 | FP7 People: Marie-Curie Actions","doi-asserted-by":"publisher","award":["302477"],"award-info":[{"award-number":["302477"]}],"id":[{"id":"10.13039\/100011264","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB 665"],"award-info":[{"award-number":["SFB 665"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Excellence cluster NeuroCure","award":["NeuroCure"],"award-info":[{"award-number":["NeuroCure"]}]},{"name":"Helmholtz Association","award":["MDC"],"award-info":[{"award-number":["MDC"]}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-15-CE16-0013-02"],"award-info":[{"award-number":["ANR-15-CE16-0013-02"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["DEQ20120323709"],"award-info":[{"award-number":["DEQ20120323709"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2018,12,18]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Maintaining low CO\n                    <jats:sub>2<\/jats:sub>\n                    levels in our bodies is critical for life and depends on neurons that generate the respiratory rhythm and monitor tissue gas levels. Inadequate response to increasing levels of CO\n                    <jats:sub>2<\/jats:sub>\n                    is common in congenital hypoventilation diseases. Here, we identified a mutation in\n                    <jats:italic>LBX1<\/jats:italic>\n                    , a homeodomain transcription factor, that causes congenital hypoventilation in humans. The mutation alters the C terminus of the protein without disturbing its DNA-binding domain. Mouse models carrying an analogous mutation recapitulate the disease. The mutation spares most Lbx1 functions, but selectively affects development of a small group of neurons central in respiration. Our work reveals a very unusual pathomechanism, a mutation that hampers a small subset of functions carried out by a transcription factor.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1813520115","type":"journal-article","created":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T19:35:14Z","timestamp":1543433714000},"page":"13021-13026","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":45,"title":["Mutation in\n                    <i>LBX1\/Lbx1<\/i>\n                    precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice"],"prefix":"10.1073","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0498-708X","authenticated-orcid":false,"given":"Luis Rodrigo","family":"Hernandez-Miranda","sequence":"first","affiliation":[{"name":"Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel M.","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Development and Disease Group, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;"},{"name":"Institute for Medical and Human Genetics, Charit\u00e9 Universit\u00e4tsmedizin Berlin, 13353 Berlin, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Louis","family":"Ruffault","sequence":"additional","affiliation":[{"name":"Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany;"},{"name":"Hindbrain Integrative Neurobiology Group, Paris-Saclay Institute for Neuroscience, UMR9197\/CNRS, 91190 Gif sur Yvette, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Larrosa","sequence":"additional","affiliation":[{"name":"Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kira","family":"Balueva","sequence":"additional","affiliation":[{"name":"Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8096-1853","authenticated-orcid":false,"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willemien de","family":"Weerd","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Stolte-Dijkstra","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M. 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Germany;"},{"name":"Institute for Medical and Human Genetics, Charit\u00e9 Universit\u00e4tsmedizin Berlin, 13353 Berlin, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Birchmeier","sequence":"additional","affiliation":[{"name":"Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, 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