Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module
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Auteurs : Matthew Koss [États-Unis] ; Alexandre Bolze [États-Unis] ; Andrea Brendolan [États-Unis] ; Matilde Saggese [États-Unis] ; Terence D. Capellini [États-Unis] ; Ekaterina Bojilova [États-Unis] ; Bertrand Boisson [États-Unis] ; Owen W. J. Prall [Australie] ; David Elliott [Australie] ; Mark Solloway [Australie] ; Elisa Lenti ; Chisa Hidaka [États-Unis] ; Ching-Pin Chang [États-Unis] ; Nizar Mahlaoui ; Richard P. Harvey [Australie] ; Jean-Laurent Casanova [États-Unis] ; Licia Selleri [États-Unis]Source :
- Developmental Cell [ 1534-5807 ] ; 2012.
Abstract
The molecular determinants of spleen organogenesis and the etiology of isolated congenital asplenia (ICA), a life-threatening human condition, are unknown. We previously reported that
Url:
DOI: 10.1016/j.devcel.2012.02.009
PubMed: 22560297
PubMed Central: 3356505
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module</title><author><name sortKey="Koss, Matthew" sort="Koss, Matthew" uniqKey="Koss M" first="Matthew" last="Koss">Matthew Koss</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bolze, Alexandre" sort="Bolze, Alexandre" uniqKey="Bolze A" first="Alexandre" last="Bolze">Alexandre Bolze</name><affiliation wicri:level="2"><nlm:aff id="A2">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Brendolan, Andrea" sort="Brendolan, Andrea" uniqKey="Brendolan A" first="Andrea" last="Brendolan">Andrea Brendolan</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation><nlm:aff id="A3">Laboratory of Lymphoid Organ Development, Fondazione Centro San Raffaele Del Monte Tabor, Milan, Italy, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Saggese, Matilde" sort="Saggese, Matilde" uniqKey="Saggese M" first="Matilde" last="Saggese">Matilde Saggese</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Capellini, Terence D" sort="Capellini, Terence D" uniqKey="Capellini T" first="Terence D." last="Capellini">Terence D. Capellini</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bojilova, Ekaterina" sort="Bojilova, Ekaterina" uniqKey="Bojilova E" first="Ekaterina" last="Bojilova">Ekaterina Bojilova</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation wicri:level="2"><nlm:aff id="A2">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Prall, Owen W J" sort="Prall, Owen W J" uniqKey="Prall O" first="Owen W. J." last="Prall">Owen W. J. Prall</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Elliott, David" sort="Elliott, David" uniqKey="Elliott D" first="David" last="Elliott">David Elliott</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Solloway, Mark" sort="Solloway, Mark" uniqKey="Solloway M" first="Mark" last="Solloway">Mark Solloway</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Lenti, Elisa" sort="Lenti, Elisa" uniqKey="Lenti E" first="Elisa" last="Lenti">Elisa Lenti</name><affiliation><nlm:aff id="A3">Laboratory of Lymphoid Organ Development, Fondazione Centro San Raffaele Del Monte Tabor, Milan, Italy, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Hidaka, Chisa" sort="Hidaka, Chisa" uniqKey="Hidaka C" first="Chisa" last="Hidaka">Chisa Hidaka</name><affiliation wicri:level="2"><nlm:aff id="A5">Laboratory for Soft Tissue Research, Hospital of Special Surgery, New York, NY 10021, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory for Soft Tissue Research, Hospital of Special Surgery, New York, NY 10021</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Chang, Ching Pin" sort="Chang, Ching Pin" uniqKey="Chang C" first="Ching-Pin" last="Chang">Ching-Pin Chang</name><affiliation wicri:level="2"><nlm:aff id="A6">Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mahlaoui, Nizar" sort="Mahlaoui, Nizar" uniqKey="Mahlaoui N" first="Nizar" last="Mahlaoui">Nizar Mahlaoui</name><affiliation><nlm:aff id="A7">Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Harvey, Richard P" sort="Harvey, Richard P" uniqKey="Harvey R" first="Richard P." last="Harvey">Richard P. Harvey</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A8">Faculty of Medicine, University of New South Wales, Kensington, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Faculty of Medicine, University of New South Wales, Kensington</wicri:regionArea><wicri:noRegion>Kensington</wicri:noRegion></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="2"><nlm:aff id="A2">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation><nlm:aff id="A7">Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation><affiliation><nlm:aff id="A9">University Paris Descartes, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation><affiliation><nlm:aff id="A10">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale, U980, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Selleri, Licia" sort="Selleri, Licia" uniqKey="Selleri L" first="Licia" last="Selleri">Licia Selleri</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22560297</idno><idno type="pmc">3356505</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356505</idno><idno type="RBID">PMC:3356505</idno><idno type="doi">10.1016/j.devcel.2012.02.009</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001D93</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001D93</idno><idno type="wicri:Area/Pmc/Curation">001C49</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001C49</idno><idno type="wicri:Area/Pmc/Checkpoint">002000</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002000</idno><idno type="wicri:Area/Ncbi/Merge">000E04</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module</title><author><name sortKey="Koss, Matthew" sort="Koss, Matthew" uniqKey="Koss M" first="Matthew" last="Koss">Matthew Koss</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bolze, Alexandre" sort="Bolze, Alexandre" uniqKey="Bolze A" first="Alexandre" last="Bolze">Alexandre Bolze</name><affiliation wicri:level="2"><nlm:aff id="A2">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Brendolan, Andrea" sort="Brendolan, Andrea" uniqKey="Brendolan A" first="Andrea" last="Brendolan">Andrea Brendolan</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation><nlm:aff id="A3">Laboratory of Lymphoid Organ Development, Fondazione Centro San Raffaele Del Monte Tabor, Milan, Italy, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Saggese, Matilde" sort="Saggese, Matilde" uniqKey="Saggese M" first="Matilde" last="Saggese">Matilde Saggese</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Capellini, Terence D" sort="Capellini, Terence D" uniqKey="Capellini T" first="Terence D." last="Capellini">Terence D. Capellini</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bojilova, Ekaterina" sort="Bojilova, Ekaterina" uniqKey="Bojilova E" first="Ekaterina" last="Bojilova">Ekaterina Bojilova</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation wicri:level="2"><nlm:aff id="A2">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Prall, Owen W J" sort="Prall, Owen W J" uniqKey="Prall O" first="Owen W. J." last="Prall">Owen W. J. Prall</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Elliott, David" sort="Elliott, David" uniqKey="Elliott D" first="David" last="Elliott">David Elliott</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Solloway, Mark" sort="Solloway, Mark" uniqKey="Solloway M" first="Mark" last="Solloway">Mark Solloway</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Lenti, Elisa" sort="Lenti, Elisa" uniqKey="Lenti E" first="Elisa" last="Lenti">Elisa Lenti</name><affiliation><nlm:aff id="A3">Laboratory of Lymphoid Organ Development, Fondazione Centro San Raffaele Del Monte Tabor, Milan, Italy, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Hidaka, Chisa" sort="Hidaka, Chisa" uniqKey="Hidaka C" first="Chisa" last="Hidaka">Chisa Hidaka</name><affiliation wicri:level="2"><nlm:aff id="A5">Laboratory for Soft Tissue Research, Hospital of Special Surgery, New York, NY 10021, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory for Soft Tissue Research, Hospital of Special Surgery, New York, NY 10021</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Chang, Ching Pin" sort="Chang, Ching Pin" uniqKey="Chang C" first="Ching-Pin" last="Chang">Ching-Pin Chang</name><affiliation wicri:level="2"><nlm:aff id="A6">Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mahlaoui, Nizar" sort="Mahlaoui, Nizar" uniqKey="Mahlaoui N" first="Nizar" last="Mahlaoui">Nizar Mahlaoui</name><affiliation><nlm:aff id="A7">Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Harvey, Richard P" sort="Harvey, Richard P" uniqKey="Harvey R" first="Richard P." last="Harvey">Richard P. Harvey</name><affiliation wicri:level="1"><nlm:aff id="A4">The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Victor Chang Cardiac Research Institute, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A8">Faculty of Medicine, University of New South Wales, Kensington, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Faculty of Medicine, University of New South Wales, Kensington</wicri:regionArea><wicri:noRegion>Kensington</wicri:noRegion></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="2"><nlm:aff id="A2">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation><nlm:aff id="A7">Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation><affiliation><nlm:aff id="A9">University Paris Descartes, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation><affiliation><nlm:aff id="A10">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale, U980, Paris 75015, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Selleri, Licia" sort="Selleri, Licia" uniqKey="Selleri L" first="Licia" last="Selleri">Licia Selleri</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></analytic><series><title level="j">Developmental Cell</title><idno type="ISSN">1534-5807</idno><idno type="eISSN">1878-1551</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>SUMMARY</title><p id="P6">The molecular determinants of spleen organogenesis and the etiology of isolated congenital asplenia (ICA), a life-threatening human condition, are unknown. We previously reported that <italic>Pbx1</italic> deficiency causes organ growth defects including asplenia. Here, we show that mice with splenic mesenchyme-specific <italic>Pbx1</italic> inactivation exhibit hyposplenia. Moreover, the loss of Pbx causes down-regulation of <italic>Nkx2-5</italic> and derepression of <italic>p15Ink4b</italic> in spleen mesenchymal progenitors, perturbing the cell cycle. Removal of p15Ink4b in <italic>Pbx1</italic> spleen-specific mutants partially rescues spleen growth. By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in <italic>NKX2-5</italic> showing reduced transactivation <italic>in vitro</italic>. This study establishes that a Pbx/Nkx2-5/p15 regulatory module is essential for spleen development.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101120028</journal-id><journal-id journal-id-type="pubmed-jr-id">22411</journal-id><journal-id journal-id-type="nlm-ta">Dev Cell</journal-id><journal-id journal-id-type="iso-abbrev">Dev. Cell</journal-id><journal-title-group><journal-title>Developmental Cell</journal-title></journal-title-group><issn pub-type="ppub">1534-5807</issn><issn pub-type="epub">1878-1551</issn></journal-meta><article-meta><article-id pub-id-type="pmid">22560297</article-id><article-id pub-id-type="pmc">3356505</article-id><article-id pub-id-type="doi">10.1016/j.devcel.2012.02.009</article-id><article-id pub-id-type="manuscript">NIHMS361166</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Koss</surname><given-names>Matthew</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bolze</surname><given-names>Alexandre</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Brendolan</surname><given-names>Andrea</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Saggese</surname><given-names>Matilde</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Capellini</surname><given-names>Terence D.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="author-notes" rid="FN3">@</xref></contrib><contrib contrib-type="author"><name><surname>Bojilova</surname><given-names>Ekaterina</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Boisson</surname><given-names>Bertrand</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Prall</surname><given-names>Owen W.J.</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="author-notes" rid="FN2">^</xref></contrib><contrib contrib-type="author"><name><surname>Elliott</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="author-notes" rid="FN4">~</xref></contrib><contrib contrib-type="author"><name><surname>Solloway</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="author-notes" rid="FN5">&</xref></contrib><contrib contrib-type="author"><name><surname>Lenti</surname><given-names>Elisa</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hidaka</surname><given-names>Chisa</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Chang</surname><given-names>Ching-Pin</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Mahlaoui</surname><given-names>Nizar</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Harvey</surname><given-names>Richard P.</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A7">7</xref><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Selleri</surname><given-names>Licia</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="cor1">#</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Cell & Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA</aff><aff id="A2"><label>2</label>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</aff><aff id="A3"><label>3</label>Laboratory of Lymphoid Organ Development, Fondazione Centro San Raffaele Del Monte Tabor, Milan, Italy, EU</aff><aff id="A4"><label>4</label>The Victor Chang Cardiac Research Institute, Darlinghurst, Australia</aff><aff id="A5"><label>5</label>Laboratory for Soft Tissue Research, Hospital of Special Surgery, New York, NY 10021, USA</aff><aff id="A6"><label>6</label>Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA</aff><aff id="A7"><label>7</label>Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP, Paris 75015, France, EU</aff><aff id="A8"><label>8</label>Faculty of Medicine, University of New South Wales, Kensington, Australia</aff><aff id="A9"><label>9</label>University Paris Descartes, Paris 75015, France, EU</aff><aff id="A10"><label>10</label>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale, U980, Paris 75015, France, EU</aff><author-notes><corresp id="cor1"><label>#</label><bold>Corresponding author:</bold><email>lis2008@med.cornell.edu</email>, Phone: 1-212-746-5009; Fax: 1-212-746-5596</corresp><fn id="FN1" fn-type="equal"><label>*</label><p id="P1">These authors contributed equally to this work.</p></fn><fn id="FN2" fn-type="present-address"><label>^</label><p id="P2">Current Address: Walter and Eliza Hall Institute, Parkville, Australia.</p></fn><fn id="FN3" fn-type="present-address"><label>@</label><p id="P3">Current Address: Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.</p></fn><fn id="FN4" fn-type="present-address"><label>~</label><p id="P4">Current Address: Monash Institute for Stem Cells and Immunology, Monash University, Clayton 3800, Australia.</p></fn><fn id="FN5" fn-type="present-address"><label>&</label><p id="P5">Current Address: Department of Molecular Biology, Genentech, Inc., 1 DNA Way, South San Francisco, CA 94080, USA.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>6</day><month>3</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>03</day><month>5</month><year>2012</year></pub-date><pub-date pub-type="ppub"><day>15</day><month>5</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>5</month><year>2013</year></pub-date><volume>22</volume><issue>5</issue><fpage>913</fpage><lpage>926</lpage><permissions><copyright-statement>© 2012 Elsevier Inc. All rights reserved.</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><title>SUMMARY</title><p id="P6">The molecular determinants of spleen organogenesis and the etiology of isolated congenital asplenia (ICA), a life-threatening human condition, are unknown. We previously reported that <italic>Pbx1</italic> deficiency causes organ growth defects including asplenia. Here, we show that mice with splenic mesenchyme-specific <italic>Pbx1</italic> inactivation exhibit hyposplenia. Moreover, the loss of Pbx causes down-regulation of <italic>Nkx2-5</italic> and derepression of <italic>p15Ink4b</italic> in spleen mesenchymal progenitors, perturbing the cell cycle. Removal of p15Ink4b in <italic>Pbx1</italic> spleen-specific mutants partially rescues spleen growth. By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in <italic>NKX2-5</italic> showing reduced transactivation <italic>in vitro</italic>. This study establishes that a Pbx/Nkx2-5/p15 regulatory module is essential for spleen development.</p></abstract><kwd-group><kwd>Spleen</kwd><kwd>Organ growth</kwd><kwd>Human Isolated Congenital Asplenia</kwd><kwd>Cell cycle</kwd><kwd>Pbx</kwd><kwd>p15Ink4b</kwd><kwd>Nkx2-5</kwd></kwd-group></article-meta></front></pmc><affiliations><list><country><li>Australie</li><li>États-Unis</li></country><region><li>Californie</li><li>État de New York</li></region></list><tree><noCountry><name sortKey="Lenti, Elisa" sort="Lenti, Elisa" uniqKey="Lenti E" first="Elisa" last="Lenti">Elisa Lenti</name><name sortKey="Mahlaoui, Nizar" sort="Mahlaoui, Nizar" uniqKey="Mahlaoui N" first="Nizar" last="Mahlaoui">Nizar Mahlaoui</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Koss, Matthew" sort="Koss, Matthew" uniqKey="Koss M" first="Matthew" last="Koss">Matthew Koss</name></region><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><name sortKey="Bojilova, Ekaterina" sort="Bojilova, Ekaterina" uniqKey="Bojilova E" first="Ekaterina" last="Bojilova">Ekaterina Bojilova</name><name sortKey="Bolze, Alexandre" sort="Bolze, Alexandre" uniqKey="Bolze A" first="Alexandre" last="Bolze">Alexandre Bolze</name><name sortKey="Brendolan, Andrea" sort="Brendolan, Andrea" uniqKey="Brendolan A" first="Andrea" last="Brendolan">Andrea Brendolan</name><name sortKey="Capellini, Terence D" sort="Capellini, Terence D" uniqKey="Capellini T" first="Terence D." last="Capellini">Terence D. Capellini</name><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><name sortKey="Chang, Ching Pin" sort="Chang, Ching Pin" uniqKey="Chang C" first="Ching-Pin" last="Chang">Ching-Pin Chang</name><name sortKey="Hidaka, Chisa" sort="Hidaka, Chisa" uniqKey="Hidaka C" first="Chisa" last="Hidaka">Chisa Hidaka</name><name sortKey="Saggese, Matilde" sort="Saggese, Matilde" uniqKey="Saggese M" first="Matilde" last="Saggese">Matilde Saggese</name><name sortKey="Selleri, Licia" sort="Selleri, Licia" uniqKey="Selleri L" first="Licia" last="Selleri">Licia Selleri</name></country><country name="Australie"><noRegion><name sortKey="Prall, Owen W J" sort="Prall, Owen W J" uniqKey="Prall O" first="Owen W. J." last="Prall">Owen W. J. Prall</name></noRegion><name sortKey="Elliott, David" sort="Elliott, David" uniqKey="Elliott D" first="David" last="Elliott">David Elliott</name><name sortKey="Harvey, Richard P" sort="Harvey, Richard P" uniqKey="Harvey R" first="Richard P." last="Harvey">Richard P. Harvey</name><name sortKey="Harvey, Richard P" sort="Harvey, Richard P" uniqKey="Harvey R" first="Richard P." last="Harvey">Richard P. Harvey</name><name sortKey="Solloway, Mark" sort="Solloway, Mark" uniqKey="Solloway M" first="Mark" last="Solloway">Mark Solloway</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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