GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
Identifieur interne : 003623 ( Main/Exploration ); précédent : 003622; suivant : 003624GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
Auteurs : Amy P. Hsu [États-Unis] ; Kirby D. Johnson [États-Unis] ; E. Liana Falcone [États-Unis] ; Rajendran Sanalkumar [États-Unis] ; Lauren Sanchez [États-Unis] ; Dennis D. Hickstein [États-Unis] ; Jennifer Cuellar-Rodriguez [États-Unis] ; Jacob E. Lemieux [États-Unis] ; Christa S. Zerbe [États-Unis] ; Emery H. Bresnick [États-Unis] ; Steven M. Holland [États-Unis]Source :
- Blood [ 0006-4971 ] ; 2013.
Abstract
Mutations in a conserved intronic enhancer element lead to Mutations in
Url:
DOI: 10.1182/blood-2012-08-452763
PubMed: 23502222
PubMed Central: 3650705
Affiliations:
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Johnson</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison</wicri:cityArea></affiliation></author><author><name sortKey="Falcone, E Liana" sort="Falcone, E Liana" uniqKey="Falcone E" first="E. Liana" last="Falcone">E. Liana Falcone</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Sanalkumar, Rajendran" sort="Sanalkumar, Rajendran" uniqKey="Sanalkumar R" first="Rajendran" last="Sanalkumar">Rajendran Sanalkumar</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison</wicri:cityArea></affiliation></author><author><name sortKey="Sanchez, Lauren" sort="Sanchez, Lauren" uniqKey="Sanchez L" first="Lauren" last="Sanchez">Lauren Sanchez</name><affiliation wicri:level="2"><nlm:aff id="aff3">University of California–Los Angeles School of Medicine, Los Angeles, CA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>University of California–Los Angeles School of Medicine, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name><affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff4">Experimental Transplantation and Immunology Branch, National Cancer Institute, Bethesda, MD</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Experimental Transplantation and Immunology Branch, National Cancer Institute, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name><affiliation wicri:level="2"><nlm:aff id="aff5">Harvard–Massachusetts Institute of Technology, Division of Health Sciences and Technology, Harvard Medical School, Boston, MA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard–Massachusetts Institute of Technology, Division of Health Sciences and Technology, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Bresnick, Emery H" sort="Bresnick, Emery H" uniqKey="Bresnick E" first="Emery H." last="Bresnick">Emery H. Bresnick</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison</wicri:cityArea></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23502222</idno><idno type="pmc">3650705</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3650705</idno><idno type="RBID">PMC:3650705</idno><idno type="doi">10.1182/blood-2012-08-452763</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002C77</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002C77</idno><idno type="wicri:Area/Pmc/Curation">002C76</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002C76</idno><idno type="wicri:Area/Pmc/Checkpoint">002322</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002322</idno><idno type="wicri:Area/Ncbi/Merge">005709</idno><idno type="wicri:Area/Ncbi/Curation">005709</idno><idno type="wicri:Area/Ncbi/Checkpoint">005709</idno><idno type="wicri:doubleKey">0006-4971:2013:Hsu A:gata:haploinsufficiency:caused</idno><idno type="wicri:Area/Main/Merge">003630</idno><idno type="wicri:Area/Main/Curation">003623</idno><idno type="wicri:Area/Main/Exploration">003623</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome</title><author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Johnson, Kirby D" sort="Johnson, Kirby D" uniqKey="Johnson K" first="Kirby D." last="Johnson">Kirby D. Johnson</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison</wicri:cityArea></affiliation></author><author><name sortKey="Falcone, E Liana" sort="Falcone, E Liana" uniqKey="Falcone E" first="E. Liana" last="Falcone">E. Liana Falcone</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Sanalkumar, Rajendran" sort="Sanalkumar, Rajendran" uniqKey="Sanalkumar R" first="Rajendran" last="Sanalkumar">Rajendran Sanalkumar</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison</wicri:cityArea></affiliation></author><author><name sortKey="Sanchez, Lauren" sort="Sanchez, Lauren" uniqKey="Sanchez L" first="Lauren" last="Sanchez">Lauren Sanchez</name><affiliation wicri:level="2"><nlm:aff id="aff3">University of California–Los Angeles School of Medicine, Los Angeles, CA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>University of California–Los Angeles School of Medicine, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name><affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff4">Experimental Transplantation and Immunology Branch, National Cancer Institute, Bethesda, MD</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Experimental Transplantation and Immunology Branch, National Cancer Institute, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name><affiliation wicri:level="2"><nlm:aff id="aff5">Harvard–Massachusetts Institute of Technology, Division of Health Sciences and Technology, Harvard Medical School, Boston, MA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard–Massachusetts Institute of Technology, Division of Health Sciences and Technology, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Bresnick, Emery H" sort="Bresnick, Emery H" uniqKey="Bresnick E" first="Emery H." last="Bresnick">Emery H. Bresnick</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Department of Cell and Regenerative Biology, University of Wisconsin–Madison Blood Research Program, Wisconsin Institutes for Medical Research, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison</wicri:cityArea></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation wicri:level="2"><nlm:aff id="aff1">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author></analytic><series><title level="j">Blood</title><idno type="ISSN">0006-4971</idno><idno type="eISSN">1528-0020</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Mutations in a conserved intronic enhancer element lead to <italic>GATA2</italic> haploinsufficiency.</p></list-item><list-item><p>Mutations in <italic>GATA2</italic>, regardless of mutation type, lead to decreased <italic>GATA2</italic> transcript levels and a common global transcriptional profile.</p></list-item></list></p></div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Maryland</li><li>Massachusetts</li><li>Wisconsin</li></region></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name></region><name sortKey="Bresnick, Emery H" sort="Bresnick, Emery H" uniqKey="Bresnick E" first="Emery H." last="Bresnick">Emery H. Bresnick</name><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name><name sortKey="Falcone, E Liana" sort="Falcone, E Liana" uniqKey="Falcone E" first="E. Liana" last="Falcone">E. Liana Falcone</name><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><name sortKey="Johnson, Kirby D" sort="Johnson, Kirby D" uniqKey="Johnson K" first="Kirby D." last="Johnson">Kirby D. Johnson</name><name sortKey="Lemieux, Jacob E" sort="Lemieux, Jacob E" uniqKey="Lemieux J" first="Jacob E." last="Lemieux">Jacob E. Lemieux</name><name sortKey="Sanalkumar, Rajendran" sort="Sanalkumar, Rajendran" uniqKey="Sanalkumar R" first="Rajendran" last="Sanalkumar">Rajendran Sanalkumar</name><name sortKey="Sanchez, Lauren" sort="Sanchez, Lauren" uniqKey="Sanchez L" first="Lauren" last="Sanchez">Lauren Sanchez</name><name sortKey="Zerbe, Christa S" sort="Zerbe, Christa S" uniqKey="Zerbe C" first="Christa S." last="Zerbe">Christa S. Zerbe</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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