Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Identifieur interne : 004641 ( Ncbi/Merge ); précédent : 004640; suivant : 004642Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Auteurs : Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson ; Fiona C. Connell ; Colin G. Steward ; Glen Brice ; Wesley J. Woollard ; Dimitra Dafou ; Tatjana Kilo ; Sarah Smithson ; Peter Lunt ; Victoria A. Murday ; Shirley Hodgson ; Russell Keenan ; Daniela T. Pilz ; Ines Martinez-Corral ; Taija Makinen ; Peter S. Mortimer ; Steve Jeffery ; Richard C. Trembath ; Sahar MansourSource :
- Nature genetics [ 1546-1718 ] ; 2011.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Allèles, Cellules souches hématopoïétiques (métabolisme), Enfant, Facteur de transcription GATA-2 (génétique), Facteur de transcription GATA-2 (métabolisme), Femelle, Génotype, Haploinsuffisance, Humains, Leucémie aigüe myéloïde (génétique), Lymphoedème (), Lymphoedème (génétique), Mutation, Mâle, Nouveau-né, Phénotype, Prédisposition génétique à une maladie, Régulation de l'expression des gènes tumoraux, Syndrome.
- MESH :
- génétique : Facteur de transcription GATA-2, Leucémie aigüe myéloïde, Lymphoedème.
- métabolisme : Cellules souches hématopoïétiques, Facteur de transcription GATA-2.
- Adolescent, Adulte, Adulte d'âge moyen, Allèles, Enfant, Femelle, Génotype, Haploinsuffisance, Humains, Lymphoedème, Mutation, Mâle, Nouveau-né, Phénotype, Prédisposition génétique à une maladie, Régulation de l'expression des gènes tumoraux, Syndrome.
English descriptors
- KwdEn :
- Adolescent, Adult, Alleles, Child, Female, GATA2 Transcription Factor (genetics), GATA2 Transcription Factor (metabolism), Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genotype, Haploinsufficiency, Hematopoietic Stem Cells (metabolism), Humans, Infant, Newborn, Leukemia, Myeloid, Acute (genetics), Lymphedema (congenital), Lymphedema (genetics), Male, Middle Aged, Mutation, Phenotype, Syndrome.
- MESH :
- chemical , genetics : GATA2 Transcription Factor.
- chemical , metabolism : GATA2 Transcription Factor.
- congenital : Lymphedema.
- genetics : Leukemia, Myeloid, Acute, Lymphedema.
- metabolism : Hematopoietic Stem Cells.
- Adolescent, Adult, Alleles, Child, Female, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genotype, Haploinsufficiency, Humans, Infant, Newborn, Male, Middle Aged, Mutation, Phenotype, Syndrome.
Abstract
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.
DOI: 10.1038/ng.923
PubMed: 21892158
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 002471
- to stream PubMed, to step Curation: 002471
- to stream PubMed, to step Checkpoint: 002471
Links to Exploration step
pubmed:21892158Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).</title><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:affiliation>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A" last="Simpson">Michael A. Simpson</name></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name></author><author><name sortKey="Steward, Colin G" sort="Steward, Colin G" uniqKey="Steward C" first="Colin G" last="Steward">Colin G. Steward</name></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name></author><author><name sortKey="Woollard, Wesley J" sort="Woollard, Wesley J" uniqKey="Woollard W" first="Wesley J" last="Woollard">Wesley J. Woollard</name></author><author><name sortKey="Dafou, Dimitra" sort="Dafou, Dimitra" uniqKey="Dafou D" first="Dimitra" last="Dafou">Dimitra Dafou</name></author><author><name sortKey="Kilo, Tatjana" sort="Kilo, Tatjana" uniqKey="Kilo T" first="Tatjana" last="Kilo">Tatjana Kilo</name></author><author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name></author><author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name></author><author><name sortKey="Murday, Victoria A" sort="Murday, Victoria A" uniqKey="Murday V" first="Victoria A" last="Murday">Victoria A. Murday</name></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name></author><author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name></author><author><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T" last="Pilz">Daniela T. Pilz</name></author><author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name></author><author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author><author><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C" last="Trembath">Richard C. Trembath</name></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="RBID">pubmed:21892158</idno><idno type="pmid">21892158</idno><idno type="doi">10.1038/ng.923</idno><idno type="wicri:Area/PubMed/Corpus">002471</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002471</idno><idno type="wicri:Area/PubMed/Curation">002471</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002471</idno><idno type="wicri:Area/PubMed/Checkpoint">002471</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002471</idno><idno type="wicri:Area/Ncbi/Merge">004641</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).</title><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:affiliation>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A" last="Simpson">Michael A. Simpson</name></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name></author><author><name sortKey="Steward, Colin G" sort="Steward, Colin G" uniqKey="Steward C" first="Colin G" last="Steward">Colin G. Steward</name></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name></author><author><name sortKey="Woollard, Wesley J" sort="Woollard, Wesley J" uniqKey="Woollard W" first="Wesley J" last="Woollard">Wesley J. Woollard</name></author><author><name sortKey="Dafou, Dimitra" sort="Dafou, Dimitra" uniqKey="Dafou D" first="Dimitra" last="Dafou">Dimitra Dafou</name></author><author><name sortKey="Kilo, Tatjana" sort="Kilo, Tatjana" uniqKey="Kilo T" first="Tatjana" last="Kilo">Tatjana Kilo</name></author><author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name></author><author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name></author><author><name sortKey="Murday, Victoria A" sort="Murday, Victoria A" uniqKey="Murday V" first="Victoria A" last="Murday">Victoria A. Murday</name></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name></author><author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name></author><author><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T" last="Pilz">Daniela T. Pilz</name></author><author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name></author><author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author><author><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C" last="Trembath">Richard C. Trembath</name></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Child</term><term>Female</term><term>GATA2 Transcription Factor (genetics)</term><term>GATA2 Transcription Factor (metabolism)</term><term>Gene Expression Regulation, Neoplastic</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Haploinsufficiency</term><term>Hematopoietic Stem Cells (metabolism)</term><term>Humans</term><term>Infant, Newborn</term><term>Leukemia, Myeloid, Acute (genetics)</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Phenotype</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Allèles</term><term>Cellules souches hématopoïétiques (métabolisme)</term><term>Enfant</term><term>Facteur de transcription GATA-2 (génétique)</term><term>Facteur de transcription GATA-2 (métabolisme)</term><term>Femelle</term><term>Génotype</term><term>Haploinsuffisance</term><term>Humains</term><term>Leucémie aigüe myéloïde (génétique)</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Phénotype</term><term>Prédisposition génétique à une maladie</term><term>Régulation de l'expression des gènes tumoraux</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Leukemia, Myeloid, Acute</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de transcription GATA-2</term><term>Leucémie aigüe myéloïde</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Hematopoietic Stem Cells</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Cellules souches hématopoïétiques</term><term>Facteur de transcription GATA-2</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Child</term><term>Female</term><term>Gene Expression Regulation, Neoplastic</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Haploinsufficiency</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Phenotype</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Allèles</term><term>Enfant</term><term>Femelle</term><term>Génotype</term><term>Haploinsuffisance</term><term>Humains</term><term>Lymphoedème</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Phénotype</term><term>Prédisposition génétique à une maladie</term><term>Régulation de l'expression des gènes tumoraux</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21892158</PMID><DateCreated><Year>2011</Year><Month>09</Month><Day>29</Day></DateCreated><DateCompleted><Year>2011</Year><Month>11</Month><Day>21</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1546-1718</ISSN><JournalIssue CitedMedium="Internet"><Volume>43</Volume><Issue>10</Issue><PubDate><Year>2011</Year><Month>Sep</Month><Day>04</Day></PubDate></JournalIssue><Title>Nature genetics</Title><ISOAbbreviation>Nat. Genet.</ISOAbbreviation></Journal><ArticleTitle>Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).</ArticleTitle><Pagination><MedlinePgn>929-31</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ng.923</ELocationID><Abstract><AbstractText>We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>Pia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simpson</LastName><ForeName>Michael A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Connell</LastName><ForeName>Fiona C</ForeName><Initials>FC</Initials></Author><Author ValidYN="Y"><LastName>Steward</LastName><ForeName>Colin G</ForeName><Initials>CG</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Glen</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Woollard</LastName><ForeName>Wesley J</ForeName><Initials>WJ</Initials></Author><Author ValidYN="Y"><LastName>Dafou</LastName><ForeName>Dimitra</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Kilo</LastName><ForeName>Tatjana</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Smithson</LastName><ForeName>Sarah</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Lunt</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Murday</LastName><ForeName>Victoria A</ForeName><Initials>VA</Initials></Author><Author ValidYN="Y"><LastName>Hodgson</LastName><ForeName>Shirley</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Keenan</LastName><ForeName>Russell</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Pilz</LastName><ForeName>Daniela T</ForeName><Initials>DT</Initials></Author><Author ValidYN="Y"><LastName>Martinez-Corral</LastName><ForeName>Ines</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Makinen</LastName><ForeName>Taija</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter S</ForeName><Initials>PS</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Trembath</LastName><ForeName>Richard C</ForeName><Initials>RC</Initials></Author><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>Sahar</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><DataBankList CompleteYN="Y"><DataBank><DataBankName>RefSeq</DataBankName><AccessionNumberList><AccessionNumber>NM_032638</AccessionNumber></AccessionNumberList></DataBank></DataBankList><GrantList CompleteYN="Y"><Grant><GrantID>FS/06/063/21445</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>RG/08/006/25302</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Department of Health</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>09</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Nat Genet</MedlineTA><NlmUniqueID>9216904</NlmUniqueID><ISSNLinking>1061-4036</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050989">GATA2 Transcription Factor</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C494711">GATA2 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Nat Genet. 2011 Oct;43(10):926-7</RefSource><PMID Version="1">21956389</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2076-81</RefSource><PMID Version="1">18250304</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2004 Dec 2;351(23):2403-7</RefSource><PMID Version="1">15575056</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2008 Dec 15;112(13):4862-73</RefSource><PMID Version="1">18840712</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 1999 Oct;23(2):166-75</RefSource><PMID Version="1">10508512</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genes Cancer. 2010 Dec;1(12):1178-88</RefSource><PMID Version="1">21779441</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2010 Sep;152A(9):2287-96</RefSource><PMID Version="1">20803646</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 1994 Sep 15;371(6494):221-6</RefSource><PMID Version="1">8078582</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Cell Biol. 2005 Jan;25(2):706-15</RefSource><PMID Version="1">15632071</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2011 Sep 8;118(10):2656-8</RefSource><PMID Version="1">21765025</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dev Dyn. 2010 Sep;239(9):2452-69</RefSource><PMID Version="1">20652952</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2000 Oct 15;96(8):2862-9</RefSource><PMID Version="1">11023523</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2011 Sep 8;118(10):2653-5</RefSource><PMID Version="1">21670465</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2009 Jun;149A(6):1323-6</RefSource><PMID Version="1">19449416</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2001 Mar;27(3):263-70</RefSource><PMID Version="1">11242107</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Development. 2007 May;134(9):1703-12</RefSource><PMID Version="1">17395646</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D050989" MajorTopicYN="N">GATA2 Transcription Factor</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015972" MajorTopicYN="N">Gene Expression Regulation, Neoplastic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D057895" MajorTopicYN="N">Haploinsufficiency</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006412" MajorTopicYN="N">Hematopoietic Stem Cells</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015470" MajorTopicYN="N">Leukemia, Myeloid, Acute</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>05</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>08</Month><Day>05</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>9</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>9</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>12</Month><Day>13</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">21892158</ArticleId><ArticleId IdType="pii">ng.923</ArticleId><ArticleId IdType="doi">10.1038/ng.923</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><noCountry><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name><name sortKey="Dafou, Dimitra" sort="Dafou, Dimitra" uniqKey="Dafou D" first="Dimitra" last="Dafou">Dimitra Dafou</name><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name><name sortKey="Kilo, Tatjana" sort="Kilo, Tatjana" uniqKey="Kilo T" first="Tatjana" last="Kilo">Tatjana Kilo</name><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name><name sortKey="Murday, Victoria A" sort="Murday, Victoria A" uniqKey="Murday V" first="Victoria A" last="Murday">Victoria A. Murday</name><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T" last="Pilz">Daniela T. Pilz</name><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A" last="Simpson">Michael A. Simpson</name><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name><name sortKey="Steward, Colin G" sort="Steward, Colin G" uniqKey="Steward C" first="Colin G" last="Steward">Colin G. Steward</name><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C" last="Trembath">Richard C. Trembath</name><name sortKey="Woollard, Wesley J" sort="Woollard, Wesley J" uniqKey="Woollard W" first="Wesley J" last="Woollard">Wesley J. Woollard</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004641 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 004641 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Ncbi
|étape= Merge
|type= RBID
|clé= pubmed:21892158
|texte= Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:21892158" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |