Erythro-megakaryocytic transcription factors associated with hereditary anemia
Identifieur interne : 004769 ( Pmc/Curation ); précédent : 004768; suivant : 004770Erythro-megakaryocytic transcription factors associated with hereditary anemia
Auteurs : John D. Crispino [États-Unis] ; Mitchell J. Weiss [États-Unis]Source :
- Blood [ 0006-4971 ] ; 2014.
Abstract
Most heritable anemias are caused by mutations in genes encoding globins, red blood cell (RBC) membrane proteins, or enzymes in the glycolytic and hexose monophosphate shunt pathways. A less common class of genetic anemia is caused by mutations that alter the functions of erythroid transcription factors (TFs). Many TF mutations associated with heritable anemia cause truncations or amino acid substitutions, resulting in the production of functionally altered proteins. Characterization of these mutant proteins has provided insights into mechanisms of gene expression, hematopoietic development, and human disease. Mutations within promoter or enhancer regions that disrupt TF binding to essential erythroid genes also cause anemia and heritable variations in RBC traits, such as fetal hemoglobin content. Defining the latter may have important clinical implications for de-repressing fetal hemoglobin synthesis to treat sickle cell anemia and β thalassemia. Functionally important alterations in genes encoding TFs or their cognate
Url:
DOI: 10.1182/blood-2014-01-453167
PubMed: 24652993
PubMed Central: 4023417
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :004770
Links to Exploration step
PMC:4023417Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Erythro-megakaryocytic transcription factors associated with hereditary anemia</title>
<author><name sortKey="Crispino, John D" sort="Crispino, John D" uniqKey="Crispino J" first="John D." last="Crispino">John D. Crispino</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff1">Division of Hematology/Oncology, Northwestern University, Chicago, IL</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Division of Hematology/Oncology, Northwestern University, Chicago</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Weiss, Mitchell J" sort="Weiss, Mitchell J" uniqKey="Weiss M" first="Mitchell J." last="Weiss">Mitchell J. Weiss</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Children’s Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Children’s Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24652993</idno>
<idno type="pmc">4023417</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023417</idno>
<idno type="RBID">PMC:4023417</idno>
<idno type="doi">10.1182/blood-2014-01-453167</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">004770</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004770</idno>
<idno type="wicri:Area/Pmc/Curation">004769</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">004769</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Erythro-megakaryocytic transcription factors associated with hereditary anemia</title>
<author><name sortKey="Crispino, John D" sort="Crispino, John D" uniqKey="Crispino J" first="John D." last="Crispino">John D. Crispino</name>
<affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff1">Division of Hematology/Oncology, Northwestern University, Chicago, IL</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Division of Hematology/Oncology, Northwestern University, Chicago</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Weiss, Mitchell J" sort="Weiss, Mitchell J" uniqKey="Weiss M" first="Mitchell J." last="Weiss">Mitchell J. Weiss</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Children’s Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Children’s Hospital of Philadelphia, Philadelphia</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="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Most heritable anemias are caused by mutations in genes encoding globins, red blood cell (RBC) membrane proteins, or enzymes in the glycolytic and hexose monophosphate shunt pathways. A less common class of genetic anemia is caused by mutations that alter the functions of erythroid transcription factors (TFs). Many TF mutations associated with heritable anemia cause truncations or amino acid substitutions, resulting in the production of functionally altered proteins. Characterization of these mutant proteins has provided insights into mechanisms of gene expression, hematopoietic development, and human disease. Mutations within promoter or enhancer regions that disrupt TF binding to essential erythroid genes also cause anemia and heritable variations in RBC traits, such as fetal hemoglobin content. Defining the latter may have important clinical implications for de-repressing fetal hemoglobin synthesis to treat sickle cell anemia and β thalassemia. Functionally important alterations in genes encoding TFs or their cognate <italic>cis</italic>
elements are likely to occur more frequently than currently appreciated, a hypothesis that will soon be tested through ongoing genome-wide association studies and the rapidly expanding use of global genome sequencing for human diagnostics. Findings obtained through such studies of RBCs and associated diseases are likely generalizable to many human diseases and quantitative traits.</p>
</div>
</front>
</TEI>
<pmc article-type="review-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id>
<journal-id journal-id-type="iso-abbrev">Blood</journal-id>
<journal-id journal-id-type="hwp">bloodjournal</journal-id>
<journal-id journal-id-type="pmc">blood</journal-id>
<journal-id journal-id-type="publisher-id">Blood</journal-id>
<journal-title-group><journal-title>Blood</journal-title>
</journal-title-group>
<issn pub-type="ppub">0006-4971</issn>
<issn pub-type="epub">1528-0020</issn>
<publisher><publisher-name>American Society of Hematology</publisher-name>
<publisher-loc>Washington, DC</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24652993</article-id>
<article-id pub-id-type="pmc">4023417</article-id>
<article-id pub-id-type="publisher-id">2014/453167</article-id>
<article-id pub-id-type="doi">10.1182/blood-2014-01-453167</article-id>
<article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>5</subject>
<subject>36</subject>
<subject>100</subject>
</subj-group>
<subj-group subj-group-type="heading"><subject>Review Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Erythro-megakaryocytic transcription factors associated with hereditary anemia</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Crispino</surname>
<given-names>John D.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Weiss</surname>
<given-names>Mitchell J.</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<aff id="aff1"><label>1</label>
Division of Hematology/Oncology, Northwestern University, Chicago, IL; and</aff>
<aff id="aff2"><label>2</label>
Children’s Hospital of Philadelphia, Philadelphia, PA</aff>
</contrib-group>
<pub-date pub-type="ppub"><day>15</day>
<month>5</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epreprint"><day>20</day>
<month>3</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>15</day>
<month>5</month>
<year>2015</year>
</pub-date>
<pmc-comment> PMC Release delay is 12 months and
0 days and was based on the . </pmc-comment>
<volume>123</volume>
<issue>20</issue>
<fpage>3080</fpage>
<lpage>3088</lpage>
<history><date date-type="received"><day>07</day>
<month>1</month>
<year>2014</year>
</date>
<date date-type="accepted"><day>10</day>
<month>3</month>
<year>2014</year>
</date>
</history>
<permissions><copyright-statement>© 2014 by The American Society of Hematology</copyright-statement>
<copyright-year>2014</copyright-year>
</permissions>
<self-uri xlink:title="pdf" xlink:type="simple" xlink:href="3080.pdf"></self-uri>
<abstract><p>Most heritable anemias are caused by mutations in genes encoding globins, red blood cell (RBC) membrane proteins, or enzymes in the glycolytic and hexose monophosphate shunt pathways. A less common class of genetic anemia is caused by mutations that alter the functions of erythroid transcription factors (TFs). Many TF mutations associated with heritable anemia cause truncations or amino acid substitutions, resulting in the production of functionally altered proteins. Characterization of these mutant proteins has provided insights into mechanisms of gene expression, hematopoietic development, and human disease. Mutations within promoter or enhancer regions that disrupt TF binding to essential erythroid genes also cause anemia and heritable variations in RBC traits, such as fetal hemoglobin content. Defining the latter may have important clinical implications for de-repressing fetal hemoglobin synthesis to treat sickle cell anemia and β thalassemia. Functionally important alterations in genes encoding TFs or their cognate <italic>cis</italic>
elements are likely to occur more frequently than currently appreciated, a hypothesis that will soon be tested through ongoing genome-wide association studies and the rapidly expanding use of global genome sequencing for human diagnostics. Findings obtained through such studies of RBCs and associated diseases are likely generalizable to many human diseases and quantitative traits.</p>
</abstract>
<funding-group><award-group><funding-source id="CS100">National Institutes of Health</funding-source>
</award-group>
</funding-group>
<counts><page-count count="9"></page-count>
</counts>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004769 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd -nk 004769 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Curation |type= RBID |clé= PMC:4023417 |texte= Erythro-megakaryocytic transcription factors associated with hereditary anemia }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Curation/RBID.i -Sk "pubmed:24652993" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |