Cardiomyopathies in Noonan syndrome and the other RASopathies
Identifieur interne : 003922 ( Pmc/Curation ); précédent : 003921; suivant : 003923Cardiomyopathies in Noonan syndrome and the other RASopathies
Auteurs : Bruce D. Gelb [États-Unis] ; Amy E. Roberts [États-Unis] ; Marco Tartaglia [Italie]Source :
- Progress in pediatric cardiology [ 1058-9813 ] ; 2015.
Abstract
Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene,
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DOI: 10.1016/j.ppedcard.2015.01.002
PubMed: 26380542
PubMed Central: 4568836
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Roberts</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston, MA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation wicri:level="1"><nlm:aff id="A3">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26380542</idno><idno type="pmc">4568836</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568836</idno><idno type="RBID">PMC:4568836</idno><idno type="doi">10.1016/j.ppedcard.2015.01.002</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">003923</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003923</idno><idno type="wicri:Area/Pmc/Curation">003922</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003922</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Cardiomyopathies in Noonan syndrome and the other RASopathies</title><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><affiliation wicri:level="2"><nlm:aff id="A1">Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York</wicri:cityArea></affiliation></author><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston, MA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation wicri:level="1"><nlm:aff id="A3">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea></affiliation></author></analytic><series><title level="j">Progress in pediatric cardiology</title><idno type="ISSN">1058-9813</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, <italic>RAF1</italic>, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies.</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">9209539</journal-id><journal-id journal-id-type="pubmed-jr-id">21520</journal-id><journal-id journal-id-type="nlm-ta">Prog Pediatr Cardiol</journal-id><journal-id journal-id-type="iso-abbrev">Prog. Pediatr. Cardiol.</journal-id><journal-title-group><journal-title>Progress in pediatric cardiology</journal-title></journal-title-group><issn pub-type="ppub">1058-9813</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26380542</article-id><article-id pub-id-type="pmc">4568836</article-id><article-id pub-id-type="doi">10.1016/j.ppedcard.2015.01.002</article-id><article-id pub-id-type="manuscript">NIHMS669446</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Cardiomyopathies in Noonan syndrome and the other RASopathies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Gelb</surname><given-names>Bruce D.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Roberts</surname><given-names>Amy E.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Tartaglia</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib></contrib-group><aff id="A1"><label>1</label>Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY</aff><aff id="A2"><label>2</label>Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston, MA</aff><aff id="A3"><label>3</label>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy</aff><author-notes><corresp id="FN1">Correspondence: Bruce D. Gelb, One Gustave Levy Place, Box 1040, New York, NY 10029, Tel: 212-824-8938, Fax: 212-241-3310</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>8</day><month>3</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>31</day><month>1</month><year>2015</year></pub-date><pub-date pub-type="ppub"><day>1</day><month>7</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2016</year></pub-date><volume>39</volume><issue>1</issue><fpage>13</fpage><lpage>19</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.ppedcard.2015.01.002</pmc-comment>
<abstract><p id="P2">Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, <italic>RAF1</italic>, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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