LymphedemaV1, Main, Exploration, bibRecord, 004C88

Noonan syndrome and clinically related disorders

Identifieur interne : 004C88 ( Main/Exploration ); précédent : 004C87; suivant : 004C89

Noonan syndrome and clinically related disorders

Auteurs : Marco Tartaglia [Italie] ; Bruce D. Gelb ; Martin Zenker [Allemagne]

Source :

Best practice & research. Clinical endocrinology & metabolism [ 1521-690X ] ; 2011.

RBID : PMC:3058199

Abstract

Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058199

DOI: 10.1016/j.beem.2010.09.002
PubMed: 21396583
PubMed Central: 3058199

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Noonan syndrome and clinically related disorders</title>
<author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Italie</country>
<wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name>
<affiliation><nlm:aff id="A2">Child Health and Development Institute, Mount Sinai School of Medicine, New York, NY.</nlm:aff>
<wicri:noCountry code="subfield">NY.</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
<affiliation wicri:level="3"><nlm:aff id="A3">Institute of Human Genetics, University Hospital, Magdeburg, Germany.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University Hospital, Magdeburg</wicri:regionArea>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">21396583</idno>
<idno type="pmc">3058199</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058199</idno>
<idno type="RBID">PMC:3058199</idno>
<idno type="doi">10.1016/j.beem.2010.09.002</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">002801</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002801</idno>
<idno type="wicri:Area/Pmc/Curation">002800</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002800</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002E34</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002E34</idno>
<idno type="wicri:Area/Ncbi/Merge">004195</idno>
<idno type="wicri:Area/Ncbi/Curation">004195</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">004195</idno>
<idno type="wicri:doubleKey">1521-690X:2011:Tartaglia M:noonan:syndrome:and</idno>
<idno type="wicri:Area/Main/Merge">004D22</idno>
<idno type="wicri:Area/Main/Curation">004C88</idno>
<idno type="wicri:Area/Main/Exploration">004C88</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Noonan syndrome and clinically related disorders</title>
<author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Italie</country>
<wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name>
<affiliation><nlm:aff id="A2">Child Health and Development Institute, Mount Sinai School of Medicine, New York, NY.</nlm:aff>
<wicri:noCountry code="subfield">NY.</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
<affiliation wicri:level="3"><nlm:aff id="A3">Institute of Human Genetics, University Hospital, Magdeburg, Germany.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University Hospital, Magdeburg</wicri:regionArea>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Best practice & research. Clinical endocrinology & metabolism</title>
<idno type="ISSN">1521-690X</idno>
<idno type="eISSN">1532-1908</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P3">Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (<underline>PTPN11</underline>
, <underline>SOS1</underline>
, <underline>KRAS</underline>
, <underline>NRAS</underline>
, <underline>RAF1</underline>
, <underline>BRAF</underline>
, <underline>SHOC2</underline>
, <underline>MEK1</underline>
 and <underline>CBL</underline>
) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Italie</li>
</country>
<region><li>Latium</li>
<li>Saxe-Anhalt</li>
</region>
<settlement><li>Magdebourg</li>
<li>Rome</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name>
</noCountry>
<country name="Italie"><region name="Latium"><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name>
</region>
</country>
<country name="Allemagne"><region name="Saxe-Anhalt"><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004C88 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004C88 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3058199
   |texte=   Noonan syndrome and clinically related disorders
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:21396583" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Noonan syndrome and clinically related disorders

Noonan syndrome and clinically related disorders

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.