LymphedemaV1, PubMed, Corpus, bibRecord, 004A70

RTK mutations and human syndromeswhen good receptors turn bad.

Identifieur interne : 004A70 ( PubMed/Corpus ); précédent : 004A69; suivant : 004A71

RTK mutations and human syndromeswhen good receptors turn bad.

Auteurs : S C Robertson ; J A Tynan ; D J Donoghue

Source :

Trends in genetics : TIG [ 0168-9525 ] ; 2000.

RBID : pubmed:10827454

English descriptors

KwdEn :
- Craniosynostoses (genetics), Genetic Predisposition to Disease, Humans, Lymphedema (genetics), Multiple Endocrine Neoplasia (genetics), Multiple Myeloma (genetics), Mutation, Piebaldism (genetics), Receptor Protein-Tyrosine Kinases (genetics), Receptor Protein-Tyrosine Kinases (metabolism), Signal Transduction, Syndrome.
MESH :
- chemical , genetics : Receptor Protein-Tyrosine Kinases.
- genetics : Craniosynostoses, Lymphedema, Multiple Endocrine Neoplasia, Multiple Myeloma, Piebaldism.
- chemical , metabolism : Receptor Protein-Tyrosine Kinases.
- Genetic Predisposition to Disease, Humans, Mutation, Signal Transduction, Syndrome.

Abstract

Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in non-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.

PubMed: 10827454

Links to Exploration step

pubmed:10827454

Le document en format XML

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<author><name sortKey="Robertson, S C" sort="Robertson, S C" uniqKey="Robertson S" first="S C" last="Robertson">S C Robertson</name>
<affiliation><nlm:affiliation>Department of Chemistry and Biochemistry, and Center for Molecular Genetics, University of California, San Diego, La Jolla, CA 92093-0367, USA. scr@chem.ucsd.edu</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Tynan, J A" sort="Tynan, J A" uniqKey="Tynan J" first="J A" last="Tynan">J A Tynan</name>
</author>
<author><name sortKey="Donoghue, D J" sort="Donoghue, D J" uniqKey="Donoghue D" first="D J" last="Donoghue">D J Donoghue</name>
</author>
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<date when="2000">2000</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">RTK mutations and human syndromeswhen good receptors turn bad.</title>
<author><name sortKey="Robertson, S C" sort="Robertson, S C" uniqKey="Robertson S" first="S C" last="Robertson">S C Robertson</name>
<affiliation><nlm:affiliation>Department of Chemistry and Biochemistry, and Center for Molecular Genetics, University of California, San Diego, La Jolla, CA 92093-0367, USA. scr@chem.ucsd.edu</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Tynan, J A" sort="Tynan, J A" uniqKey="Tynan J" first="J A" last="Tynan">J A Tynan</name>
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<author><name sortKey="Donoghue, D J" sort="Donoghue, D J" uniqKey="Donoghue D" first="D J" last="Donoghue">D J Donoghue</name>
</author>
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<series><title level="j">Trends in genetics : TIG</title>
<idno type="ISSN">0168-9525</idno>
<imprint><date when="2000" type="published">2000</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Craniosynostoses (genetics)</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Lymphedema (genetics)</term>
<term>Multiple Endocrine Neoplasia (genetics)</term>
<term>Multiple Myeloma (genetics)</term>
<term>Mutation</term>
<term>Piebaldism (genetics)</term>
<term>Receptor Protein-Tyrosine Kinases (genetics)</term>
<term>Receptor Protein-Tyrosine Kinases (metabolism)</term>
<term>Signal Transduction</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor Protein-Tyrosine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Craniosynostoses</term>
<term>Lymphedema</term>
<term>Multiple Endocrine Neoplasia</term>
<term>Multiple Myeloma</term>
<term>Piebaldism</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Receptor Protein-Tyrosine Kinases</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Mutation</term>
<term>Signal Transduction</term>
<term>Syndrome</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in non-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">10827454</PMID>
<DateCreated><Year>2000</Year>
<Month>07</Month>
<Day>19</Day>
</DateCreated>
<DateCompleted><Year>2000</Year>
<Month>07</Month>
<Day>19</Day>
</DateCompleted>
<DateRevised><Year>2009</Year>
<Month>11</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0168-9525</ISSN>
<JournalIssue CitedMedium="Print"><Volume>16</Volume>
<Issue>6</Issue>
<PubDate><Year>2000</Year>
<Month>Jun</Month>
</PubDate>
</JournalIssue>
<Title>Trends in genetics : TIG</Title>
<ISOAbbreviation>Trends Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>RTK mutations and human syndromeswhen good receptors turn bad.</ArticleTitle>
<Pagination><MedlinePgn>265-71</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in non-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Robertson</LastName>
<ForeName>S C</ForeName>
<Initials>SC</Initials>
<AffiliationInfo><Affiliation>Department of Chemistry and Biochemistry, and Center for Molecular Genetics, University of California, San Diego, La Jolla, CA 92093-0367, USA. scr@chem.ucsd.edu</Affiliation>
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<Author ValidYN="Y"><LastName>Tynan</LastName>
<ForeName>J A</ForeName>
<Initials>JA</Initials>
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<Author ValidYN="Y"><LastName>Donoghue</LastName>
<ForeName>D J</ForeName>
<Initials>DJ</Initials>
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<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>R01 DE12581</GrantID>
<Acronym>DE</Acronym>
<Agency>NIDCR NIH HHS</Agency>
<Country>United States</Country>
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<MedlineJournalInfo><Country>England</Country>
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<ChemicalList><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber>
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<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>Trends Genet 2000 Aug;16(8):368</RefSource>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName UI="D003398" MajorTopicYN="N">Craniosynostoses</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009377" MajorTopicYN="N">Multiple Endocrine Neoplasia</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009101" MajorTopicYN="N">Multiple Myeloma</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016116" MajorTopicYN="N">Piebaldism</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020794" MajorTopicYN="N">Receptor Protein-Tyrosine Kinases</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015398" MajorTopicYN="N">Signal Transduction</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<NumberOfReferences>70</NumberOfReferences>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2000</Year>
<Month>5</Month>
<Day>29</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2000</Year>
<Month>7</Month>
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<Hour>11</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="entrez"><Year>2000</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">10827454</ArticleId>
<ArticleId IdType="pii">S0168-9525(00)02021-7</ArticleId>
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RTK mutations and human syndromeswhen good receptors turn bad.

RTK mutations and human syndromeswhen good receptors turn bad.

Source :

English descriptors

Abstract

Links to Exploration step

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