RTK mutations and human syndromeswhen good receptors turn bad.
Identifieur interne : 000337 ( Ncbi/Curation ); précédent : 000336; suivant : 000338RTK mutations and human syndromeswhen good receptors turn bad.
Auteurs : S C Robertson [États-Unis] ; J A Tynan ; D J DonoghueSource :
- Trends in genetics : TIG [ 0168-9525 ] ; 2000.
Descripteurs français
- KwdFr :
- Craniosynostoses (génétique), Humains, Lymphoedème (génétique), Mutation, Myélome multiple (génétique), Néoplasie endocrinienne multiple (génétique), Piébaldisme (génétique), Prédisposition génétique à une maladie, Récepteurs à activité tyrosine kinase (génétique), Récepteurs à activité tyrosine kinase (métabolisme), Syndrome, Transduction du signal.
- MESH :
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
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pubmed:10827454Le document en format XML
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C" last="Robertson">S C Robertson</name><affiliation wicri:level="2"><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><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Chemistry and Biochemistry, and Center for Molecular Genetics, University of California, San Diego, La Jolla, CA 92093-0367</wicri:regionArea><placeName><region type="state">Californie</region></placeName></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></analytic><series><title level="j">Trends in genetics : TIG</title><idno type="ISSN">0168-9525</idno><imprint><date when="2000" 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(génétique)</term><term>Récepteurs à activité tyrosine kinase (métabolisme)</term><term>Syndrome</term><term>Transduction du signal</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" qualifier="génétique" xml:lang="fr"><term>Craniosynostoses</term><term>Lymphoedème</term><term>Myélome multiple</term><term>Néoplasie endocrinienne multiple</term><term>Piébaldisme</term><term>Récepteurs à activité tyrosine kinase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Receptor Protein-Tyrosine Kinases</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Récepteurs à activité tyrosine kinase</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><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Mutation</term><term>Prédisposition génétique à une maladie</term><term>Syndrome</term><term>Transduction du signal</term></keywords></textClass></profileDesc></teiHeader><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></record>Pour manipuler ce document sous Unix (Dilib)
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