A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.
Identifieur interne : 002248 ( Main/Exploration ); précédent : 002247; suivant : 002249A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.
Auteurs : Svetlana Melikhan-Revzin [Israël] ; Alina Kurolap [Israël] ; Efrat Dagan [Israël] ; Adi Mory [Israël] ; Ruth Gershoni-Baruch [Israël]Source :
- Lymphatic research and biology [ 1557-8585 ] ; 2015.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Femelle, Gènes récessifs, Humains, Locus génétiques, Lymphoedème (diagnostic), Lymphoedème (génétique), Mutation faux-sens, Mâle, Nourrisson, Nouveau-né, Ordre des gènes, Pedigree, Phénotype, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Épissage des ARN, Études d'associations génétiques.
- MESH :
- diagnostic : Lymphoedème.
- génétique : Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Analyse de mutations d'ADN, Femelle, Gènes récessifs, Humains, Locus génétiques, Mutation faux-sens, Mâle, Nourrisson, Nouveau-né, Ordre des gènes, Pedigree, Phénotype, Épissage des ARN, Études d'associations génétiques.
English descriptors
- KwdEn :
- DNA Mutational Analysis, Female, Gene Order, Genes, Recessive, Genetic Association Studies, Genetic Loci, Humans, Infant, Infant, Newborn, Lymphedema (diagnosis), Lymphedema (genetics), Male, Mutation, Missense, Pedigree, Phenotype, RNA Splicing, Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- diagnosis : Lymphedema.
- genetics : Lymphedema.
- DNA Mutational Analysis, Female, Gene Order, Genes, Recessive, Genetic Association Studies, Genetic Loci, Humans, Infant, Infant, Newborn, Male, Mutation, Missense, Pedigree, Phenotype, RNA Splicing.
Abstract
Primary lymphedema covers around 10% of all lymphedema cases. Most cases segregate as an autosomal dominant trait and rarely manifest autosomal recessive inheritance. Our research aimed to map and ultimately to hunt the mutation that causes hereditary lymphedema in an extended consanguineous Muslim family consisting of several affected individuals.
DOI: 10.1089/lrb.2014.0044
PubMed: 26091405
Affiliations:
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Le document en format XML
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Melikhan-Revzin</name><affiliation wicri:level="1"><nlm:affiliation>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa, Israel .</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa</wicri:regionArea><wicri:noRegion>Haifa</wicri:noRegion></affiliation></author><author><name sortKey="Kurolap, Alina" sort="Kurolap, Alina" uniqKey="Kurolap A" first="Alina" last="Kurolap">Alina Kurolap</name><affiliation wicri:level="1"><nlm:affiliation>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa, Israel .</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa</wicri:regionArea><wicri:noRegion>Haifa</wicri:noRegion></affiliation></author><author><name sortKey="Dagan, Efrat" sort="Dagan, Efrat" uniqKey="Dagan E" first="Efrat" last="Dagan">Efrat Dagan</name><affiliation wicri:level="1"><nlm:affiliation>3 Department of Nursing, Faculty of Social Welfare and Health Sciences, University of Haifa , Haifa, Israel .</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>3 Department of Nursing, Faculty of Social Welfare and Health Sciences, University of Haifa , Haifa</wicri:regionArea><wicri:noRegion>Haifa</wicri:noRegion></affiliation></author><author><name sortKey="Mory, Adi" sort="Mory, Adi" uniqKey="Mory A" first="Adi" last="Mory">Adi Mory</name><affiliation wicri:level="1"><nlm:affiliation>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa, Israel .</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa</wicri:regionArea><wicri:noRegion>Haifa</wicri:noRegion></affiliation></author><author><name sortKey="Gershoni Baruch, Ruth" sort="Gershoni Baruch, Ruth" uniqKey="Gershoni Baruch R" first="Ruth" last="Gershoni-Baruch">Ruth Gershoni-Baruch</name><affiliation wicri:level="1"><nlm:affiliation>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa, Israel .</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>1 Institute of Human Genetics , Rambam Health Care Campus, Haifa</wicri:regionArea><wicri:noRegion>Haifa</wicri:noRegion></affiliation></author></analytic><series><title level="j">Lymphatic research and biology</title><idno type="eISSN">1557-8585</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Order</term><term>Genes, Recessive</term><term>Genetic Association Studies</term><term>Genetic Loci</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation, Missense</term><term>Pedigree</term><term>Phenotype</term><term>RNA Splicing</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Femelle</term><term>Gènes récessifs</term><term>Humains</term><term>Locus génétiques</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Mutation faux-sens</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Ordre des gènes</term><term>Pedigree</term><term>Phénotype</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Épissage des ARN</term><term>Études d'associations génétiques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Order</term><term>Genes, Recessive</term><term>Genetic Association Studies</term><term>Genetic Loci</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Mutation, Missense</term><term>Pedigree</term><term>Phenotype</term><term>RNA Splicing</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Femelle</term><term>Gènes récessifs</term><term>Humains</term><term>Locus génétiques</term><term>Mutation faux-sens</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Ordre des gènes</term><term>Pedigree</term><term>Phénotype</term><term>Épissage des ARN</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary lymphedema covers around 10% of all lymphedema cases. Most cases segregate as an autosomal dominant trait and rarely manifest autosomal recessive inheritance. Our research aimed to map and ultimately to hunt the mutation that causes hereditary lymphedema in an extended consanguineous Muslim family consisting of several affected individuals.</div></front></TEI><affiliations><list><country><li>Israël</li></country></list><tree><country name="Israël"><noRegion><name sortKey="Melikhan Revzin, Svetlana" sort="Melikhan Revzin, Svetlana" uniqKey="Melikhan Revzin S" first="Svetlana" last="Melikhan-Revzin">Svetlana Melikhan-Revzin</name></noRegion><name sortKey="Dagan, Efrat" sort="Dagan, Efrat" uniqKey="Dagan E" first="Efrat" last="Dagan">Efrat Dagan</name><name sortKey="Gershoni Baruch, Ruth" sort="Gershoni Baruch, Ruth" uniqKey="Gershoni Baruch R" first="Ruth" last="Gershoni-Baruch">Ruth Gershoni-Baruch</name><name sortKey="Kurolap, Alina" sort="Kurolap, Alina" uniqKey="Kurolap A" first="Alina" last="Kurolap">Alina Kurolap</name><name sortKey="Mory, Adi" sort="Mory, Adi" uniqKey="Mory A" first="Adi" last="Mory">Adi Mory</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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