Research Perspectives in Inherited Lymphatic Disease
Identifieur interne : 009592 ( Main/Exploration ); précédent : 009591; suivant : 009593Research Perspectives in Inherited Lymphatic Disease
Auteurs : Robert E. Ferrell [États-Unis]Source :
- Annals of the New York Academy of Sciences [ 0077-8923 ] ; 2002-12.
Descripteurs français
- KwdFr :
- Facteur de croissance endothéliale vasculaire de type C, Facteurs de croissance endothéliale (génétique), Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Humains, Lymphoedème (génétique), Maladies lymphatiques (génétique), Protéines de liaison à l'ADN (génétique), Recherche (tendances), Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Syndrome, Syndrome de Noonan (génétique).
- MESH :
- génétique : Facteurs de croissance endothéliale, Facteurs de transcription, Lymphoedème, Maladies lymphatiques, Protéines de liaison à l'ADN, Récepteur-3 au facteur croissance endothéliale vasculaire, Syndrome de Noonan.
- tendances : Recherche.
- Facteur de croissance endothéliale vasculaire de type C, Facteurs de transcription Forkhead, Humains, Syndrome.
English descriptors
- KwdEn :
- DNA-Binding Proteins (genetics), Endothelial Growth Factors (genetics), Forkhead Transcription Factors, Humans, Lymphatic Diseases (genetics), Lymphedema (genetics), Noonan Syndrome (genetics), Research (trends), Syndrome, Transcription Factors (genetics), Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : DNA-Binding Proteins, Endothelial Growth Factors, Transcription Factors, Vascular Endothelial Growth Factor Receptor-3.
- chemical : Forkhead Transcription Factors, Vascular Endothelial Growth Factor C.
- genetics : Lymphatic Diseases, Lymphedema, Noonan Syndrome.
- trends : Research.
- Humans, Syndrome.
Abstract
Abstract: The hereditary lymphedemas provide an opportunity to identify genes involved in normal and deranged lymphatic development. Genetic analysis of families with Milroy's disease identified mutations in VEGFR3 as a cause of congenital lymphedema, confirming the importance of VEGFC/VEGFR3 signaling in lymphatic development. These observations led to the identification of a mouse model for primary lymphedema, and subsequent analysis of this mouse model, using transgenic and gene transfer techniques, has provided initial clues to the development of a biologically based therapy for primary lymphedema. Of more importance from a public health perspective is the fact that manipulation of this pathway may lead to effective therapies for the more prevalent forms of secondary lymphedema. Identification of FOXC2 as the gene mutated in the lymphedema‐distichiasis syndrome has revealed new molecular insight into lymphatic development. Molecular analysis of the FOXC2 pathway may provide clues to developmental pathways shared by the lymphatic system and the other developmental abnormalities associated with this complex syndrome. With improving knowledge of the human genome, genetic analysis of families with lymphedema continues to offer one of the most promising approaches to identifying genes influencing lymphatic development.
Url:
DOI: 10.1111/j.1749-6632.2002.tb04866.x
Affiliations:
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Genetic analysis of families with Milroy's disease identified mutations in VEGFR3 as a cause of congenital lymphedema, confirming the importance of VEGFC/VEGFR3 signaling in lymphatic development. These observations led to the identification of a mouse model for primary lymphedema, and subsequent analysis of this mouse model, using transgenic and gene transfer techniques, has provided initial clues to the development of a biologically based therapy for primary lymphedema. Of more importance from a public health perspective is the fact that manipulation of this pathway may lead to effective therapies for the more prevalent forms of secondary lymphedema. Identification of FOXC2 as the gene mutated in the lymphedema‐distichiasis syndrome has revealed new molecular insight into lymphatic development. Molecular analysis of the FOXC2 pathway may provide clues to developmental pathways shared by the lymphatic system and the other developmental abnormalities associated with this complex syndrome. With improving knowledge of the human genome, genetic analysis of families with lymphedema continues to offer one of the most promising approaches to identifying genes influencing lymphatic development.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name></region><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. 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