LymphedemaV1, Main, Exploration, bibRecord, 004C98

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.

Identifieur interne : 004C98 ( Main/Exploration ); précédent : 004C97; suivant : 004C99

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.

Auteurs : Russell H. Mellor [Royaume-Uni] ; Naomi Tate ; Anthony W B. Stanton ; Charlotte Hubert ; Taija M Kinen ; Alberto Smith ; Kevin G. Burnand ; Steve Jeffery ; J Rodney Levick ; Peter S. Mortimer

Source :

Journal of vascular research [ 1423-0135 ] ; 2011.

RBID : pubmed:21464574

Descripteurs français

KwdFr :
- Adulte, Adulte d'âge moyen, Avant-bras, Biopsie, Cils (anatomopathologie), Cils (imagerie diagnostique), Cils (malformations), Facteurs de transcription Forkhead (génétique), Femelle, Gravitation, Humains, Jeune adulte, Lymphoedème (anatomopathologie), Lymphoedème (génétique), Lymphoedème (imagerie diagnostique), Lymphographie, Mutation germinale, Mâle, Pied, Stress physiologique, Système lymphatique (anatomopathologie), Système lymphatique (physiologie).
MESH :
- anatomopathologie : Cils, Lymphoedème, Système lymphatique.
- génétique : Facteurs de transcription Forkhead, Lymphoedème.
- imagerie diagnostique : Cils, Lymphoedème.
- malformations : Cils.
- physiologie : Système lymphatique.
- Adulte, Adulte d'âge moyen, Avant-bras, Biopsie, Femelle, Gravitation, Humains, Jeune adulte, Lymphographie, Mutation germinale, Mâle, Pied, Stress physiologique.

English descriptors

KwdEn :
- Adult, Biopsy, Eyelashes (abnormalities), Eyelashes (diagnostic imaging), Eyelashes (pathology), Female, Foot, Forearm, Forkhead Transcription Factors (genetics), Germ-Line Mutation, Gravitation, Humans, Lymphatic System (pathology), Lymphatic System (physiology), Lymphedema (diagnostic imaging), Lymphedema (genetics), Lymphedema (pathology), Lymphography, Male, Middle Aged, Stress, Physiological, Young Adult.
MESH :
- chemical , genetics : Forkhead Transcription Factors.
- abnormalities : Eyelashes.
- diagnostic imaging : Eyelashes, Lymphedema.
- genetics : Lymphedema.
- pathology : Eyelashes, Lymphatic System, Lymphedema.
- physiology : Lymphatic System.
- Adult, Biopsy, Female, Foot, Forearm, Germ-Line Mutation, Gravitation, Humans, Lymphography, Male, Middle Aged, Stress, Physiological, Young Adult.

Abstract

Human lymphoedema distichiasis syndrome (LDS) results from germline mutations in transcription factor FOXC2. In a mouse model, lack of lymphatic and venous valves is observed plus abnormal smooth muscle cell recruitment to initial lymphatics. We investigated the mechanism of lymphoedema in humans with FOXC2 mutations, specifically the effect of gravitational forces on dermal lymphatic function.

DOI: 10.1159/000323484
PubMed: 21464574

Affiliations:

Le document en format XML

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<term>Biopsy</term>
<term>Eyelashes (abnormalities)</term>
<term>Eyelashes (diagnostic imaging)</term>
<term>Eyelashes (pathology)</term>
<term>Female</term>
<term>Foot</term>
<term>Forearm</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>Germ-Line Mutation</term>
<term>Gravitation</term>
<term>Humans</term>
<term>Lymphatic System (pathology)</term>
<term>Lymphatic System (physiology)</term>
<term>Lymphedema (diagnostic imaging)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
<term>Lymphography</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Stress, Physiological</term>
<term>Young Adult</term>
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<term>Adulte d'âge moyen</term>
<term>Avant-bras</term>
<term>Biopsie</term>
<term>Cils (anatomopathologie)</term>
<term>Cils (imagerie diagnostique)</term>
<term>Cils (malformations)</term>
<term>Facteurs de transcription Forkhead (génétique)</term>
<term>Femelle</term>
<term>Gravitation</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (imagerie diagnostique)</term>
<term>Lymphographie</term>
<term>Mutation germinale</term>
<term>Mâle</term>
<term>Pied</term>
<term>Stress physiologique</term>
<term>Système lymphatique (anatomopathologie)</term>
<term>Système lymphatique (physiologie)</term>
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<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Cils</term>
<term>Lymphoedème</term>
<term>Système lymphatique</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription Forkhead</term>
<term>Lymphoedème</term>
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<term>Lymphoedème</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Eyelashes</term>
<term>Lymphatic System</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Lymphatic System</term>
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<term>Biopsy</term>
<term>Female</term>
<term>Foot</term>
<term>Forearm</term>
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<term>Femelle</term>
<term>Gravitation</term>
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<term>Jeune adulte</term>
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<front><div type="abstract" xml:lang="en">Human lymphoedema distichiasis syndrome (LDS) results from germline mutations in transcription factor FOXC2. In a mouse model, lack of lymphatic and venous valves is observed plus abnormal smooth muscle cell recruitment to initial lymphatics. We investigated the mechanism of lymphoedema in humans with FOXC2 mutations, specifically the effect of gravitational forces on dermal lymphatic function.</div>
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<name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J Rodney" last="Levick">J Rodney Levick</name>
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Serveur d'exploration sur le lymphœdème

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.

Source :

Descripteurs français

English descriptors

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
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