Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.
Identifieur interne : 004C98 ( Main/Curation ); précédent : 004C97; suivant : 004C99Mutations 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. MortimerSource :
- Journal of vascular research [ 1423-0135 ] ; 2011.
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
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pubmed:21464574Le document en format XML
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<term>Eyelashes (diagnostic imaging)</term>
<term>Eyelashes (pathology)</term>
<term>Female</term>
<term>Foot</term>
<term>Forearm</term>
<term>Forkhead Transcription Factors (genetics)</term>
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<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
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<term>Jeune adulte</term>
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<term>Stress physiologique</term>
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<term>Female</term>
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<term>Forearm</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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