Mutations in FOXC2 in Humans (Lymphoedema Distichiasis Syndrome) Cause Lymphatic Dysfunction on Dependency | Zendy

Russell H. Mellor | Zendy; Naomi Tate | Zendy; A.W.B. Stanton | Zendy; Charlotte E. Hubert | Zendy; Taija Mäkinen | Zendy; Alberto Smith | Zendy; K G Burnand | Zendy; Steve Jeffery | Zendy; J. R. Levick | Zendy; Peter Mortimer | Zendy

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Mutations in <i>FOXC2</i> in Humans (Lymphoedema Distichiasis Syndrome) Cause Lymphatic Dysfunction on Dependency

Author(s) -

Russell H. Mellor,

Naomi Tate,

A.W.B. Stanton,

Charlotte E. Hubert,

Taija Mäkinen,

Alberto Smith,

K G Burnand,

Steve Jeffery,

J. R. Levick,

Peter Mortimer

Publication year - 2011

Publication title -

journal of vascular research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.58

H-Index - 74

eISSN - 1423-0135

pISSN - 1018-1172

DOI - 10.1159/000323484

Subject(s) - lymphatic system , medicine , anatomy , lymphatic vessel , pathology , cancer , metastasis

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.

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