Vaskulärer endothelialer Wachstumsfaktor C
Das VEGFC-Gen kodiert ein Protein, welches die Ausbildung der Lymphgefäße in der Ontogenese steuert. Mutationen führen zu einem autosomal dominanten Lymphödem. Weiterhin scheint das Protein eine Rolle bei der Natriumretention in der Haut und dem salzabhängigen Hypertonus zu spielen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lee J et al. (1996) Vascular endothelial growth factor-related protein: a ligand and specific activator of the tyrosine kinase receptor Flt4.
|
2. |
Machnik A et al. (2009) Macrophages regulate salt-dependent volume and blood pressure by a vascular endothelial growth factor-C-dependent buffering mechanism.
|
3. |
Gordon K et al. (2013) Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.
|
4. |
Villefranc JA et al. (2013) A truncation allele in vascular endothelial growth factor c reveals distinct modes of signaling during lymphatic and vascular development.
|
5. |
Hung CJ et al. (2003) Expression of vascular endothelial growth factor-C in benign and malignant thyroid tumors.
|
6. |
Karkkainen MJ et al. (2004) Vascular endothelial growth factor C is required for sprouting of the first lymphatic vessels from embryonic veins.
|
7. |
Titze J et al. (2010) Sodium sensing in the interstitium and relationship to hypertension.
|
8. |
Slagman MC et al. (2012) Vascular endothelial growth factor C levels are modulated by dietary salt intake in proteinuric chronic kidney disease patients and in healthy subjects.
|
9. |
Liu F et al. (2011) Involvement of the lymphatic system in salt-sensitive hypertension in humans.
|
10. |
Wiig H et al. (2013) Immune cells control skin lymphatic electrolyte homeostasis and blood pressure.
|
11. |
Joukov V et al. (1996) A novel vascular endothelial growth factor, VEGF-C, is a ligand for the Flt4 (VEGFR-3) and KDR (VEGFR-2) receptor tyrosine kinases.
|
12. |
Orphanet article
Orphanet ID 376917
|
13. |
NCBI article
NCBI 7424
|
14. |
OMIM.ORG article
Omim 601528
|
15. |
Wikipedia Artikel
Wikipedia DE (VEGF-C)
|
Update: 14. August 2020