Vaslkulärer endothelialer Wachstumshormonrezeptor 3
Das FLT4-Gen kodiert einen Tyrosin-Kinase-Rezeptor, der die endothelialen Wachstumsfaktoren C und D bindet. Mutationen werden beim autosomal dominanten hereditären Lymphödem Typ 1a und gelegentlich in den Tumorzellen von infantilen kapillären Hämangiomen gefunden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Walter JW et al. (2002) Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma.
|
2. |
Zhang Y et al. (2014) Activation of vascular endothelial growth factor receptor-3 in macrophages restrains TLR4-NF-κB signaling and protects against endotoxin shock.
|
3. |
Benedito R et al. (2012) Notch-dependent VEGFR3 upregulation allows angiogenesis without VEGF-VEGFR2 signalling.
|
4. |
Wang Y et al. (2010) Ephrin-B2 controls VEGF-induced angiogenesis and lymphangiogenesis.
|
5. |
Tammela T et al. (2008) Blocking VEGFR-3 suppresses angiogenic sprouting and vascular network formation.
|
6. |
Siekmann AF et al. (2007) Notch signalling limits angiogenic cell behaviour in developing zebrafish arteries.
|
7. |
Cursiefen C et al. (2006) Nonvascular VEGF receptor 3 expression by corneal epithelium maintains avascularity and vision.
|
8. |
Kim H et al. (2003) Molecular mechanisms in lymphangiogenesis: model systems and implications in human disease.
|
9. |
Karkkainen MJ et al. (2001) A model for gene therapy of human hereditary lymphedema.
|
10. |
Irrthum A et al. (2000) Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
|
11. |
Dumont DJ et al. (1998) Cardiovascular failure in mouse embryos deficient in VEGF receptor-3.
|
12. |
Lee J et al. (1996) Vascular endothelial growth factor-related protein: a ligand and specific activator of the tyrosine kinase receptor Flt4.
|
13. |
Offori TW et al. (1993) Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature.
|
14. |
Pajusola K et al. (1994) Signalling properties of FLT4, a proteolytically processed receptor tyrosine kinase related to two VEGF receptors.
|
15. |
Kaipainen A et al. (1995) Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development.
|
16. |
Pajusola K et al. (1992) FLT4 receptor tyrosine kinase contains seven immunoglobulin-like loops and is expressed in multiple human tissues and cell lines.
|
17. |
Galland F et al. (1992) Chromosomal localization of FLT4, a novel receptor-type tyrosine kinase gene.
|
18. |
Aprelikova O et al. (1992) FLT4, a novel class III receptor tyrosine kinase in chromosome 5q33-qter.
|
19. |
Ghalamkarpour A et al. (2009) Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
|
20. |
Connell FC et al. (2009) Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.
|
21. |
Ghalamkarpour A et al. (2006) Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
|
22. |
Spiegel R et al. (2006) Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
|
23. |
Evans AL et al. (2003) Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.
|
24. |
Karkkainen MJ et al. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
|
25. |
Ferrell RE et al. (1998) Hereditary lymphedema: evidence for linkage and genetic heterogeneity.
|
26. |
Warrington JA et al. (1992) A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5.
|
27. |
NCBI article
NCBI 2324
|
28. |
OMIM.ORG article
Omim 136352
|
29. |
Orphanet article
Orphanet ID 121872
|
Update: 14. August 2020