Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema

Journal of Investigative Dermatology

Volumn 129, Issue 2, 2009, Pages 509-512

  Verstraeten, Valerie L R M ^a,b,d   Holnthoner, Wolfgang ^c   Van Steensel, Maurice A M ^a,b   Veraart, Joep C J M ^a   Bladergroen, Reno S ^a,b   Heckman, Caroline A ^c   Keskitalo, Salla ^c   Frank, Jorge ^a,b   Alitalo, Kari ^c   Van Geel, Michel ^a,b   Steijlen, Peter M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF HELSINKI   (Finland)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VASCULOTROPIN RECEPTOR 3;

DIMERIZATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; LETTER; MILROY DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

CHILD; FAMILY HEALTH; FEMALE; HUMANS; INFANT; LYMPHEDEMA; MALE; PEDIGREE; POINT MUTATION; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

EID: 58549102310     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.246     Document Type: Letter

References (8)

1. Dixelius J, Makinen T, Wirzenius M, Karkkainen MJ, Wernstedt C, Alitalo K et al. (2003) Ligand-induced vascular endothelial growth factor receptor-3 (VEGFR-3) heterodimerization with VEGFR-2 in primary lymphatic endothelial cells regulates tyrosine phosphorylation sites. J Biol Chem 278:40973-9
2. Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S et al. (2003) Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J Med Genet 40:697-703
3. Ferrell RE (2002) Research perspectives in inherited lymphatic disease. Ann N Y Acad Sci 979:39-51
4. Iljin K, Karkkainen MJ, Lawrence EC, Kimak MA, Uutela M, Taipale J et al. (2001) VEGFR3 gene structure, regulatory region, and sequence polymorphisms. FASEB J 15:1028-1036
5. Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA et al. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet 25:153-9
6. Karkkainen MJ, Jussila L, Ferrell RE, Finegold DN, Alitalo K (2001) Molecular regulation of lymphangiogenesis and targets for tissue oedema. Trends Mol Med 7:18-22
7. Makinen T, Veikkola T, Mustjoki S, Karpanen T, Catimel B, Nice EC et al. (2001) Isolated lymphatic endothelial cells transduce growth, survival and migratory signals via the VEGF-C/D receptor VEGFR-3. EMBO J 20:4762-73
8. Saaristo A, Karkkainen MJ, Alitalo K (2002) Insights into the molecular pathogenesis and targeted treatment of lymphedema. Ann N Y Acad Sci 979:94-110