%0 Journal Article %1 Karkkainen.2000 %A Karkkainen, M. J. %A Ferrell, R. E. %A Lawrence, E. C. %A Kimak, M. A. %A Levinson, K. L. %A McTigue, M. A. %A Alitalo, K. %A Finegold, D. N. %D 2000 %J Nat.Genet. %K 5 Activation Alleles Animals C Cell Chemistry Chromosomes Data Dominant Endothelial Enzyme Factor Factors Female Fusion Genes Growth Half-Life Human Humans Infant Kinase Kinases Laboratories Line Lymphedema Male Mice Missense Models Molecular Mutation Newborn Pair Pedigree Phosphorylation Protein Protein-Tyrosine Proteins Receptor Receptor-3 Receptors Recombinant Research Sequence Signal Stability Structure Surface Transcriptional Transduction Tyrosine Vascular congenital drug effects genetics metabolism pharmacology protein secondary %N 2 %P 153-159 %T Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema %U PM:10835628 %V 25 %X Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3 (VEGFR-3), in several families. All disease-associated alleles analysed had missense mutations and encoded proteins with an inactive tyrosine kinase, preventing downstream gene activation. Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema

@article{Karkkainen.2000, abstract = {Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3 (VEGFR-3), in several families. All disease-associated alleles analysed had missense mutations and encoded proteins with an inactive tyrosine kinase, preventing downstream gene activation. Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema}, added-at = {2010-02-05T11:28:39.000+0100}, author = {Karkkainen, M. J. and Ferrell, R. E. and Lawrence, E. C. and Kimak, M. A. and Levinson, K. L. and McTigue, M. A. and Alitalo, K. and Finegold, D. N.}, biburl = {https://www.bibsonomy.org/bibtex/2fdc813c8de774f99db38d80c7745dbef/kanefendt}, interhash = {cb1bd6e180b39fd588060f7c1307e6f6}, intrahash = {fdc813c8de774f99db38d80c7745dbef}, journal = {Nat.Genet.}, keywords = {5 Activation Alleles Animals C Cell Chemistry Chromosomes Data Dominant Endothelial Enzyme Factor Factors Female Fusion Genes Growth Half-Life Human Humans Infant Kinase Kinases Laboratories Line Lymphedema Male Mice Missense Models Molecular Mutation Newborn Pair Pedigree Phosphorylation Protein Protein-Tyrosine Proteins Receptor Receptor-3 Receptors Recombinant Research Sequence Signal Stability Structure Surface Transcriptional Transduction Tyrosine Vascular congenital drug effects genetics metabolism pharmacology protein secondary}, number = 2, pages = {153-159}, timestamp = {2010-02-05T11:28:45.000+0100}, title = {Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema}, url = {PM:10835628}, volume = 25, year = 2000 }