Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

By M. Karkkainen, R. Ferrell, E. Lawrence, M. Kimak, K. L. Levinson, M. McTigue, K. Alitalo, D. Finegold. Nature Genetics, 2000

686 citations recorded by the source corpus.

Subfields: Cell Biology, Molecular Biology, Oncology

View Paper: https://www.semanticscholar.org/paper/8c1f6cdfb45d8ca88ad55a91a1b743aea3cd9d4d

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cell Biology

1. L. Claesson‐Welsh
2. Peter Carmeliet
3. S. Koch
4. K. Alitalo

In Molecular Biology

1. K. Alitalo
2. L. Claesson‐Welsh
3. Peter Carmeliet
4. Martin Tristani-Firouzi
5. Hongyu Zhao
6. Mark Yandell
7. Shrikant M. Mane
8. A. Giardini

In Oncology

1. L. Claesson‐Welsh
2. Peter Carmeliet
3. K. Alitalo
4. M. Shibuya
5. Rakesh K. Jain
6. N. Ferrara

Citations in the corpus

• Signal transduction by vascular endothelial growth factor receptors. (2012, background): “Patients with certain variants of hereditary lymphedema carry mutations in VEGFR3, resulting in an inactive tyrosine kinase (Irrthum et al. 2000; Karkkainen et al. 2000; Ghalamkarpour et al. 2006).”
• Lymphedema: A Comprehensive Review (2007, positive): “Recent genetic studies have linked the disease to an inactivation mutation of the VEGFR (vascular endothelial growth factor receptor) 3 tyrosine kinase signaling pathway found in lymphatic vessels.(3,4) Familial lymphedema praecox, also termed Meige disease, typically presents during puberty and als”
• Molecular mechanisms of lymphangiogenesis in health and disease. (2002, background): “This mutation reduces the VEGFR-3 tyrosine kinase activity with subsequent failure in transducing VEGF-C/VEGF-D signals (Karkkainen et al., 2000).”
• Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands (2017, positive): “Interestingly, diverse missense mutations that cluster in the kinase domain and impair enzymatic activity cause hereditary lymphedema (Figure 3b) 29 .”
• Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. (2000, background): “The most common form of congenital, primary hereditary lymphedema—Milroy disease (MIM 153100)—is sometimes caused by mutations in the vascular endothelial growth–factor receptor-3 gene (VEGFR-3, or FLT4) (Karkkainen et al. 2000).”