Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

By Ji Fang, S. Dagenais, R. Erickson, Martin F. Arlt, M. W. Glynn, J. Gorski, L. Seaver, T. Glover. American Journal of Human Genetics, 2000

645 citations recorded by the source corpus.

How researchers see this paper

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

Molecular mechanisms of lymphangiogenesis in health and disease. (2002, background): “Besides VEGFR-3, FOXC2 gene mutations cause primary lymphedema (Fang et al., 2000), and other genes are likely involved in this disease.”
Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis (2004, background): “In lymphedema–distichiasis (LD, OMIM 153400), mutations have been described in the forkhead transcription factor gene FOXC2 (refs”
Long-range control of gene expression: emerging mechanisms and disruption in disease. (2005, background): “Interestingly, another forkhead gene, FOXL1, also maps between FOXC2 and the breakpoint and thus could also be inactivated and have phenotypic effects in the translocation patient (Fang et al. 2000).”
Forkhead transcription factors: key players in development and metabolism. (2002, background): “, 2001), and mutations in FOXC2 lead to distichiasis, or double rows of eyelashes, together with lymphedema (Bell et al., 2001; Erickson, 2001; Fang et al., 2000; Finegold et al., 2001).”