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Page 1
Adrenomedullin haploinsufficiency predisposes to secondary lymphedema.
Nikitenko LL, Shimosawa T, Henderson S, Mäkinen T, Shimosawa H, Qureshi U, Pedley RB, Rees MC, Fujita T, Boshoff C. Nikitenko LL, et al. Among authors: makinen t. J Invest Dermatol. 2013 Jul;133(7):1768-76. doi: 10.1038/jid.2013.47. Epub 2013 Jan 30. J Invest Dermatol. 2013. PMID: 23364478 Free PMC article.
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S. Ostergaard P, et al. Among authors: makinen t. Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923. Nat Genet. 2011. PMID: 21892158
PROX1 is a transcriptional regulator of MMP14.
Gramolelli S, Cheng J, Martinez-Corral I, Vähä-Koskela M, Elbasani E, Kaivanto E, Rantanen V, Tuohinto K, Hautaniemi S, Bower M, Haglund C, Alitalo K, Mäkinen T, Petrova TV, Lehti K, Ojala PM. Gramolelli S, et al. Among authors: makinen t. Sci Rep. 2018 Jun 22;8(1):9531. doi: 10.1038/s41598-018-27739-w. Sci Rep. 2018. PMID: 29934628 Free PMC article.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: makinen t. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Lymphatic vasculature: a molecular perspective.
Hosking B, Makinen T. Hosking B, et al. Among authors: makinen t. Bioessays. 2007 Dec;29(12):1192-202. doi: 10.1002/bies.20672. Bioessays. 2007. PMID: 18008374 Review.
292 results