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Page 1
Human venous valve disease caused by mutations in FOXC2 and GJC2.
Lyons O, Saha P, Seet C, Kuchta A, Arnold A, Grover S, Rashbrook V, Sabine A, Vizcay-Barrena G, Patel A, Ludwinski F, Padayachee S, Kume T, Kwak BR, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S, Brown N, Makinen T, Petrova TV, Modarai B, Smith A. Lyons O, et al. Among authors: makinen t. J Exp Med. 2017 Aug 7;214(8):2437-2452. doi: 10.1084/jem.20160875. J Exp Med. 2017. PMID: 28724617 Free PMC article.
Lymphatic dysfunction, not aplasia, underlies Milroy disease.
Mellor RH, Hubert CE, Stanton AW, Tate N, Akhras V, Smith A, Burnand KG, Jeffery S, Mäkinen T, Levick JR, Mortimer PS. Mellor RH, et al. Among authors: makinen t. Microcirculation. 2010 May;17(4):281-96. doi: 10.1111/j.1549-8719.2010.00030.x. Microcirculation. 2010. PMID: 20536741
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
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.
Mechanotransduction, PROX1, and FOXC2 cooperate to control connexin37 and calcineurin during lymphatic-valve formation.
Sabine A, Agalarov Y, Maby-El Hajjami H, Jaquet M, Hägerling R, Pollmann C, Bebber D, Pfenniger A, Miura N, Dormond O, Calmes JM, Adams RH, Mäkinen T, Kiefer F, Kwak BR, Petrova TV. Sabine A, et al. Among authors: makinen t. Dev Cell. 2012 Feb 14;22(2):430-45. doi: 10.1016/j.devcel.2011.12.020. Epub 2012 Feb 2. Dev Cell. 2012. PMID: 22306086 Free article.
FOXC2 and fluid shear stress stabilize postnatal lymphatic vasculature.
Sabine A, Bovay E, Demir CS, Kimura W, Jaquet M, Agalarov Y, Zangger N, Scallan JP, Graber W, Gulpinar E, Kwak BR, Mäkinen T, Martinez-Corral I, Ortega S, Delorenzi M, Kiefer F, Davis MJ, Djonov V, Miura N, Petrova TV. Sabine A, et al. Among authors: makinen t. J Clin Invest. 2015 Oct 1;125(10):3861-77. doi: 10.1172/JCI80454. Epub 2015 Sep 21. J Clin Invest. 2015. PMID: 26389677 Free PMC article.
286 results