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286 results

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Page 1
Mutations in EPHB4 cause human venous valve aplasia.
Lyons O, Walker J, Seet C, Ikram M, Kuchta A, Arnold A, Hernández-Vásquez M, Frye M, Vizcay-Barrena G, Fleck RA, Patel AS, Padayachee S, Mortimer P, Jeffery S, Berland S, Mansour S, Ostergaard P, Makinen T, Modarai B, Saha P, Smith A. Lyons O, et al. Among authors: makinen t. JCI Insight. 2021 Sep 22;6(18):e140952. doi: 10.1172/jci.insight.140952. JCI Insight. 2021. PMID: 34403370 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.
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P. Martin-Almedina S, et al. Among authors: makinen t. J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11. J Clin Invest. 2016. PMID: 27400125 Free PMC article.
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.
286 results