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The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein

Autor: Monique Losekoot, Claudia A. L. Ruivenkamp, Lisbeth Gauguin, P.A. van Setten, M.J.E. Walenkamp, P. De Meyts, J. van Doorn, Cees Noordam, Marcel Karperien, Jan M. Wit, H.A. van Duyvenvoorde, J. Koenig, Wilma Oostdijk, John D. Wade

Publikováno v: None
Growth Hormone & Igf Research, 21, 1, pp. 44-50
Growth Hormone & Igf Research, 21, 44-50
Growth hormone & IGF research, 21(1), 44-50. Churchill Livingstone
Growth Hormone and IGF Research, 21(1), 44-50. Churchill Livingstone
van Duyvenvoorde, H A, van Doorn, J, Koenig, J, Gauguin, L, Oostdijk, W, Wade, J D, Karperien, M, Ruivenkamp, C A L, Losekoot, M, van Setten, P A, Walenkamp, M J E, Noordam, C, De Meyts, P & Wit, J M 2011, ' The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein ', Growth Hormone and IGF Research, vol. 21, no. 1, pp. 44-50 . https://doi.org/10.1016/j.ghir.2010.12.004

Item does not contain fulltext OBJECTIVE: While in previous studies heterozygosity for an Insulin-Like Growth Factor 1 (IGF1) defect only modestly decreased height and head circumference, we recently reported on two siblings with severe short stature

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9263eab4f81a06f3090411289068707f
https://doi.org/10.1016/j.ghir.2010.12.004

Effects of TNFα on verocytotoxin cytotoxicity in purified human glomerular microvascular endothelial cells

Autor: Victor W.M. van Hinsbergh, L.P.W.J. van den Heuvel, T. J. A. N. Van Der Velden, P.A. van Setten, Karel J.M. Assmann, N.C.A.J. van de Kar, L.A.H. Monnens, J.D. Mahan, Mario A. Vermeer

Publikováno v: Kidney International. Supplement, 51, pp. 1245-1256
Kidney International. Supplement, 51, 4, pp. 1245-1256
Kidney International. Supplement, 51, 1245-1256

Effects of TNFα and verocytotoxin cytotoxicity in human glomerular microvascular endothelial cells. In the pathogenesis of the hemolytic uremic syndrome (HUS), endothelial damage of glomeruli and arterioles of the kidney appears to play a central ro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::927376506edf5c9330c16fb36e46e6ee
https://hdl.handle.net/2066/25726

Effects of verocytotoxin-1 on nonadherent human monocytes: binding characteristics, protein synthesis, and induction of cytokine release

Autor: L.P.W.J. van den Heuvel, R.G.G. Verstraten, P.A. van Setten, L.A.H. Monnens, V.W.H. van Hinsbergh

Publikováno v: Blood, 1, 88, 174-183

The epidemic form of the hemolytic uremic syndrome (HUS) has been associated with a verocytotoxin producing Escherichia coli infection. Endothelial cell damage of glomeruli and arterioles of the kidney plays a central role in the pathogenesis of HUS.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4471ef85c088db7ea2a64d6bcea7f96
https://doi.org/10.1182/blood.v88.1.174.174

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