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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.
van Duyvenvoorde HA, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Wade JD, Karperien M, Ruivenkamp CA, Losekoot M, van Setten PA, Walenkamp MJ, Noordam C, De Meyts P, Wit JM. van Duyvenvoorde HA, et al. Among authors: van setten pa. Growth Horm IGF Res. 2011 Feb;21(1):44-50. doi: 10.1016/j.ghir.2010.12.004. Epub 2011 Jan 14. Growth Horm IGF Res. 2011. PMID: 21237682
Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.
van Duyvenvoorde HA, van Setten PA, Walenkamp MJ, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Ruivenkamp CA, Losekoot M, Wade JD, De Meyts P, Karperien M, Noordam C, Wit JM. van Duyvenvoorde HA, et al. Among authors: van setten pa, van doorn j. J Clin Endocrinol Metab. 2010 Nov;95(11):E363-7. doi: 10.1210/jc.2010-0511. Epub 2010 Jul 28. J Clin Endocrinol Metab. 2010. PMID: 20668042
Verocytotoxin inhibits mitogenesis and protein synthesis in purified human glomerular mesangial cells without affecting cell viability: evidence for two distinct mechanisms.
Van Setten PA, van Hinsbergh VW, Van den Heuvel LP, van der Velden TJ, van de Kar NC, Krebbers RJ, Karmali MA, Monnens LA. Van Setten PA, et al. Among authors: van de kar nc, van hinsbergh vw, van den heuvel lp, van der velden tj. J Am Soc Nephrol. 1997 Dec;8(12):1877-88. doi: 10.1681/ASN.V8121877. J Am Soc Nephrol. 1997. PMID: 9402090
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Morava E, Kühnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-van der Grinten HL, O'Neill CW, Willemsen MA, Lefeber D, Deen PM, Kornak U, Kremer H, Wevers RA. Morava E, et al. J Clin Endocrinol Metab. 2011 Jan;96(1):E189-98. doi: 10.1210/jc.2010-1539. Epub 2010 Oct 13. J Clin Endocrinol Metab. 2011. PMID: 20943778 Free PMC article.
32 results