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Clinical examples of disturbed IGF signaling: intrauterine and postnatal growth retardation due to mutations of the insulin-like growth factor I receptor (IGF-IR) gene.
Kiess W, Kratzsch J, Keller E, Schneider A, Raile K, Klammt J, Seidel B, Garten A, Schmidt H, Pfäffle R. Kiess W, et al. Among authors: pfaffle r. Rev Endocr Metab Disord. 2005 Aug;6(3):183-7. doi: 10.1007/s11154-005-3049-5. Rev Endocr Metab Disord. 2005. PMID: 16151622 No abstract available.
IGF signaling defects as causes of growth failure and IUGR.
Klammt J, Pfäffle R, Werner H, Kiess W. Klammt J, et al. Among authors: pfaffle r. Trends Endocrinol Metab. 2008 Aug;19(6):197-205. doi: 10.1016/j.tem.2008.03.003. Trends Endocrinol Metab. 2008. PMID: 18515143 Review.
Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.
Kruis T, Klammt J, Galli-Tsinopoulou A, Wallborn T, Schlicke M, Müller E, Kratzsch J, Körner A, Odeh R, Kiess W, Pfäffle R. Kruis T, et al. Among authors: pfaffle r. J Clin Endocrinol Metab. 2010 Mar;95(3):1137-42. doi: 10.1210/jc.2009-1433. Epub 2010 Jan 26. J Clin Endocrinol Metab. 2010. PMID: 20103656
A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation.
Wallborn T, Wüller S, Klammt J, Kruis T, Kratzsch J, Schmidt G, Schlicke M, Müller E, van de Leur HS, Kiess W, Pfäffle R. Wallborn T, et al. Among authors: pfaffle r. J Clin Endocrinol Metab. 2010 May;95(5):2316-24. doi: 10.1210/jc.2009-2404. Epub 2010 Mar 31. J Clin Endocrinol Metab. 2010. PMID: 20357178
IGF1R mutations as cause of SGA.
Klammt J, Kiess W, Pfäffle R. Klammt J, et al. Among authors: pfaffle r. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):191-206. doi: 10.1016/j.beem.2010.09.012. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396585 Review.
Genetics of human stature: Insight from single gene disorders.
Kiess W, Kratzsch J, Kruis T, Müller E, Wallborn T, Odeh R, Schlicke M, Klammt J, Pfäffle R. Kiess W, et al. Among authors: pfaffle r. Horm Res Paediatr. 2011;76 Suppl 3:11-3. doi: 10.1159/000330140. Epub 2011 Sep 7. Horm Res Paediatr. 2011. PMID: 21912148
124 results