Smith RJ - Search Results

1

Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling.

Giovannone B, Lee E, Laviola L, Giorgino F, Cleveland KA, Smith RJ. Giovannone B, et al. Among authors: smith rj. J Biol Chem. 2003 Aug 22;278(34):31564-73. doi: 10.1074/jbc.M211572200. Epub 2003 May 27. J Biol Chem. 2003. PMID: 12771153 Free article.

2

Distinct Grb10 domain requirements for effects on glucose uptake and insulin signaling.

Mori K, Giovannone B, Smith RJ. Mori K, et al. Among authors: smith rj. Mol Cell Endocrinol. 2005 Jan 31;230(1-2):39-50. doi: 10.1016/j.mce.2004.11.004. Mol Cell Endocrinol. 2005. PMID: 15664450

3

GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.

Giovannone B, Tsiaras WG, de la Monte S, Klysik J, Lautier C, Karashchuk G, Goldwurm S, Smith RJ. Giovannone B, et al. Among authors: smith rj. Hum Mol Genet. 2009 Dec 1;18(23):4629-39. doi: 10.1093/hmg/ddp430. Epub 2009 Sep 10. Hum Mol Genet. 2009. PMID: 19744960 Free PMC article.

4

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Lautier C, Goldwurm S, Dürr A, Giovannone B, Tsiaras WG, Pezzoli G, Brice A, Smith RJ. Lautier C, et al. Among authors: smith rj. Am J Hum Genet. 2008 Apr;82(4):822-33. doi: 10.1016/j.ajhg.2008.01.015. Epub 2008 Mar 20. Am J Hum Genet. 2008. PMID: 18358451 Free PMC article.

5

The adapter protein GRB10 is an endogenous negative regulator of insulin-like growth factor signaling.

Dufresne AM, Smith RJ. Dufresne AM, et al. Among authors: smith rj. Endocrinology. 2005 Oct;146(10):4399-409. doi: 10.1210/en.2005-0150. Epub 2005 Jul 21. Endocrinology. 2005. PMID: 16037382

6

Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.

Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfäffle R, Kratzsch J, Keller E, Kiess W. Raile K, et al. J Clin Endocrinol Metab. 2006 Jun;91(6):2264-71. doi: 10.1210/jc.2005-2146. Epub 2006 Mar 28. J Clin Endocrinol Metab. 2006. PMID: 16569742

7

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfäffle R, Raile K, Seidel B, Smith RJ, Chernausek SD; Intrauterine Growth Retardation (IUGR) Study Group. Abuzzahab MJ, et al. Among authors: smith rj. N Engl J Med. 2003 Dec 4;349(23):2211-22. doi: 10.1056/NEJMoa010107. N Engl J Med. 2003. PMID: 14657428 Free article.

8

Studies of the variability of the genes encoding the insulin-like growth factor I receptor and its ligand in relation to type 2 diabetes mellitus.

Rasmussen SK, Lautier C, Hansen L, Echwald SM, Hansen T, Ekstrøm CT, Urhammer SA, Borch-Johnsen K, Grigorescu F, Smith RJ, Pedersen O. Rasmussen SK, et al. Among authors: smith rj. J Clin Endocrinol Metab. 2000 Apr;85(4):1606-10. doi: 10.1210/jcem.85.4.6494. J Clin Endocrinol Metab. 2000. PMID: 10770205

9

A novel 4EHP-GIGYF2 translational repressor complex is essential for mammalian development.

Morita M, Ler LW, Fabian MR, Siddiqui N, Mullin M, Henderson VC, Alain T, Fonseca BD, Karashchuk G, Bennett CF, Kabuta T, Higashi S, Larsson O, Topisirovic I, Smith RJ, Gingras AC, Sonenberg N. Morita M, et al. Among authors: smith rj. Mol Cell Biol. 2012 Sep;32(17):3585-93. doi: 10.1128/MCB.00455-12. Epub 2012 Jul 2. Mol Cell Biol. 2012. PMID: 22751931 Free PMC article.

10

SLC26A4-Related Sensorineural Hearing Loss.

Smith RJH, Azaiez H, Odell AM. Smith RJH, et al. 1998 Sep 28 [updated 2025 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Sep 28 [updated 2025 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301640 Free Books & Documents. Review.

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