Park SY - Search Results

1

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Støy J, Steiner DF, Park SY, Ye H, Philipson LH, Bell GI. Støy J, et al. Among authors: park sy. Rev Endocr Metab Disord. 2010 Sep;11(3):205-15. doi: 10.1007/s11154-010-9151-3. Rev Endocr Metab Disord. 2010. PMID: 20938745 Free PMC article. Review.

2

In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin).

Støy J, Olsen J, Park SY, Gregersen S, Hjørringgaard CU, Bell GI. Støy J, et al. Among authors: park sy. Diabetologia. 2017 Aug;60(8):1423-1431. doi: 10.1007/s00125-017-4295-2. Epub 2017 May 6. Diabetologia. 2017. PMID: 28478482 Free PMC article.

3

In celebration of a century with insulin - Update of insulin gene mutations in diabetes.

Støy J, De Franco E, Ye H, Park SY, Bell GI, Hattersley AT. Støy J, et al. Among authors: park sy. Mol Metab. 2021 Oct;52:101280. doi: 10.1016/j.molmet.2021.101280. Epub 2021 Jun 24. Mol Metab. 2021. PMID: 34174481 Free PMC article. Review.

4

In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.

Rajan S, Eames SC, Park SY, Labno C, Bell GI, Prince VE, Philipson LH. Rajan S, et al. Among authors: park sy. Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E403-10. doi: 10.1152/ajpendo.00592.2009. Epub 2009 Dec 1. Am J Physiol Endocrinol Metab. 2010. PMID: 19952343 Free PMC article.

5

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.

Park SY, Ye H, Steiner DF, Bell GI. Park SY, et al. Biochem Biophys Res Commun. 2010 Jan 15;391(3):1449-54. doi: 10.1016/j.bbrc.2009.12.090. Epub 2009 Dec 23. Biochem Biophys Res Commun. 2010. PMID: 20034470 Free PMC article.

6

Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.

Carmody D, Park SY, Ye H, Perrone ME, Alkorta-Aranburu G, Highland HM, Hanis CL, Philipson LH, Bell GI, Greeley SA. Carmody D, et al. Among authors: park sy. J Med Genet. 2015 Sep;52(9):612-6. doi: 10.1136/jmedgenet-2015-103220. Epub 2015 Jun 22. J Med Genet. 2015. PMID: 26101329 Free PMC article.

7

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW; T2D-Genes Consortium. Hwang JL, et al. Among authors: park sy. Pediatr Diabetes. 2018 May;19(3):388-392. doi: 10.1111/pedi.12612. Epub 2017 Nov 29. Pediatr Diabetes. 2018. PMID: 29193502 Free PMC article.

8

Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin.

Park SY, Ludwig MZ, Tamarina NA, He BZ, Carl SH, Dickerson DA, Barse L, Arun B, Williams CL, Miles CM, Philipson LH, Steiner DF, Bell GI, Kreitman M. Park SY, et al. Genetics. 2014 Feb;196(2):539-55. doi: 10.1534/genetics.113.157602. Epub 2013 Nov 26. Genetics. 2014. PMID: 24281154 Free PMC article.

9

Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.

Dalgin G, Tryba AK, Cohen AP, Park SY, Philipson LH, Greeley SAW, Garcia AJ 3rd. Dalgin G, et al. Among authors: park sy. Sci Rep. 2021 Nov 3;11(1):21590. doi: 10.1038/s41598-021-00939-7. Sci Rep. 2021. PMID: 34732776 Free PMC article.

10

Evidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice.

Bailey KA, Savic D, Zielinski M, Park SY, Wang LJ, Witkowski P, Brady M, Hara M, Bell GI, Nobrega MA. Bailey KA, et al. Among authors: park sy. Hum Mol Genet. 2015 Mar 15;24(6):1646-54. doi: 10.1093/hmg/ddu577. Epub 2014 Nov 14. Hum Mol Genet. 2015. PMID: 25398947 Free PMC article.

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