Shimomura K - Search Results

1

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CA, Petz O, Mannikko R, Kapoor RR, Hussain K, Skae M, Clayton P, Hattersley A, Ellard S, Ashcroft FM. Shimomura K, et al. EMBO Mol Med. 2009 Jun;1(3):166-77. doi: 10.1002/emmm.200900018. EMBO Mol Med. 2009. PMID: 20049716 Free PMC article.

2

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.

Girard CA, Wunderlich FT, Shimomura K, Collins S, Kaizik S, Proks P, Abdulkader F, Clark A, Ball V, Zubcevic L, Bentley L, Clark R, Church C, Hugill A, Galvanovskis J, Cox R, Rorsman P, Brüning JC, Ashcroft FM. Girard CA, et al. Among authors: shimomura k. J Clin Invest. 2009 Jan;119(1):80-90. doi: 10.1172/JCI35772. Epub 2008 Dec 8. J Clin Invest. 2009. PMID: 19065048 Free PMC article.

3

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM. Craig TJ, et al. Among authors: shimomura k. J Clin Endocrinol Metab. 2009 Jul;94(7):2551-7. doi: 10.1210/jc.2009-0159. Epub 2009 Apr 7. J Clin Endocrinol Metab. 2009. PMID: 19351728 Free PMC article.

4

3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1.

Mikhailov MV, Campbell JD, de Wet H, Shimomura K, Zadek B, Collins RF, Sansom MS, Ford RC, Ashcroft FM. Mikhailov MV, et al. Among authors: shimomura k. EMBO J. 2005 Dec 7;24(23):4166-75. doi: 10.1038/sj.emboj.7600877. Epub 2005 Nov 24. EMBO J. 2005. PMID: 16308567 Free PMC article.

5

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

Shimomura K, Girard CA, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, Ashcroft FM. Shimomura K, et al. Diabetes. 2006 Jun;55(6):1705-12. doi: 10.2337/db05-1640. Diabetes. 2006. PMID: 16731833

6

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

Girard CA, Shimomura K, Proks P, Absalom N, Castano L, Perez de Nanclares G, Ashcroft FM. Girard CA, et al. Among authors: shimomura k. Pflugers Arch. 2006 Dec;453(3):323-32. doi: 10.1007/s00424-006-0112-3. Epub 2006 Sep 22. Pflugers Arch. 2006. PMID: 17021801

7

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

Proks P, Shimomura K, Craig TJ, Girard CA, Ashcroft FM. Proks P, et al. Among authors: shimomura k. Hum Mol Genet. 2007 Aug 15;16(16):2011-9. doi: 10.1093/hmg/ddm149. Epub 2007 Jun 21. Hum Mol Genet. 2007. PMID: 17584766

8

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.

de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM. de Wet H, et al. Among authors: shimomura k. Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. doi: 10.1073/pnas.0707428104. Epub 2007 Nov 19. Proc Natl Acad Sci U S A. 2007. PMID: 18025464 Free PMC article.

9

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F. Shimomura K, et al. Neurology. 2007 Sep 25;69(13):1342-9. doi: 10.1212/01.wnl.0000268488.51776.53. Epub 2007 Jul 25. Neurology. 2007. PMID: 17652641

10

The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue.

Shimomura K, de Nanclares GP, Foutinou C, Caimari M, Castaño L, Ashcroft FM. Shimomura K, et al. Diabet Med. 2010 Feb;27(2):225-9. doi: 10.1111/j.1464-5491.2009.02901.x. Diabet Med. 2010. PMID: 20546268

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