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Results: 1 to 20 of 101

1.

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM.

Hum Mol Genet. 2010 Mar 15;19(6):963-72. doi: 10.1093/hmg/ddp554. Epub 2009 Dec 18.

PMID:
20022885
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.

Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. Epub 2004 Dec 6.

PMID:
15583126
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.

de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MS, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM.

EMBO Rep. 2008 Jul;9(7):648-54. doi: 10.1038/embor.2008.71. Epub 2008 May 23.

PMID:
18497752
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.

Lin YW, Li A, Grasso V, Battaglia D, Crinò A, Colombo C, Barbetti F, Nichols CG.

PLoS One. 2013 May 7;8(5):e63758. doi: 10.1371/journal.pone.0063758. Print 2013.

PMID:
23667671
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. Epub 2007 Nov 19.

PMID:
18025464
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.

Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM.

Diabetologia. 2008 May;51(5):802-10. doi: 10.1007/s00125-008-0923-1. Epub 2008 Mar 12.

PMID:
18335204
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

J Clin Endocrinol Metab. 2009 Jul;94(7):2551-7. doi: 10.1210/jc.2009-0159. Epub 2009 Apr 7.

PMID:
19351728
[PubMed - indexed for MEDLINE]
8.

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.

Tammaro P, Girard C, Molnes J, Njølstad PR, Ashcroft FM.

EMBO J. 2005 Jul 6;24(13):2318-30. Epub 2005 Jun 16.

PMID:
15962003
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.

Lin YW, Bushman JD, Yan FF, Haidar S, MacMullen C, Ganguly A, Stanley CA, Shyng SL.

J Biol Chem. 2008 Apr 4;283(14):9146-56. doi: 10.1074/jbc.M708798200. Epub 2008 Feb 4.

PMID:
18250167
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

EMBO Mol Med. 2009 Jun;1(3):166-77. doi: 10.1002/emmm.200900018.

PMID:
20049716
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

Pflugers Arch. 2006 Dec;453(3):323-32. Epub 2006 Sep 22.

PMID:
17021801
[PubMed - indexed for MEDLINE]
12.

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.

Diabet Med. 2010 Feb;27(2):225-9. doi: 10.1111/j.1464-5491.2009.02901.x.

PMID:
20546268
[PubMed - indexed for MEDLINE]
13.

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.

Hum Mol Genet. 2006 Jun 1;15(11):1793-800. Epub 2006 Apr 13.

PMID:
16613899
[PubMed - indexed for MEDLINE]
Free Article
14.

Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.

Zhou Q, Garin I, Castaño L, Argente J, Muñoz-Calvo MT, Perez de Nanclares G, Shyng SL.

J Clin Endocrinol Metab. 2010 Dec;95(12):E473-8. doi: 10.1210/jc.2010-1231. Epub 2010 Sep 1.

PMID:
20810569
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.

Winkler M, Lutz R, Russ U, Quast U, Bryan J.

J Biol Chem. 2009 Mar 13;284(11):6752-62. doi: 10.1074/jbc.M805435200. Epub 2009 Jan 12.

PMID:
19139106
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

J Clin Invest. 2009 Jan;119(1):80-90. doi: 10.1172/JCI35772. Epub 2008 Dec 8.

PMID:
19065048
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.

Edghill EL, Flanagan SE, Ellard S.

Rev Endocr Metab Disord. 2010 Sep;11(3):193-8. doi: 10.1007/s11154-010-9149-x. Review.

PMID:
20922570
[PubMed - indexed for MEDLINE]
18.

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.

Tarasov AI, Girard CA, Larkin B, Tammaro P, Flanagan SE, Ellard S, Ashcroft FM.

Diabetes Obes Metab. 2007 Nov;9 Suppl 2:46-55.

PMID:
17919178
[PubMed - indexed for MEDLINE]
19.

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.

Tammaro P, Proks P, Ashcroft FM.

J Physiol. 2006 Feb 15;571(Pt 1):3-14. Epub 2005 Dec 8.

PMID:
16339180
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.

Tammaro P, Ashcroft FM.

J Physiol. 2007 Nov 1;584(Pt 3):743-53. Epub 2007 Sep 13.

PMID:
17855752
[PubMed - indexed for MEDLINE]
Free PMC Article

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