PubMed (cited) for id: 600937

Year	Number of Results
1993	1
1995	2
1996	2
1997	3
1998	1
2000	1
2001	1
2003	1
2004	6
2005	9
2006	4
2007	5
2008	4
2009	4
2010	3
2012	1
2019	1
2024	0

1

Novel dominant K_ATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

Boodhansingh KE, Kandasamy B, Mitteer L, Givler S, De Leon DD, Shyng SL, Ganguly A, Stanley CA. Boodhansingh KE, et al. Am J Med Genet A. 2019 Nov;179(11):2214-2227. doi: 10.1002/ajmg.a.61335. Epub 2019 Aug 28. Am J Med Genet A. 2019. PMID: 31464105 Free PMC article.

2

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P. Bonnefond A, et al. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.

3

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fékété C, de Lonlay P. Bellanné-Chantelot C, et al. J Med Genet. 2010 Nov;47(11):752-9. doi: 10.1136/jmg.2009.075416. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685672

4

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin.

Clark RH, McTaggart JS, Webster R, Mannikko R, Iberl M, Sim XL, Rorsman P, Glitsch M, Beeson D, Ashcroft FM. Clark RH, et al. Science. 2010 Jul 23;329(5990):458-61. doi: 10.1126/science.1186146. Epub 2010 Jul 1. Science. 2010. PMID: 20595581 Free PMC article.

5

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. Männikkö R, et al. Hum Mol Genet. 2010 Mar 15;19(6):963-72. doi: 10.1093/hmg/ddp554. Epub 2009 Dec 18. Hum Mol Genet. 2010. PMID: 20022885 Free PMC article.

6

KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response.

Reyes S, Park S, Johnson BD, Terzic A, Olson TM. Reyes S, et al. Hum Genet. 2009 Dec;126(6):779-89. doi: 10.1007/s00439-009-0731-9. Hum Genet. 2009. PMID: 19685080 Free PMC article.

7

Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

Taneja TK, Mankouri J, Karnik R, Kannan S, Smith AJ, Munsey T, Christesen HB, Beech DJ, Sivaprasadarao A. Taneja TK, et al. Hum Mol Genet. 2009 Jul 1;18(13):2400-13. doi: 10.1093/hmg/ddp179. Epub 2009 Apr 8. Hum Mol Genet. 2009. PMID: 19357197

8

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. 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.

9

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA. Pinney SE, et al. J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414. J Clin Invest. 2008. PMID: 18596924 Free PMC article.

10

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. Lin YW, et al. J Biol Chem. 2008 Apr 4;283(14):9146-56. doi: 10.1074/jbc.M708798200. Epub 2008 Feb 4. J Biol Chem. 2008. PMID: 18250167 Free PMC article.

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