Citations for
1ABCC8, HHF1
Molecular Mechanisms of Congenital Hyperinsulinism due to Autosomal Dominant Mutations in ABCC8.
Nessa A, Aziz QH, Thomas AM, Harmer SC, Tinker A, Hussain K.
Hum Mol Genet um Mol Genet. 2015 Jun 19. pii: ddv233. [Epub ahead of print] 2015
2ABCC8
Human pancreas endocrine cell populations and activating ABCC8 mutations.
Busiah K, Verkarre V, Cavé H, Scharfmann R, Polak M.
Horm Res Paediatr 82(1):59-64. doi: 10.1159/000360004. Epub 2014 Jun 14. 2014
3ABCC8
ABCC8 genetic variants and risk of diabetes mellitus.
Haghverdizadeh P, Sadat Haerian M, Haghverdizadeh P, Sadat Haerian B.
Gene 545(2):198-204. doi: 10.1016/j.gene.2014.04.040. Epub 2014 Apr 21. Review. 2014
4ABCC8, HADH, HHF1, HHF2, HHF4, KCNJ11
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.
Am J Hum Genet 92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27. 2013
5ABCC8, ANK2, CAMK2A, CAMK2D, KCNJ11, SPTBN4
βIV-Spectrin and CaMKII facilitate Kir6.2 regulation in pancreatic beta cells.
Kline CF, Wright PJ, Koval OM, Zmuda EJ, Johnson BL, Anderson ME, Hai T, Hund TJ, Mohler PJ.
Proc Natl Acad Sci U S A 110(43):17576-81. doi: 10.1073/pnas.1314195110. Epub 2013 Oct 7. 2013
6ABCC8, TRPM4
The sulfonylurea receptor 1 (Sur1)-transient receptor potential melastatin 4 (Trpm4) channel.
Woo SK, Kwon MS, Ivanov A, Gerzanich V, Simard JM.
J Biol Chem 288(5):3655-67. doi: 10.1074/jbc.M112.428219. Epub 2012 Dec 19. 2013
7ABCC8, TRPM4
On potential interactions between non-selective cation channel TRPM4 and sulfonylurea receptor SUR1.
Sala-Rabanal M, Wang S, Nichols CG.
J Biol Chem 287(12):8746-56. doi: 10.1074/jbc.M111.336131. Epub 2012 Jan 30. 2012
8ABCC8
Heterozygous ABCC8 mutations are a cause of MODY.
Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S.
Diabetologia 55(1):123-7. doi: 10.1007/s00125-011-2319-x. Epub 2011 Oct 12. 2012
9ABCC8, PNDM2
Two neonatal diabetes mutations on transmembrane helix 15 of SUR1 increase affinity for ATP and ADP at nucleotide binding domain 2.
Ortiz D, Voyvodic P, Gossack L, Quast U, Bryan J.
J Biol Chem 287(22):17985-95. doi: 10.1074/jbc.M112.349019. Epub 2012 Mar 27. 2012
10ABCC8, HHIF
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S.
Clin Genet 79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x. 2011
11ABCC8, INPP5J, KCNJ11
N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2.
Pratt EB, Tewson P, Bruederle CE, Skach WR, Shyng SL.
J Gen Physiol 137(3):299-314. doi: 10.1085/jgp.201010557. Epub 2011 Feb 14. 2011
12ABCC8
Brief suppression of Abcc8 prevents autodestruction of spinal cord after trauma.
Simard JM, Woo SK, Norenberg MD, Tosun C, Chen Z, Ivanova S, Tsymbalyuk O, Bryan J, Landsman D, Gerzanich V.
Sci Transl Med 2(28):28ra29. 2010
13ABCC8, HHF1, KCNJ11
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.
J Med Genet 47(11):752-9. Epub 2010 Aug 3. 2010
14ABCC8, HHF1, HHF2, KCNJ11
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.
Hum Mutat 30(2):170-80. Review. 2009
15ABCC8, PNDM2
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 9(7):648-54. Epub 2008 May 23. 2008
16ABCC8, HHF1, HHF2, KCNJ11
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.
J Clin Invest 118(8):2877-86. 2008
17ABCC8,PNDM2
Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects.
Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM.
Am J Hum Genet 81(2):375-82. Epub 2007 Jun 29. 2007
18ABCC8, KCNJ11
SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population.
Sakamoto Y, Inoue H, Keshavarz P, Miyawaki K, Yamaguchi Y, Moritani M, Kunika K, Nakamura N, Yoshikawa T, Yasui N, Shiota H, Tanahashi T, Itakura M.
J Hum Genet 52(10):781-93. Epub 2007 Sep 6. 2007
19ABCC8
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 104(48):18988-92. Epub 2007 Nov 19. 2007
20ABCC8, PNDM2
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
Masia R, De Leon DD, MacMullen C, McKnight H, Stanley CA, Nichols CG.
Diabetes 56(5):1357-62. Epub 2007 Feb 22. 2007
21ABCC8, HHF1
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
Yan FF, Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.
Diabetes 56(9):2339-48. Epub 2007 Jun 15. 2007
22ABCC8, ABCC9
ABCC8 and ABCC9: ABC transporters that regulate K+ channels.
Bryan J, Muńoz A, Zhang X, Düfer M, Drews G, Krippeit-Drews P, Aguilar-Bryan L.
Pflugers Arch 453(5):703-18. Epub 2006 Aug 8. Review. 2007
23HHF1, HHF2, ABCC8, KCNJ11
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanne-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.
Eur J Hum Genet [Epub ahead of print] 2006
24ABCC8
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 15(11):1793-800. Epub 2006 Apr 13. 2006
25PNDM2, ABCC8, KCNJ11, HHF1, PHHIF
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P.
N Engl J Med 355(5):456-66. 2006
26WRS, EIF2AK3, SLC19A2, TRMA, FRDA, FXN, ABCC8
Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
Porter JR, Barrett TG.
J Med Genet 42(12):893-902. Epub 2005 Mar 16. 2005
27KCNJ11, ABCC8, HHF2
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
Tammaro P, Girard C, Molnes J, Njolstad PR, Ashcroft FM.
EMBO J 24(13):2318-30. Epub 2005 Jun 16. 2005
28LIH, ABCC8
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA.
J Clin Endocrinol Metab 89(9):4450-6. 2004
29ABCC8, KCNJ11
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B.
J Clin Endocrinol Metab 89(12):6224-34. 2004
30ABCC8, PHHIF
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L, Stanley CA.
Diabetes 52(9):2403-10. 2003
31ABCC8
Sulfonylurea receptor -1 (SUR1): genetic and metabolic evidences for a role in the susceptibility to type 2 diabetes mellitus.
Reis AF, Velho G.
Diabetes Metab 28(1):14-9. 2002
32ABCC8, KCNJ11, NUCB2, OR7E14P, PIK3C2A, RPS13
Mapping of genes and transcribed sequences in a gene rich 400-kb region on human chromosome 11p15.1-->p14.
Caldwell GM, Eddy RL, Day CD, Haley LH, Cooper PR, Sait SS, Hejtmancik F, Smith RJ, Morton CC, Higgins MJ, Shows TB.
Cytogenet Cell Genet 92(1-2):103-7. 2001
33ABCC8
Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians.
Reis AF, Ye WZ, Dubois-Laforgue D, Bellanne-Chantelot C, Timsit J, Velho G.
Hum Genet 107(2):138-44. 2000
34ABCC8, ABCC9, KCNJ11, KCNJ8
The molecular basis of the specificity of action of K(ATP) channel openers.
Moreau C, Jacquet H, Prost AL, D'hahan N, Vivaudou M.
EMBO J 19(24):6644-6651. 2000
35ABCC8, KCNJ11, USH1C
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B.
Nat Genet 26(1):56-60. 2000
36ABCC8
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.
Glaser B, et al.
Hum Mutat 14(1):23-9. 1999
37ABCC8, PHHIF
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.
Glaser B, et al.
Diabetes 48(8):1652-7 1999
38ABCC8, HHF1
The C terminus of SUR1 is required for trafficking of KATP channels.
Sharma N, Crane A, Clement JP 4th, Gonzalez G, Babenko AP, Bryan J, Aguilar-Bryan L.
J Biol Chem 274(29):20628-32 1999
39HHF1, ABCC8
Genetic heterogeneity in familial hyperinsulinism.
Nestorowicz A, et al.
Hum Mol Genet 7 : 1119-1128. 1998
40HHF1, ABCC8
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
Shyng SL, et al.
Diabetes 47 : 1145-1151. 1998
41ABCC8
Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans : SUR-1 gene variant and hyperinsulinemia.
Goksel DL, et al.
Hum Genet 103 : 280-285. 1998
42ABCC8, SDHC
A human succinate-ubiquinone oxidoreductase CII-3 subunit gene ending in a polymorphic dinucleotide repeat is located within the sulfonylurea receptor (SUR) gene.
Wohllk N, et al.
Mol Genet Metab 65 : 187-190. 1998
43ABCC8
Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.
Fournet JC, et al.
Ann Endocrinol (Paris) 59(6):485-91. 1998
44ABCC8, HHF1, PHHIF
Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor.
Dunne MJ, et al.
N Engl J Med 336 : 703-706. 1997
45ABCC8, ABCC9
The mitochondrial sulfonylurea receptor : identification and characterization.
Szewczyk A, et al.
Biochem Biophys Res Commun 230 : 611-615. 1997
46ABCC8
Genetic studies of the sulfonylurea receptor gene locus in NIDDM and in morbid obesity among French Caucasians.
Hani EH, et al.
Diabetes 46 : 688-694. 1997
47KCNJ11, ABCC8, D11S902, D11S921
Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese.
Iwasaki N, et al.
Diabetes 45 : 267-269. 1996
48NIDDM10, ABCC8
Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians.
Inoue H, et al.
Diabetes 45 : 825-831. 1996
49HHF1, ABCC8, USH1C
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.
Ayyagari R, et al.
Genome Res 6 : 504-514. 1996
50HHF1, ABCC8
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
Thomas PM, et al.
Am J Hum Genet 59 : 510-518. 1996
51HHF1, ABCC8
Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
Nestorowicz A, et al.
Hum Mol Genet 5 : 1813-1822. 1996
52NIDDM10, ABCC8
Linkage studies in NIDDM with markers near the sulphonylurea receptor gene.
Stirling B, et al.
Diabetologia 38 : 1479-1481. 1995
53KCNJ11, ABCC8
Reconstitution of I KATP : an inward rectifier subunit plus the sulfonylurea receptor.
Inagaki N, et al.
Science 270 : 1166-1170. 1995
54HHF1, ABCC8
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
Thomas PM, et al.
Science 268 : 426-429. 1995
55ABCC8
Cloning of the beta cell high-affinity sulfonylurea receptor : a regulator of insulin secretion.
Aguilar-Bryan L, et al.
Science 268 : 423-426. 1995