| 1 | ABCC8, HHF1
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| Molecular Mechanisms of Congenital Hyperinsulinism due to Autosomal Dominant Mutations in ABCC8.
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| Nessa A, Aziz QH, Thomas AM, Harmer SC, Tinker A, Hussain K.
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| Hum Mol Genet um Mol Genet. 2015 Jun 19. pii: ddv233. [Epub ahead of print]
2015
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| 2 | ABCC8, HADH, HHF1, HHF2, HHF4, KCNJ11
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| Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation.
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| 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.
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| Am J Hum Genet 92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.
2013
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| 3 | ABCC8, HHF1, KCNJ11
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| ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
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| 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.
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| J Med Genet 47(11):752-9. Epub 2010 Aug 3.
2010
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| 4 | ABCC8, HHF1, HHF2, KCNJ11
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| 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.
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| Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.
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| Hum Mutat 30(2):170-80. Review.
2009
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| 5 | ABCC8, HHF1, HHF2, KCNJ11
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| Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
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| Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.
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| J Clin Invest 118(8):2877-86. 2008
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| 6 | ABCC8, HHF1
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| Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
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| Yan FF, Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.
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| Diabetes 56(9):2339-48. Epub 2007 Jun 15.
2007
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| 7 | HHF1, HHF2, ABCC8, KCNJ11
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| KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
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| Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanne-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.
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| Eur J Hum Genet [Epub ahead of print] 2006
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| 8 | PNDM2, ABCC8, KCNJ11, HHF1, PHHIF
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| Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
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| Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P.
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| N Engl J Med 355(5):456-66. 2006
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| 9 | HHF1
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| Facial appearance in persistent hyperinsulinemic hypoglycemia.
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| de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fekete C, Rahier J, Junien C, Robert JJ, Saudubray JM.
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| Am J Med Genet 111(2):130-3. 2002
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| 10 | HHF1, HHF2, PHHIF, GLUD1, GCK, HHF6
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| Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
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| Meissner T, et al.
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| Hum Mutat 13(5):351-61. 1999
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| 11 | KCNJ11, HHF1, HHF2
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| Molecular biology of adenosine triphosphate-sensitive potassium channels.
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| Aguilar-Bryan L, et al.
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| Endocr Rev 20(2):101-35. Review. 1999
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| 12 | ABCC8, HHF1
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| The C terminus of SUR1 is required for trafficking of KATP channels.
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| Sharma N, Crane A, Clement JP 4th, Gonzalez G, Babenko AP, Bryan J, Aguilar-Bryan L.
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| J Biol Chem 274(29):20628-32 1999
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| 13 | HHF1, ABCC8
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| Genetic heterogeneity in familial hyperinsulinism.
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| Nestorowicz A, et al.
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| Hum Mol Genet 7 : 1119-1128. 1998
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| 14 | HHF1, ABCC8
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| Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
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| Shyng SL, et al.
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| Diabetes 47 : 1145-1151. 1998
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| 15 | ABCC8, HHF1, PHHIF
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| Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor.
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| Dunne MJ, et al.
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| N Engl J Med 336 : 703-706. 1997
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| 16 | HHF1, ABCC8, USH1C
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| Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.
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| Ayyagari R, et al.
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| Genome Res 6 : 504-514. 1996
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| 17 | HHF1, ABCC8
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| Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
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| Thomas PM, et al.
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| Am J Hum Genet 59 : 510-518. 1996
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| 18 | HHF1, ABCC8
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| Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
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| Nestorowicz A, et al.
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| Hum Mol Genet 5 : 1813-1822. 1996
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| 19 | HHF1, HHF2
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| Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.
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| Thomas PM, Cote GJ, Hallman DM, Mathew PM.
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| Am J Hum Genet 56 : 416-421. 1995
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| 20 | HHF1
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| Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.
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| Glaser B, et al.
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| Hum Mol Genet 4 : 879-886. 1995
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| 21 | HHF1, ABCC8
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| Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
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| Thomas PM, et al.
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| Science 268 : 426-429. 1995
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| 22 | HHF1, HHF2
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| Familial hyperinsulinism maps to chromosome 11p14-p15.1, 30 cM centromeric to the insulin gene.
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| Glaser B, et al.
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| Nat Genet 7 : 185-188. 1994
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