Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Bellanne-Chantelot, C., Saint-Martin, C., Ribeiro, M.-J., Vaury, C., Verkarre, V., Arnoux, J.-B., Valayannopoulos, V., Gobrecht, S., Sempoux, C., Rahier, J., Fournet, J.-C., Jaubert, F., Aigrain, Y., Nihoul-Fekete, C., de Lonlay, P.ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J. Med. Genet. 47: 752-759, 2010. [PubMed: 20685672] [Full Text: https://doi.org/10.1136/jmg.2009.075416\]
  2. 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.Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS One 7: e37423, 2012. Note: Electronic Article. [PubMed: 22701567] [Full Text: https://doi.org/10.1371/journal.pone.0037423\]
  3. Boodhansingh, K. E., Kandasamy, B., Mitteer, L., Givler, S., De Leon, D. D., Shyng, S.-L., Ganguly, A., Stanley, C. A.Novel dominant K(atp) channel mutations in infants with congenital hyperinsulinism: validation by in vitro expression studies and in vivo carrier phenotyping. Am. J. Med. Genet. 179A: 2214-2227, 2019. [PubMed: 31464105] [Full Text: https://doi.org/10.1002/ajmg.a.61335\]
  4. Chandy, K. G., Gutman, G. A.Nomenclature for mammalian potassium channel genes. Trends Pharm. Sci. 14: 434, 1993. [PubMed: 8122319] [Full Text: https://doi.org/10.1016/0165-6147(93)90181-i\]
  5. Clark, R. H., McTaggart, J. S., Webster, R., Mannikko, R., Iberl, M., Sim, X. L., Rorsman, P., Glitsch, M., Beeson, D., Ashcroft, F. M.Muscle dysfunction caused by a K(ATP) channel mutation in neonatal diabetes is neuronal in origin. Science 329: 458-461, 2010. [PubMed: 20595581] [Full Text: https://doi.org/10.1126/science.1186146\]
  6. Colombo, C., Delvecchio, M., Zecchino, C., Faienza, M. F., Cavallo, L., Barbetti, F., Early Onset Study Group of the Italian Society of Paediatric Endocrinology and Diabetology.Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. (Letter) Diabetologia 48: 2439-2441, 2005. [PubMed: 16205880] [Full Text: https://doi.org/10.1007/s00125-005-1958-1\]
  7. de Lonlay, P., Fournet, J.-C., Rahier, J., Gross-Morand, M.-S., Poggi-Travert, F., Foussier, V., Bonnefont, J.-P., Brusset, M.-C., Brunelle, F., Robert, J.-J., Nihoul-Fekete, C., Saudubray, J.-M., Junien, C.Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J. Clin. Invest. 100: 802-807, 1997. [PubMed: 9259578] [Full Text: https://doi.org/10.1172/JCI119594\]
  8. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes for BioMedical Research.Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316: 1331-1336, 2007. [PubMed: 17463246] [Full Text: https://doi.org/10.1126/science.1142358\]
  9. Flanagan, S. E., Edghill, E. L., Gloyn, A. L., Ellard, S., Hattersley, A. T.Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 49: 1190-1197, 2006. [PubMed: 16609879] [Full Text: https://doi.org/10.1007/s00125-006-0246-z\]
  10. Girard, C. A., Wunderlich, F. T., 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., Bruning, J. C., Ashcroft, F. M.Expression of an activating mutation in the gene encoding the K(ATP) channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes. J. Clin. Invest. 119: 80-90, 2009. [PubMed: 19065048] [Full Text: https://doi.org/10.1172/JCI35772\]
  11. Gloyn, A. L., Cummings, E. A., Edghill, E. L., Harries, L. W., Scott, R., Costa, T., Temple, I. K., Hattersley, A. T., Ellard, S.Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J. Clin. Endocr. Metab. 89: 3932-3935, 2004. [PubMed: 15292329] [Full Text: https://doi.org/10.1210/jc.2004-0568\]
  12. Gloyn, A. L., Diatloff-Zito, C., Edghill, E. L., Bellanne-Chantelot, C., Nivot, S., Coutant, R., Ellard, S., Hattersley, A. T., Robert, J. J.KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Europ. J. Hum. Genet. 14: 824-830, 2006. [PubMed: 16670688] [Full Text: https://doi.org/10.1038/sj.ejhg.5201629\]
  13. Gloyn, A. L., Pearson, E. R., Antcliff, J. F., Proks, P., Bruining, G. J., Slingerland, A. S., Howard, N., Srinivasan, S., Silva, J. M. C. L., Molnes, J., Edghill, E. L., Frayling, T. M., and 13 others.Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New Eng. J. Med. 350: 1838-1849, 2004. Note: Erratum: New Eng. J. Med. 351: 1470 only, 2004. [PubMed: 15115830] [Full Text: https://doi.org/10.1056/NEJMoa032922\]
  14. Gloyn, A. L., Reimann, F., Girard, C., Edghill, E. L., Proks, P., Pearson, E. R., Temple, I. K., Mackay, D. J. G., Shield, J. P. H., Freedenberg, D., Noyes, K., Ellard, S., Ashcroft, F. M., Gribble, F. M., Hattersley, A. T.Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum. Molec. Genet. 14: 925-934, 2005. [PubMed: 15718250] [Full Text: https://doi.org/10.1093/hmg/ddi086\]
  15. Gloyn, A. L., Siddiqui, J., Ellard, S.Mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum. Mutat. 27: 220-231, 2006. [PubMed: 16416420] [Full Text: https://doi.org/10.1002/humu.20292\]
  16. Gupta, R. K., Vatamaniuk, M. Z., Lee, C. S., Flaschen, R. C., Fulmer, J. T., Matschinsky, F. M., Duncan, S. A., Kaestner, K. H.The MODY1 gene HNF-4-alpha regulates selected genes involved in insulin secretion. J. Clin. Invest. 115: 1006-1015, 2005. [PubMed: 15761495] [Full Text: https://doi.org/10.1172/JCI22365\]
  17. Hani, E. H., Boutin, P., Durand, E., Inoue, H., Permutt, M. A., Velho, G., Froguel, P.Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of type II diabetes mellitus in Caucasians. Diabetologia 41: 1511-1515, 1998. [PubMed: 9867219] [Full Text: https://doi.org/10.1007/s001250051098\]
  18. Hansen, S. K., Nielsen, E.-M. D., Ek, J., Andersen, G., Glumer, C., Carstensen, B., Mouritzen, P., Drivsholm, T., Borch-Johnsen, K., Jorgensen, T., Hansen, T., Pedersen, O.Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes. J. Clin. Endocr. Metab. 90: 3629-3637, 2005. [PubMed: 15797964] [Full Text: https://doi.org/10.1210/jc.2004-1942\]
  19. Henwood, M. J., Kelly, A., MacMullen, C., Bhatia, P., Ganguly, A., Thornton, P. S., Stanley, C. A.Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. J. Clin. Endocr. Metab. 90: 789-794, 2005. [PubMed: 15562009] [Full Text: https://doi.org/10.1210/jc.2004-1604\]
  20. Inagaki, N., Gonoi, T., Clement, J. P., IV, Wang, C.-Z., Aguilar-Bryan, L., Bryan, J., Seino, S.A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K(+) channels. Neuron 16: 1011-1017, 1996. [PubMed: 8630239] [Full Text: https://doi.org/10.1016/s0896-6273(00)80124-5\]
  21. Inagaki, N., Gonoi, T., Clement, J. P., Namba, N., Inazawa, J., Gonzalez, G., Aguilar-Bryan, L., Seino, S., Bryan, J.Reconstitution of I(KATP): an inward rectifier subunit plus the sulfonylurea receptor. Science 270: 1166-1170, 1995. [PubMed: 7502040] [Full Text: https://doi.org/10.1126/science.270.5239.1166\]
  22. Koster, J. C., Cadario, F., Peruzzi, C., Colombo, C., Nichols, C. G., Barbetti, F.The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J. Clin. Endocr. Metab. 93: 1054-1061, 2008. [PubMed: 18073297] [Full Text: https://doi.org/10.1210/jc.2007-1826\]
  23. Koster, J. C., Marshall, B. A., Ensor, N., Corbett, J. A., Nichols, C. G.Targeted overactivity of beta cell KATP channels induces profound neonatal diabetes. Cell 100: 645-654, 2000. [PubMed: 10761930] [Full Text: https://doi.org/10.1016/s0092-8674(00)80701-1\]
  24. Laukkanen, O., Pihlajamaki, J., Lindstrom, J., Eriksson, J., Valle, T. T., Hamalainen, H., Ilanne-Patrikka, P., Keinanen-Kiukaanniemi, S., Tuomilehto, J., Uusitupa, M., Laakso, M., Finnish Diabetes Prevention Study Group.Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. J. Clin. Endocr. Metab. 89: 6286-6290, 2004. [PubMed: 15579791] [Full Text: https://doi.org/10.1210/jc.2004-1204\]
  25. Lin, Y.-W., Bushman, J. D., Yan, F.-F., Haidar, S., MacMullen, C., Ganguly, A., Stanley, C. A., Shyng, S.-L.Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. J. Biol. Chem. 283: 9146-9156, 2008. [PubMed: 18250167] [Full Text: https://doi.org/10.1074/jbc.M708798200\]
  26. Mannikko, R., Jefferies, C., Flanagan, S. E., Hattersley, A., Ellard, S., Ashcroft, F. M.Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. Hum. Molec. Genet. 19: 963-972, 2010. [PubMed: 20022885] [Full Text: https://doi.org/10.1093/hmg/ddp554\]
  27. Marthinet, E., Bloc, A., Oka, Y., Tanizawa, Y., Wehrle-Haller, B., Bancila, V., Dubuis, J.-M., Philippe, J., Schwitzgebel, V. M.Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. J. Clin. Endocr. Metab. 90: 5401-5406, 2005. [PubMed: 15998776] [Full Text: https://doi.org/10.1210/jc.2005-0202\]
  28. Massa, O., Iafusco, D., D'Amato, E., Gloyn, A. L., Hattersley, A. T., Pasquino, B., Tonini, G., Dammacco, F., Zanette, G., Meschi, F., Porzio, O., Bottazzo, G., Crino, A., Lorini, R., Cerutti, F., Vanelli, M., Barbetti, F.KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum. Mutat. 25: 22-27, 2005. [PubMed: 15580558] [Full Text: https://doi.org/10.1002/humu.20124\]
  29. Miki, T., Tashiro, F., Iwanaga, T., Nagashima, K., Yoshitomi, H., Aihara, H., Nitta, Y., Gonoi, T., Inagaki, N., Miyazaki, J., Seino, S.Abnormalities of pancreatic islets by targeted expression of a dominant-negative K(ATP) channel. Proc. Nat. Acad. Sci. 94: 11969-11973, 1997. [PubMed: 9342346] [Full Text: https://doi.org/10.1073/pnas.94.22.11969\]
  30. Nestorowicz, A., Inagaki, N., Gonoi, T., Schoor, K. P., Wilson, B. A., Glaser, B., Landau, H., Stanley, C. A., Thornton, P. S., Seino, S., Permutt, M. A.A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 46: 1743-1748, 1997. [PubMed: 9356020] [Full Text: https://doi.org/10.2337/diab.46.11.1743\]
  31. Pinney, S. E., MacMullen, C., Becker, S., Lin, Y.-W., Hanna, C., Thornton, P., Ganguly, A., Shyng, S.-L., Stanley, C. A.Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant K(ATP) channel mutations. J. Clin. Invest. 118: 2877-2886, 2008. [PubMed: 18596924] [Full Text: https://doi.org/10.1172/JCI35414\]
  32. Proks, P., Antcliff, J. F., Lippiat, J., Gloyn, A. L., Hattersley, A. T., Ashcroft, F. M.Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc. Nat. Acad. Sci. 101: 17539-17544, 2004. [PubMed: 15583126] [Full Text: https://doi.org/10.1073/pnas.0404756101\]
  33. Proks, P., Girard, C., Ashcroft, F. M.Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum. Molec. Genet. 14: 2717-2726, 2005. [PubMed: 16087682] [Full Text: https://doi.org/10.1093/hmg/ddi305\]
  34. Reyes, S., Park, S., Johnson, B. D., Terzic, A., Olson, T. M.K(ATP) channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response. Hum. Genet. 126: 779-789, 2009. [PubMed: 19685080] [Full Text: https://doi.org/10.1007/s00439-009-0731-9\]
  35. Ribalet, B., John, S. A., Weiss, J. N.Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. Biophys. J. 84: 266-276, 2003. [PubMed: 12524280] [Full Text: https://doi.org/10.1016/S0006-3495(03)74847-4\]
  36. Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L., Erdos, M. R., Stringham, H. M., Chines, P. S., Jackson, A. U., Prokunina-Olsson, L., Ding, C.-J., and 29 others.A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316: 1341-1345, 2007. [PubMed: 17463248] [Full Text: https://doi.org/10.1126/science.1142382\]
  37. Shimomura, K., Horster, F., de Wet, H., Flanagan, S. E., Ellard, S., Hattersley, A. T., Wolf, N. I., Ashcroft, F., Ebinger, F.A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology 69: 1342-1349, 2007. [PubMed: 17652641] [Full Text: https://doi.org/10.1212/01.wnl.0000268488.51776.53\]
  38. Slingerland, A. S., Hattersley, A. T.Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. J. Clin. Endocr. Metab. 91: 2782-2788, 2006. [PubMed: 16636122] [Full Text: https://doi.org/10.1210/jc.2006-0201\]
  39. Taneja, T. K., Mankouri, J., Karnik, R., Kannan, S., Smith, A. J., Munsey, T., Christesen, H. B. T., Beech, D. J., Sivaprasadarao, A.Sar1-GTPase-dependent ER exit of K(ATP) channels revealed by a mutation causing congenital hyperinsulinism. Hum. Molec. Genet. 18: 2400-2413, 2009. [PubMed: 19357197] [Full Text: https://doi.org/10.1093/hmg/ddp179\]
  40. Thomas, P. M., Cote, G. J., Hallman, D. M., Mathew, P. M.Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 56: 416-421, 1995. [PubMed: 7847376]
  41. Thomas, P., Ye, Y., Lightner, E.Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum. Molec. Genet. 5: 1809-1812, 1996. [PubMed: 8923010] [Full Text: https://doi.org/10.1093/hmg/5.11.1809\]
  42. Tornovsky, S., Crane, A., Cosgrove, K. E., Hussain, K., Lavie, J., Heyman, M., Nesher, Y., Kuchinski, N., Ben-Shushan, E., Shatz, O., Nahari, E., Potikha, T., and 11 others.Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. J. Clin. Endocr. Metab. 89: 6224-6234, 2004. [PubMed: 15579781] [Full Text: https://doi.org/10.1210/jc.2004-1233\]
  43. Yamada, K., Ji, J. J., Yuan, H., Miki, T., Sata, S., Horimoto, N., Shimizu, T., Seino, S., Inagaki, N.Protective role of ATP-sensitive potassium channels in hypoxia-induced generalized seizure. Science 292: 1543-1546, 2001. [PubMed: 11375491] [Full Text: https://doi.org/10.1126/science.1059829\]
  44. Yorifuji, T., Nagashima, K., Kurokawa, K., Kawai, M., Oishi, M., Akazawa, Y., Hosokawa, M., Yamada, Y., Inagaki, N., Nakahata, T.The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J. Clin. Endocr. Metab. 90: 3174-3178, 2005. [PubMed: 15784703] [Full Text: https://doi.org/10.1210/jc.2005-0096\]
  45. Zeggini, E., Weedon, M. N., Lindgren, C. M., Frayling, T. M., Elliott, K. S., Lango, H., Timpson, N. J., Perry, J. R. B., Rayner, N. W., Freathy, R. M., Barrett, J. C., Shields, B., and 15 others.Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316: 1336-1341, 2007. Note: Erratum: Science 317: 1036 only, 2007. [PubMed: 17463249] [Full Text: https://doi.org/10.1126/science.1142364\]