KCNJ11

Summary

Gene Symbol: KCNJ11
Description: potassium voltage-gated channel subfamily J member 11
Alias: BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, TNDM3, ATP-sensitive inward rectifier potassium channel 11, beta-cell inward rectifier subunit, inward rectifier K(+) channel Kir6.2, inwardly rectifying potassium channel KIR6.2, potassium channel inwardly rectifing subfamily J member 11, potassium channel, inwardly rectifying subfamily J member 11, potassium inwardly-rectifying channel, subfamily J, member 11
Species: human

Top Publications

  1. pmc Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    Sergey Nejentsev
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK
    Science 324:387-9. 2009
  2. ncbi Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro
    H Sakura
    University Laboratory of Physiology, Oxford, UK
    Diabetologia 39:1233-6. 1996
  3. doi Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies
    Stephanie May Ruchat
    Department of Preventive Medicine, Laval University, Quebec City, QC, Canada
    Acta Diabetol 46:217-26. 2009
  4. pmc Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men
    Alena Stancakova
    Department of Medicine, University of Kuopio and Kuopio University Hospital, Kuopio, Finland
    Diabetes 58:2129-36. 2009
  5. pmc Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry
    Marilyn C Cornelis
    Harvard School of Public Health, Channing Laboratory, Boston, MA 02115, USA
    Ann Intern Med 150:541-50. 2009
  6. ncbi Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes
    Christina Eftychi
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, U K
    Diabetes 53:870-3. 2004
  7. ncbi [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population]
    Zhuo Liu
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 28:124-8. 2006
  8. doi Association of KCNJ11 and ABCC8 genetic polymorphisms with response to repaglinide in Chinese diabetic patients
    Ya yi He
    Department of Endocrinology and Metabolism, The Sixth People s Hospital, Shanghai Jiaotong University, Shanghai 200233, China
    Acta Pharmacol Sin 29:983-9. 2008
  9. pmc The KCNJ11 E23K polymorphism and progression of glycaemia in Southern Chinese: a long-term prospective study
    Chloe Y Y Cheung
    Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong
    PLoS ONE 6:e28598. 2011
  10. pmc Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies
    Sven Pörksen
    Department of Pediatrics, Glostrup Hospital and University of Copenhagen, Copenhagen, Denmark
    BMC Endocr Disord 10:16. 2010

Research Grants

  1. Show Ling Shyng; Fiscal Year: 2016
  2. GATING OF INWARDLY RECTIFYING POTASSIUM CHANNELS
    Zheng Fan; Fiscal Year: 2003
  3. BIOGENESIS AND MATURATION OF INWARD RECTIFIER K CHANNELS
    Kevin Ho; Fiscal Year: 1999
  4. Genetic Markers of GIK Effect in Acute Coronary Syndrome in the IMMEDIATE Trial
    Inga Peter; Fiscal Year: 2012
  5. Alexey V Zaitsev; Fiscal Year: 2015
  6. MYOCARDIAL PERFUSION IN THE HYPERTROPHIED HEART
    ROBERT JAMES BACHE; Fiscal Year: 2010
  7. Siri Atma W Greeley; Fiscal Year: 2014
  8. Potassium Channels as Macromolecular Complexes
    Thomas A Neubert; Fiscal Year: 2013
  9. Structural Mechanisms of Gating in KATP Channels
    Jeremy D Bushman; Fiscal Year: 2011
  10. The Role of Sulfonylurea Receptor 2 Splice Variants in Myocardial Function
    John P Fahrenbach; Fiscal Year: 2011

Detail Information

Publications244 found, 100 shown here

  1. pmc Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    Sergey Nejentsev
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK
    Science 324:387-9. 2009
    ..This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs...
  2. ncbi Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro
    H Sakura
    University Laboratory of Physiology, Oxford, UK
    Diabetologia 39:1233-6. 1996
    ..We therefore conclude that mutations in Kir6.2 are unlikely to be a major cause of NIDDM...
  3. doi Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies
    Stephanie May Ruchat
    Department of Preventive Medicine, Laval University, Quebec City, QC, Canada
    Acta Diabetol 46:217-26. 2009
    ..We analysed 23 SNPs in 9 T2DM genes (CDKAL1, CDKN2B, HHEX/IDE, IGF2BP2, KCNJ11, SLC30A8, TCF2, TCF7L2 and WFS1) in a maximum of 712 men and women from the Quebec Family Study...
  4. pmc Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men
    Alena Stancakova
    Department of Medicine, University of Kuopio and Kuopio University Hospital, Kuopio, Finland
    Diabetes 58:2129-36. 2009
    ..We investigated the effects of 18 confirmed type 2 diabetes risk single nucleotide polymorphisms (SNPs) on insulin sensitivity, insulin secretion, and conversion of proinsulin to insulin...
  5. pmc Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry
    Marilyn C Cornelis
    Harvard School of Public Health, Channing Laboratory, Boston, MA 02115, USA
    Ann Intern Med 150:541-50. 2009
    ..Genome-wide association studies have identified novel type 2 diabetes loci, each of which has a modest impact on risk...
  6. ncbi Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes
    Christina Eftychi
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, U K
    Diabetes 53:870-3. 2004
    ..in the insulin receptor substrate 1 (IRS1) gene, Glu23Lys in the potassium inwardly-rectifying channel gene (KCNJ11), and Pro12Ala in the peroxisome proliferative-activated receptor gamma2 gene (PPARG2)...
  7. ncbi [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population]
    Zhuo Liu
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 28:124-8. 2006
    ..To identify the susceptibility genes of type 2 diabetes in Chinese Han population...
  8. doi Association of KCNJ11 and ABCC8 genetic polymorphisms with response to repaglinide in Chinese diabetic patients
    Ya yi He
    Department of Endocrinology and Metabolism, The Sixth People s Hospital, Shanghai Jiaotong University, Shanghai 200233, China
    Acta Pharmacol Sin 29:983-9. 2008
    The aim of this study was to investigate the association of KCNJ11 E23K and ABCC8 exon16-3T/C with the therapeutic effect of repaglinide in patients with type 2 diabetes.
  9. pmc The KCNJ11 E23K polymorphism and progression of glycaemia in Southern Chinese: a long-term prospective study
    Chloe Y Y Cheung
    Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong
    PLoS ONE 6:e28598. 2011
    The KCNJ11 E23K variant is associated with type 2 diabetes mellitus (T2DM) in cross-sectional studies, but conflicting findings have been reported from prospective studies.
  10. pmc Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies
    Sven Pörksen
    Department of Pediatrics, Glostrup Hospital and University of Copenhagen, Copenhagen, Denmark
    BMC Endocr Disord 10:16. 2010
    ..Furthermore the study aimed at determining whether mutations in KCNJ11, ABCC8, HNF1A, HNF4A or INS are common in AAB negative diabetes.
  11. ncbi KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK
    Eur J Hum Genet 14:824-30. 2006
    Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subunit Kir6.2 (KCNJ11) have recently been shown to be a common cause of permanent neonatal diabetes. Kir6...
  12. ncbi Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the
    A S Slingerland
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, UK
    Diabetologia 49:2559-63. 2006
    Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the K(ATP) channels in pancreatic beta cells are a common cause of neonatal diabetes...
  13. pmc Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
    Sian Ellard
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, EX2 5DW, and Wessex Regional Genetics Labs, Salisbury District Hospital, UK
    Am J Hum Genet 81:375-82. 2007
    Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM)...
  14. ncbi Co-localisation of the Kir6.2/SUR1 channel complex with glucagon-like peptide-1 and glucose-dependent insulinotrophic polypeptide expression in human ileal cells and implications for glycaemic control in new onset type 1 diabetes
    Lotte B Nielsen
    Department of Paediatrics, Glostrup University Hospital, Ndr Ringvej 57, DK 2600 Glostrup, Denmark
    Eur J Endocrinol 156:663-71. 2007
    ..2 subunit, Glu23Lys, exerts a functional impact on glucose-sensing tissues in vivo that may affect the overall glycaemic control in children with new-onset type 1 diabetes...
  15. ncbi Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes
    Christophe A J Girard
    University Laboratory of Physiology, Oxford University, Oxford, OX1 3PT, UK
    Pflugers Arch 453:323-32. 2006
    ..Heterozygous activating mutations in Kir6.2 (KCNJ11) are a common cause of neonatal diabetes (ND). We assessed the functional effects of six novel Kir6...
  16. ncbi Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
    Sarah E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 56:1930-7. 2007
    ..We determined the 6q24 status in 97 patients with TNDM. In patients in whom no abnormality was identified, the KCNJ11 gene and/or ABCC8 gene, which encode the Kir6...
  17. doi The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients with type 2 diabetes
    A Holstein
    First Department of Medicine, Clinic Lippe Detmold, Detmold, Germany
    Horm Metab Res 41:387-90. 2009
    ..We investigated the effects of the E23K variant of KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11) on risk for SH in patients with type 2 diabetes (..
  18. ncbi Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor
    N Inagaki
    Division of Molecular Medicine, Chiba University School of Medicine, Japan
    Science 270:1166-70. 1995
    ..an inwardly rectifying potassium conductance of 76 picosiemens that was sensitive to adenosine triphosphate (ATP) (IKATP) and was inhibited by sulfonylureas and activated by diazoxide...
  19. ncbi Variations in insulin secretion in carriers of the E23K variant in the KIR6.2 subunit of the ATP-sensitive K(+) channel in the beta-cell
    Leen M 't Hart
    Department of Molecular Cell Biology, Leiden University Medical Center, The Netherlands
    Diabetes 51:3135-8. 2002
    ..We conclude that the E23K mutation in the KIR6.2 gene is not associated with detectable alterations in glucose-stimulated insulin secretion in two independent populations from the Netherlands...
  20. ncbi Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    Anna L Gloyn
    Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
    Diabetes 52:568-72. 2003
    The genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion...
  21. ncbi Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years
    Emma L Edghill
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5AX, UK
    Diabetes 53:2998-3001. 2004
    We have recently shown that permanent neonatal diabetes can be caused by activating mutations in KCNJ11 that encode the Kir6.2 subunit of the beta-cell ATP-sensitive K(+) channel...
  22. pmc Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features
    Peter Proks
    University Laboratory of Physiology, Oxford University, Oxford OX1 3PT, United Kingdom
    Proc Natl Acad Sci U S A 101:17539-44. 2004
    ..Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus (PNDM)..
  23. ncbi Relapsing diabetes can result from moderately activating mutations in KCNJ11
    Anna L Gloyn
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, USA
    Hum Mol Genet 14:925-34. 2005
    ..Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6...
  24. ncbi IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do amino acid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?
    A Johansen
    Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Copenhagen, Denmark
    Diabetes Obes Metab 8:75-82. 2006
    ..The objective of this study was to estimate the impact of four selected amino acid polymorphisms -IRS-1 Gly972Arg, Kir6.2 Glu23Lys, HNF-1alpha Ala98Val and PPARgamma2 Pro12Ala in a Danish population of T1DM families...
  25. ncbi Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes
    Annabelle S Slingerland
    Peninsula Medical School, Barrack Road, Exeter EX2 5DW, United Kingdom
    J Clin Endocrinol Metab 91:2782-8. 2006
    ..Activating mutations in Kir6.2 are the major cause of neonatal diabetes and reduce insulin secretion by altering the closure of the beta-cell ATP-sensitive potassium channel in the presence of ATP...
  26. ncbi A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells
    Andrei I Tarasov
    University Laboratory of Physiology, Parks Road, Oxford, OX1 3PT, UK
    Diabetes 55:3075-82. 2006
    ..Gain-of-function mutations in Kir6.2 (KCNJ11), the pore-forming subunit of this channel, cause neonatal diabetes...
  27. pmc Association analysis of type 2 diabetes Loci in type 1 diabetes
    Hui Qi Qu
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
    Diabetes 57:1983-6. 2008
    To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and FTO/RPGRIP1L.
  28. doi Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes
    N Pulizzi
    Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
    Diabetologia 52:825-9. 2009
    ..of this study was to investigate whether there is an interaction between birthweight and common variants in the TCF7L2, HHEX, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B and JAZF1 genes in the risk of developing type 2 diabetes.
  29. doi Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association
    Kazuaki Miyake
    Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan
    J Hum Genet 54:236-41. 2009
    ..We then selected 11 genes, KCNQ1, TCF7L2, CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, HHEX, GCKR, HNF1B, KCNJ11 and PPARG, whose associations with diabetes have already been reported and replicated either in the literature or ..
  30. ncbi The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy
    T Sandal
    aSection for Pathology, The Gade Institute, and bSection for Pediatrics, Department of Clinical Medicine, University of Bergen, Norway
    Clin Genet 75:440-8. 2009
    ..2, which are encoded by the genes ABCC8 and KCNJ11, respectively...
  31. ncbi Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
    P Thomas
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor 48109, USA
    Hum Mol Genet 5:1809-12. 1996
    ..have been identified in individuals affected with familial persistent hyper-insulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder of glucose metabolism which is linked to chromosome 11p15...
  32. ncbi Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM
    H Inoue
    Division of Endocrinology, Diabetes and Metabolism, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Diabetes 46:502-7. 1997
    ..The cloning of the gene encoding the beta-cell inward rectifier Kir6.2 (Bir), a subunit of the beta-cell KATP channel, provided the opportunity to look for mutations in this gene that might ..
  33. ncbi Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor
    S J Tucker
    University Laboratory of Physiology, Oxford, UK
    Nature 387:179-83. 1997
    ..We show here that the primary site at which ATP acts to mediate K-ATP channel inhibition is located on Kir6.2, and that SUR1 is required for sensitivity to sulphonylureas and diazoxide and for activation by Mg-ADP...
  34. ncbi Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients
    Y Yamada
    Department of Metabolism and Clinical Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Diabetes Metab Res Rev 17:213-6. 2001
    ..Because type 2 diabetes is characterized by pancreatic beta-cell insensitivity to glucose, the genes responsible for glucose metabolism and calcium signaling in pancreatic beta-cells are candidate type 2 diabetes susceptibility genes...
  35. ncbi The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes
    Eva Maria D Nielsen
    Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Copenhagen, Denmark
    Diabetes 52:573-7. 2003
    The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2 (KCNJ11) is associated with type 2 diabetes in whites, and a recent in vitro study of the E23K variant suggests that the association to ..
  36. ncbi Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region
    Jose C Florez
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 53:1360-8. 2004
    ..2; encoded by KCNJ11) are adjacent to one another on human chromosome 11...
  37. ncbi Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy
    Jørn V Sagen
    Section of Pediatrics, Department of Clinical Medicine, University of Bergen, N 5021 Bergen, Norway
    Diabetes 53:2713-8. 2004
    ..2. We sequenced the gene encoding Kir6.2 (KCNJ11) in 11 probands with GCK-negative PND...
  38. ncbi Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
    Martine Vaxillaire
    Centre National de la Recherche Scientifique UMR 8090, Institut of Biology and Pasteur Institute, Lille, France
    Diabetes 53:2719-22. 2004
    ..It has very recently been shown that heterozygous activating mutations in the KCNJ11 gene, encoding the Kir6...
  39. ncbi Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes
    Maria J Henwood
    Division of Endocrinology Diabetes, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    J Clin Endocrinol Metab 90:789-94. 2005
    ..These results indicate that some K(ATP) mutations can yield partially functioning channels, including cases of hyperinsulinism that are fully responsive to diazoxide therapy...
  40. ncbi 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
    Olli Laukkanen
    Department of Medicine, University of Kuopio, 70210 Kuopio, Finland
    J Clin Endocrinol Metab 89:6286-90. 2004
    ..2 gene...
  41. ncbi High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation
    Ethel Codner
    Diabetes Care 28:758-9. 2005
  42. ncbi 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
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 90:3174-8. 2005
    ..Known genes in maturity-onset diabetes of the young account for only a fraction of families with dominantly inherited diabetes in Japan. There should be as-yet-unidentified genes that account for the rest of the patients...
  43. ncbi Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
    Anna L Gloyn
    Diabetes Research Laboratories, Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
    Hum Mutat 27:220-31. 2006
    ..It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6...
  44. ncbi 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
    S E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter, EX25DW, UK
    Diabetologia 49:1190-7. 2006
    Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (K(ATP)) channel, cause both permanent and transient neonatal diabetes...
  45. ncbi Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects
    Norihide Yokoi
    Division of Cellular and Molecular Medicine, Kobe University Graduate School of Medicine, Kobe 650 0017, Japan
    Diabetes 55:2379-86. 2006
    ..2 (KCNJ11) and SUR1 (ABCC8) with type 2 diabetes in a Japanese cohort of 2,834 subjects...
  46. ncbi Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers
    Juraj Stanik
    DIABGENE and Diabetes Research Laboratory, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Vlarska 3, SK 833 06 Bratislava, Slovak Republic
    J Clin Endocrinol Metab 92:1276-82. 2007
    Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic beta-cell K(ATP) channel have recently been shown to be the most common cause of permanent neonatal diabetes mellitus (PNDM)...
  47. pmc Genetic prediction of future type 2 diabetes
    Valeriya Lyssenko
    Department of Clinical Sciences, Diabetes and Endocrinology, Lund University, University Hospital Malmo, Malmo, Sweden
    PLoS Med 2:e345. 2005
    ..A number of common variants have been associated with T2D but our knowledge of their ability to predict T2D prospectively is limited...
  48. ncbi SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population
    Yukiko Sakamoto
    Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3 18 15, Kuramoto Cho, Tokushima City, Tokushima 770 8503, Japan
    J Hum Genet 52:781-93. 2007
    Many genetic association studies support a contribution of genetic variants in the KCNJ11-ABCC8 gene locus to type 2 diabetes (T2D) susceptibility in Caucasians...
  49. ncbi KCNJ11 E23K affects diabetes risk and is associated with the disposition index: results of two independent German cohorts
    Antje Fischer
    Department of Clinical Nutrition, German Institute of Human Nutrition, Nuthetal, Germany
    Diabetes Care 31:87-9. 2008
  50. pmc K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study
    Santiago Reyes
    Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, MN, USA
    Hum Genet 123:665-7. 2008
    ..These findings implicate Kir6.2 K23 as a risk factor for adverse subclinical myocardial remodeling, and underscore the significance of cardiac K(ATP) channels within the population...
  51. pmc Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
    Sara E Pinney
    Division of Endocrinology Diabetes, The Children s Hospital of Philadelphia, Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Clin Invest 118:2877-86. 2008
    ..Though most disease-causing mutations of the 2 genes encoding KATP subunits, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been reported...
  52. doi Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies
    C Herder
    Institute for Clinical Diabetes Research, German Diabetes Centre, Leibniz Centre at Heinrich Heine University Düsseldorf, Dusseldorf, Germany
    Horm Metab Res 40:722-6. 2008
    ..05), but not for WFS1, CDKN2A/B, KCNJ11, or EXT2...
  53. pmc Association of the Kir6.2 E23K variant with reduced acute insulin response in African-Americans
    Nicholette D Palmer
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    J Clin Endocrinol Metab 93:4979-83. 2008
    ..2 and SUR1 are expressed in a broad range of tissues, and no contemporary studies have addressed the physiological impact of variants in Hispanic-Americans and African-Americans carefully phenotyped for components of glucose homeostasis...
  54. pmc Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1
    Marcus Winkler
    Department of Pharmacology and Toxicology, Medical Faculty, University of Tubingen, Wilhelmstrasse 56, Tübingen D 72074, Germany
    J Biol Chem 284:6752-62. 2009
    beta-Cell-type K(ATP) channels are octamers assembled from Kir6.2/KCNJ11 and SUR1/ABCC8. Adenine nucleotides play a major role in their regulation. Nucleotide binding to Kir6...
  55. doi Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study
    X Lin
    Discovery Analytics, GlaxoSmithKline, Collegeville, PA, USA
    Diabetologia 52:600-8. 2009
    ....
  56. pmc Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study
    Intissar Ezzidi
    Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia
    BMC Med Genet 10:33. 2009
    ..Our aim was to evaluate the contribution to T2D of five of these established T2D-associated loci in the Arabic population from Tunisia...
  57. pmc Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort
    Jie Wen
    Department of Endocrinology, Shanghai Medical College Fudan University, Shanghai, China
    PLoS ONE 5:e9153. 2010
    ..In the present study, we evaluated the influence of 17 genetic variants from 15 candidate loci, identified in type 2 diabetes GWASs and the metaanalysis, in a Han Chinese cohort...
  58. pmc Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians
    Ganesh Chauhan
    Functional Genomics Unit, Institute of Genomics and Integrative Biology CSIR, Delhi, India
    Diabetes 59:2068-74. 2010
    Common variants in PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 genes have been shown to be associated with type 2 diabetes in European populations by genome-wide association studies...
  59. doi Ethnic difference in patients with type 2 diabetes mellitus in inter-East Asian populations: a systematic review and meta-analysis focusing on gene polymorphism
    Masakazu Takeuchi
    Pharmaceutical Information Science, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, Japan
    J Diabetes 1:255-62. 2009
    ..Therefore, we investigated ethnic differences by focusing on gene polymorphism, possibly related to T2DM in Japanese, Korean, and Chinese subjects...
  60. doi Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals
    Lijuan Yang
    Department of Endocrinology and Metabolism, Peking University People s Hospital, No 11 Xi Zhimen Nan Da Jie Main Street, Xi Cheng District, Beijing, 100044, China
    Mol Biol Rep 39:645-59. 2012
    ..been performed to identify the association between potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene and type 2 diabetes mellitus (T2DM) in East Asian populations, with inconsistent results...
  61. doi The effect of KCNJ11 polymorphism on the risk of type 2 diabetes: a global meta-analysis based on 49 case-control studies
    Bo Gong
    Department of Clinical Laboratory, Shanghai Changning Maternity Infant Health Hospital, Shanghai, People s Republic of China
    DNA Cell Biol 31:801-10. 2012
    Potassium inwardly rectifying channel, subfamily-J, member 11 (KCNJ11) gene encodes Kir6...
  62. doi Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population
    Mustafa Sait Gonen
    Department of Endocrinology, Meram Medical Faculty, Selcuk University, Konya, Turkey
    Arch Med Res 43:317-23. 2012
    ..inwardly, and the SUR1 protein that surrounds it forming the outside part of the channel were encoded by ABCC8 and KCNJ11 genes, respectively...
  63. doi Meta-analysis of association of common variants in the KCNJ11-ABCC8 region with type 2 diabetes
    L J Qin
    College of Life Sciences, Central China Normal University, Wuhan, Hubei, China
    Genet Mol Res 12:2990-3002. 2013
    b>KCNJ11 (potassium inwardly rectifying channel, subfamily J, member 11) and ABCC8 (ATP-binding cassette, subfamily C (CFTR/MRP), member 8) have been studied for association with type 2 diabetes in various ethnic populations with ..
  64. ncbi Molecular biology of adenosine triphosphate-sensitive potassium channels
    L Aguilar-Bryan
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Endocr Rev 20:101-35. 1999
    ..is underscored by the finding that a recessive form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is caused by mutations in KATP channel subunits that result in the loss of channel activity...
  65. ncbi Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53)
    A L Gloyn
    Diabetes Research Laboratories, Nuffield Department of Clinical Medicine, University of Oxford, Radcliffe Infirmary, Oxford, UK
    Diabet Med 18:206-12. 2001
    ..Secondly, novel and previously described variants associated with Type 2 diabetes (SUR1 exon 16-3t, exon 18 T, and Kir6.2 E23K) were investigated in the UKPDS cohort...
  66. ncbi The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia
    Otto Tschritter
    Department of Endocrinology, Metabolism and Pathobiochemistry, Medizinische Klinik, Eberhard Karls Universitat, Tubingen, Germany
    Diabetes 51:2854-60. 2002
    ..Our findings thus confirm its functional relevance for glucose metabolism in humans...
  67. ncbi Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium
    M Curley
    National Diagnostics Centre, National University of Ireland, Galway, Ireland
    Mol Hum Reprod 8:941-5. 2002
    ..05) were still observed. Our results indicate that the major K(ATP) channel expressed in human myometrium is composed of Kir6.1 and SUR2B, and that down-regulation of this channel may facilitate myometrial function during late pregnancy...
  68. ncbi Kir6.2 polymorphisms sensitize beta-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes?
    Michael J Riedel
    Department of Pharmacology, University of Alberta, Edmonton, Alberta, Canada
    Diabetes 52:2630-5. 2003
    ....
  69. pmc Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action
    Ines Barroso
    Incyte, Palo Alto, California, USA
    PLoS Biol 1:E20. 2003
    ..encoding molecules known to primarily influence pancreatic beta-cell function-ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6...
  70. ncbi Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    Anna L Gloyn
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    N Engl J Med 350:1838-49. 2004
    ..2 subunit of this channel (KCNJ11) cause neonatal diabetes.
  71. ncbi KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
    Ornella Massa
    Laboratory of Molecular Endocrinology and Metabolism, The Diabetes Unit, and the Scientific Directorate, Bambino Gesu Pediatric Hospital, Scientific Institute IRCCS, Rome, Italy
    Hum Mutat 25:22-7. 2005
    ..Recently, heterozygous activating mutations of KCNJ11, encoding Kir6...
  72. ncbi Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes
    Sara K Hansen
    Steno Diabetes Center and Hagedorn Research Institute, Niels Steensens Vej 2, DK 2820 Gentofte, Denmark
    J Clin Endocrinol Metab 90:3629-37. 2005
    The separate and combined effects of the PPARG Pro(12)Ala polymorphism and the KCNJ11 Glu(23)Lys polymorphisms on risk of type 2 diabetes were investigated in relatively large-scale, case-control studies...
  73. ncbi Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses
    R M van Dam
    Centre of Nutrition and Health, National Institute for Public Health and the Environment, Bilthoven, The Netherlands
    Diabet Med 22:590-8. 2005
    ..To evaluate the relation between common variants in the ATP-sensitive K+ channel genes and glucose intolerance...
  74. pmc Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions
    Paolo Tammaro
    University Laboratory of Physiology, Oxford University, Oxford, UK
    EMBO J 24:2318-30. 2005
    ..2-F333I mutation, and was abolished by SUR1 mutations that prevent MgATP binding/hydrolysis. Further analysis of F333I heterozygous channels indicated that at least three SUR1 must bind/hydrolyse MgATP to open the mutant K(ATP) channel...
  75. ncbi Saturated and cis/trans unsaturated acyl CoA esters differentially regulate wild-type and polymorphic beta-cell ATP-sensitive K+ channels
    Michael J Riedel
    Department of Pharmacology, University of Alberta, 9 58 Medical Sciences Building, Edmonton, Alberta T6G 2H7, Canada
    Diabetes 54:2070-9. 2005
    ....
  76. ncbi Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP
    Peter Proks
    University Laboratory of Physiology, Oxford University, Parks Road, Oxford OX1 3PT, UK
    Hum Mol Genet 14:2717-26. 2005
    Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6...
  77. ncbi The E23K polymorphism in Kir6.2 gene and coronary heart disease
    Chenling Xiong
    Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China
    Clin Chim Acta 367:93-7. 2006
    ..Their role in coronary heart disease (CHD) has not been evaluated. We hypothesized that the polymorphism would be associated with increased susceptibility to CHD...
  78. ncbi The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-triphosphate-sensitive potassium channel subunit Kir6.2 is associated with an increased risk of secondary failure to sulfonylurea in patients with type 2 diabetes
    Giorgio Sesti
    Dipartimento di Medicina Sperimentale e Clinica, Università Magna Graecia, Viale Europa, località Germaneto, 88100 Catanzaro, Italy
    J Clin Endocrinol Metab 91:2334-9. 2006
    ..Several studies suggest that genetic factors may play a role in the different responses to antidiabetic therapy; however, conclusive evidence is still lacking...
  79. ncbi Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects
    Kenju Shimomura
    University Laboratory of Physiology, Oxford University, Parks Road, Oxford OX1 3PT, UK
    Diabetes 55:1705-12. 2006
    Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K(+) channel (K(ATP) channel), are a common cause of neonatal diabetes...
  80. pmc Combining information from common type 2 diabetes risk polymorphisms improves disease prediction
    Michael N Weedon
    Department of Diabetes Research and Vascular Medicine, Peninsula Medical School, Exeter, United Kingdom
    PLoS Med 3:e374. 2006
    ..The value of analyzing multiple alleles simultaneously is not well studied. This is often because, for any given disease, very few common risk alleles have been confirmed...
  81. ncbi Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension
    Yoshihiro Kokubo
    Division of Preventive Cardiology, National Cardiovascular Center, Suita, Japan
    Hypertens Res 29:611-9. 2006
    ..medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations...
  82. ncbi Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes
    Cristen J Willer
    Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor 48109 2029, USA
    Diabetes 56:256-64. 2007
    ..In the combined data, we replicated association (P < 0.05) for 12 SNPs: PPARG Pro12Ala and His447, KCNJ11 Glu23Lys and rs5210, TNF -857, SLC2A2 Ile110Thr, HNF1A/TCF1 rs2701175 and GE117881_360, PCK1 -232, NEUROD1 ..
  83. ncbi Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population
    B K Koo
    Department of Internal Medicine, Seoul National University College of Medicine, Chongno Gu, Seoul, Korea
    Diabet Med 24:178-86. 2007
    Kir6.2 is found in the pancreatic B-cell, cardiac and skeletal muscle and non-vascular smooth muscle. KCNJ11, encoding Kir6...
  84. ncbi An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes
    Ricard Masia
    Department of Cell Biology and Physiology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Diabetes 56:328-36. 2007
    ....
  85. pmc Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program
    Jose C Florez
    Diabetes Prevention Program Coordinating Center, Biostatistics Center, George Washington University, 6110 Executive Blvd, Suite 750, Rockville, MD 20852, USA
    Diabetes 56:531-6. 2007
    The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently associated with type 2 diabetes...
  86. ncbi Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
    Emma L Edghill
    Department of Molecular Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Barrack Road, Exeter, United Kingdom
    J Clin Endocrinol Metab 92:1773-7. 2007
    Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes...
  87. ncbi Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    Richa Saxena
    Broad Institute of Harvard and Massachusetts Institute of Technology MIT, Cambridge, MA 02142, USA
    Science 316:1331-6. 2007
    ..The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues to the pathogenesis of common diseases...
  88. pmc A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    Laura J Scott
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Science 316:1341-5. 2007
    ..and CDKAL1 and the region of CDKN2A and CDKN2B, and confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are associated with T2D risk. This brings the number of T2D loci now confidently identified to at least 10.
  89. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  90. ncbi Gene-gene interactions between HNF4A and KCNJ11 in predicting Type 2 diabetes in women
    L Qi
    Department of Nutrition, Harvard Medical School of Public Health, Boston, MA 02115, USA
    Diabet Med 24:1187-91. 2007
    ..2 gene (KCNJ11)...
  91. ncbi Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes
    Osama Alsmadi
    Arabian Diagnostic Laboratory ADL, Research Centre, King Faisal Specialist Hospital and Research Centre, and Diabetes Center, King Abdulaziz University Hospital, Riyadh, Saudi Arabia
    Diabetes Metab Res Rev 24:137-40. 2008
    The E23K variant of KCNJ11 has been associated with type 2 diabetes (T2D) in several but not all populations studied. Thus far, despite a high incidence of T2D, the role of this variant in Arabs has not been established.
  92. ncbi Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese population: The Hisayama Study
    Yasufumi Doi
    Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Maidashi 3 1 1, Higashi ku, Fukuoka 812 8582, Japan
    Diabetes 56:2829-33. 2007
    ..2 and diabetes has been reported in Caucasians but not in Asians. We examined this issue in follow-up and cross-sectional studies in a general Japanese population...
  93. ncbi Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study
    Martine Vaxillaire
    UMR8090 and Institute of Biology, Lille 2 University, CNRS and Pasteur Institute, Lille, France
    Diabetes 57:244-54. 2008
    ..However, the relevance of these genes for disease prediction has not been extensively tested...
  94. pmc The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
    Joseph C Koster
    Washington University School of Medicine, Department of Cell Biology and Physiology, Box 8228, St Louis, MO 63110, USA
    J Clin Endocrinol Metab 93:1054-61. 2008
    Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) underlie neonatal diabetes mellitus. In severe cases, Kir6.2 mutations underlie developmental delay, epilepsy, and neonatal diabetes (DEND). All Kir6...
  95. ncbi Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
    Emma L Edghill
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, UK
    Diabetes 57:1034-42. 2008
    ..We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood...
  96. ncbi Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population
    Shintaro Omori
    Laboratory for Diabetic Nephropathy, SNP Research Center, RIKEN, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    Diabetes 57:791-5. 2008
    ....
  97. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 40:638-45. 2008
    ..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D...
  98. pmc The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies
    Stephane Cauchi
    CNRS UMR8090, Institut de Biologie de Lille, Génomique et Physiologie Moléculaire des Maladies Métaboliques, Lille, France
    BMC Med Genet 9:45. 2008
    ....
  99. doi Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population
    Michal Bronstein
    Department of Genetics, The Hebrew University of Jerusalem, 91904, Jerusalem, Israel
    Hum Genet 124:101-4. 2008
    ..Our study, however, strongly supports the robustness of WGA studies for the identification of genes affecting complex traits in general and T2D in particular...
  100. doi Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation
    E D'Amato
    Department of Paediatrics, University of Genoa, IRCCS G Gaslini, Largo Gaslini, Genoa, Italy
    Diabet Med 25:651-6. 2008
    Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (K(ATP)) channel, cause both permanent and transient neonatal diabetes...
  101. pmc Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk
    Hana Lango
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 57:3129-35. 2008
    ..Here, we assess the ability of 18 confirmed type 2 diabetes variants to differentiate between type 2 diabetic case and control subjects...

Research Grants68

  1. Show Ling Shyng; Fiscal Year: 2016
    ..Moreover, it will reveal novel physiological signaling mechanisms that may be exploited to control KATP channel surface expression, thereby glucose-secretion coupling in patients with insulin secretion disease. ..
  2. GATING OF INWARDLY RECTIFYING POTASSIUM CHANNELS
    Zheng Fan; Fiscal Year: 2003
    ....
  3. BIOGENESIS AND MATURATION OF INWARD RECTIFIER K CHANNELS
    Kevin Ho; Fiscal Year: 1999
    ..abstract_text> ..
  4. Genetic Markers of GIK Effect in Acute Coronary Syndrome in the IMMEDIATE Trial
    Inga Peter; Fiscal Year: 2012
    ..IRS1 and IDE), fatty acid metabolism regulation (PRKAA2, PPARA, and PPARG), and potassium channel activity (KCNJ11 and ABCC9) in the heart will be associated with the immediate and long-term response to GIK therapy administered ..
  5. Alexey V Zaitsev; Fiscal Year: 2015
    ..Finally, the relative contributions of IKNa and IKATP in these phenomena will also be investigated in the whole heart (Aim 2) and in isolated myocytes (Aim 3) of dogs...
  6. MYOCARDIAL PERFUSION IN THE HYPERTROPHIED HEART
    ROBERT JAMES BACHE; Fiscal Year: 2010
    ..These studies will characterize responses of myocardial KATP channels that may contribute to the development of CHF in the chronically overloaded heart. ..
  7. Siri Atma W Greeley; Fiscal Year: 2014
    ..The most common genetic cause of diabetes in this group are activating mutations in the gene KCNJ11, encoding the Kir6...
  8. Potassium Channels as Macromolecular Complexes
    Thomas A Neubert; Fiscal Year: 2013
    ..Our findings may have important implications for understanding the role of KATP channels in the heart and coronary vasculature under physiological and non-pathophysiological conditions. ..
  9. Structural Mechanisms of Gating in KATP Channels
    Jeremy D Bushman; Fiscal Year: 2011
    ..Selective drugs will improve alleviation of many disorders caused or ameliorated by the KATP channel. ..
  10. The Role of Sulfonylurea Receptor 2 Splice Variants in Myocardial Function
    John P Fahrenbach; Fiscal Year: 2011
    ..The work from this proposal will shed light on the role of KATP channels in development and cardiac stress. ..
  11. Show Ling Shyng; Fiscal Year: 2016
    ....
  12. CHARLES ALFRED STANLEY; Fiscal Year: 2016
    ..defects of the two adjacent genes on 11p that are responsible for most cases of this form of HI: ABCC8/SUR1 and KCNJ11/Kir6.2...
  13. Role of GLP-1 in Congenital Hyperinsulinism
    DIVA DEL CARMEN DE LEON; Fiscal Year: 2010
    ..abstract_text> ..
  14. EFFECTS OF EPOXYEICOSATRIENOIC ACIDS ON KATP CHANNEL
    Hon Chi Lee; Fiscal Year: 2003
    ..It is believed from preliminary data that 11,12 EET caused a decrease in the ATP binding rate. This will be further explored through analysis of these actions on single KATP channels. ..
  15. William S Yancy; Fiscal Year: 2015
    ..They will also provide cheek tissue samples for genetic testing of TCF7L2, PPARG, and KCNJ11, three genes that confer elevated risk for development of T2DM...
  16. REGULATION OF HEPATIC INSULIN EXTRACTION
    Kenneth S Polonsky; Fiscal Year: 2013
    ..We propose to study the T2DM-associated genes KCNJ11, TCF7L2, KCNQ1, CDKAL1, IGF2BP2 and SLC30A8 since it appears that diabetes-associated variants in these genes ..
  17. Sonia Caprio; Fiscal Year: 2014
    ..specific aims are: Aim 1: A) To examine the relationships between a panel of 16 gene variants (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, HHEX, CDC123/CAMK1D, WFS1, TSPAN8/LGR5, THADA, ADAMTS9) and ..
  18. Electrical Control of Insulin Secretion
    Colin G Nichols; Fiscal Year: 2013
    ..The project makes use of these animals to understand the disease process in a way that is impossible in humans, and thereby helps us to develop appropriate therapies to treat the disease. ..
  19. Hao Wu; Fiscal Year: 2014
    ..The former translocation creates a fusion protein comprising the BIR domains of cIAP2 and the meta-caspase domain of MALT1 and constitutive NF-kB activation...
  20. Epidemiologic Studies of Type 2 Diabetes in Normal Weight Adults
    MERCEDES RENEE CARNETHON; Fiscal Year: 2010
    ..By investigating the presence of an interaction between obesity and established genes for T2DM (PPARG, KCNJ11 and TCF7L2) in association with T2DM, we can begin to unravel the mechanisms by which these candidate genes are ..
  21. Analysis of Fatty Liver in the Framingham Heart Study Cohort
    Elizabeth K Speliotes; Fiscal Year: 2012
    ..She will test whether obesity- or diabetes-associated single nucleotide polymorphisms (SNPs) in the genes INSIG2, KCNJ11, PPARG, and TCF7L2 are independently associated with fatty liver using multivariable regression techniques. B...
  22. DENICE HODGSON-ZINGMAN; Fiscal Year: 2016
    ....
  23. Chunying Du; Fiscal Year: 2016
    ..The BIR repeat containing ubiquitin-conjugating enzyme (BRUCE) is a conserved protein with chimeric ubiquitin-protein ..
  24. Arthur J Lustig; Fiscal Year: 2014
    ..Second, we will use model systems to test whether break-induced replication (BIR) or other mechanisms are involved in the expansion of telomere tracts...
  25. Effects of K+ Accumulation/Depletion in the Heart
    Guy Salama; Fiscal Year: 2013
    ..compared during pharmacological interventions of channels responsible for K+ efflux (IK1, It,o, IK,slow, IKr, IKs, IKATP) and during manipulations of K+ re-uptake via the Na/K pumps...
  26. Conditional knockout mice lacking K(ATP) channel subunits
    William A Coetzee; Fiscal Year: 2010
    ....
  27. GRZEGORZ A IRA; Fiscal Year: 2016
    ..The second assay employs break induced replication (BIR), in which a single DSB end invades a template, followed by extensive leading- and lagging- strand DNA synthesis...
  28. Mechanisms underlie inverse gender discrepancy in ischemic protection
    Nian Qing Shi; Fiscal Year: 2010
    ....
  29. Eukaryotic Telomere Dynamics
    ARTHUR LUSTIG; Fiscal Year: 2009
    ..third aim will test the hypothesis that the regulation of one class of recombination, break-Induced replication (BIR), is the basis of regulation of the novel class of telomere recombinants in mre11A470T cells...
  30. James E Haber; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Break-induced replication (BIR), also called recombination-dependent DNA replication, plays critically important roles both during DNA replication and in the maintenance of telomeres lacking ..
  31. Improving Rate/Quality Limitations in Membrane Protein Structure Determination
    William A Cramer; Fiscal Year: 2010
    ..The atomic structures of membrane proteins is crucial for an understanding of the molecular basis of human diseases and the development of drugs to combat them or ameliorate their consequences. ..
  32. Individual Differences in Incentive Salience Attribution: Relevance to Addiction
    SHELLY BETH FLAGEL; Fiscal Year: 2010
    ..Cross-bred intermediate responders (bIR) behave similarly to commercial rats, with almost equal probability of developing either goal-tracking or sign-..
  33. ANNA L MALKOVA; Fiscal Year: 2016
    ..Preliminary data suggested that break-induced replication (BIR) is the primary mechanism by which chromosomes undergoing BFBs are stabilized, which makes BIR the primary source ..
  34. Lorraine S Symington; Fiscal Year: 2016
    ..invasion into a homologous duplex DNA followed by replication to the chromosome end (break-induced replication, BIR)...
  35. Traumatic Brain Injury Clinical Trials Network
    Ramon Diaz-Arrastia; Fiscal Year: 2012
    ..to be based at Parkland Memorial Hospital (PMH), with the collaboration of the Baylor Institute for Rehabilitation (BIR). Both institutions are nationally recognized for neurosurgical, neurological, and rehabilitation care...
  36. The Mechanism of Telomere Recombination in Yeast
    Courtney L Parke; Fiscal Year: 2013
    ..The central hypothesis is that RTE in yeast is accomplished via the break-induced replication (BIR) pathway and that the mre11-A470T allele induces aberrant telomeric BIR events...
  37. Analysis of Fatty Liver in the Framingham Heart Study Cohort
    ELIZABETH SPELIOTES; Fiscal Year: 2007
    ..We will test whether obesity or diabetes-associated single nucleotide polymorphisms (SNPs) in genes INSIG2, KCNJ11, PPARG, and 7CF7L2 also associate with fatty liver...
  38. The Systems Biology of Sudden Cardiac Death
    BRIAN O ROURKE; Fiscal Year: 2009
    ..Cluster Project 1 will test the hypothesis that metabolic sinks may be formed by producing local regions of IKATP activation in the intact-perfused guinea pig (GP) heart and will assess their impact on ventricular conduction and ..
  39. Development of HTS Assay:PK(ATP)FLIPR Channels (RMI)
    Xinmin Xie; Fiscal Year: 2005
    ..Ultimately, this assay should facilitate the discovery of novel therapeutics for the treatment of obesity and diabetes. ..
  40. CLASS II MHC AND COSTIMULATORY MOLECULES IN ENTEROCYTES
    IAN SANDERSON; Fiscal Year: 1999
    ..epithelial cells, and class 11 MHC molecules will be studied l) in mice infected by reovirus and 2) in the C3H/HeJ Bir mouse IBD model...
  41. Sulfonylurea KATP channels in vascular spasm
    Elizabeth McNally; Fiscal Year: 2009
    ..We will also study the role of cardiac and vascular smooth muscle KATP channels in mediating the response to acute adrenergically mediated stress. ..
  42. Visualization of break-induced replication.
    Anna Malkova; Fiscal Year: 2009
    ..The proposed research will investigate the mechanism of break-induced replication (BIR), a poorly understood DSB repair pathway, which can lead to genetic instability...
  43. TRANSGENIC MOUSE MODEL FOR FAMILIAL HYPERINSULINISM
    Joseph Bryan; Fiscal Year: 2001
    ..that inactivate KATP, or affect its regulation by MgADP, cause persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disease of newborns characterized by high insulin levels despite severe hypoglycemia...
  44. FUNCTIONAL ANALYSIS OF ANTIAPOPTOTIC IAP PROTEINS
    ROLLIE CLEM; Fiscal Year: 2002
    ..A novel sequence motif found only in IAP proteins, the BIR motif, is required for anti- death function, presumably through the ability of different BIR motifs to bind to a ..
  45. Visions: Volunetric Imaging Science
    Steven Moore; Fiscal Year: 2005
    ..in collaboration with the Biomedical Imaging Resource department of the Mayo Clinic in Rochester, Minnesota (BIR)...
  46. SUR Transmembrane Domain in K(ATP) Channel Function
    Robert Harvey; Fiscal Year: 2006
    ..of the two subunits are correlated with the recessive disorder Persistent Hyperinsulinemic Hypoglycemia of infancy (PHHI). Patients with PHHI possess defective pancreatic KATP channels, resulting in unregulated insulin secretion...
  47. Role of Kir6.1 subunits of K+ channels in heart
    WILLIAM COETZEE; Fiscal Year: 2004
    ..1 subunits, and will provide molecular insights into the function of KATP channels in animals during normal and pathophysiological conditions. ..
  48. Mechanism of break-induced replication in yeast
    Anna Malkova; Fiscal Year: 2006
    ..It was recently suggested that a phenomenon called Break-Induced Replication (BIR) is responsible for several cancer-related events, including chromosomal translocations, loss of heterozygosity, ..
  49. CARP, A Novel Cell Death Regulator
    Wafik El Deiry; Fiscal Year: 2006
    ..CARP does not contain a classical BIR domain found in the lAP's but possesses ubiquitin ligase activity mediated by its ring domain...
  50. GLUCOKINASE GENE EXPRESSION IN PANCREATIC BETA CELL
    Mark Magnuson; Fiscal Year: 2005
    ..In Aim 2 we will establish true mouse models for PHHI and MODY-2 in order to correlate changes in enzyme kinetics with insuIin secretion and glucose homeostasis...
  51. Mechanisms and Kinetics of Gating in K Channels
    Decha Enkvetchakul; Fiscal Year: 2005
    ..The information gained will advance understanding of basic mechanisms of ion channel gating, and will be important for the development of more specific therapies for ion channel diseases. ..
  52. TRAFFICKING SIGNALS ON KATP CHANNELS SUBUNITS
    Lydia Aguilar Bryan; Fiscal Year: 2004
    ..can cause a recessive form of neonatal hypoglycemia termed persistent hyperinsulinemic hypoglycemia of infancy, or PHHI. Recent work has shown that both subunits have trafficking signals. SURI and KIR6...
  53. The IAP BIR Domain: A Novel Target for Cancer Therapy
    Michael Wick; Fiscal Year: 2001
    ..goal of the present proposal is to discover small molecule antagonists of IAP function that act by inhibiting the BIR domain of the IAP...
  54. Function of ATP-sensitive Potassium Channels
    Joseph Bryan; Fiscal Year: 2006
    ....
  55. ATP BLOCK SENSITIVE POTASSIUM CHANNELS IN HEART
    Zheng Fan; Fiscal Year: 2000
    ....
  56. Metabolism-excitation coupling in the heart
    Colin Nichols; Fiscal Year: 2005
    ..The work will provide information that will ultimately underlie the development of rational therapies for the treatment of cardiac ischemia and arrhythmias. ..
  57. ABCC8/KCNJ11 Mechanisms and Diabetes
    Andrey P Babenko; Fiscal Year: 2010
    ..Normal ABCC8/KCNJ11-encoded, MgADP-stimulated/ATP-inhibited (SUR1/KIR6...
  58. PATHOPHYSIOLOGY OF NICOTINE IN CEREBRAL BLOOD VESSELS
    J Simard; Fiscal Year: 2004
    ....
  59. PDX-1 Expression and Embryonic Stem Cells
    WILLIAM LOWE; Fiscal Year: 2004
    ..Thus, the proposed studies will address novel ways of promoting the differentiation of ES cells into islets with the ultimate goal of enhancing islet cell transplantation. ..
  60. Human Beta Cell Parameters for Islet Engraftment Success
    Peter Drain; Fiscal Year: 2005
    ..The knowledge from these studies can be applied to improve reliability of clinical engraftments. ..
  61. Diabetes Genes: Maternal Glycemia and Birth Weight
    WILLIAM LOWE; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  62. The international 1q type 2 diabetes consortium
    MARK IAN MCCARTHY; Fiscal Year: 2010
    ..This information will contribute to future diagnostic and therapeutic advances in the clinical management of this condition. ..
  63. Identifying pubertal regulators of Kiss1 expression
    Yee Ming Chan; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  64. Cardioprotective Repair through Cardiopoiesis
    Andre Terzic; Fiscal Year: 2010
    ..abstract_text> ..
  65. Effect of exendin-(9-39) on glucose metabolism in subjects with hyperinsulinism
    DIVA DE LEON; Fiscal Year: 2008
    ..unreadable] [unreadable]..