| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Inas H Thomas, Natinder K Saini, Amita Adhikari, Joyce M Lee, Josephine Z Kasa-Vubu, Delia M Vazquez, Ram K Menon, Ming Chen, Stefan S Fajan. Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatric diabetes. vol 10. issue 7. 2010-02-01. PMID:19496967. |
permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in kcnj11 or abcc8, inactivating mutations in ins, or very rarely in gck or insulin promotor factor-1 (ipf-1) genes. |
2010-02-01 |
2023-08-12 |
human |
| A Hartemann-Heurtier, A Simon, C Bellanné-Chantelot, R Reynaud, H Cavé, M Polak, M Vaxillaire, A Grimald. Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes. Diabetes & metabolism. vol 35. issue 3. 2009-09-17. PMID:19342262. |
we describe here a rather different phenotype: two cases of adult diabetic patients-considered and treated as insulin-dependent diabetic patients since adolescence-who, in fact, turned out to be heterozygous for an abcc8 mutation and able to successfully discontinue insulin while taking sulphonylurea treatment. |
2009-09-17 |
2023-08-12 |
Not clear |
| D A Chistiakov, V A Potapov, D C Khodirev, M S Shamkhalova, M V Shestakova, V V Nosiko. Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes. Acta diabetologica. vol 46. issue 1. 2009-05-18. PMID:18758683. |
the kcnj11 and abcc8 genes encode the components of the pancreatic atp-sensitive potassium (katp) channel, which regulates insulin secretion by beta-cells and hence could be involved in the pathogenesis of type 2 diabetes (t2d). |
2009-05-18 |
2023-08-12 |
Not clear |
| D A Chistiakov, V A Potapov, D C Khodirev, M S Shamkhalova, M V Shestakova, V V Nosiko. Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes. Acta diabetologica. vol 46. issue 1. 2009-05-18. PMID:18758683. |
the g/g genotype of abcc8 was also significantly associated with increased both fasting and 2 h serum insulin in diabetic and non-diabetic patients. |
2009-05-18 |
2023-08-12 |
Not clear |
| D A Chistiakov, V A Potapov, D C Khodirev, M S Shamkhalova, M V Shestakova, V V Nosiko. Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes. Acta diabetologica. vol 46. issue 1. 2009-05-18. PMID:18758683. |
the kcnj11 e23k and abcc8 exon 31 variants contribute to susceptibility to t2d diabetes, glucose intolerance and altered insulin secretion in a russian population. |
2009-05-18 |
2023-08-12 |
Not clear |
| Sarah E Flanagan, Séverine Clauin, Christine Bellanné-Chantelot, Pascale de Lonlay, Lorna W Harries, Anna L Gloyn, Sian Ellar. 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. Human mutation. vol 30. issue 2. 2009-04-10. PMID:18767144. |
it has been known for some time that loss of function mutations in kcnj11, which encodes for kir6.2, and abcc8, which encodes for sur1, can cause oversecretion of insulin and result in hyperinsulinism of infancy, while activating mutations in kcnj11 and abcc8 have recently been described that result in the opposite phenotype of diabetes. |
2009-04-10 |
2023-08-12 |
Not clear |
| Ewan R Pearso. Pharmacogenetics and future strategies in treating hyperglycaemia in diabetes. Frontiers in bioscience (Landmark edition). vol 14. 2009-04-07. PMID:19273354. |
an aetiological approach has identified monogenic patients with diabetes due to tcf1 mutations who are particularly sensitive to the hypoglycaemic effects of sulphonylureas, and kcnj11 or abcc8 mutations in which sulphonylureas can be used in place of insulin treatment. |
2009-04-07 |
2023-08-12 |
Not clear |
| Ritika R Kapoor, Chela James, Khalid Hussai. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nature clinical practice. Endocrinology & metabolism. vol 5. issue 2. 2009-03-09. PMID:19165222. |
congenital hh is caused by mutations in genes involved in regulation of insulin secretion, seven of which have been identified (abcc8, kcnj11, glud1, cgk, hadh, slc16a1 and hnf4a). |
2009-03-09 |
2023-08-12 |
Not clear |
| Sarah E Flanagan, Sian Ellar. Identification of mutations in the Kir6.2 subunit of the K(ATP) channel. Methods in molecular biology (Clifton, N.J.). vol 491. 2009-02-26. PMID:18998097. |
loss of function mutations in the kcnj11 and abcc8 genes that encode for kir6.2 and sur1 can cause over-secretion of insulin and result in hyperinsulinism of infancy, while gain of function mutations in kcnj11 and abcc8 have recently been described that result in the opposite phenotype of diabetes.genetic testing is important for patients with hyperinsulinism or neonatal diabetes, as identification of a k(atp) channel mutation confirms a diagnosis of their disorder. |
2009-02-26 |
2023-08-12 |
Not clear |
| J Koehn, M Fountoulakis, K Krapfenbaue. Multiple drug resistance associated with function of ABC-transporters in diabetes mellitus: molecular mechanism and clinical relevance. Infectious disorders drug targets. vol 8. issue 2. 2008-11-10. PMID:18537706. |
abcc8 is a subunit of the pancreatic beta-cell k(atp) channel and plays a key role in the regulation of glucose-induced insulin secretion. |
2008-11-10 |
2023-08-12 |
human |
| Isabelle Flechtner, Martine Vaxillaire, Hélène Cavé, Raphael Scharfmann, Philippe Froguel, Michel Pola. Neonatal hyperglycaemia and abnormal development of the pancreas. Best practice & research. Clinical endocrinology & metabolism. vol 22. issue 1. 2008-05-22. PMID:18279778. |
the very recently elucidated mutations in kcnj11 and abcc8 genes, encoding the kir6.2 and sur1 subunits of the pancreatic k(atp) channel involved in regulation of insulin secretion, account for a third to a half of the pndm cases. |
2008-05-22 |
2023-08-12 |
Not clear |
| Isabelle Flechtner, Martine Vaxillaire, Hélène Cavé, Raphael Scharfmann, Philippe Froguel, Michel Pola. Neonatal hyperglycaemia and abnormal development of the pancreas. Best practice & research. Clinical endocrinology & metabolism. vol 22. issue 1. 2008-05-22. PMID:18279778. |
some patients (those with mutations in kcnj11 and abcc8) may be transferred from insulin therapy to sulphonylureas. |
2008-05-22 |
2023-08-12 |
Not clear |
| C G Nichols, J C Koster, M S Remed. beta-cell hyperexcitability: from hyperinsulinism to diabetes. Diabetes, obesity & metabolism. vol 9 Suppl 2. 2008-03-31. PMID:17919182. |
consistent with this paradigm, loss-of-function mutations in the genes (kcnj11 and abcc8) that encode the two subunits (kir6.2 and sur1, respectively) of the atp-sensitive k(+) (k(atp)) channel underlie hyperinsulinism in humans, a genetic disorder characterized by dysregulated insulin secretion. |
2008-03-31 |
2023-08-12 |
mouse |
| I Flechtner, M Vaxillaire, H Cavé, P Froguel, M Pola. [Neonatal diabetes: a disease linked to multiple mechanisms]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. vol 14. issue 11. 2008-01-24. PMID:17931842. |
among those, the very recently elucidated mutations in kcnj11 and abcc8 gene, encoding the kir6.2 and sur1 subunit of the pancreatic k(atp) channel involved in regulation of insulin secretion accounts for one third to a half of the pndm cases. |
2008-01-24 |
2023-08-12 |
Not clear |
| I Flechtner, M Vaxillaire, H Cavé, P Froguel, M Pola. [Neonatal diabetes: a disease linked to multiple mechanisms]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. vol 14. issue 11. 2008-01-24. PMID:17931842. |
this analysis also has potentially important therapeutic consequences leading to transfer some patients, those with mutations in kcnj11 and abcc8 from insulin therapy to sulfonylureas. |
2008-01-24 |
2023-08-12 |
Not clear |
| T O Kilpeläinen, T A Lakka, D E Laaksonen, O Laukkanen, J Lindström, J G Eriksson, T T Valle, H Hämäläinen, S Aunola, P Ilanne-Parikka, S Keinänen-Kiukaanniemi, J Tuomilehto, M Uusitupa, M Laaks. Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes. Physiological genomics. vol 31. issue 2. 2007-12-13. PMID:17636114. |
single nucleotide polymorphisms (snps) in two genes regulating insulin secretion, slc2a2 (encoding glut2) and abcc8 (encoding sur1), were associated with the conversion from impaired glucose tolerance (igt) to type 2 diabetes (t2d) in the finnish diabetes prevention study (dps). |
2007-12-13 |
2023-08-12 |
human |
| T O Kilpeläinen, T A Lakka, D E Laaksonen, O Laukkanen, J Lindström, J G Eriksson, T T Valle, H Hämäläinen, S Aunola, P Ilanne-Parikka, S Keinänen-Kiukaanniemi, J Tuomilehto, M Uusitupa, M Laaks. Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes. Physiological genomics. vol 31. issue 2. 2007-12-13. PMID:17636114. |
we conclude that moderate-to-vigorous pa may modify the risk of developing t2d associated with genes regulating insulin secretion (slc2a2, abcc8) in persons with igt. |
2007-12-13 |
2023-08-12 |
human |
| b' Michel Polak, H\\xc3\\xa9l\\xc3\\xa8ne Cav\\xc3\\xa. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet journal of rare diseases. vol 2. 2007-11-06. PMID:17349054.' |
among these, the very recently elucidated mutations in the kcnj11 and abcc8 genes, encoding the kir6.2 and sur1 subunit of the pancreatic katp channel involved in regulation of insulin secretion, account for one third to half of the pndm cases. |
2007-11-06 |
2023-08-12 |
Not clear |
| b' Michel Polak, H\\xc3\\xa9l\\xc3\\xa8ne Cav\\xc3\\xa. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet journal of rare diseases. vol 2. 2007-11-06. PMID:17349054.' |
this analysis also has potentially important therapeutic consequences leading to transfer some patients, those with mutations in kcnj11 and abcc8 genes, from insulin therapy to sulfonylureas. |
2007-11-06 |
2023-08-12 |
Not clear |
| Juraj Stanik, Daniela Gasperikova, Magdalena Paskova, Lubomir Barak, Jana Javorkova, Emilia Jancova, Miriam Ciljakova, Peter Hlava, Jozef Michalek, Sarah E Flanagan, Ewan Pearson, Andrew T Hattersley, Sian Ellard, Iwar Klime. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. The Journal of clinical endocrinology and metabolism. vol 92. issue 4. 2007-09-17. PMID:17213273. |
prevalence of permanent neonatal diabetes in slovakia and successful replacement of insulin with sulfonylurea therapy in kcnj11 and abcc8 mutation carriers. |
2007-09-17 |
2023-08-12 |
Not clear |