| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Maria Al-Mahdi, Angham Al Mutair, Mohammed Al Balwi, Khalid Hussai. Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene. Annals of Saudi medicine. vol 30. issue 2. 2010-06-04. PMID:20220270. |
we describe a 3-year-old girl with permanent neonatal diabetes mellitus with a mutation in the kcnj11 gene (r201h), who was successfully transferred from subcutaneous insulin to oral glibenclamide, with a marked improvement in glycemic control. |
2010-06-04 |
2023-08-12 |
Not clear |
| Daizhan Zhou, Di Zhang, Yun Liu, Teng Zhao, Zhuo Chen, Zhe Liu, Lan Yu, Zuofeng Zhang, He Xu, Lin H. The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population. Journal of human genetics. vol 54. issue 7. 2010-02-16. PMID:19498446. |
the genes (abcc8 and kcnj11) have a key role in glucose-stimulated insulin secretion and thus have always been considered as excellent susceptibility candidates for involvement in type 2 diabetes. |
2010-02-16 |
2023-08-12 |
Not clear |
| 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 |
| Janani Kumaraguru, Sarah E Flanagan, Siri Atma W Greeley, Roos Nuboer, Julie Støy, Louis H Philipson, Andrew T Hattersley, Oscar Rubio-Cabeza. Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes care. vol 32. issue 8. 2009-10-26. PMID:19435956. |
research design and methods a total of 67 patients with a known kcnj11 mutation who had been successfully transferred from insulin injections onto oral sulfonylureas were contacted and asked about the development of tooth discoloration after transfer. |
2009-10-26 |
2023-08-12 |
Not clear |
| Thais Della Manna, Claudilene Battistim, Vanessa Radonsky, Roberta D Savoldelli, Durval Damiani, Fernando Kok, Ewan R Pearson, Sian Ellard, Andrew T Hattersley, André F Rei. Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. Arquivos brasileiros de endocrinologia e metabologia. vol 52. issue 8. 2009-10-07. PMID:19169493. |
we report on the attempted transfer of insulin therapy to glibenclamide in a 4-year old child with pndm and dend syndrome, bearing a c166y mutation in kcnj11. |
2009-10-07 |
2023-08-12 |
Not clear |
| X Xiao, T Wang, W Li, H Song, C Gong, C Diao, M Yu, T Yuan, Y Zhang, X Sun, Q Zhang, K Lu, H Wang, O Schmitz, T Hanse. Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme. vol 41. issue 7. 2009-09-14. PMID:19247925. |
transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a kcnj11 r201h mutation. |
2009-09-14 |
2023-08-12 |
Not clear |
| Stephanie-May Ruchat, Cathy E Elks, Ruth J F Loos, Marie-Claude Vohl, S John Weisnagel, Tuomo Rankinen, Claude Bouchard, Louis Péruss. Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies. Acta diabetologica. vol 46. issue 3. 2009-09-03. PMID:19082521. |
we confirmed the significant associations of variants in cdkal1, cdkn2b, hhex/ide, kcnj11 and tcf7l2 with insulin secretion and also found associations of some of these variants with insulin sensitivity and glucose tolerance. |
2009-09-03 |
2023-08-12 |
human |
| Stephanie-May Ruchat, Cathy E Elks, Ruth J F Loos, Marie-Claude Vohl, S John Weisnagel, Tuomo Rankinen, Claude Bouchard, Louis Péruss. Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies. Acta diabetologica. vol 46. issue 3. 2009-09-03. PMID:19082521. |
diabetes-associated variants in cdkal1, cdkn2b, hhex/ide, igf2bp2, kcnj11, slc30a8 and tcf7l2 are associated with physiological alterations leading to t2dm, such as glucose intolerance, impaired insulin secretion or insulin resistance, supporting their role in the disease aetiology. |
2009-09-03 |
2023-08-12 |
human |
| W Fujimoto, T Miki, T Ogura, M Zhang, Y Seino, L S Satin, H Nakaya, S Sein. Niflumic acid-sensitive ion channels play an important role in the induction of glucose-stimulated insulin secretion by cyclic AMP in mice. Diabetologia. vol 52. issue 5. 2009-07-29. PMID:19266181. |
we have previously reported that glucose-stimulated insulin secretion (gsis) is induced by glucagon-like peptide-1 (glp-1) in mice lacking atp-sensitive k(+) (k(atp)) channels (kir6.2(-/-) mice [up-to-date symbol for kir6.2 gene is kcnj11]), in which glucose alone does not trigger insulin secretion. |
2009-07-29 |
2023-08-12 |
mouse |
| Mette Høj Lauridsen, Trine Welløv Boesgaard, Oluf Borbye Pedersen, Torben Hansen, Birgitte Hert. [Diabetes in infants may be treated with sulfonylurea as a replacement for insulin]. Ugeskrift for laeger. vol 171. issue 23. 2009-06-24. PMID:19500515. |
she carried a kcnj11 arg201his mutation, an activating mutation in the kcnj11-gene which encodes the atp-sensitive potassium subunit kir6.2 in the beta cell which is responsible for insulin secretion. |
2009-06-24 |
2023-08-12 |
Not clear |
| Verena M Wagner, Britta Kremke, Olaf Hiort, Sarah E Flanagan, Ewan R Pearso. Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy. European journal of pediatrics. vol 168. issue 3. 2009-05-27. PMID:18548275. |
transition from insulin to sulfonylurea in a child with diabetes due to a mutation in kcnj11 encoding kir6.2--initial and long-term response to sulfonylurea therapy. |
2009-05-27 |
2023-08-12 |
Not clear |
| Verena M Wagner, Britta Kremke, Olaf Hiort, Sarah E Flanagan, Ewan R Pearso. Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy. European journal of pediatrics. vol 168. issue 3. 2009-05-27. PMID:18548275. |
sulfonylurea (su) treatment restores insulin secretion in patients with kcnj11 mutations. |
2009-05-27 |
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 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 |
| Panagiotis Christopoulos, George Mastorakos, Maria Gazouli, Dimitrios Panidis, Efthimios Deligeoroglou, Ilias Katsikis, Konstantinos Papadias, Evanthia Diamandi-Kandarakis, George Creatsa. Genetic variants in TCF7L2 and KCNJ11 genes in a Greek population with polycystic ovary syndrome. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology. vol 24. issue 9. 2009-01-28. PMID:18958766. |
in addition, there were no associations observed between hormone levels and insulin resistance in pcos carriers of tcf7l2 rs7903146 and kcnj11 e23k variants. |
2009-01-28 |
2023-08-12 |
human |
| Andrew A Bremer, Sayali Ranadive, Robert H Lusti. Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide. Pediatric diabetes. vol 9. issue 3 Pt 1. 2008-08-07. PMID:18221420. |
outpatient transition of an infant with permanent neonatal diabetes due to a kcnj11 activating mutation from subcutaneous insulin to oral glyburide. |
2008-08-07 |
2023-08-12 |
Not clear |