| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| K Busiah, L Vaivre-Douret, C Yachi, H Cavé, M Pola. [Early onset diabetes mellitus]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. vol 20 Suppl 4. 2014-09-04. PMID:24360362. |
patients with mutations in abcc8 or kcnj11 genes had developmental delay with or without epilepsy but also developmental coordination disorder (particularly visual-spatial dyspraxia) or attention deficits in all of those who underwent in-depth neuropsychomotor investigations. |
2014-09-04 |
2023-08-12 |
Not clear |
| Rochelle N Naylor, Siri Atma W Greeley, Graeme I Bell, Louis H Philipso. Genetics and pathophysiology of neonatal diabetes mellitus. Journal of diabetes investigation. vol 2. issue 3. 2014-06-24. PMID:24843477. |
ndm as a result of mutations in kcnj11 and abcc8 often responds to sulfonylureas, allowing transition from insulin therapy. |
2014-06-24 |
2023-08-13 |
Not clear |
| Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battagli. Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism. PloS one. vol 8. issue 7. 2014-03-05. PMID:23869231. |
the genetic causes of chi have been found in genes regulating insulin secretion from pancreatic β-cells; recessive inactivating mutations in the abcc8 and kcnj11 genes represent the most common events. |
2014-03-05 |
2023-08-12 |
Not clear |
| Yu-Wen Lin, Anlong Li, Valeria Grasso, Domenica Battaglia, Antonino Crinò, Carlo Colombo, Fabrizio Barbetti, Colin G Nichol. Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression. PloS one. vol 8. issue 5. 2013-12-17. PMID:23667671. |
gain of channel function (gof) mutations in the genes encoding kir6.2 (kcnj11) or the associated regulatory ssulfonylurea receptor 1 subunit (abcc8), cause developmental delay, epilepsy and neonatal diabetes (dend) due to suppressed cell excitability in pancreatic β-cells and neurons. |
2013-12-17 |
2023-08-12 |
Not clear |
| Roopa Kanakatti Shankar, Catherine Pihoker, Lawrence M Dolan, Debra Standiford, Angela Badaru, Dana Dabelea, Beatriz Rodriguez, Mary Helen Black, Giuseppina Imperatore, Andrew Hattersley, Sian Ellard, Lisa K Gillia. Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. Pediatric diabetes. vol 14. issue 3. 2013-11-25. PMID:23050777. |
mutations in katp channel genes (kcnj11, abcc8) and the insulin gene (ins) are the most common causes of pndm. |
2013-11-25 |
2023-08-12 |
Not clear |
| S Jahnavi, V Poovazhagi, V Mohan, D Bodhini, P Raghupathy, A Amutha, P Suresh Kumar, P Adhikari, M Shriraam, T Kaur, A K Das, J Molnes, P R Njolstad, R Unnikrishnan, V Radh. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clinical genetics. vol 83. issue 5. 2013-09-23. PMID:22831748. |
we sequenced kcnj11, abcc8 and insulin (ins) genes in 33 unrelated indian probands with onset of diabetes below one year of age. |
2013-09-23 |
2023-08-12 |
Not clear |
| S Jahnavi, V Poovazhagi, V Mohan, D Bodhini, P Raghupathy, A Amutha, P Suresh Kumar, P Adhikari, M Shriraam, T Kaur, A K Das, J Molnes, P R Njolstad, R Unnikrishnan, V Radh. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clinical genetics. vol 83. issue 5. 2013-09-23. PMID:22831748. |
children carrying the kcnj11 (cys42arg, arg201cys) and abcc8 (val86ala, asp212tyr) mutations have been successfully switched over from insulin therapy to oral sulfonylurea. |
2013-09-23 |
2023-08-12 |
Not clear |
| Senthil Senniappan, Balasubramaniam Shanti, Chela James, Khalid Hussai. Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. Journal of inherited metabolic disease. vol 35. issue 4. 2013-02-05. PMID:22231386. |
the molecular basis of hh involves defects in key genes (abcc8, kcnj11, glud1, gck, hadh, slc16a1, hnf4a and ucp2) which regulate insulin secretion. |
2013-02-05 |
2023-08-12 |
Not clear |
| Veronica Lang, Peter E Ligh. The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes. Pharmacogenomics and personalized medicine. vol 3. 2012-12-12. PMID:23226049. |
in the pancreatic β-cell, k(atp) channel activity couples glucose metabolism to insulin secretion via cellular excitability and mutations in either kcnj11 or abcc8 genes alter k(atp) channel activity, leading to faulty insulin secretion. |
2012-12-12 |
2023-08-12 |
Not clear |
| Veronica Lang, Peter E Ligh. The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes. Pharmacogenomics and personalized medicine. vol 3. 2012-12-12. PMID:23226049. |
many ndm patients with kcnj11 and abcc8 mutations can be successfully treated with sulfonylureas (sus) that inhibit the k(atp) channel, thus replacing the need for daily insulin injections. |
2012-12-12 |
2023-08-12 |
Not clear |
| Małgorzata Wajda-Cuszlag, Daniel Witkowski, Elżbieta Piontek, Marta Wysocka-Mincewicz, Maciej Borowiec, Wojciech Młynarski, Mieczysław Szaleck. [Glucokinase gene mutation as a causative factor of permanent neonatal diabetes mellitus]. Pediatric endocrinology, diabetes, and metabolism. vol 18. issue 1. 2012-06-07. PMID:22525692. |
one of them is neonatal diabetes identified within the first 6 months of life and often associated with the mutation in kcnj11, abcc8 or insulin gene. |
2012-06-07 |
2023-08-12 |
Not clear |
| Siri Atma W Greeley, Rochelle N Naylor, Louis H Philipson, Graeme I Bel. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Current diabetes reports. vol 11. issue 6. 2012-05-11. PMID:21993633. |
the most common causes accounting for the majority of cases are mutations in the genes encoding the two subunits of the atp-sensitive potassium channel (k(atp)), kcnj11 and abcc8, and the insulin gene (ins), as well as abnormalities in chromosome 6q24. |
2012-05-11 |
2023-08-12 |
Not clear |
| Siri Atma W Greeley, Rochelle N Naylor, Louis H Philipson, Graeme I Bel. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Current diabetes reports. vol 11. issue 6. 2012-05-11. PMID:21993633. |
patients with activating mutations in kcnj11 and abcc8 can be treated with oral sulfonylureas in lieu of insulin injections. |
2012-05-11 |
2023-08-12 |
Not clear |
| Nicole Ruiz, Luis F Pacheco, Bianca Farrell, Cody B Cox, Boris S Ermolinsky, Emilio R Garrido-Sanabria, Saraswathy Nai. Metabolic gene expression changes in the hippocampus of obese epileptic male rats in the pilocarpine model of temporal lobe epilepsy. Brain research. vol 1426. 2012-03-05. PMID:22050960. |
we determined the expression levels of genes hsd11b1, nr3c1, abcc8, kcnj11, mc4r, npy, lepr, bdnf, and drd2 that are involved in regulation of energy metabolism, in the hippocampus of age-matched control and chronic epileptic animals. |
2012-03-05 |
2023-08-12 |
rat |
| Sylvie Tenoutasse, Harry Dorch. [Neonatal diabetes: a case of pancreatic beta cell agenesis and a 38-year follow-up of a permanent neonatal diabetes mellitus]. Revue medicale de Bruxelles. vol 31. issue 2 Suppl. 2011-09-27. PMID:21812222. |
understanding of physiopathology increased this last decade, as many mutations in genes playing critical roles in the development of pancreas, have been described: the most common are chromosome 6q anomalies in the case of tnd, and mutations in kcnj11 and abcc8 genes encoding the subunit of the insulin cell potassium channel in the case of pnd. |
2011-09-27 |
2023-08-12 |
Not clear |
| Anders Molven, Pål R Njølsta. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert review of molecular diagnostics. vol 11. issue 3. 2011-07-21. PMID:21463240. |
the majority of neonatal diabetes cases are caused by mutations in the k(atp) channel genes abcc8 and kcnj11, and sulfonylurea therapy is then usually superior to insulin. |
2011-07-21 |
2023-08-12 |
Not clear |
| Courtney M Macmullen, Qing Zhou, Kara E Snider, Paul H Tewson, Susan A Becker, Ali Rahim Aziz, Arupa Ganguly, Show-Ling Shyng, Charles A Stanle. Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1. Diabetes. vol 60. issue 6. 2011-07-11. PMID:21536946. |
congenital hyperinsulinemic hypoglycemia is a group of genetic disorders of insulin secretion most commonly associated with inactivating mutations of the β-cell atp-sensitive k(+) channel (k(atp) channel) genes abcc8 (sur1) and kcnj11 (kir6.2). |
2011-07-11 |
2023-08-12 |
Not clear |
| Siri Atma W Greeley, Priya M John, Aaron N Winn, Joseph Ornelas, Rebecca B Lipton, Louis H Philipson, Graeme I Bell, Elbert S Huan. The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes. Diabetes care. vol 34. issue 3. 2011-06-08. PMID:21273495. |
nearly half of patients with permanent neonatal diabetes have mutations in the genes for the atp-sensitive potassium channel (kcnj11 and abcc8) that allow switching from insulin to sulfonylurea therapy. |
2011-06-08 |
2023-08-12 |
Not clear |
| Philippa D Powell, Christine Bellanné-Chantelot, Sarah E Flanagan, Sian Ellard, Raoul Rooman, Khalid Hussain, Mars Skae, Peter Clayton, Pascale de Lonlay, Mark J Dunne, Karen E Cosgrov. In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. Diabetes. vol 60. issue 4. 2011-06-06. PMID:21411514. |
congenital hyperinsulinism in infancy (chi) is characterized by unregulated insulin secretion from pancreatic β-cells; severe forms are associated with defects in abcc8 and kcnj11 genes encoding sulfonylurea receptor 1 (sur1) and kir6.2 subunits, which form atp-sensitive k(+) (k(atp)) channels in β-cells. |
2011-06-06 |
2023-08-12 |
Not clear |
| Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Frogue. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PloS one. vol 5. issue 10. 2011-03-07. PMID:21049026. |
accurate molecular diagnosis of monogenic non-autoimmune neonatal diabetes mellitus (ndm) is critical for patient care, as patients carrying a mutation in kcnj11 or abcc8 can be treated by oral sulfonylurea drugs instead of insulin therapy. |
2011-03-07 |
2023-08-12 |
Not clear |