| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Akiko Saito-Hakoda, Tohru Yorifuji, Junko Kanno, Shigeo Kure, Ikuma Fujiwar. Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. vol 21. issue 3. 2013-08-08. PMID:23926410. |
therefore, long-term follow-up and periodic ogtts are important for early detection of insulin dysregulation in congenital hyperinsulinism patients carrying the abcc8 mutation, even though hypoglycemia resolves spontaneously during infancy. |
2013-08-08 |
2023-08-12 |
Not clear |
| O Oztekin, E Durmaz, S Kalay, S E Flanagan, S Ellard, I Birca. Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene. Journal of perinatology : official journal of the California Perinatal Association. vol 32. issue 8. 2013-05-29. PMID:22842804. |
we report on a term female neonate with a novel missense mutation, p.p1199l, in the abcc8 gene that encodes the sulfonylurea receptor 1 whose treatment was successfully converted from insulin to sulfonylurea. |
2013-05-29 |
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 |
| Nora Nikolac, Ana-Maria Simundic, Andrea Saracevic, Darko Katalini. ABCC8 polymorphisms are associated with triglyceride concentration in type 2 diabetics on sulfonylurea therapy. Genetic testing and molecular biomarkers. vol 16. issue 8. 2013-01-14. PMID:22533711. |
sulfonylureas act as insulin secretagogues by binding to the sulfonylurea receptor (sur-1) encoded by the gene abcc8. |
2013-01-14 |
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 |
| Banu Kücükemre Aydin, Rüveyde Bundak, Firdevs Baş, Hülya Maraş, Nurçin Saka, Hülya Günöz, Feyza Darendelile. Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up. Journal of clinical research in pediatric endocrinology. vol 4. issue 2. 2012-10-19. PMID:22672870. |
here, we report the long-term follow-up results of two siblings with pndm who were treated with insulin until abcc8 gene mutation was identified, and were successfully transferred to oral su therapy. |
2012-10-19 |
2023-08-12 |
Not clear |
| Maria Pietrzak-Nowacka, Krzysztof Safranow, Agnieszka Bińczak-Kuleta, Jacek Rózański, Kazimierz Ciechanowski, Andrzej Ciechanowic. Association of C49620T ABCC8 polymorphism with anthropometric and metabolic parameters in patients with autosomal dominant polycystic kidney disease: a preliminary study. Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia. vol 32. issue 2. 2012-08-20. PMID:22466262. |
the aim of the study was to evaluate an association between the c49620t abcc8 gene polymorphism and anthropometric, biochemical parameters, pancreatic β-cell function and insulin sensitivity among autosomal dominant polycystic kidney disease (adpkd) patients. |
2012-08-20 |
2023-08-12 |
Not clear |
| P Klee, C Bellanné-Chantelot, G Depret, J P Llano, C Paget, M Nicolin. A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation. Diabetes & metabolism. vol 38. issue 2. 2012-07-09. PMID:22326206. |
activating abcc8 mutations lead to decreased insulin secretion and to diabetes. |
2012-07-09 |
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 |
| Chloe Miu Mak, Ching-yin Lee, Ching-wan Lam, Wai-Kwan Siu, Vanessa Ching-ngar Hung, Albert Yan-wo Cha. Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 21. issue 1. 2012-06-05. PMID:22306677. |
personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating abcc8 mutation. |
2012-06-05 |
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 |
| 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 |
| 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 |