| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Chiara Russo, Alessandro Salina, Concetta Aloi, Dario Iafusco, Renata Lorini, Giuseppe d'Annunzi. Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea. Diabetes research and clinical practice. vol 94. issue 2. 2012-03-12. PMID:21871684. |
mother and daughter carrying the same kcnj11 mutation but with a different response to switching from insulin to sulfonylurea. |
2012-03-12 |
2023-08-12 |
Not clear |
| Chiara Russo, Alessandro Salina, Concetta Aloi, Dario Iafusco, Renata Lorini, Giuseppe d'Annunzi. Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea. Diabetes research and clinical practice. vol 94. issue 2. 2012-03-12. PMID:21871684. |
we report a 18-month follow-up of switching from insulin to su in a mother and her daughter with pndm due to kcnj11 mutation. |
2012-03-12 |
2023-08-12 |
Not clear |
| Jennifer A Wambach, Bess A Marshall, Joseph C Koster, Neil H White, Colin G Nichol. Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation. Pediatric diabetes. vol 11. issue 4. 2012-01-12. PMID:19656320. |
a k(atp) mutation (r201h; kcnj11) was detected in the infant, the mother, and 6-yr-old sister with pndm; both were also subsequently transitioned off insulin onto glyburide. |
2012-01-12 |
2023-08-12 |
Not clear |
| Y Wang, X O Zhou, Y Zhang, P J Gao, D L Zh. Association of KCNJ11 with impaired glucose regulation in essential hypertension. Genetics and molecular research : GMR. vol 10. issue 2. 2011-09-30. PMID:21710463. |
these findings provided evidence that the kcnj11 gene plays a role in the pathogenesis of decreased insulin sensitivity in essential hypertension patients. |
2011-09-30 |
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 |
| Francisco Nieves-Rivera, Lilliam González-Pije. Neonatal diabetes mellitus: description of two Puerto Rican children with KCNJ11 activating gene mutation. Puerto Rico health sciences journal. vol 30. issue 2. 2011-08-30. PMID:21682153. |
genetic testing identified the presence of the de nova v59m and e322k activating mutations in the kcnj11 gene encoding the sulphonylurea/potassium channel (kir6.2 subunit) of the insulin beta cell. |
2011-08-30 |
2023-08-12 |
Not clear |
| Marcio F Vendramini, Lucimary C Gurgel, Regina S Moisé. Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene. Arquivos brasileiros de endocrinologia e metabologia. vol 54. issue 8. 2011-08-08. PMID:21340152. |
to report the long-term (30-month) effect of the switch from insulin to sulfonylurea in a patient carrying the p.g53d (c.158g>a) mutation in kcnj11 gene. |
2011-08-08 |
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 |
| b' Milo\\xc5\\xa1 M Je\\xc5\\xa1i\\xc4\\x87, Maja D Je\\xc5\\xa1i\\xc4\\x87, Svjetlana Maglajli\\xc4\\x87, Silvija Saji\\xc4\\x87, Svetislav Neci\\xc4\\x8. Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation. Diabetes research and clinical practice. vol 91. issue 1. 2011-05-05. PMID:21056492.' |
we describe a female neonate who is a heterozygous for a new missense mutation, v252l, in the kcnj11 gene and who has been successfully transitioned from insulin to sulfonylurea therapy. |
2011-05-05 |
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 |
| Irene Lambrinoudaki, Sophia A Vlachou, George Creatsa. Genetics in gestational diabetes mellitus: association with incidence, severity, pregnancy outcome and response to treatment. Current diabetes reviews. vol 6. issue 6. 2011-02-24. PMID:20879971. |
these genes include glucokinase (gck), hla antigens, insulin receptor (insr), insulin-like growth factor-2 (igf2), hnf4a, insulin gene (ins-vntr), plasminogen activator inhibitor 1 (pai-1), potassium inwardly rectifying channel subfamily j, member 11 (kcnj11), hepatocyte nuclear factor-4a (hnf4a). |
2011-02-24 |
2023-08-12 |
Not clear |
| Ali Mohamadi, Loretta M Clark, Paul H Lipkin, E Mark Mahone, Ericka L Wodka, Leslie P Plotnic. Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. Pediatric diabetes. vol 11. issue 3. 2010-10-05. PMID:19686306. |
medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate dend syndrome: extending the age of kcnj11 mutation testing in neonatal dm. |
2010-10-05 |
2023-08-12 |
Not clear |
| b' Jasenka Ille, Natasa Rojni\\xc4\\x87 Putarek, Ana Radica, Andrew Hattersley, Sian Ellard, Miroslav Dumi\\xc4\\x8. [Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2]. Lijecnicki vjesnik. vol 132. issue 3-4. 2010-07-01. PMID:20540435.' |
[low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of kcnj11 gene encoding kir6.2]. |
2010-07-01 |
2023-08-12 |
Not clear |
| b' Jasenka Ille, Natasa Rojni\\xc4\\x87 Putarek, Ana Radica, Andrew Hattersley, Sian Ellard, Miroslav Dumi\\xc4\\x8. [Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2]. Lijecnicki vjesnik. vol 132. issue 3-4. 2010-07-01. PMID:20540435.' |
we describe a boy diagnosed with pndm at the age of 3 months when insulin therapy was started, and at the age of 4.5 years kcnj11 gene was sequenced and found that the boy carried a de novo activating r201h mutation. |
2010-07-01 |
2023-08-12 |
Not clear |
| 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. |
successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the kcnj11 gene. |
2010-06-04 |
2023-08-12 |
Not clear |