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A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications
Title A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications Author Tammaro P. Co-authors Flanagan S.E. Zadek B. Sriram Srinivasan Woodhead H. Hameed S. Klimeš Iwar SAVEXEND - Ústav experimentálnej endokrinológie SAV Hattersley A. T. Ellard S. Ashcroft F. M. Source document Diabetologia. Vol. 51, no. 5 (2008), p. 802-810 Language eng - English Document kind rozpis článkov z periodík (rbx) Citations Waterfield T, Gloyn AL: Monogenic ß-cell dysfunction in children: Clinical phenotypes, genetic etiology and mutational pathways. PEDIATRIC HEALTH 2(4): 517-532, 2008. Chen, F., Zheng, D., Xu, Y., Luo, Y., Li, H., Yu, K., Song, Y., Zhong, W., Ji, Y. Down-regulation of Kir6.2 affects calcium influx and insulin secretion in HIT-T15 cells. Journal of Pediatric Endocrinology and Metabolism Volume 23, Issue 7, 2010, Pages 709-717. Remedi, M.S., Koster, J.C. KATP channelopathies in the pancreas. Pflugers Archiv European Journal of Physiology, Volume 460, Issue 2, July 2010, Pages 307-320. Noczyńska, A. , Zubkiewicz-Kucharska, A. , Salmonowicz, B. , Małecki, M. , Młynarski, W. Three-year observation of permanent neonatal diabetes. Endokrynologia, Diabetologia i Choroby Przemiany Materii Wieku Rozwojowego Volume 16, Issue 1, 2010, Pages 50-54. Greeley, S.A.W., Tucker, S.E., Worrell, H.I., Skowron, K.B., Bell, G.I., Philipson, L.H. Update in neonatal diabetes. Current Opinion in Endocrinology, Diabetes and Obesity, Volume 17, Issue 1, February 2010, Pages 13-19. Avery, P., Mousa, S.S., Mousa, S.A. Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine, Cited by since 1996. Lang, V., Youssef, N., Light, P.E. The Molecular Genetics Of Sulfonylurea Receptors In The Pathogenesis And Treatment Of Insulin Secretory Disorders And Type 2 Diabetes current Diabetes Reports 11 (6) pp. 543-551 2011 Wang, H.-R., Wu, M., Yu, H., Long, S., Stevens, A., Engers, D.W., Sackin, H., Li M, Mcmanus, O.B. Result2 Selective Inhibition Of The K Ir2 Family Of Inward Rectifier Potassium Channels By A Small Molecule Probe: The Discovery, Sar, And Pharmacological Characterization Of Ml133 ACS CHEMICAL BIOLOGY 6 (8) , PP. 845-856 2011 MYSLIWIEC, M.: Modulators of K+ channels in diabetology. POTASSIUM CHANNELS AS A TARGET FOR CLINICAL THERAPEUTICS pp. 43-60 STOCKAND, James D. Renal Ion Channels, Electrophysiology of Transport, and Channelopathies. In Seldin and Geibisch's The Kidney, 2013, vol. 1, pp. 217-262. HASHIMOTO, Yukiko - DATEKI, Sumito - HIROSE, Masakazu - SATOMURA, Kenichi - SAWADA, Hirotake - MIZUNO, Haruo - SUGIHARA, Shigetaka - MARUYAMA, Koichi - URAKAMI, Tatsuhiko - SUGAWARA, Hidenori - SHIRAI, Kenji - YORIFUJI, Tohru. Molecular and clinical features of K-ATP-channel neonatal diabetes mellitus in Japan. In PEDIATRIC DIABETES. ISSN 1399-543X, 2017, vol. 18, no. 7, pp. 532-539. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2008 Registered in WOS Registered in SCOPUS DOI 10.1007/s00125-008-0923-1 
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rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2008 2007 5.822 Q1 2.800 Q1
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