Počet záznamov: 1
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
Názov Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. Autor Valentínová Lucia SAVEXEND - Ústav experimentálnej endokrinológie SAV Spoluautori Beer N. L. Staník Juraj SAVEXEND - Ústav experimentálnej endokrinológie SAV Tribble N. D. Van de Bunt M. Hučková Miroslava SAVEXEND ; SAVMOMEC - Ústav experimentálnej endokrinológie SAV ORCID Barrett Anthony A. Klimeš Iwar SAVEXEND ; SAVMOMEC - Ústav experimentálnej endokrinológie SAV Gašperíková Daniela SAVEXEND ; SAVMOMEC - Ústav experimentálnej endokrinológie SAV RID ORCID Gloyn A. L. Zdroj.dok. PLoS ONE. Vol. 7, no. 4 (2012), p. e34541 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy NUNEZ, Lucia - RAMON GIMENO-BLANES, Juan - ISABEL RODRIGUEZ-GARCIA, Maria - MONSERRAT, Lorenzo - ZORIO, Esther - COATS, Caroline - MCGREGOR, Christopher G. - PEDRO HERNANDEZ DEL RINCON, Juan - CASTRO-BEIRAS, Alfonso - HERMIDA-PRIETO, Manuel. Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 Mutations in Sporadic Hypertrophic Cardiomyopathy. In CIRCULATION JOURNAL. ISSN 1346-9843, 2013, vol. 77, no. 9, pp. 2358. GUELTAS, Mehmet - DUEZGUEN, Guencel - HERZOG, Sebastian - JAEGER, Sven Joachim - MECKBACH, Cornelia - WINGENDER, Edgar - WAACK, Stephan. Quantum coupled mutation finder: predicting functionally or structurally important sites in proteins using quantum Jensen-Shannon divergence and CUDA programming. In BMC BIOINFORMATICS. ISSN 1471-2105, 2014, vol. 15. KANTHIMATHI, Sekar - JAHNAVI, Suresh - BALAMURUGAN, Kandasamy - RANJANI, Harish - SONYA, Jagadesan - GOSWAMI, Soumik - CHOWDHURY, Subhankar - MOHAN, Viswanathan - RADHA, Venkatesan. Glucokinase gene mutations (MODY 2) in Asian Indians. In Diabetes Technology and Therapeutics. ISSN 15209156, 2014, vol. 16, no. 3, pp. 180-185. COSTANTINI, S. - MALERBA, G. - CONTREAS, G. - CORRADI, M. - VARGAS, S. P. Marin - GIORGETTI, A. - MAFFEIS, C. Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype. In CLINICAL GENETICS. ISSN 0009-9163, 2015, vol. 87, no. 5, pp. 440-447. LANGER, Sara - PLATZ, Christian - WATERSTRADT, Rica - BALTRUSCH, Simone. Characterization of two MODY2 mutations with different susceptibility to activation. In BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. ISSN 0006-291X, 2015, vol. 464, no. 4, pp. 1113-1119. WEINREICH, Stephanie S. - BOSMA, Astrid - HENNEMAN, Lidewij - RIGTER, Tessel - SPRUIJT, Carla M. J. - GRIMBERGEN, Anneliese J. E. M. A. - BREUNING, Martijn H. - DE KONING, Eelco J. P. - LOSEKOOT, Monique - CORNEL, Martina C. A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands. In EUROPEAN JOURNAL OF HUMAN GENETICS. ISSN 1018-4813, 2015, vol. 23, no. 1, pp. 29-33. HALILOGLU, Belma - HYSENAJ, Gerald - ATAY, Zeynep - GURAN, Tulay - ABALI, Saygin - TURAN, Serap - BEREKET, Abdullah - ELLARD, Sian. GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. In CLINICAL ENDOCRINOLOGY. ISSN 0300-0664, 2016, vol. 85, no. 3, pp. 393-399. COVANŢEV, Serghei - CHIRIAC, Andrian - PERCIULEAC, Ludmila - ZOZINA, Vladlena. Maturity onset diabetes of the young: Diagnosis and treatment options. In Russian Open Medical Journal, 2016-01-01, 5, 4, pp. SIMCIKOVA, Daniela - KOCKOVA, Lucie - VACKAROVA, Katerina - TESINSKY, Miroslav - HENEBERG, Petr. Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2017, vol. 7. DWULET, JaeAnn M. - LUDIN, Nurin W. F. - PISCOPIO, Robert A. - SCHLEICHER, Wolfgang E. - MOUA, Ong - WESTACOTT, Matthew J. - BENNINGER, Richard K. P. How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [Ca2+] Response. In BIOPHYSICAL JOURNAL. ISSN 0006-3495, 2019, vol. 117, no. 11, pp. 2188-2203. Kategória ADMA - Vedecké práce v zahraničných impaktovaných časopisoch registrovaných vo WOS Core Collection alebo SCOPUS Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2012 Registrované v WOS Registrované v SCOPUS DOI 10.1371/journal.pone.0034541 
článok
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore N rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2012 2011 4.092 Q1 2.425 Q1
Počet záznamov: 1