Počet záznamov: 1
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Názov Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1. Autor Robbiano A. Spoluautori Frecer Vladimír 1957- SAVEXONK - Ústav experimentálnej onkológie SAV ORCID Miertuš Stanislav Spoluautori Miertus J. Zadro C. Ulivi S. Bevilacqua E. Mandrile G. De Marchi M. Amoroso A. Zdroj.dok. Journal of Nephrology. Vol. 23 , no. 6 (2010) p. 667-676 Jazyk dok. eng - angličtina Krajina IT - Taliansko Druh dok. rozpis článkov z periodík (rbx) Ohlasy MONTIOLI, Riccardo - RONCADOR, Alessandro - OPPICI, Elisa - MANDRILE, Giorgia - GIACHINO, Daniela Francesca - CELLINI, Barbara - VOLTATTORNI, Carla Borri. S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation. In HUMAN MOLECULAR GENETICS. ISSN 0964-6906, 2014, vol. 23, no. 22, pp. 5998. LAGE, Melissa D. - PITTMAN, Adrianne M. C. - RONCADOR, Alessandro - CELLINI, Barbara - TUCKER, Chandra L. Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria. In PLOS ONE. ISSN 1932-6203, 2014, vol. 9, no. 4, pp. MANDRILE, Giorgia - VAN WOERDEN, Christiaan S. - BERCHIALLA, Paola - BECK, Bodo B. - BOURDAIN, Cecile Acquaviva - HULTON, Sally-Anne - RUMSBY, Gill. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. In KIDNEY INTERNATIONAL. ISSN 0085-2538, 2014, vol. 86, no. 6, pp. 1197. DU, Dun-feng - LI, Qian-qian - CHEN, Chen - SHI, Shu-mei - ZHAO, Yuan-yuan - JIANG, Ji-pin - WANG, Dao-wen - GUO, Hui - ZHANG, Wei-jie - CHEN, Zhi-shui. Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. In CURRENT MEDICAL SCIENCE. ISSN 2096-5230, 2018, vol. 38, no. 5, pp. 749-757. LU, Xiulan - CHEN, Weijian - LI, Liping - ZHU, Xinyuan - HUANG, Caizhi - LIU, Saijun - YANG, Yongjia - ZHAO, Yaowang. Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation. In FRONTIERS IN PHARMACOLOGY. ISSN 1663-9812, 2019, vol. 10, no., pp. LU, X.L. - CHEN, W.J. - LI, L.P. - ZHU, X.Y. - HUANG, C.Z. - LIU, S.J. - YANG, Y.J. - ZHAO, Y.W. Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation. In FRONTIERS IN PHARMACOLOGY. ISSN 1663-9812, FEB 6 2019, vol. 10. DU, D.F. - LI, Q.Q. - CHEN, C. - SHI, S.M. - ZHAO, Y.Y. - JIANG, J.P. - WANG, D.W. - GUO, H. - ZHANG, W.J. - CHEN, Z.S. Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. In CURRENT MEDICAL SCIENCE. ISSN 2096-5230, OCT 2018, vol. 38, no. 5, p. 749-757. LAGE, M.D. - PITTMAN, A.M.C. - RONCADOR, A. - CELLINI, B. - TUCKER, C.L. Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria. In PLOS ONE. ISSN 1932-6203, APR 9 2014, vol. 9, no. 4. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2010 Registrované v WOS Registrované v SCOPUS Registrované v CCC 
článok
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) 2010 2009 1.252 Q3 0.591 Q2
Počet záznamov: 1