Katalóg evidencie publikačnej činnosti PU


ID záznamu:445811
Kategória:ADM
Autor:Stiburková Blanka (25%)
Autor:Dojčáková Dana (20%)
Autor:Čepek Pavel (15%)
Autor:Šimek Pavel (15%)
Autor:Kristian Pavol (15%)
Autor:Cordoba-Lanus Elizabeth (5%)
Autor:Claverie-Martin Felix (5%)
Názov:Prevalence of URAT1 allelic variants in the Roma population [print, elektronický dokument]
Zdroj:Nucleosides, Nucleotides and Nucleic Acids [print, elektronický dokument] : an international journal for rapid communication
Lokácia:Roč. 35, č. 10-12. - New York : Marcel Dekker, (2016), s. 529-535
ISSN:1525-7770. - ISSN 1532-2335
Ohlas:[1] 2022. OTANI, N., OUCHI, M., MISAWA, K. Hypouricemia and urate transporters. In Biomedicines [online], ISSN 2227-9059. 2022 [cit. 2022-09-09], roč. 10, č. 3, art. no. 652. SCOPUS; WOS:000775897200001. Dostupný na internete <https://www.mdpi.com/2227-9059/10/3/652/htm>
Ohlas:[1] 2022. ZHENG, Q., KELIANG, W., HONGTAO, Q. et al. Genetic association between SLC22A12 variants and susceptibility to hyperuricemia: a meta-analysis. In Genetic testing and molecular biomarkers, ISSN 1945-0265. 2022, roč. 26, 4. 2, s. 81-95. SCOPUS; WOS:000767518100004.
Ohlas:[1] 2022. NAKAYAMA, A., KAWAMURA, Y., TOYODA, Y. et al. Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene. In Rheumatology, ISSN 1462-0324. 2022, roč. 61, č. 3, s. 1276-1281. SCOPUS; WOS:000756359300001.
Ohlas:[1] 2021. TOYODA, Y., KAWAMURA, Y., NAKAYAMA, A. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12. In Rheumatology, ISSN 1462-0324. 2021, roč. 60, č. 11, s. 5224-5232. SCOPUS; WOS:000746190400054.
Ohlas:[1] 2022. WU, L., FAN, Y. et al. The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia. In Journal of clinical laboratory analysis, ISSN 0887-8013. 2022, roč. 35, č. 10, art. no. e23949. SCOPUS; WOS:000695406700001.
Ohlas:[1] 2021. ZHU, Ch., SUN, B., ZHANG, B. et al. An update of genetics, co-morbidities and management of hyperuricaemia. In Clinical and experimental pharmacology and physiology, ISSN 0305-1870. 2021, roč. 48, č. 10, s. 1305-1316. SCOPUS; WOS:000669338800001.
Ohlas:[1] 2022. NAKAYAMA, A., MATSUO, H., ABHISHEK, A. et al. First clinical practice guideline for renal hypouricaemia: a rare disorder that aided the development of urate-lowering drugs for gout. In Rheumatology, ISSN 1462-0324. 2022, roč. 60, č. 9, s. 3961-3963. SCOPUS; WOS:000710982100022.
Ohlas:[1] 2021. KAWAMURA, Y., NAKAYAMA, A., SHIMIZU, S. et al. A proposal for practical diagnosis of renal hypouricemia: Evidenced from genetic studies of nonfunctional variants of URAT1/SLC22A12 among 30,685 Japanese individuals. In Biomedicines [online], ISSN 2227-9059. 2021 [cit. 2022-09-09], roč. 9, č. 8, art. no. 1012. SCOPUS; WOS:000688785000001. Dostupný na internete <https://www.mdpi.com/2227-9059/9/8/1012/htm>
Ohlas:[1] 2022. ROMAN, Y.M., LOR, K., XIONG, T. et al. Gout prevalence in the Hmong: a prime example of health disparity and the role of community-based genetic research. In Personalized medicine, ISSN 1741-0541. 2022, roč. 18, č. 3, s. 311-327. SCOPUS; WOS:000635280300001.
Ohlas:[1] 2020. CHO, S.K., KIM, B., MYUNG, W. et al. Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals. In Scientific reports, ISSN 2045-2322. 2020, roč. 10, č. 1, art. no. 9179. SCOPUS; WOS:000560457200020.
Ohlas:[1] 2020. HALPERIN KUHNS, V.L., WOODWARD, O.M. Sex differences in urate handling. In International journal of molecular sciences [online], ISSN 1422-0067. 2020 [cit. 2022-09-09], roč. 21, č. 12, art. no. 4269. SCOPUS; WOS:000553485900001. Dostupný na internete <https://www.mdpi.com/1422-0067/21/12/4269/htm>
Ohlas:[1] 2020. PECES, R., MENA, R., PECES, C. et al. Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression. In Clinical genetics, ISSN 0009-9163. 2020, roč. 97, č. 6, s. 857-868. SCOPUS; WOS:000533499500006.
Ohlas:[1] 2019. LIU, CH.J., WU, J.S., HUANG, H.S. et al. Decreased associated risk of gout in diabetes patients with uric acid urolithiasis. In Journal of clinical medicine [online], ISSN 2077-0383. 2019 [cit. 2022-09-12], roč. 8, č. 10, art. 1536. SCOPUS; WOS:000498398500034. Dostupný na internete <https://www.mdpi.com/2077-0383/8/10/1536/htm>
Ohlas:[1] 2019. ZHOU, Z., WANG, K., ZHOU, J. et al. Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects. In Molecular genetics & genomic medicine, ISSN 2324-9269. 2019, roč. 7, č. 7, art. no. e722. SCOPUS; WOS:000475675000061.
Ohlas:[1] 2019. VAN DER WIJS, J., BELGE, H., BINDELS, R.J.M. et al. Learning physiology from inherited kidney disorders. In Psychological reviews, ISSN 0031-9333. 2019, roč. 99, č. 3, s. 1575-1653. SCOPUS; WOS:000475795400006.
Ohlas:[1] 2019. NAKAYAMA, A., MATSUO, H., OHTAHARA, A. et al. Clinical practice guideline for renal hypouricemia (1st edition). In Human cell, ISSN 1749-0774. 2019, roč. 32, č. 2, s. 83-87. SCOPUS; WOS:000462944800001.
Ohlas:[1] 2018. ZHOU, Z., MA, L., ZHOU, J. et al. Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review. In BMC medical genetics, ISSN 1471-2350. 2018, roč. 19, art. no. 142. SCOPUS; WOS:000441270700001.
Ohlas:[1] 2022. ALHASAN, K., D'ALESSANDRI-SILVA, C., MONGIA, A. et al. Young adults with hereditary tubular diseases: practical aspects for adult-focused colleagues. In Advances in chronic kidney disease, ISSN 1548-5595. 2022, roč. 29, č. 3, s. 292-307. SCOPUS;WOS:000892860800011.
Ohlas:[1] 2022. HAKODA, M., ICHIDA, K. Genetic basis of the epidemiological features and clinical significance of renal hypouricemia. In Biomedicines, ISSN 2227-9059. 2022, roč. 10, č. 7, art. no. 1696. SCOPUS;WOS:000834501500001.
Ohlas:[1] 2023. ZHOU, J., ZHANG, M., XIE, Q. et al. Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review. In BMC nephrology [online], ISSN 1471-2369. 2023 [cit. 2024-05-17], roč. 24, č. 1, art no. 384. WOS:001128870500003; SCOPUS. Dostupný na internete <https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-023-03378-w>
Ohlas:[1] 2023. GARCIA, E.B., ORTEGA, M.P., GÓMEZ, M.R. et al. Pseudoxanthoma elasticum and hereditary renal hypouricemia: Complication of systemic disorders or different entities? Presentation of a case. In Nefrologia, ISSN 0211-6995. 2023, roč. 43, č. 1, suppl. s. 109-110. WOS:001167096100019; SCOPUS.
Ohlas:[1] 2024. MOU, L., ZHU, L., CHEN, X. et al. Genotype and phenotype of renal Hypouricemia: a single-center study from China. In Molecular diagnosis & therapy, ISSN 1177-1062. 2024, roč. 28, č. 1, s. 87-99. WOS:001105228500001; SCOPUS.
Ohlas:[1] 2024. QUINLIVAN, R., MURPHY, E., PULA, S. et al. Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9. In Neuromuscular disorders, ISSN 0960-8966. 2024, č. 34, s. 49-53. WOS:001165099500001; SCOPUS.
Ohlas:[1] 2024. YANG, Y., MU, X., WU, Z. et al. Renal hypouricemia complicated with kidney stone: a case report. In Frontiers in medicine [online], ISSN 2296-858X. 2024 [cit. 2024-05-17], roč. 11, art no. 1218232. WOS:001166684400001; SCOPUS. Dostupný na internete <https://www.frontiersin.org/articles/10.3389/fmed.2024.1218232/full>
Oblasť výskumu:130