Katalóg evidencie publikačnej činnosti PU

ID záznamu:	PU.Prešov.2016031009172032
Kategória:	ADC
Autor:	Dojčáková Dana (30%)
Autor:	Bernasovská Jarmila (10%)
Autor:	Sokolová Jitka (20%)
Autor:	Stiburková B. (40%)
Názov:	High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection by allele-specific polymerase chain reaction [print, elektronický dokument]
Zdroj:	Urolithiasis [print, elektronický dokument]
Lokácia:	Roč. 43, č. 5. - New York : Springer Nature, (2015), s. 441-445
ISSN:	2194-7228. - ISSN 2194-7236
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 and genomic medicine, ISSN 2324-9269. 2019, vol. 7, no. 7, s. [12].
Ohlas:	[1] 2019. VAN DER WIJST, J., BELGE, H., BINDELS, R.J.M. et al. Learning physiology from inherited kidney disorders. In Physiological reviews, ISSN 0031-9333. 2019, vol. 99, no. 3, s. 1575-1653.
Ohlas:	[1] 2018. LEE, H.A., PARK, B.H., PARK, E.A. et al. Long-term effects of the SLC2A9 G844A and SLC22A12 C246T variants on serum uric acid concentrations in children. In BMC pediatrics, ISSN 1471-2431. 2018, vol. 18, no. 1, s. [7].
Ohlas:	[1] 2017. DALBETH, N., STAMP, L.K., MERRIMAN, T.R. The genetics of gout: towards personalised medicine?. In BMC medicine, ISSN 1741-7015. 2017, vol. 15, no.1.
Ohlas:	[1] 2018. PAGANONI, S., NICHOLSON, K., CHAN, J. et al. Urate levels predict survival in amyotrophic lateral sclerosis: analysis of the expanded Pooled Resource Open-Access ALS clinical trials database. In Muscle and nerve, ISSN 0148-639X. 2018, vol. 57, no. 3, s. 430-434.
Ohlas:	[1] 2018. CLAVERIE-MARTIN, F., TRUJILLO-SUAREZ, J., GONZALEZ-ACOSTA, H. et al. URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia. In Clinica chimica acta, ISSN 0009-8981. 2018, vol. 481, s. 83-89.
Ohlas:	[1] 2018. PETRIKOVA, J., JANICKO, M., FEDACKO, J. et al. Serum uric acid in roma and non-roma – its correlation with metabolic syndrome and other variables. In International journal of environmental reserach and public health, ISSN 1661-7827. 2018, vol. 15, no. 7, s. [14].
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, vol. 19, no. 1, s. [11].
Ohlas:	[1] 2017. FANNING, N., STAMP, L.K., MERRIMAN, T.R. Genetic influences in gout. In Gout : risk factors, prevalence and impact on health. New York : Nova Science Publishers, Inc., 2017, s. 1-22. ISBN 978-153611803-2.
Ohlas:	[1] 2017. KUO, T.-M., HUANG, C.-M., TU, H.-P. et al. URAT1 inhibition by ALPK1 is associated with uric acid homeostasis: ALPK1 and SLC22A12 in uric acid homeostasis. In Rheumatology (United Kingdom), ISSN 1426-0324. 2017, vol. 56, no. 4, s. 654-659.
Ohlas:	[1] 2020. PINEDA, C., SOTO-FAJARDO, C., MENDOZA, J. et al. Hypouricemia: what the practicing rheumatologist should know about this condition. In Clinical rheumatology, ISSN 0770-3198. 2020, vol. 39, no. 1, s. 135-147.
Ohlas:	[1] 2022. OTANI, N., OUCHI, M., MISAWA, K. Hypouricemia and urate transporters. In Biomedicines, ISSN 2227-9059. 2022, roč. 10, č. 3, art. no. 652. WOS:000775897200001;SCOPUS.
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] 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, č. 2, s. 81-95. SCOPUS;WOS:000767518100004.
Ohlas:	[1] 2021. TOYODA, Y., KAWAMURA, Y., NAKAYAMA, A. et al. 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] 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, ISSN 2227-9059. 2021, roč. 9, č. 8, art.no. 1012. SCOPUS;WOS:000688785000001.
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. IM, S.W., CHAE, J., SON, H.Y. et al. A population-specific low-frequency variant of SLC22A12 (p.W258*) explains nearby genome-wide association signals for serum uric acid concentrations among Koreans. In PLoS ONE, ISSN 1932-6203. 2020, roč. 15, č. 4, art.no. e0231336. WOS:000535977000077.
Ohlas:	[1] 2020. PALLAYOVA, M., BRENISIN, M., PUTRYA, A. et al. Roma ethnicity and sex-specific associations of serum uric acid with cardiometabolic and hepatorenal health factors in eastern slovakian population: The hepameta study. In International journal of environmental research and public health, ISSN 1661-7827. 2020, roč. 17, č. 20, art. no. 7673. SCOPUS;WOS:000585577700001.
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.
Oblasť výskumu:	020