Identification of pathogenic variants in the ABCG2 gene in patients with severe familial hyperuricemia and gout
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F25%3AN0000039" target="_blank" >RIV/00023728:_____/25:N0000039 - isvavai.cz</a>
Alternative codes found
RIV/00023728:_____/25:N0000006 RIV/00216208:11110/25:10497835 RIV/00216208:11310/25:10497835 RIV/00064165:_____/25:10497835
Result on the web
<a href="https://doi.org/10.1007/s11010-025-05252-9" target="_blank" >https://doi.org/10.1007/s11010-025-05252-9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s11010-025-05252-9" target="_blank" >10.1007/s11010-025-05252-9</a>
Alternative languages
Result language
angličtina
Original language name
Identification of pathogenic variants in the ABCG2 gene in patients with severe familial hyperuricemia and gout
Original language description
We report the identification of two pathogenic variants in the ABCG2 gene, encoding a urate exporter, in two probands (male and female) with severe familial gouty phenotypes and hyperuricemia. Clinico-genetic analyses identified p.I63YfsTer54 (rs565722112) and p.G74D (rs199976573) as potentially causal mutations; functional analyses demonstrated that these two variants are deficient in plasma membrane localization and functionally null. Our data show that dysfunctional variants in the ABCG2 gene are strong risk factors for hyperuricemia and gout in both males and females.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10601 - Cell biology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
MOLECULAR AND CELLULAR BIOCHEMISTRY
ISSN
0300-8177
e-ISSN
1573-4919
Volume of the periodical
480
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
4259-4264
UT code for WoS article
001443863000001
EID of the result in the Scopus database
2-s2.0-105000041457