Hereditary renal hypouricemia type 1 and autosomal dominant polycystic kidney disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F15%3A%230005035" target="_blank" >RIV/00023728:_____/15:#0005035 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/15:10306882 RIV/00064165:_____/15:10306882
Result on the web
<a href="http://apps.webofknowledge.com/full_record.do?product=UA&search_mode=GeneralSearch&qid=1&SID=Y2RsBNomTQf3ElNG91B&page=1&doc=1" target="_blank" >http://apps.webofknowledge.com/full_record.do?product=UA&search_mode=GeneralSearch&qid=1&SID=Y2RsBNomTQf3ElNG91B&page=1&doc=1</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/MAJ.0000000000000550" target="_blank" >10.1097/MAJ.0000000000000550</a>
Alternative languages
Result language
angličtina
Original language name
Hereditary renal hypouricemia type 1 and autosomal dominant polycystic kidney disease
Original language description
Renal hypouricemia is a heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury. In this article, the authors present a coexpression functional characterization of variants responsible for renal hypouricemia type 1 in a Czech family with polycystic kidney disease. The findings suggest that not only loss-of-function mutation of URAT1 but also the dominant-negative effect cause renal hypouricemia through loss of uric acid absorption, partly due to protein misfolding caused by accumulation of URAT1 protein in the endoplasmic reticulum.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FE - Other fields of internal medicine
OECD FORD branch
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Result continuities
Project
<a href="/en/project/LH13245" target="_blank" >LH13245: Molecular pathology and genetic diagnostics of renal hypouricemia</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
ISSN
0002-9629
e-ISSN
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Volume of the periodical
350
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
4
Pages from-to
268-271
UT code for WoS article
000362218400006
EID of the result in the Scopus database
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