Genotype-phenotype associations in WT1 glomerulopathy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292796" target="_blank" >RIV/00064203:_____/14:10292796 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10292796
Result on the web
<a href="http://dx.doi.org/10.1038/ki.2013.519" target="_blank" >http://dx.doi.org/10.1038/ki.2013.519</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/ki.2013.519" target="_blank" >10.1038/ki.2013.519</a>
Alternative languages
Result language
angličtina
Original language name
Genotype-phenotype associations in WT1 glomerulopathy
Original language description
WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension at diagnosis and exhibited more rapid disease progression. Focal segmental glomerulosclerosis was equally prevalent in both cohorts, but diffuse mesangial sclerosis was largely specific for WT1 disease and was present in 34% of cases. Sex reversal and/or urogenital abnormalities (52%), Wilms tumor (38%), and gonadoblastoma (5%) were almost exclusive to WT1 disease. Missense substitutions affecting DNA-binding residues were associated with diffuse mesangial sclerosis (74%), early steroid-resistant nephrotic syndrome onset, and rapid progression to ESRD. Truncating mutations conferred t
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
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Kidney International
ISSN
0085-2538
e-ISSN
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Volume of the periodical
85
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
1169-1178
UT code for WoS article
000335713300025
EID of the result in the Scopus database
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