About: Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations

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About: Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome and risk for WT in 52 patients from 51 families with NS due to WT1 mutations is described. This study followed 19 patients with mutations in intron 9 splice donor site (KTS mutations), 27 patients with missense mutations, 4 patients with nonsense mutations, 1 patient with a splice site mutation in intron 8, and 1 patient with a deletion. Twenty-four different WT1 mutations were detected. Sixteen of the 19 patients with KTS mutations were females. These patients had isolated NS if karyotype was 46,XX and Frasier syndrome if karyotype was 46,XY. Patients with KTS mutations presented at a significantly older age and with a slower progression toward chronic kidney disease (CKD) stage 5, compared with missense mutations. The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome and risk for WT in 52 patients from 51 families with NS due to WT1 mutations is described. This study followed 19 patients with mutations in intron 9 splice donor site (KTS mutations), 27 patients with missense mutations, 4 patients with nonsense mutations, 1 patient with a splice site mutation in intron 8, and 1 patient with a deletion. Twenty-four different WT1 mutations were detected. Sixteen of the 19 patients with KTS mutations were females. These patients had isolated NS if karyotype was 46,XX and Frasier syndrome if karyotype was 46,XY. Patients with KTS mutations presented at a significantly older age and with a slower progression toward chronic kidney disease (CKD) stage 5, compared with missense mutations. (en)
Title	Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations (en)
skos:prefLabel	Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations (en)
skos:notation	RIV/00064203:_____/10:6739!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Seeman, Tomáš
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	260491
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6739
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	diffuse mesangial sclerosis; tumor suppressor gene; splice-site mutation; denys-drash syndrome; wilms-tumor; frasier-syndrome; glomerular-diseases; germline mutations; missense mutations; steroid-resistant (en)
http://linked.open.../riv/klicoveSlovo	germline mutations missense mutations steroid-resistant wilms-tumor tumor suppressor gene denys-drash syndrome diffuse mesangial sclerosis frasier-syndrome glomerular-diseases splice-site mutation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[CB6E2D4B1F61]
http://linked.open...i/riv/nazevZdroje	Clinical Journal of the American Society of Nephrology
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	24 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	5
http://linked.open...iv/tvurceVysledku	Seeman, Tomáš Ozaltin, Fatih Chernin, Gil Cleper, Roxana Heeringa, Saskia Hildebrandt, Friedhelm Ovunc, Bugsu Saisawat, Pawaree Schoeb, Dominik Strecker, M. Taranta-Janusz, K. Vega-Warner, Virginia WEigel, F. Zolotnitskaya, A.
http://linked.open...ain/vavai/riv/wos	000281685600019
issn	1555-9041
number of pages	8 (xsd:int)

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