About: Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1016/j.ymgme.2010.12.016
Description	We have found a Czech family with renal hypouricemia caused by a homozygous insertion in the SLC2A9 gene with no sequence variants in SLC22A12, SLC17A3, ABCC4 or ABCG2. Homozygous loss-of-function mutations in SLC2A9 cause massive renal hypouricemia via total loss of uric acid absorption, however, they do not necessarily lead to nephrolithiasis and acute kidney injury. Our finding of a defect in the SLC2A9 gene shows the following: a) it provides further evidence that SLC2A9 is a causative gene in renal hypouricemia type 2 with clinical distinctions; b) it supports the prediction that normal function of both URAT1 and GLUT9 are essential for normal uric acid reabsorption in the renal proximal tubule. We have found a Czech family with renal hypouricemia caused by a homozygous insertion in the SLC2A9 gene with no sequence variants in SLC22A12, SLC17A3, ABCC4 or ABCG2. Homozygous loss-of-function mutations in SLC2A9 cause massive renal hypouricemia via total loss of uric acid absorption, however, they do not necessarily lead to nephrolithiasis and acute kidney injury. Our finding of a defect in the SLC2A9 gene shows the following: a) it provides further evidence that SLC2A9 is a causative gene in renal hypouricemia type 2 with clinical distinctions; b) it supports the prediction that normal function of both URAT1 and GLUT9 are essential for normal uric acid reabsorption in the renal proximal tubule. (en)
Title	Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia (en)
skos:prefLabel	Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia (en)
skos:notation	RIV/00064165:_____/11:9886!RIV12-MZ0-00064165
http://linked.open...avai/predkladatel	Všeobecná fakultní nemocnice v Praze
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Šebesta, Ivan
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	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	216591
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/11:9886
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Renal hypouricemia; Uric acid transporter; SLC2A9 (en)
http://linked.open.../riv/klicoveSlovo	Renal hypouricemia SLC2A9 Uric acid transporter
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[9755F2991FCD]
http://linked.open...i/riv/nazevZdroje	Molecular Genetics and Metabolism
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	3 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	102
http://linked.open...iv/tvurceVysledku	Ichida, Kimiyoshi Stibůrková, Blanka Šebesta, Ivan
http://linked.open...ain/vavai/riv/wos	000288780300006
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	1096-7192
number of pages	6 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

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