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Statements

Subject Item
n2:RIV%2F00216208%3A11150%2F13%3A10138954%21RIV14-MSM-11150___
rdf:type
n5:Vysledek skos:Concept
rdfs:seeAlso
http://www.nature.com/ng/journal/v45/n9/full/ng.2716.html
dcterms:description
A substantial proportion of APAs resembling adrenal zona glomerulosa cells harbor gain-of-function mutations in genes important for the regulation of Na+ and Ca2+, ATP1A1 and CACNA1D, respectively. Mutations in both genes appear to be more common in cohorts enriched for smaller, zona glomerulosa-like APAs, highlight-ing the notion that diagnosis should not rely on finding a definite nodule upon adrenal imaging. A substantial proportion of APAs resembling adrenal zona glomerulosa cells harbor gain-of-function mutations in genes important for the regulation of Na+ and Ca2+, ATP1A1 and CACNA1D, respectively. Mutations in both genes appear to be more common in cohorts enriched for smaller, zona glomerulosa-like APAs, highlight-ing the notion that diagnosis should not rely on finding a definite nodule upon adrenal imaging.
dcterms:title
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension
skos:prefLabel
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension
skos:notation
RIV/00216208:11150/13:10138954!RIV14-MSM-11150___
n5:predkladatel
n10:orjk%3A11150
n3:aktivita
n6:I n6:N
n3:aktivity
I, N
n3:cisloPeriodika
9
n3:dodaniDat
n13:2014
n3:domaciTvurceVysledku
n11:7414854 n11:3677958
n3:druhVysledku
n7:J
n3:duvernostUdaju
n20:S
n3:entitaPredkladatele
n18:predkladatel
n3:idSjednocenehoVysledku
106294
n3:idVysledku
RIV/00216208:11150/13:10138954
n3:jazykVysledku
n15:eng
n3:klicovaSlova
somatic mutations; genetics; calcium channels; adrenal adenoma; aldosteronism; arterial hypertension
n3:klicoveSlovo
n8:aldosteronism n8:genetics n8:arterial%20hypertension n8:adrenal%20adenoma n8:calcium%20channels n8:somatic%20mutations
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[477483332AAB]
n3:nazevZdroje
Nature Genetics
n3:obor
n17:FA
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
33
n3:rokUplatneniVysledku
n13:2013
n3:svazekPeriodika
45
n3:tvurceVysledku
Azizan, Elena A. B. Hadfield, James Nissen, Poul Rosenfeld, Nitzan Shaikh, Lalarukh Haris Margas, Wojciech Teo, Ada E. D. Lieb, Andreas Garg, Sumedha Neogi, Sudeshna Guha McFarlane, Ian Brown, Morris Dekkers, Tanja Marass, Francesco Solař, Miroslav Ceral, Jiří Davenport, Antony P. Chaggar, Kanchan Deinum, Jaap Maniero, Carmela Zhou, Junhua Tuluc, Petronel Tops, Bas Clausen, Michael V. Yeo, Giles S. H. Küsters, Benno Farooqi, I. Sadaf Dolphin, Annette Striessnig, Joerg Brighton, Cheril A. Zhao, Wanfeng Poulsen, Hanne Bochukova, Elena G.
n3:wos
000323748200016
s:issn
1061-4036
s:numberOfPages
6
n16:doi
10.1038/ng.2716
n19:organizacniJednotka
11150