About: Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

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About: Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension Goto Sponge NotDistinct Permalink

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://www.nature.com/ng/journal/v45/n9/full/ng.2716.html
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00216208:11150/13:10138954!RIV14-MSM-11150___
http://linked.open...avai/riv/aktivita	I N
http://linked.open...avai/riv/aktivity	I, N
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Solař, Miroslav Ceral, Jiří
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	Univerzita Karlova v Praze / Lékařská fakulta v Hradci Králové
http://linked.open...dnocenehoVysledku	106294
http://linked.open...ai/riv/idVysledku	RIV/00216208:11150/13:10138954
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	somatic mutations; genetics; calcium channels; adrenal adenoma; aldosteronism; arterial hypertension (en)
http://linked.open.../riv/klicoveSlovo	arterial hypertension calcium channels genetics adrenal adenoma aldosteronism somatic mutations
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[477483332AAB]
http://linked.open...i/riv/nazevZdroje	Nature Genetics
http://linked.open...in/vavai/riv/obor	FA
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	33 (xsd:int)
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	45
http://linked.open...iv/tvurceVysledku	Ceral, Jiří Solař, Miroslav Azizan, Elena A. B. Bochukova, Elena G. Brighton, Cheril A. Brown, Morris Chaggar, Kanchan Clausen, Michael V. Davenport, Antony P. Deinum, Jaap Dekkers, Tanja Dolphin, Annette Farooqi, I. Sadaf Garg, Sumedha Hadfield, James Küsters, Benno Lieb, Andreas Maniero, Carmela Marass, Francesco Margas, Wojciech McFarlane, Ian Neogi, Sudeshna Guha Nissen, Poul Poulsen, Hanne Rosenfeld, Nitzan Shaikh, Lalarukh Haris Striessnig, Joerg Teo, Ada E. D. Tops, Bas Tuluc, Petronel Yeo, Giles S. H. Zhao, Wanfeng Zhou, Junhua
http://linked.open...ain/vavai/riv/wos	000323748200016
issn	1061-4036
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1038/ng.2716
http://localhost/t...ganizacniJednotka	11150

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