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

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00179906%3A_____%2F13%3A10138954" target="_blank" >RIV/00179906:_____/13:10138954 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11150/13:10138954

  • Result on the web

    <a href="http://www.nature.com/ng/journal/v45/n9/full/ng.2716.html" target="_blank" >http://www.nature.com/ng/journal/v45/n9/full/ng.2716.html</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1038/ng.2716" target="_blank" >10.1038/ng.2716</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

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

  • Original language 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.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FA - Cardiovascular diseases including cardio-surgery

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    N - Vyzkumna aktivita podporovana z neverejnych zdroju

Others

  • Publication year

    2013

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Nature Genetics

  • ISSN

    1061-4036

  • e-ISSN

  • Volume of the periodical

    45

  • Issue of the periodical within the volume

    9

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    6

  • Pages from-to

    1055-1060

  • UT code for WoS article

    000323748200016

  • EID of the result in the Scopus database