Intragenic suppression of a constitutively active allele of Gsα associated with McCune–Albright syndrome
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چکیده
منابع مشابه
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome.
Mutations in the KCNH2 or human ether-a-go-go-related gene-encoded K(+) channel reduce functional KCNH2 current (I(KCNH2)) to cause long QT syndrome (LQT2) by multiple mechanisms, including defects in intracellular transport (trafficking). Trafficking-deficient, or class 2, LQT2 mutations reduce the Golgi processing and surface membrane expression of KCNH2 channel proteins. Drugs that associate...
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ژورنال
عنوان ژورنال: Journal of Molecular Endocrinology
سال: 2013
ISSN: 0952-5041,1479-6813
DOI: 10.1530/jme-12-0087