Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
Article Abstract:
Research has been conducted on the Andersen's syndrome characterized by cardiac arrhythmias and dysmorphic features. The mapping of the Andersen's locus to the chromosome near the inward rectifying potassium channel gene has been carried out and the results indicate that mutations in Kir2.1 affect the developmental signaling and cause Andersen's syndrome.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
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Defective interplay of activators and repressors with TFIIH in xeroderma pigmentosum
Article Abstract:
Research has been conducted on the inherited mutations of the TFIIH helicase subunits xeroderma pigmentosum. Results indicate that the xeroderma pigmentosum mutations block transcription activation by the FUSE Binding Protein (FBP) and repression by the FBP Interacting Repressor.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
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