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Physical Sciences and Mathematics Commons

Open Access. Powered by Scholars. Published by Universities.®

Chemistry

Brigham Young University

Theses/Dissertations

2013

ATS

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Full-Text Articles in Physical Sciences and Mathematics

Developmental Signaling Requires Inwardly Rectifying K+ Channels In Drosophila Melanogaster, Giri Raj Dahal Jul 2013

Developmental Signaling Requires Inwardly Rectifying K+ Channels In Drosophila Melanogaster, Giri Raj Dahal

Theses and Dissertations

Inwardly rectifying potassium (IRK/Kir) channels regulate intracellular K+ concentrations and membrane potential. Disruption of Kir2.1 causes dominantly inherited Andersen Tawil Syndrome (ATS). ATS patients suffer from cardiac arrhythmias, periodic paralysis, and cognitive impairment. These symptoms are consistent with current understanding of the role of ion channels in muscle cells and neurons. However, ATS symptoms also include craniofacial and digital deformities such as cleft palate, dental defects, wide set eyes, low set ears, and crooked or fused digits. These developmental defects were not consistent with current understanding of developmental signaling or previously described roles for ion channels. We found that phenotypes …