Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

MeSH Review:

Andersen Syndrome

Donaldson, M.R. et al., Fouad, G. et al., Tristani-Firouzi, M. et al., Junker, J. et al.

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

High impact information on Andersen Syndrome

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) [1].
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome [2].
In addition to the 45 hypoKPP probands, an additional 11 probands with clinical variants of hypoKPP (three thyrotoxic hypoKPP and eight Andersen syndrome patients) were examined for CACNL1A3 mutations and none were found [3].

Chemical compound and disease context of Andersen Syndrome

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome [4].

Biological context of Andersen Syndrome

BACKGROUND: Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome) [4].

References

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). Tristani-Firouzi, M., Jensen, J.L., Donaldson, M.R., Sansone, V., Meola, G., Hahn, A., Bendahhou, S., Kwiecinski, H., Fidzianska, A., Plaster, N., Fu, Y.H., Ptacek, L.J., Tawil, R. J. Clin. Invest. (2002) [Pubmed]
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Junker, J., Haverkamp, W., Schulze-Bahr, E., Eckardt, L., Paulus, W., Kiefer, R. Neurology (2002) [Pubmed]
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Fouad, G., Dalakas, M., Servidei, S., Mendell, J.R., Van den Bergh, P., Angelini, C., Alderson, K., Griggs, R.C., Tawil, R., Gregg, R., Hogan, K., Powers, P.A., Weinberg, N., Malonee, W., Ptácek, L.J. Neuromuscul. Disord. (1997) [Pubmed]
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Donaldson, M.R., Jensen, J.L., Tristani-Firouzi, M., Tawil, R., Bendahhou, S., Suarez, W.A., Cobo, A.M., Poza, J.J., Behr, E., Wagstaff, J., Szepetowski, P., Pereira, S., Mozaffar, T., Escolar, D.M., Fu, Y.H., Ptácek, L.J. Neurology (2003) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.