| pubmed-article:16541386 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16541386 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:16541386 | lifeskim:mentions | umls-concept:C1563715 | lld:lifeskim |
| pubmed-article:16541386 | lifeskim:mentions | umls-concept:C1416584 | lld:lifeskim |
| pubmed-article:16541386 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:16541386 | pubmed:dateCreated | 2006-3-21 | lld:pubmed |
| pubmed-article:16541386 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:abstractText | Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen-Tawil syndrome), an inherited disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We identified and characterized two novel KCNJ2 mutations (c.220A>G/p.T74A and c.443G>C/p.G144A) associated with Andersen syndrome. Heterologous expression of a recombinant wild type human KCNJ2 cDNA (WT-KCNJ2) in HEK-293 cells results in robust inward rectifying currents, but we did not observe measurable currents from cells expressing either mutant. Cells co-transfected with WT-KCNJ2 and either mutant exhibited substantially lower whole-cell current amplitude consistent with a dominant-negative suppression of WT-KCNJ2 by the mutant channels. Both p.T74A and p.G144A exhibit robust plasma membrane expression, but a third previously reported allele (p.C101R) exhibited impaired trafficking. Our results demonstrate functional consequences of two novel trafficking-competent KCNJ2 mutations associated with Andersen syndrome and expand our knowledge of allelic diversity in this disease. | lld:pubmed |
| pubmed-article:16541386 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16541386 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16541386 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16541386 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16541386 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:16541386 | pubmed:issn | 1098-1004 | lld:pubmed |
| pubmed-article:16541386 | pubmed:author | pubmed-author:GeorgeAlfred... | lld:pubmed |
| pubmed-article:16541386 | pubmed:author | pubmed-author:BensonD... | lld:pubmed |
| pubmed-article:16541386 | pubmed:author | pubmed-author:VanoyeCarlos... | lld:pubmed |
| pubmed-article:16541386 | pubmed:author | pubmed-author:MathewsKather... | lld:pubmed |
| pubmed-article:16541386 | pubmed:author | pubmed-author:WongBrendaB | lld:pubmed |
| pubmed-article:16541386 | pubmed:author | pubmed-author:BallesterLeom... | lld:pubmed |
| pubmed-article:16541386 | pubmed:author | pubmed-author:LawIan HIH | lld:pubmed |
| pubmed-article:16541386 | pubmed:copyrightInfo | Published 2006 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:16541386 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:16541386 | pubmed:volume | 27 | lld:pubmed |
| pubmed-article:16541386 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16541386 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16541386 | pubmed:pagination | 388 | lld:pubmed |
| pubmed-article:16541386 | pubmed:dateRevised | 2007-12-3 | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:meshHeading | pubmed-meshheading:16541386... | lld:pubmed |
| pubmed-article:16541386 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16541386 | pubmed:articleTitle | Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. | lld:pubmed |
| pubmed-article:16541386 | pubmed:affiliation | Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37027-0275, USA. | lld:pubmed |
| pubmed-article:16541386 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16541386 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:16541386 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
| entrez-gene:3759 | entrezgene:pubmed | pubmed-article:16541386 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:16541386 | lld:entrezgene |
| lhgdn:association:58547 | lhgdn:found_in | pubmed-article:16541386 | lld:lhgdn |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16541386 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16541386 | lld:pubmed |
