| pubmed-article:18955660 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18955660 | lifeskim:mentions | umls-concept:C0040300 | lld:lifeskim |
| pubmed-article:18955660 | lifeskim:mentions | umls-concept:C0022646 | lld:lifeskim |
| pubmed-article:18955660 | lifeskim:mentions | umls-concept:C0021920 | lld:lifeskim |
| pubmed-article:18955660 | lifeskim:mentions | umls-concept:C0597298 | lld:lifeskim |
| pubmed-article:18955660 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:18955660 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:18955660 | lifeskim:mentions | umls-concept:C1538110 | lld:lifeskim |
| pubmed-article:18955660 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:18955660 | pubmed:dateCreated | 2008-11-21 | lld:pubmed |
| pubmed-article:18955660 | pubmed:abstractText | Large deletions in intron 1 of the with-no-lysine kinase type 1 (WNK1) gene cause familial hyperkalemic hypertension. Alternative promoters generate functionally different isoforms: long ubiquitous isoforms (L-WNK1) and a kidney-specific isoform (KS-WNK1) lacking kinase activity. It remains unclear whether the disease-causing mutations selectively modify the synthesis of 1 or both types of isoforms. Using a transgenic mouse model, we found that intron 1 deletion resulted in the overexpression of L- and KS-WNK1 in the distal convoluted tubule and ubiquitous ectopic KS-WNK1 expression. Phylogenetic and functional analysis of the minimal 22-kb intron 1 deletion identified 1 repressor and 1 insulator, potentially preventing interactions between the regulatory elements of L-WNK1 and KS-WNK1. These results provide the first insight into the molecular mechanisms of WNK1-induced familial hyperkalemic hypertension. | lld:pubmed |
| pubmed-article:18955660 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18955660 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18955660 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18955660 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18955660 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18955660 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18955660 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18955660 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:18955660 | pubmed:issn | 1524-4563 | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:JeunemaitreXa... | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:Imbert-Teboul... | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:HadchouelJuli... | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:DelaloyCéline... | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:HouotAnne-Mar... | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:ClemessyMaudM | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:ZhouXiao-ouXO | lld:pubmed |
| pubmed-article:18955660 | pubmed:author | pubmed-author:Elvira-Matelo... | lld:pubmed |
| pubmed-article:18955660 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18955660 | pubmed:volume | 52 | lld:pubmed |
| pubmed-article:18955660 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18955660 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18955660 | pubmed:pagination | 1149-54 | lld:pubmed |
| pubmed-article:18955660 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:18955660 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18955660 | pubmed:articleTitle | Deletion of WNK1 first intron results in misregulation of both isoforms in renal and extrarenal tissues. | lld:pubmed |
| pubmed-article:18955660 | pubmed:affiliation | Faculté de Médecine, Université Paris Descartes Paris V, Collège de France, INSERM Unit 772, Paris, France. | lld:pubmed |
| pubmed-article:18955660 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18955660 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:65125 | entrezgene:pubmed | pubmed-article:18955660 | lld:entrezgene |
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