| pubmed-article:8772446 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8772446 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
| pubmed-article:8772446 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8772446 | lifeskim:mentions | umls-concept:C0205161 | lld:lifeskim |
| pubmed-article:8772446 | lifeskim:mentions | umls-concept:C0851285 | lld:lifeskim |
| pubmed-article:8772446 | lifeskim:mentions | umls-concept:C0597484 | lld:lifeskim |
| pubmed-article:8772446 | lifeskim:mentions | umls-concept:C0439799 | lld:lifeskim |
| pubmed-article:8772446 | pubmed:issue | 1 Pt 1 | lld:pubmed |
| pubmed-article:8772446 | pubmed:dateCreated | 1996-12-19 | lld:pubmed |
| pubmed-article:8772446 | pubmed:abstractText | Liddle's disease is an autosomal dominant genetic disorder characterized by severe low renin hypertension ("pseudoaldosteronism") that has been genetically linked to a locus on chromosome 16 encoding the beta-subunit of an amiloride-sensitive Na+ channel (ASSC) (15). Peripheral blood lymphocytes (PBL) express ASSC that are functionally indistinguishable from those expressed by Na(+)-reabsorbing renal epithelial cells (3, 5). The amiloride-sensitive Na+ conductance in PBL from affected and unaffected individuals from the original Liddle's pedigree was examined using whole cell patch clamp. Typically, the basal Na+ currents in cells from affected individuals were maximally activated. Basal Na+ currents in cells from unaffected individuals were minimal and could be maximally activated by superfusion with 8-(4-chlorophenylthio)adenosine 3',5'-cyclic monophosphate (CPT-cAMP). Affected cells could not be further stimulated with CPT-cAMP. Superfusion with a supermaximal concentration of amiloride (2 microM) inhibited both the cAMP-activated Na+ conductance in unaffected cells and the constitutively activated inward conductance in affected cells. Cytosolic addition of a peptide identical to the terminal 10 amino acids of the truncated beta-subunit normalized the cAMP-mediated but not the pertussis toxin-induced regulation of the mutant ASSC. The findings show that lymphocyte ASSC are constitutively activated in affected individuals, that a mutation of the beta-subunit alters ASSC responsiveness to specific regulatory effectors, and that the cellular mechanism responsible for the pathophysiology of Liddle's disease is abnormal regulation of Na+ channel activity. These findings have important diagnostic and therapeutic implications and provide a cellular phenotype for the diagnosis of pseudoaldosteronism. | lld:pubmed |
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| pubmed-article:8772446 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8772446 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8772446 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8772446 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8772446 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:8772446 | pubmed:issn | 0002-9513 | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:BenosD JDJ | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:WarnockD GDG | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:LiftonR PRP | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:BubienJ KJK | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:FullerC MCM | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:AchardJ MJM | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:IsmailovI III | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:CornwellTT | lld:pubmed |
| pubmed-article:8772446 | pubmed:author | pubmed-author:BerdievB KBK | lld:pubmed |
| pubmed-article:8772446 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8772446 | pubmed:volume | 270 | lld:pubmed |
| pubmed-article:8772446 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8772446 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8772446 | pubmed:pagination | C208-13 | lld:pubmed |
| pubmed-article:8772446 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:8772446 | pubmed:meshHeading | pubmed-meshheading:8772446-... | lld:pubmed |
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| pubmed-article:8772446 | pubmed:meshHeading | pubmed-meshheading:8772446-... | lld:pubmed |
| pubmed-article:8772446 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8772446 | pubmed:articleTitle | Liddle's disease: abnormal regulation of amiloride-sensitive Na+ channels by beta-subunit mutation. | lld:pubmed |
| pubmed-article:8772446 | pubmed:affiliation | Department of Medicine, University of Alabama at Birmingham, USA. | lld:pubmed |
| pubmed-article:8772446 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8772446 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:8772446 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:8772446 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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