Source:http://linkedlifedata.com/resource/pubmed/id/12473861
Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
|
pubmed:dateCreated |
2002-12-10
|
pubmed:abstractText |
Liddle syndrome is an autosomal dominant form of salt-sensitive hypertension caused by mutations in the epithelial sodium channel expressed in the distal nephron playing an essential role in Na absorption. All reported mutations in Liddle syndrome are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the beta or gamma subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus hypertension and hypokalemia are caused.
|
pubmed:commentsCorrections | |
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
0263-6352
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
20
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
2379-82
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:12473861-Adolescent,
pubmed-meshheading:12473861-Alkalosis,
pubmed-meshheading:12473861-Amino Acid Sequence,
pubmed-meshheading:12473861-Base Sequence,
pubmed-meshheading:12473861-Epithelial Sodium Channel,
pubmed-meshheading:12473861-Female,
pubmed-meshheading:12473861-Frameshift Mutation,
pubmed-meshheading:12473861-Genes, Dominant,
pubmed-meshheading:12473861-Humans,
pubmed-meshheading:12473861-Hypertension,
pubmed-meshheading:12473861-Hypokalemia,
pubmed-meshheading:12473861-Molecular Sequence Data,
pubmed-meshheading:12473861-Sodium Channels,
pubmed-meshheading:12473861-Syndrome
|
pubmed:year |
2002
|
pubmed:articleTitle |
A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome.
|
pubmed:affiliation |
Department of Medicine and Molecular Science, Hiroshima University Graduate School of Medicine, Japan. nakanoy@hiroshima-u.ac.jp
|
pubmed:publicationType |
Journal Article,
Case Reports
|