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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2009-11-20
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pubmed:abstractText |
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) is a rare inherited condition that is characterized by renal resistance to aldosterone as well as salt wasting, hyperkalemia, and metabolic acidosis. Renal PHA1 is caused by mutations of the human mineralcorticoid receptor gene (MR), but it is a matter of debate whether MR mutations cause mineralcorticoid resistance via haploinsufficiency or dominant negative mechanism. It was previously reported that in a case with nonsense mutation the mutant mRNA was absent in lymphocytes because of nonsense mediated mRNA decay (NMD) and therefore postulated that haploinsufficiency alone can give rise to the PHA1 phenotype in patients with truncated mutations.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-10916075,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-11134129,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-11344206,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-12483305,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-12679457,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-12788847,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-13545877,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-14715854,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-15126534,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-15134810,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-16611713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-16782405,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-16954160,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-16972228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-17287415,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-17414160,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-18332068,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-18501801,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-1939532,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-19571553,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-7673127,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-8589714,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-8640238,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19912655-9662404
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2369
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
37
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pubmed:dateRevised |
2010-9-28
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pubmed:meshHeading |
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pubmed:year |
2009
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pubmed:articleTitle |
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.
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pubmed:affiliation |
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan. apricot_coco@yahoo.co.jp
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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