Linked Life Data

18006163

Source:http://linkedlifedata.com/resource/pubmed/id/18006163

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-1-12
pubmed:databankReference
pubmed:abstractText
In dilated and hypertrophic cardiomyopathies, over ten disease-causing genes have been identified in each entity. In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3) have been shown to cause restrictive cardiomyopathy (RCM). We applied a candidate gene approach and identified a novel one nucleotide deletion, resulting in frame shift and predicted formation of a premature stop codon, deletion of part of exon 7 and all exon 8, and truncation of significant C-terminal portion of TNNI3. Western blot analysis showed approximately 50% reduction of total troponin I content in myocardial tissue. The clinical hallmark was a restrictive type of cardiac hemodynamics, and congestive heart failure, leading to the death of the patient at the age of 28.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1874-1754
pubmed:author
pubmed:issnType
Electronic
pubmed:day
24
pubmed:volume
131
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
410-2
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.
pubmed:publicationType
Letter, Case Reports, Research Support, Non-U.S. Gov't