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rdf:type |
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lifeskim:mentions |
umls-concept:C0013720,
umls-concept:C0015127,
umls-concept:C0026336,
umls-concept:C0205314,
umls-concept:C0332307,
umls-concept:C0340643,
umls-concept:C0591833,
umls-concept:C0679622,
umls-concept:C1314792,
umls-concept:C1413581,
umls-concept:C1708726,
umls-concept:C1801960,
umls-concept:C2936267
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pubmed:issue |
1
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pubmed:dateCreated |
2011-3-17
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pubmed:abstractText |
The vascular type of Ehlers-Danlos syndrome (EDS IV) is an autosomal-dominant disorder characterized by thin translucent skin and extensive bruising. Patients with EDS IV have reduced life expectancy (median 45-50 years) due to spontaneous rupture of arteries (particularly large arteries) or bowel. EDS IV results from mutation of the COL3A1 gene, which encodes the pro-?(1) chains of type III collagen that is secreted into the extracellular matrix, e.g. by smooth muscle cells. A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture. We report a novel, exploitable model of EDS IV in a spontaneously generated mouse line.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-10523481,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-10706896,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-11577371,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-11733403,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-1186882,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-14630726,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-16453315,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-18434745,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-19116663,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-19455184,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-2243125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-3009791,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-3028554,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-407926,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-6146097,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-7665911,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-8182951,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-8243538,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-8757037,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21071432-9050868
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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:month |
Apr
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pubmed:issn |
1755-3245
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
1
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pubmed:volume |
90
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
182-90
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pubmed:dateRevised |
2011-7-26
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pubmed:meshHeading |
pubmed-meshheading:21071432-Aneurysm, Dissecting,
pubmed-meshheading:21071432-Animals,
pubmed-meshheading:21071432-Aortic Aneurysm, Thoracic,
pubmed-meshheading:21071432-Blood Pressure,
pubmed-meshheading:21071432-Collagen Type III,
pubmed-meshheading:21071432-Disease Models, Animal,
pubmed-meshheading:21071432-Ehlers-Danlos Syndrome,
pubmed-meshheading:21071432-Exons,
pubmed-meshheading:21071432-Female,
pubmed-meshheading:21071432-Genetic Predisposition to Disease,
pubmed-meshheading:21071432-Haploinsufficiency,
pubmed-meshheading:21071432-Male,
pubmed-meshheading:21071432-Mice,
pubmed-meshheading:21071432-Mice, 129 Strain,
pubmed-meshheading:21071432-Mice, Inbred C57BL,
pubmed-meshheading:21071432-Mice, Transgenic,
pubmed-meshheading:21071432-Phenotype,
pubmed-meshheading:21071432-Promoter Regions, Genetic,
pubmed-meshheading:21071432-Sequence Deletion
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pubmed:year |
2011
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pubmed:articleTitle |
Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.
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pubmed:affiliation |
MRC Human Reproductive Sciences Unit, The Queen's Medical Research Institute, 47 Little France Crescent, Edinburgh, UK. l.smith@hrsu.mrc.ac.uk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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