|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
18
|
|
pubmed:dateCreated |
1990-10-24
|
|
pubmed:abstractText |
Osteogenesis imperfecta type I is a mild, dominantly inherited, connective tissue disorder characterized by bone fragility. Mutations in type I collagen account for all known cases. In Mov-13 mice, integration of a murine retrovirus within the first intron of the alpha 1(I) collagen gene results in a null allele blocked at the level of transcription. This study demonstrates that mutant mice heterozygous for the null allele are a model of osteogenesis imperfecta type I. A defect in type I collagen production is associated with dominant-acting morphological and functional defects in mineralized and nonmineralized connective tissue and with progressive hearing loss. The model provides an opportunity to investigate the effect of a reduced amount of type I collagen on the structure and integrity of extracellular matrix. It also may represent a system in which therapeutic strategies to strengthen connective tissue can be developed.
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-1184645,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-1220811,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2295701,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2442619,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2450280,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2541924,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2794057,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2795328,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2981217,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2981871,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-2989695,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-3170557,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-3663130,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-3722184,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-3722186,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-3758483,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-3827862,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-3960120,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-4192837,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-5838080,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6088079,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6308457,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6324198,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6419811,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6467375,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6671988,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6727948,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-6954526,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-7062527,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-7285446,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2402497-75372
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Sep
|
|
pubmed:issn |
0027-8424
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
87
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
N
|
|
pubmed:pagination |
7145-9
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:2402497-Animals,
pubmed-meshheading:2402497-Brain Stem,
pubmed-meshheading:2402497-Cell Line,
pubmed-meshheading:2402497-Collagen,
pubmed-meshheading:2402497-Evoked Potentials, Auditory,
pubmed-meshheading:2402497-Female,
pubmed-meshheading:2402497-Genes, Dominant,
pubmed-meshheading:2402497-Humans,
pubmed-meshheading:2402497-Male,
pubmed-meshheading:2402497-Mice,
pubmed-meshheading:2402497-Mice, Transgenic,
pubmed-meshheading:2402497-Mutation,
pubmed-meshheading:2402497-Osteogenesis Imperfecta,
pubmed-meshheading:2402497-Reference Values,
pubmed-meshheading:2402497-Skin
|
|
pubmed:year |
1990
|
|
pubmed:articleTitle |
Transgenic mouse model of the mild dominant form of osteogenesis imperfecta.
|
|
pubmed:affiliation |
Howard Hughes Medical Institute, Department of Pathology, University of Michigan, Ann Arbor 48109-0650.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
