The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia (MED) is characterized by dwarfism and early-onset osteoarthritis and can result from mutations in the gene encoding matrilin-3 (MATN3). To determine the precise disease mechanisms that underpin the pathophysiology of MED, a knock-in murine model of MED has recently bee...
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University of Manchester
2008
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ndltd-bl.uk-oai-ethos.bl.uk-4928572015-03-20T05:15:30ZThe pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasiaNundlall, Seema2008Multiple epiphyseal dysplasia (MED) is characterized by dwarfism and early-onset osteoarthritis and can result from mutations in the gene encoding matrilin-3 (MATN3). To determine the precise disease mechanisms that underpin the pathophysiology of MED, a knock-in murine model of MED has recently been generated with the disease-causing matn3: V194D mutation. Mice that are homozygous for the mutation (MM) are normal at birth but develop a progressive dysplasia that is characterized by the intracellular retention of mutant matrilin-3. The mutant mice also display a significant decrease in chondrocyte proliferation and dysregulated apoptosis by 3 weeks of age.616.7223University of Manchesterhttp://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.492857Electronic Thesis or Dissertation |
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616.7223 |
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616.7223 Nundlall, Seema The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia |
| description |
Multiple epiphyseal dysplasia (MED) is characterized by dwarfism and early-onset osteoarthritis and can result from mutations in the gene encoding matrilin-3 (MATN3). To determine the precise disease mechanisms that underpin the pathophysiology of MED, a knock-in murine model of MED has recently been generated with the disease-causing matn3: V194D mutation. Mice that are homozygous for the mutation (MM) are normal at birth but develop a progressive dysplasia that is characterized by the intracellular retention of mutant matrilin-3. The mutant mice also display a significant decrease in chondrocyte proliferation and dysregulated apoptosis by 3 weeks of age. |
| author |
Nundlall, Seema |
| author_facet |
Nundlall, Seema |
| author_sort |
Nundlall, Seema |
| title |
The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia |
| title_short |
The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia |
| title_full |
The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia |
| title_fullStr |
The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia |
| title_full_unstemmed |
The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia |
| title_sort |
pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia |
| publisher |
University of Manchester |
| publishDate |
2008 |
| url |
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.492857 |
| work_keys_str_mv |
AT nundlallseema thepathomolecularmechanismsinamurinemodelofmultipleepiphysealdysplasia AT nundlallseema pathomolecularmechanismsinamurinemodelofmultipleepiphysealdysplasia |
| _version_ |
1716789598120574976 |