Article
Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background.
Scientific reports - 31 Dec 2019
Falcone Sara, Wisby Laura, Nicol Thomas, Blease Andrew, Starbuck Becky, Parker Andrew, Sanderson Jeremy, Brown Steve D M, Scudamore Cheryl L, Pusey Charles D, Tam Frederick W K, Potter Paul K
Abstract excerpt
The link between mutations in collagen genes and the development of Alport Syndrome has been clearly established and a number of animal models, including knock-out mouse lines, have been developed that mirror disease observed in patients. However, it is clear from both patients and animal models that the progression of disease can vary greatly and can be modified genetically. We have identified a point mutation...
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