@article{oai:niigata-u.repo.nii.ac.jp:00014727,
 author = {中山, 正成},
 issue = {9},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Sep},
 note = {Alport syndrome is a progressive hereditary renal disorder caused by mutations in the glomerular basement membrane (GBM) type IV collagen genes COL4A3, COL4A4, and COL4A5. However, the pathogenetic mechanism of this disease has not yet been fully understood. To elucidate the molecular nature of Alport syndrome, we generated Col4α4 deficient mice as a mouse model for autosomal form of the disease. These mice developed a progressive glomeruronephritis with microhematuria and proteinuria and died of renal failure at 19±3(mean±SD) weeks of age. Electron microscopic analysis revealed multilaminated thickening and thinning of GBM, which is a characteristic finding of Alport syndrome. Immunofluorescence analysis of GBM showed absence of type N collagen α3, α4, and α5 chains and a persistence of α1 and α2 chains. Northern blot analysis revealed the absence of Col4α4 transcript, whereas mRNAs for the remaining chains were unchanged. In this report, we focused on the degeneration of mutant glomerular epithelial cells. The number of epithelial glomerular cells was significantly decreased and a marker for glomerular epithelial cell injury, Desmin was detected at 8 weeks of age.},
 pages = {452--463},
 title = {アルポート症候群モデルマウスの作成と腎糸球体上皮細胞障害に関する研究},
 volume = {115},
 year = {2001}
}