Article
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
The Journal of pathology - 1 May 2014
Bull Katherine R, Mason Thomas, Rimmer Andrew J, Crockford Tanya L, Silver Karlee L, Bouriez-Jones Tiphaine, Hough Tertius A, Chaudhry Shirine, Roberts Ian S D, Goodnow Christopher C, Cornall Richard J
Abstract excerpt
The study of mutations causing the steroid-resistant nephrotic syndrome in children has greatly advanced our understanding of the kidney filtration barrier. In particular, these genetic variants have illuminated the roles of the podocyte, glomerular basement membrane and endothelial cell in glomerular filtration. However, in a significant number of familial and early onset cases, an underlying mutation cannot be...
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