Seeking molecular mediators of kidney disease through human genetics, genomics, and novel experimental models. @UCSF, @UCSFNephrology

Replying to @kidney_boy
We should limit extrapolating these data to patients undergoing nephrectomy for tumors. Kidney donors are selected for absence of kidney disease and kidney disease risk factors (description of the donors below). Patients undergoing partial nephrectomy don't look like this.
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Polycystic kidney disease is the most common monogenic cause of kidney failure and affects over 10 million individuals. We've known most PKD is caused by mutations in PKD1 for over 30 years. But how PKD1 prevents disease has remained mysterious, limiting effective therapy.
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@GlassockJ Thanks for the feedback! We thought deeply about the limitations of creatinine and cystatin C in this study. That's why we used eGFRcr-cys rather than creatinine and cystatin C alone. We also compared the effect of each locus on eGFRcr and eGFRcys separately.
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