Kristina Fiore, friend of nephrology social media did a really nice post about NephJC.
Flattering coverage of the first NephJC
Meta
NephJC needs your help. Time to open your wallet and help keep the lights on at NephJC HQ. Also score some pretty fly NephJC fleece, hats and tote bags. (Yeah, we know that there has never been a “fly” tote bag. Work with us.
Background
Some cases of ADTKD are due to mutations of the MUC-1 gene, one mutation is a frame shift mutation that results in a premature stop codon. which results in accumulation of the abnormally short, and toxic protein MUC-1 fs . The researchers found a small protein, BRD4780, that reroute MUC-1fs to lysosomes, preventing proteinopathy and possibly altering the natural history of the disease.
Background
This week is a joint #DermJC and #NephJC. We will discuss two articles - here is the summary of the larger case series, from Vandana Niyyar.
