Article
Spontaneous calcification process in primary renal cells from a medullary sponge kidney patient harbouring a GDNF mutation.
Journal of cellular and molecular medicine - 1 Apr 2015
Mezzabotta Federica, Cristofaro Rosalba, Ceol Monica, Del Prete Dorella, Priante Giovanna, Familiari Alessandra, Fabris Antonia, D'Angelo Angela, Gambaro Giovanni, Anglani Franca
Abstract excerpt
Medullary nephrocalcinosis is a hallmark of medullary sponge kidney (MSK). We had the opportunity to study a spontaneous calcification process in vitro by utilizing the renal cells of a patient with MSK who was heterozygous for the c.-27 + 18G>A variant in the GDNF gene encoding glial cell-derived neurotrophic factor. The cells were obtained by collagenase digestion of papillary tissues from the MSK patient and...
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