Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Conclusions
We developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD-MUC1.

Source: Journal of the American Society of Nephrology : JASN - August 31, 2018 Category: Urology & Nephrology Authors: Zivna, M., Kidd, K., Pristoupilova, A., Baresova, V., DeFelice, M., Blumenstiel, B., Harden, M., Conlon, P., Lavin, P., Connaughton, D. M., Hartmannova, H., Hodanova, K., Stranecky, V., Vrbacka, A., Vyletal, P., Zivny, J., Votruba, M., Sovova, J., Hulkova Tags: Clinical Research Source Type: research