Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Martina ŽivnáKendrah KiddAnna PřistoupilováVeronika BarešováMathew DeFeliceBrendan BlumenstielMaegan HardenPeter J ConlonPeter LavinDervla M ConnaughtonHana HartmannováKateřina HodaňováViktor StráneckýAlena VrbackáPetr VyleťalJan ŽivnýMiroslav VotrubaJana SovováHelena HůlkováVictoria RobinsRebecca PerryAndrea WenzelBodo B BeckTomáš SeemanOndřej ViklickýSylvie Rajnochová-BloudíčkováGregory PapagregoriouConstantinos C DeltasSeth L AlperAnna GrekaAnthony J BleyerStanislav KmochPublished in: Journal of the American Society of Nephrology : JASN (2018)
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.
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