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

doi:10.1681/ASN.2018020180

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Article

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

Journal of the American Society of Nephrology : JASN - 1 Sept 2018

Živná Martina, Kidd Kendrah, Přistoupilová Anna, Barešová Veronika, DeFelice Mathew, Blumenstiel Brendan, Harden Maegan, Conlon Peter, Lavin Peter, Connaughton Dervla M, Hartmannová Hana, Hodaňová Kateřina, Stránecký Viktor, Vrbacká Alena, Vyleťal Petr, Živný Jan, Votruba Miroslav, Sovová Jana, Hůlková Helena, Robins Victoria, Perry Rebecca, Wenzel Andrea, Beck Bodo B, Seeman Tomáš, Viklický Ondřej, Rajnochová-Bloudíčková Sylvie, Papagregoriou Gregory, Deltas Constantinos C, Alper Seth L, Greka Anna, Bleyer Anthony J, Kmoch Stanislav

Abstract excerpt

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (MUC1) mutations (ADTKD-MUC1) is characterized by progressive kidney failure. Genetic evaluation for ADTKD-MUC1 specifically tests for a cytosine duplication that creates a unique frameshift protein (MUC1fs). Our goal was to develop immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and,...

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Identifiers

PMID: 29967284
DOI: 10.1681/ASN.2018020180
PMCID: PMC6115665

Genes

MUC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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