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

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

Open Access

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

Author(s) -

Martina Živná,

Kendrah Kidd,

Anna Přistoupilová,

Veronika Barešová,

Mathew DeFelice,

Brendan Blumenstiel,

Maegan Harden,

Peter J. Conlon,

Peter Lavin,

Dervla M. Connaughton,

Hana Hartmannová,

Kateřina Hodaňová,

Viktor Stránecký,

Alena Vrbacká,

Petr Vyleťal,

J Živný,

Miroslav Votruba,

Jana Sovová,

Helena Hůlková,

Victoria Robins,

Rebecca Perry,

Andrea Wenzel,

Bodo B. Beck,

Tomáš Seeman,

Ondřej Viklický,

Sylvie Rajnochová-Bloudíčková,

Gregory Papagregoriou,

Constantinos Deltas,

Seth L. Alper,

Anna Greka,

Anthony J. Bleyer,

Stanislav Kmoch

Publication year - 2018

Publication title -

journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.451

H-Index - 279

eISSN - 1533-3450

pISSN - 1046-6673

DOI - 10.1681/asn.2018020180

Subject(s) - frameshift mutation , immunostaining , immunohistochemistry , pathology , biology , mutation , kidney disease , muc1 , gene duplication , medicine , gene , genetics , endocrinology

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, possibly, by other similar frameshift mutations and to identify novel MUC1 mutations in individuals with positive immunohistochemical staining for the MUC1fs protein.

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