| Autor: |
Martina, Živná, Kendrah, Kidd, Anna, Přistoupilová, Veronika, Barešová, Mathew, DeFelice, Brendan, Blumenstiel, Maegan, Harden, Peter, Conlon, Peter, Lavin, Dervla M, Connaughton, Hana, Hartmannová, Kateřina, Hodaňová, Viktor, Stránecký, Alena, Vrbacká, Petr, Vyleťal, Jan, 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 C, Deltas, Seth L, Alper, Anna, Greka, Anthony J, Bleyer, Stanislav, Kmoch |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
J Am Soc Nephrol |
| ISSN: |
1533-3450 |
| Popis: |
Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (We performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD-After technique refinement, the sensitivity and specificity for MUC1fs immunostaining of urinary cell smears were 94.2% and 88.6%, respectively. Further genetic testing on 17 families with positive MUC1fs immunostaining revealed six families with five novelWe 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 |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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