Autosomal dominant tubulointerstitial kidney disease-UMOD: a short review by Panpan Qiao, Zhaohui Wang, Jingyuan Xie

Subjects: “…ADTKD-UMOD…”
Get full text

Serum uromodulin associates with kidney function and outcome in a cohort of hospitalised COVID-19 patients by Ralph Wendt, Martin Macholz, Sven Kalbitz, Nadja Herrmann, Victor Herbst, Tabea Hammes, Marco Kai, Hendrik Jan Ankersmit, Joachim Beige, Christoph Lübbert, Alexandra Graf, Jürgen Scherberich

Subjects: Get full text

Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications by Eloísa Sánchez-Cazorla, Borja Temes-Álvarez, Pilar Oliveros-Martínez, Pedro Fortes-González, María García-Murias, Ana Barcia de la Iglesia, Noa Carrera, Miguel Ángel García-González

Subjects: “…UMOD…”
Get full text

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease by Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst

Subjects: “…ADTKD‐UMOD…”
Get full text

Caracterización de variantes recurrentes de UMOD (p.C255Y y p.Q316P) en una cohorte gallega: correlación genotipo-fenotipo e implicaciones clínicas by Eloísa Sánchez-Cazorla, Borja Temes-Álvarez, Pilar Oliveros-Martínez, Pedro Fortes-González, María García-Murias, Ana Barcia de la Iglesia, Noa Carrera, Miguel Ángel García-González

Subjects: “…UMOD…”
Get full text

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study by Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor, Lauren Martin, Victoria Robins, John A. Sayer, Eric Olinger, Holly R. Mabillard, Gregory Papagregoriou, Constantinos Deltas, Christoforos Stavrou, Peter J. Conlon, Richard Edmund Hogan, Elhussein A.E. Elhassan, Drahomíra Springer, Tomáš Zima, Claudia Izzi, Alena Vrbacká, Lenka Piherová, Michal Pohludka, Martin Radina, Petr Vylet’al, Katerina Hodanova, Martina Zivna, Stanislav Kmoch, Anthony J. Bleyer

Subjects: Get full text

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis by Elhussein A.E. Elhassan, Tereza Kmochová, Katherine A. Benson, Neil K. Fennelly, Veronika Barešová, Kendrah Kidd, Brendan Doyle, Anthony Dorman, Martina M. Morrin, Niamh C. Kyne, Petr Vyleťal, Hana Hartmannová, Kateřina Hodaňová, Jana Sovová, Dita Mušálková, Alena Vrbacká, Anna Přistoupilová, Jan Živný, Klára Svojšová, Martin Radina, Viktor Stránecký, Dmitry Loginov, Petr Pompach, Petr Novák, Zdislava Vaníčková, Hana Hansíková, Silvie Rajnochová-Bloudíčková, Ondřej Viklický, Helena Hůlková, Gianpiero L. Cavalleri, Aleš Hnízda, Anthony J. Bleyer, Stanislav Kmoch, Peter J. Conlon, Martina Živná

Subjects: Get full text