Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due...
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study
About this item
Full title
Author / Creator
Kidd, Kendrah O , Williams, Adrienne H , Taylor, Abbigail , Martin, Lauren , Robins, Victoria , Sayer, John A , Olinger, Eric , Mabillard, Holly R , Papagregoriou, Gregory , Deltas, Constantinos , Stavrou, Christoforos , Conlon, Peter J , Hogan, Richard Edmund , Elhassan, Elhussein A E , Springer, Drahomíra , Zima, Tomáš , Izzi, Claudia , Vrbacká, Alena , Piherová, Lenka , Pohludka, Michal , Radina, Martin , Vylet'al, Petr , Hodanova, Katerina , Zivna, Martina , Kmoch, Stanislav and Bleyer, Sr, Anthony J
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD-MUC1 patients produce approximately 50% of normal mucin-1.
To determine whether decreased mucin-1 productio...
Alternative Titles
Full title
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study
Authors, Artists and Contributors
Author / Creator
Williams, Adrienne H
Taylor, Abbigail
Martin, Lauren
Robins, Victoria
Sayer, John A
Olinger, Eric
Mabillard, Holly R
Papagregoriou, Gregory
Deltas, Constantinos
Stavrou, Christoforos
Conlon, Peter J
Hogan, Richard Edmund
Elhassan, Elhussein A E
Springer, Drahomíra
Zima, Tomáš
Izzi, Claudia
Vrbacká, Alena
Piherová, Lenka
Pohludka, Michal
Radina, Martin
Vylet'al, Petr
Hodanova, Katerina
Zivna, Martina
Kmoch, Stanislav
Bleyer, Sr, Anthony J
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_3d847b295ec0416db66c614b4dc045e8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3d847b295ec0416db66c614b4dc045e8
Other Identifiers
ISSN
1471-2369
E-ISSN
1471-2369
DOI
10.1186/s12882-024-03896-1
