Autosomal dominant tubulointerstitial kidney disease

O Devuyst, E Olinger, S Weber, KU Eckardt… - Nature Reviews …, 2019 - nature.com
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …

Uromodulin: from physiology to rare and complex kidney disorders

O Devuyst, E Olinger, L Rampoldi - Nature Reviews Nephrology, 2017 - nature.com
Uromodulin (also known as Tamm-Horsfall protein) is exclusively produced in the kidney
and is the most abundant protein in normal urine. The function of uromodulin remains …

Uromodulin: roles in health and disease

C Schaeffer, O Devuyst… - Annual review of …, 2021 - annualreviews.org
Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary
protein in physiological conditions. Already described several decades ago, uromodulin has …

[HTML][HTML] Endoplasmic reticulum stress in the pathogenesis of fibrotic disease

JA Kropski, TS Blackwell - The Journal of clinical …, 2018 - Am Soc Clin Investig
Eukaryotic cells contain an elegant protein quality control system that is crucial in
maintaining cellular homeostasis; however, dysfunction of this system results in …

[HTML][HTML] Uromodulin is expressed in the distal convoluted tubule, where it is critical for regulation of the sodium chloride cotransporter NCC

N Tokonami, T Takata, J Beyeler, I Ehrbar, A Yoshifuji… - Kidney international, 2018 - Elsevier
Uromodulin, the most abundant protein in normal urine, is essentially produced by the cells
lining the thick ascending limb. There it regulates the activity of the cotransporter NKCC2 …

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

E Olinger, C Schaeffer, K Kidd… - Proceedings of the …, 2022 - National Acad Sciences
The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein
excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant …

[PDF][PDF] High-resolution Slide-seqV2 spatial transcriptomics enables discovery of disease-specific cell neighborhoods and pathways

JL Marshall, T Noel, QS Wang, H Chen, E Murray… - Iscience, 2022 - cell.com
High-resolution spatial transcriptomics enables mapping of RNA expression directly from
intact tissue sections; however, its utility for the elucidation of disease processes and …

Role of uromodulin in salt-sensitive hypertension

S Mary, P Boder, S Padmanabhan, MW McBride… - …, 2022 - Am Heart Assoc
The exclusive expression of uromodulin in the kidneys has made it an intriguing protein in
kidney and cardiovascular research. Genome-wide association studies discovered variants …

[HTML][HTML] Meta-GWAS reveals novel genetic variants associated with urinary excretion of uromodulin

CB Joseph, M Mariniello, A Yoshifuji… - Journal of the …, 2022 - journals.lww.com
Background Uromodulin, the most abundant protein excreted in normal urine, plays major
roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of …

Mechanism of fibrosis in HNF1B-related autosomal dominant tubulointerstitial kidney disease

SC Chan, Y Zhang, A Shao, S Avdulov… - Journal of the …, 2018 - journals.lww.com
Background Mutation of HNF1B, the gene encoding transcription factor HNF-1β, is one
cause of autosomal dominant tubulointerstitial kidney disease, a syndrome characterized by …