Holly R. Mabillard

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 26 publications

Uromodulin T62P variant causes kidney tubular stress and injury modulated by age and polygenic risk.

Uromodulin T62P variant causes kidney tubular stress and injury modulated by age and polygenic risk.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2026

Anti-Glomerular Basement Membrane Nephritis Post-Renal Transplant in Alport Syndrome Patients.

Anti-Glomerular Basement Membrane Nephritis Post-Renal Transplant in Alport Syndrome Patients.

Journal: Kidney360

Published: January 14, 2026

Lipocalin-2 Is Induced by Uromodulin Aggregates without Affecting Kidney Disease Progression in Autosomal Dominant Tubulointerstitial Kidney Disease- UMOD.

Lipocalin-2 Is Induced by Uromodulin Aggregates without Affecting Kidney Disease Progression in Autosomal Dominant Tubulointerstitial Kidney Disease- UMOD.

Journal: Journal of the American Society of Nephrology : JASN

Published: November 28, 2025

Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant.

Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant.

Journal: Journal of rare diseases (Berlin, Germany)

Published: May 29, 2025

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.

Journal: Journal of cell science

Published: May 10, 2025

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Journal: Clinical science (London, England : 1979)

Published: January 22, 2025

GLP-1 receptor agonists-another promising therapy for Alport syndrome?

GLP-1 receptor agonists-another promising therapy for Alport syndrome?

Journal: Journal of rare diseases (Berlin, Germany)

Published: October 22, 2024

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

Journal: Genes

Published: August 02, 2024

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Journal: BMC nephrology

Published: July 10, 2024

Explaining Alport syndrome-lessons from the adult nephrology clinic.

Explaining Alport syndrome-lessons from the adult nephrology clinic.

Journal: Journal of rare diseases (Berlin, Germany)

Published: May 24, 2023

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.

Journal: Molecular genetics & genomic medicine

Published: February 11, 2023

Showing 1-12 of 26

Last Updated: 09/26/2026