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Publications

Read some publications to learn more about ADTKD, from clinical and genetic descriptions of UMOD, MUC1, REN and SEC61A1 disease to current guidelines and international cohort studies.

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2021

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1ß

Bleyer AJ et al. Pediatr Nephrol, 2021.
- HNF1B

2020

The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1ß Mutations

Bleyer AJ, Kmoch S. Kidney Int Rep, 2020.
- HNF1B
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

Živná M et al. Kidney Int, 2020.
- REN
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Kidd K et al. Kidney Int Rep, 2020.
- UMOD
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Olinger E et al. Kidney Int, 2020.
- UMOD
- MUC1
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease

Cormican S et al. Clin Transplant, 2020.
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases

Bleyer AJ et al. Genet Med, 2020.

2019

Quality of life in patients with autosomal dominant tubulointerstitial kidney disease?

Bleyer AJ et al. Clin Nephrol, 2019.
Autosomal dominant tubulointerstitial kidney disease

Devuyst O et al. Nat Rev Dis Primers, 2019.
- Guidelines
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

Dvela-Levitt M et al. Cell, 2019.

2018

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Živná M et al. J Am Soc Nephrol, 2018.
- MUC1
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation

Yu SM et al. Am J Kidney Dis, 2018.
- MUC1

2017

Autosomal Dominant Tubulointerstitial Kidney Disease

Bleyer AJ et al. Adv Chronic Kidney Dis, 2017.

2016

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Bolar NA et al. Am J Hum Genet, 2016.
- SEC61A1
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease

Blumenstiel B et al. J Mol Diagn, 2016.
Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules!

Bleyer AJ, Kmoch S. Clin J Am Soc Nephrol, 2016.
- UMOD

2015

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

Eckardt KU et al. Kidney Int, 2015.
- Guidelines

2014

Autosomal dominant tubulointerstitial kidney disease: of names and genes

Bleyer AJ, Kmoch S. Kidney Int, 2014.
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

Bleyer AJ et al. Clin J Am Soc Nephrol, 2014.
- MUC1

2013

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Kirby A et al. Nat Genet, 2013.
- MUC1

2011

Uromodulin-associated kidney disease

Bleyer AJ, Zivná M, Kmoch S. Nephron Clin Pract, 2011.
- UMOD

2010

Uromodulin biology and pathophysiology--an update

Vyletal P, Bleyer AJ, Kmoch S. Kidney Blood Press Res, 2010.
- UMOD
Hereditary interstitial kidney disease

Bleyer AJ, Hart PS, Kmoch S. Semin Nephrol, 2010.
Childhood course of renal insufficiency in a family with a uromodulin gene mutation

Schäffer P et al. Pediatr Nephrol, 2010.
- UMOD

2009

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

Zivná M et al. Am J Hum Genet, 2009.
- REN
Improving the recognition of hereditary interstitial kidney disease

Bleyer AJ. J Am Soc Nephrol, 2009.

2005

Mutant Tamm-Horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate

Choi SW et al. J Am Soc Nephrol, 2005.
- UMOD
Clinico-pathologic findings in medullary cystic kidney disease type 2

Bleyer AJ et al. Pediatr Nephrol, 2005.

2004

Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein

Bleyer AJ et al. Kidney Int, 2004.
- UMOD

2003

Renal manifestations of a mutation in the uromodulin (Tamm-Horsfall protein) gene

Bleyer AJ et al. Am J Kidney Dis, 2003.
- UMOD
Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene

Bleyer AJ et al. Kidney Int, 2003.
- UMOD