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MUC1

References

Every claim traces to one of these.

Ordered roughly by how useful they are as a starting point. Links resolve to PubMed or NCBI Bookshelf.

  1. Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related

    Bleyer AJ, Kmoch S, Živná M. GeneReviews®, University of Washington, Seattle 2025

    The definitive clinical reference. Start here.

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

    Kirby A, Gnirke A, Jaffe DB, et al. Nature Genetics 2013

    The paper that found the variant everyone else's sequencer was skipping.

  3. Autosomal dominant tubulointerstitial kidney disease

    Devuyst O, Olinger E, Weber S, et al. Nature Reviews Disease Primers 2019

  4. Small molecule targets TMED9 and promotes lysosomal degradation to reverse proteinopathy

    Dvela-Levitt M, Kost-Alimova M, Emani M, et al. Cell 2019

    Mechanistic basis for the first therapeutic strategy aimed at MUC1-fs.

  5. Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel

    Bleyer AJ, Westemeyer M, Xie J, et al. American Journal of Nephrology 2022

  6. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

    Olinger E, Hofmann P, Kidd K, et al. Kidney International 2020

  7. Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing ADTKD

    Živná M, Kidd K, Přistoupilová A, et al. Journal of the American Society of Nephrology 2018

  8. Genetic and Clinical Predictors of Age of ESKD in Individuals With ADTKD-UMOD

    Kidd K, Vylet'al P, Schaeffer C, et al. Kidney International Reports 2020

  9. Diagnostic Utility of Exome Sequencing for Kidney Disease

    Groopman EE, Marasa M, Cameron-Christie S, et al. New England Journal of Medicine 2019

    Why a genetic diagnosis changes management, and how often it reclassifies the chart.

  10. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management — a KDIGO consensus report

    Eckardt KU, Alper SL, Antignac C, et al. Kidney International 2015

    The consensus statement that established the ADTKD nomenclature.