Evidence map›Paper›PMID 29967284›Full record

ArticleJournal of the American Society of Nephrology : JASN2018

Noninvasive Immunohistochemical Diagnosis and Novel

Martina Živná, Kendrah Kidd, Anna Přistoupilová, Veronika Barešová, Mathew DeFelice, Brendan Blumenstiel, Maegan Harden, Peter Conlon, Peter Lavin, Dervla M Connaughton and 22 more

Erratum issued Registry-linked trialOpen access · greenAbstract readMulticenter Study
In one paragraph

Article in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT03747523 (Study of the Effect of Ergocalciferol on Plasma and Urinary Mucin-1 Levels in Healthy Individuals and Individuals With Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutations), which is not on this map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
4.0field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03747523 early_phase1completednot on this mapstarted 2019, after this paper: background citation

Study of the Effect of Ergocalciferol on Plasma and Urinary Mucin-1 Levels in Healthy Individuals and Individuals With Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutations (ADTKD-MUC1)

TypeinterventionalSponsorWake Forest University Health SciencesRan2019 to 2020Enrolled44ConditionsErgocalciferolArmsErgocalciferol
3 · Its place in the literature

Who cites it

31 citing papers in PubMed, 53 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Long-Read Sequencing of thebioRxiv : the preprint server for biology · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Clinical kidney journal · 2025
    Article
  12. Observational
  13. A Novel MonoallelicKidney international reports · 2024
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2023
    Article
  19. Review
  20. Autosomal dominant tubulointerstitial kidney disease: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

32 authors at 10 institutions in 6 countries.

Martina ŽivnáResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Kendrah KiddSection on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
Anna PřistoupilováResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Veronika BarešováResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Mathew DeFeliceBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
Brendan BlumenstielBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
Maegan HardenBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
Peter ConlonDepartment of Nephrology, Beaumont Hospital, Dublin, Ireland.ORCID 0000-0001-6772-9531
Peter LavinTrinity Health Kidney Centre, Tallaght Hospital, Dublin, Ireland.
Dervla M ConnaughtonDepartment of Nephrology, Beaumont Hospital, Dublin, Ireland.
Hana HartmannováResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Kateřina HodaňováResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Viktor StráneckýResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Alena VrbackáResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Petr VyleťalResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Jan ŽivnýInstitute of Pathophysiology, First Faculty of Medicine.
Miroslav VotrubaResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Jana SovováResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Helena HůlkováResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Victoria RobinsSection on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
Rebecca PerrySection on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
Andrea WenzelCenter for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
Bodo B BeckCenter for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
Tomáš SeemanDepartment of Paediatrics, Second Faculty of Medicine, Charles University, Prague, Czech Republic.
Ondřej ViklickýNephrology Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Sylvie Rajnochová-BloudíčkováNephrology Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Gregory PapagregoriouMolecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
Constantinos C DeltasMolecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
Seth L AlperDivision of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Anna GrekaBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
Anthony J BleyerResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, ableyer@wakehealth.edu.
Stanislav KmochResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
Broad Institute · USWake Forest University · USInstitute of Clinical and Experimental Medicine · CZUniversity of Cologne · DEBeaumont Hospital · IEBeth Israel Deaconess Medical Center · USCharles University · CZResearch Institute of General Pathology and Pathophysiology, the Russian Academy of Medical Sciences · RURoyal College of Surgeons in Ireland · IETallaght University Hospital · IE

Funding

Genetic Variation in Age of Onset of Kidney Failure in Uromodulin Kidney DiseaseR21DK106584 · NIDDK · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI BLEYER, ANTHONY J · 2015 to 2016
$426k
NIDDK NIH HHS R21 DK106584
6 · The paper itself

Abstract

backgroundAutosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (

methodsWe performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD-

resultsAfter technique refinement, the sensitivity and specificity for MUC1fs immunostaining of urinary cell smears were 94.2% and 88.6%, respectively. Further genetic testing on 17 families with positive MUC1fs immunostaining revealed six families with five novel

conclusionsWe developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD-

Indexed as

Biopsy, NeedleCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansImmunohistochemistryIncidenceMaleMucin-1MutationPedigreePolycystic Kidney, Autosomal DominantPrognosisRegistriesRetrospective StudiesRisk AssessmentMUC1 protein, humanMucin-1Autosomal Dominant Tubulo-Interstitial Kidney DiseasediagnosisimmunostainingInheritedkidney diseaseMUC1Mucin-1 Kidney Disease

Identifiers

PMID29967284
PMCPMC6115665
OpenAlexW2810769894

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.