Evidence map›Paper›PMID 34680992›Full record

ArticleGenes2021

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature:

Lisa Gianesello, Jennifer Arroyo, Dorella Del Prete, Giovanna Priante, Monica Ceol, Peter C Harris, John C Lieske, Franca Anglani

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 17% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.

  1. Dent disease: clinical practice recommendations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025
    Guideline
  2. Article
  3. Coexistence of a NovelJournal of clinical medicine · 2026
    Article
  4. The kidney in genetic metabolic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  5. Modelling Lowe syndrome and Dent-2 disease using zebrafish.Frontiers in cell and developmental biology · 2025
    Review
  6. Clinical variation in Lowe syndrome: what and how?Frontiers in cell and developmental biology · 2025
    Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 2 institutions in 2 countries.

Lisa GianeselloKidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.ORCID 0000-0001-9327-397X
Jennifer ArroyoDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
Dorella Del PreteKidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Giovanna PrianteKidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.ORCID 0000-0002-1870-4466
Monica CeolKidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Peter C HarrisDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
John C LieskeDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.ORCID 0000-0002-0202-5944
Franca AnglaniKidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.ORCID 0000-0003-1534-4458
University of Padua · ITMayo Clinic · US

Funding

Primary HyperoxaluriaU54DK083908 · NIDDK · MAYO CLINIC ROCHESTER · PI MILLINER, DAWN SCHMAUTZ · 2009 to 2018
$12.3M
Facilitating personalized medicine of monogenic stone patients by genetic characterizationR21TR003174 · NCATS · MAYO CLINIC ROCHESTER · PI HARRIS, PETER C., LIESKE, JOHN C · 2020 to 2021
$437k
NCATS NIH HHS R21 TR003174NIDDK NIH HHS U54 DK083908
6 · The paper itself

Abstract

Dent disease is a rare X-linked renal tubulopathy due to

Indexed as

AdolescentBiological Variation, PopulationChildChild, PreschoolFemaleGenetic Association StudiesGenetic Diseases, X-LinkedGenetic PleiotropyGenotypeHumansKidneyMaleMutation, MissenseNephrolithiasisOculocerebrorenal SyndromePhenotypeOCRL protein, humanPhosphoric Monoester HydrolasesDent disease 2genotype–phenotype correlationsLowe syndromeOCRL domainsOCRL mutations

Identifiers

PMID34680992
PMCPMC8535715
OpenAlexW3207637712

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.