Evidence map›Paper›PMID 42618573›Full record

ArticleNature communications2026

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Yu Ishimoto, Luis F Menezes, Naoki Nakaya, Karla Barbosa-Sabanero, Yukihiro Horie, Teruhiko Yoshida, Jeff M Reece, Fang Zhou, Stanislav Tomarev, Laura Kerosuo and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Yu IshimotoNational Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-5773-8637
Luis F MenezesNational Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-2225-168X
Naoki NakayaNational Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-2200-5200
Karla Barbosa-SabaneroNational Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-9259-2861
Yukihiro HorieNational Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-7915-1076
Teruhiko YoshidaNational Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-2049-7347
Jeff M ReeceNational Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-0442-1473
Fang ZhouNational Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, USA.
Stanislav TomarevNational Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-3042-8502
Laura KerosuoNational Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Gregory G GerminoNational Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, USA. germinogg@nih.gov.ORCID http://orcid.org/0000-0002-3609-5588

Funding

The role of PKD proteins in regulating tubular morphologyZIADK075042 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI GERMINO, GREGORY · 2010 to 2025
$23.3M
Neural Crest Development and DiseaseZIADE000748 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI KEROSUO, LAURA · 2018 to 2025
$11.5M
Molecular Genetics Of Early Eye DevelopmentZIAEY000311 · NEI · NATIONAL EYE INSTITUTE · PI TOMAREV, STANISLAV I · 2009 to 2025
$10.6M
Intramural NIH HHS ZIA DE000748Intramural NIH HHS ZIA DK075042Intramural NIH HHS ZIA EY000311U.S. Department of Health & Human Services | NIH | National Eye Institute (NEI) ZIA EY000311U.S. Department of Health & Human Services | NIH | National Institute of Dental and Craniofacial Research (NIDCR) ZIA DE000748U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases) ZIA DK075042
6 · The paper itself

Abstract

Genome-wide association studies report single nucleotide polymorphisms (SNPs) in the PKHD1-TFAP2B genomic interval are associated with primary open-angle glaucoma (POAG) but do not distinguish the causal gene. While neural crest cell (NCC)-specific Tfap2b inactivation causes anterior segment dysgenesis (ASD) and congenital glaucoma (CG), PKHD1 mutations cause autosomal recessive polycystic kidney disease. We now show that Pkhd1

Indexed as

Eye AbnormalitiesTranscription Factor AP-2AnimalsAnterior Eye SegmentFemaleGene DeletionMaleMiceMice, Inbred C57BLMice, KnockoutPolymorphism, Single NucleotideTfap2b protein, mouseTranscription Factor AP-2

Identifiers

PMID42618573
PMCPMC13490598

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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.