Evidence map›Paper›PMID 40774570›Full record

ArticleDevelopmental biology2025

Centriolar protein PIBF1 is required for craniofacial and forebrain development.

Lylyan Pimentel, Seungshin Ha, Yanfen Yang, Kim Cochran, Ching-Fang Chang, Scott Houghtaling, Sean K Gombart, David R Beier, Samantha A Brugmann

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In one paragraph

Article in Developmental biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

9 authors.

Lylyan PimentelDivision of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Seungshin HaCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, 98191, USA.
Yanfen YangDivision of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Kim CochranDivision of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Ching-Fang ChangDivision of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Scott HoughtalingCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, 98191, USA.
Sean K GombartCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, 98191, USA.
David R BeierCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, 98191, USA; Depart of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
Samantha A BrugmannDivision of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA; University of Cincinnati, College of Medicine, Department of Pediatrics, Cincinnati, OH, 45229, USA; Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA. Electronic address: samantha.brugmann@cchmc.org.

Funding

Mutagenesis and Murine Embyonic DevelopmentR01HD036404 · NICHD · SEATTLE CHILDREN'S HOSPITAL · PI BEIER, DAVID R. · 1998 to 2020
$8.1M
Harnessing the therapeutic potential of neural crest cells by manipulating the primary ciliumR35DE027557 · NIDCR · CINCINNATI CHILDRENS HOSP MED CTR · PI BRUGMANN, SAMANTHA A · 2017 to 2024
$7.6M
High-resolution ex vivo microCT for biomedical imagingS10OD032302 · OD · SEATTLE CHILDREN'S HOSPITAL · PI MAGA, ALI MURAT · 2022 to 2022
$413k
NICHD NIH HHS R01 HD036404NIDCR NIH HHS R35 DE027557NIH HHS S10 OD032302
6 · The paper itself

Abstract

Primary cilia are microtubule based extensions on the surface of most cells that play a crucial role in cellular signaling during development, tissue homeostasis, and organ function. Defective cilia result in a wide variety of clinical manifestations affecting multiple organ systems, collectively termed ciliopathies. Ciliopathies are rare, exhibit tremendous genetic diversity and an overlap of clinical features, making diagnosis and treatment challenging. Identifying and characterizing novel ciliary variants is critical to gain an improved understanding of ciliopathic pathologies. To address this need, we performed a forward genetic screen using N-ethyl-N-nitrosourea (ENU) mutagenesis and subsequent complementation analysis. We found a novel variant in Pibf1, a gene essential for ciliogenesis and previously linked to the ciliopathy, Joubert syndrome. Pibf1

Indexed as

Craniofacial AbnormalitiesProsencephalonAbnormalities, MultipleAnimalsCerebellumCiliaCiliopathiesEye AbnormalitiesFibroblast Growth Factor 8Gene Expression Regulation, DevelopmentalHedgehog ProteinsHoloprosencephalyKidney Diseases, CysticMiceMice, KnockoutNerve Tissue ProteinsFgf8 protein, mouseFibroblast Growth Factor 8Gli3 protein, mouseHedgehog ProteinsNerve Tissue ProteinsShh protein, mouseTranscription FactorsZinc Finger Protein Gli3CiliopathyCraniofacialHoloprosencephalyPibf1Primary cilia

Identifiers

PMID40774570
PMCPMC13552798

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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.