Evidence map›Paper›PMID 39263856›Full record

ArticleDisease models & mechanisms2024

A prioritization tool for cilia-associated genes and their in vivo resources unveils new avenues for ciliopathy research.

Robert E Van Sciver, Tamara Caspary

Abstract read
In one paragraph

Article in Disease models & mechanisms, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

1 citing paper in PubMed.

  1. Article
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

2 authors.

Robert E Van SciverDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0002-1818-2661
Tamara CasparyDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0002-6579-7589

Funding

IRACDA Fellowships in Research and Science Training (FIRST)K12GM000680 · NIGMS · EMORY UNIVERSITY · PI BROWN, LOU ANN S, MCCARTY, NAEL A · 2000 to 2024
$41.2M
Genetic Dissection of Signaling and CiliaR35GM148416 · NIGMS · EMORY UNIVERSITY · PI TAMARA J. CASPARY · 2023 to 2026
$2.1M
Genetic dissection of ciliary ARL13B in kidney cystogenesisR01DK128902 · NIDDK · EMORY UNIVERSITY · PI CASPARY, TAMARA J. · 2022 to 2024
$688k
The critical ciliary role of ARL13B in kidney cystogenesisF32DK127848 · NIDDK · EMORY UNIVERSITY · PI VAN SCIVER, ROBERT E · 2020 to 2023
$286k
National Science Foundation BIO DFG 2329634NIDDK NIH HHS F32 DK127848NIDDK NIH HHS F32DK127848NIDDK NIH HHS R01 DK128902NIDDK NIH HHS R01DK128902NIGMS NIH HHS K12 GM000680NIGMS NIH HHS K12GM000680NIGMS NIH HHS R35 GM148416NIGMS NIH HHS R35GM148416
6 · The paper itself

Abstract

Defects in ciliary signaling or mutations in proteins that localize to primary cilia lead to a class of human diseases known as ciliopathies. Approximately 10% of mammalian genes encode cilia-associated proteins, and a major gap in the cilia research field is knowing which genes to prioritize to study and finding the in vivo vertebrate mutant alleles and reagents available for their study. Here, we present a unified resource listing the cilia-associated human genes cross referenced to available mouse and zebrafish mutant alleles, and their associated phenotypes, as well as expression data in the kidney and functional data for vertebrate Hedgehog signaling. This resource empowers researchers to easily sort and filter genes based on their own expertise and priorities, cross reference with newly generated -omics datasets, and quickly find in vivo resources and phenotypes associated with a gene of interest.

Indexed as

CiliaCiliopathiesAllelesAnimalsDatabases, GeneticHedgehog ProteinsHumansMiceMutationPhenotypeSignal TransductionZebrafishHedgehog ProteinsCiliaMouse allelesPolycystic kidney diseaseSystematic phenotypingZebrafish mutants

Identifiers

PMID39263856
PMCPMC11512102

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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.