Evidence map›Paper›PMID 40008628›Full record

ArticleGenesis (New York, N.Y. : 2000)2025

CACNA1G, A Heterotaxy Candidate Gene, Plays a Role in Ciliogenesis and Left-Right Patterning in Xenopus tropicalis.

Valentyna Kostiuk, Rakib Kabir, Rashid Akbari, Amy Rushing, Delfina P González, Angelina Kim, Ashley Kim, David Zenisek, Mustafa K Khokha

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genesis (New York, N.Y. : 2000), 2025. 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

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

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

9 authors.

Valentyna KostiukPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.ORCID 0000-0003-3405-7518
Rakib KabirPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Rashid AkbariPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Amy RushingPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Delfina P GonzálezPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Angelina KimPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Ashley KimPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
David ZenisekDepartment of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut, USA.
Mustafa K KhokhaPediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
Potassium channels, membrane potential, and CHDR01HL149746 · NHLBI · YALE UNIVERSITY · PI KHOKHA, MUSTAFA K, ZENISEK, DAVID PAUL · 2020 to 2023
$2.3M
The electrophysiological properties of embryos TransferR01HL175982 · NHLBI · YALE UNIVERSITY · PI Mustafa K Khokha · 2024 to 2026
$2.0M
The Role of Auxilin, a Clathrin Uncoating Chaperone, in Congenital Heart Disease and Left-Right PatterningF31HL149246 · NHLBI · YALE UNIVERSITY · PI GONZALEZ, DELFINA PEARLEDITH · 2019 to 2022
$153k
NCATS NIH HHS UL1 TR001863NHLBI NIH HHS F31 HL149246NHLBI NIH HHS R01 HL149746NHLBI NIH HHS R01 HL175982NIGMS NIH HHS T32 GM007205Yale MSTP NIH 5F31HL149246Yale MSTP NIH NIHR01HL149746Yale MSTP NIH T32GM07205
6 · The paper itself

Abstract

Heterotaxy (HTX) is characterized by an abnormality in the organ arrangement along the Left-Right (LR) axis and is caused by the disruption of LR patterning in early development. LR asymmetry is critical for multiple organs. Specifically, proper LR patterning is crucial for cardiac function and is a cause of congenital heart disease (CHD). CACNA1G is a candidate gene identified in patients with CHD and HTX. This gene encodes a T-type, low-voltage-activated calcium channel and is a member of the Cav3.1 channel family. However, its function in cardiac or embryonic development remains unknown. Here, we show that abnormal cacna1g expression in Xenopus tropicalis recapitulates the HTX phenotype found in the patient cohort. By examining early LR patterning markers, including pitx2c and dand5, we discovered that both markers are expressed abnormally, suggesting that LR patterning is disrupted at the earliest stages of the LR signaling cascade. Since cilia have been described as key regulators of LR asymmetry, we checked the process of cilia formation in cacna1g crispants. The LR Organizer (LRO) contained reduced cilia quantity in the cacna1g crispants, which may explain the LR defects. In conclusion, the abnormal expression of cacna1g affects cilia in the LRO, leading to abnormal LR patterning and cardiac looping.

Indexed as

Body PatterningCalcium Channels, T-TypeCiliaHeterotaxy SyndromeXenopusXenopus ProteinsAnimalsGene Expression Regulation, DevelopmentalHomeobox Protein PITX2Homeodomain ProteinsTranscription FactorsCalcium Channels, T-TypeHomeobox Protein PITX2Homeodomain ProteinsTranscription FactorsXenopus Proteinscacna1gciliaheterotaxyleft–right patterningXenopus tropicalis

Identifiers

PMID40008628
PMCPMC11867209

What OpenQuestion holds

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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.