Evidence map›Paper›PMID 41518077›Full record

ArticleGenesis (New York, N.Y. : 2000)2026

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.

Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genesis (New York, N.Y. : 2000), 2026. 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

11 authors.

Yang LiuCenter for Maternal-Fetal Medicine, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.ORCID 0000-0001-9605-7877
Hui WangCenter for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.ORCID 0000-0002-6260-9511
Liyuan ChenCenter for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Xiaoxia WuCenter for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Zhiyong XuCenter for Maternal-Fetal Medicine, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Qingfa HuangCenter for Maternal-Fetal Medicine, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Hu ZhangCenter for Maternal-Fetal Medicine, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Xiushu CaoCenter for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Xinyuan LiangCenter for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Xingjian ZhongCenter for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.
Caiqun LuoCenter for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University, Shenzhen, Guangdong, China.ORCID 0009-0006-3038-0931

Funding

Natural Science Foundation of Guangdong Province 2021A1515012495Sanming Project of Medicine in Shenzen Municipality SZSM202311005Shenzhen Science and Technology Innovation Commission JCYJ20210324135009024
6 · The paper itself

Abstract

To determine whether TXNDC15 variation causes Meckel-Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR-Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5. Homozygous Txndc15

Indexed as

Ciliary Motility DisordersCRISPR-Cas SystemsEncephaloceleOmphalocelePolycystic Kidney DiseasesProtein Disulfide-IsomerasesRetinitis PigmentosaAnimalsDisease Models, AnimalFemaleFrameshift MutationHomozygoteMicePhenotypeProtein Disulfide-Isomerases

Identifiers

PMID41518077
PMCPMC12789988

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.