Evidence map›Paper›PMID 41073431›Full record

ArticleTranslational psychiatry2025

Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.

Chaobiao Xue, Haiyun Xu, Xiuyuan Huang, Miaotong Su, Lifang He, Guangping Zhang, Zhexuan Lin, Hui Li, Xiaohong Hong, Shaoxian Chen and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational psychiatry, 2025. 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

16 authors.

Chaobiao Xue *Bio-analytical Laboratory, Shantou University Medical College, Shantou, China.ORCID http://orcid.org/0009-0009-0405-2039
Haiyun Xu *School of Mental Health, Wenzhou Medical University, Wenzhou, China.
Xiuyuan HuangMental Health Center, Shantou University Medical College, Shantou, China.
Miaotong SuDepartment of Pathology, Shantou University Medical College, Shantou, China.
Lifang HeBreast Center, Cancer Hospital of Shantou University Medical College, Shantou, China.
Guangping ZhangDepartment of Pathology, Shantou University Medical College, Shantou, China.
Zhexuan LinBio-analytical Laboratory, Shantou University Medical College, Shantou, China.
Hui LiBio-analytical Laboratory, Shantou University Medical College, Shantou, China.
Xiaohong HongMental Health Center, Shantou University Medical College, Shantou, China.
Shaoxian ChenDepartment of Medical Imaging, Shantou Central Hospital, Shantou, China.
Zhuozhi DaiDepartment of Medical Imaging, Shantou Central Hospital, Shantou, China.
Tongtong CaiDepartment of Neurological Medicine, Shantou Central Hospital, Shantou, China.
Can ChenDepartment of Psychological Medicine, Shantou Central Hospital, Shantou, China.
Yun LinDepartment of Psychological Medicine, Shantou Central Hospital, Shantou, China.
Guohong ZhangDepartment of Pathology, Shantou University Medical College, Shantou, China. g_ghzhang@stu.edu.cn.ORCID http://orcid.org/0000-0002-3856-3111
Wenhong LuoBio-analytical Laboratory, Shantou University Medical College, Shantou, China. whluo@stu.edu.cn.ORCID http://orcid.org/0000-0003-1832-6925

Funding

National Natural Science Foundation of China (National Science Foundation of China) 31671183National Natural Science Foundation of China (National Science Foundation of China) 81573510National Natural Science Foundation of China (National Science Foundation of China) 81971256National Natural Science Foundation of China (National Science Foundation of China) 81972923
6 · The paper itself

Abstract

This study aimed to explore the neurobiological mechanism underlying intellectual disability (ID) in patients with Waardenburg syndrome (WS) identified in a Chinese family. The proband was initially diagnosed with severe ID and then 10 of the 11 extended family members underwent further medical examinations (I-1 declined to be examined). Whole-exome sequencing (WES) revealed that 6 (II-1, II-3, III-1, III-4, III-5, and III-6) of the members share the pathogenic variant of c.230 C > G of SNAI2 (also known as SLUG), a causing gene of WS. All of the mutation carriers in the third generation presented moderate to severe ID, along with severe anxiety, mild level of depression, and serious social dysfunction. But they did not show any signs of hearing loss and heterochromia iris, which are considered features of WS. Animal experiments with Snai2

Indexed as

AstrocytesIntellectual DisabilitySnail Family Transcription FactorsWaardenburg SyndromeAdultAnimalsDisease Models, AnimalExome SequencingFemaleHumansMaleMiceMice, KnockoutPedigreeSNAI2 protein, humanSnai2 protein, mouseSnail Family Transcription Factors

Identifiers

PMID41073431
PMCPMC12514258

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Registered trials

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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.