Evidence map›Paper›PMID 39959475›Full record

ArticleHeliyon2025

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Yizhao Luan, Peng Li, Yuanyuan Luo, Hong Zhang, Xiaochun Zhu, Yan Zhang, Aihua Yin, Qiang Wu, Chengwei Chai

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Heliyon, 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

9 authors.

Yizhao LuanPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangzhou Key Laboratory of Prenatal Screening and Diagnosis, Guangdong Women and Children Hospital, Guangzhou, 511442, China.
Peng LiDepartment of Pediatric General Surgery, Guangdong Women and Children Hospital, Guangzhou, 511442, China.
Yuanyuan LuoDepartment of Pediatric Surgery, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.
Hong ZhangDepartment of Pediatric Surgery, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.
Xiaochun ZhuDepartment of Pediatric General Surgery, Guangdong Women and Children Hospital, Guangzhou, 511442, China.
Yan ZhangPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangzhou Key Laboratory of Prenatal Screening and Diagnosis, Guangdong Women and Children Hospital, Guangzhou, 511442, China.
Aihua YinPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangzhou Key Laboratory of Prenatal Screening and Diagnosis, Guangdong Women and Children Hospital, Guangzhou, 511442, China.
Qiang WuDepartment of Pediatric Surgery, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.
Chengwei ChaiDepartment of Pediatric General Surgery, Guangdong Women and Children Hospital, Guangzhou, 511442, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial clinical and genetic heterogeneity were observed in CDC patients. Large efforts have been dedicated to correlating the deleted regions on 5p arm with observed symptoms in CDC patients. However, the genetic basis of many specific phenotypes, including the co-occurrence of Hirschsprung Disease (HSCR), have yet been clarified. Here, we conducted a study on two patients with CDC and HSCR using whole genome sequencing (WGS) analyses. Our WGS data confirmed the deletion regions on 5p associated with CDC and indicated potential unknown genetic mechanisms underlying HSCR. On the one hand, leveraging human single-cell atlas for developing enteric nervous system, we demonstrated that some affected genes in these two patients overlapped with those showing expression changes along the development pseudotime of enteric nervous cells (ENC) and overlapped with known HSCR genes including

Identifiers

PMID39959475
PMCPMC11830294

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.