Evidence map›Paper›PMID 39201832›Full record

ArticleChildren (Basel, Switzerland)2024

Thirteen New Patients of

Yinmo Jiang, Bingbing Wu, Xi Zhang, Lin Yang, Sujuan Wang, Huiping Li, Shuizhen Zhou, Yanyan Qian, Huijun Wang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Children (Basel, Switzerland), 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

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. Jordan syndrome due toTranslational pediatrics · 2025
    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.

Yinmo JiangCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.
Bingbing WuCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.
Xi ZhangCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.
Lin YangCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.
Sujuan WangDepartment of Rehabilitation, Children's Hospital of Fudan University, Shanghai 201102, China.
Huiping LiDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.
Shuizhen ZhouNeurology Department, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.
Yanyan QianCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.
Huijun WangCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.ORCID 0000-0002-9992-6457

Funding

Research Project of Shanghai Municipal Health Commission 20214Y0441Shanghai Committee of Science and Technology of China 23ZR1407800
6 · The paper itself

Abstract

backgroundNeurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The

methodsClinical/whole exome sequencing was performed on approximately 3000 patients with NDDs from 2017 to 2023. In vitro experiments were performed to assess the impairment of variants to protein expression and the assembly of PP2A holoenzyme. The genetic information and phenotypes of the reported patients, as well as patients in this study, were summarized, and the genotype-phenotype relationship was analyzed. The probability of pathogenic missense variants in PPP2R5D was predicted using AlphaMissense (AM), and the relationship between certain phenotype and 3D protein structural features were analyzed.

resultsThirteen new patients carrying twelve

conclusionsWe reported thirteen new patients with

Indexed as

Houge–Janssens syndrome 1neurodevelopmental disordersprotein phosphatase 2A

Identifiers

PMID39201832
PMCPMC11352527

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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.