Evidence map›Paper›PMID 40198378›Full record

ArticleHuman genetics2025

Histone H3K36 methyltransferases NSD1 and SETD2 are required for brain development.

Bo Chen, Chenyang Zhang, Huanwen Rui, Dan Shen, Zhuxi Huang, Weijun Feng

Abstract read
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In one paragraph

Article in Human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Trial
  2. 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

6 authors.

Bo Chen *Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Chenyang Zhang *Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Huanwen RuiDepartment of Neurosurgery, Children's Hospital of Fudan University, Fudan University, Shanghai, 201102, China.
Dan ShenInstitute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Zhuxi HuangInstitute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Weijun FengInstitute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, 200032, China. fengweijun@fudan.edu.cn.

Funding

National Key Research and Development Program of China 2022YFA0806603National Natural Science Foundation of China 82171167
6 · The paper itself

Abstract

Genetic variants in two major histone H3K36 methyltransferases, NSD1 and SETD2, have been identified in patients with neurodevelopmental disorders. We examined the genetic nature of these disease-relevant variants and studied genotype-phenotype correlations using publicly available patient cohorts. To further investigate roles of Nsd1 and Setd2 in brain development, we generated mouse models with conditional knockout of Nsd1 and Setd2 in neuroepithelial cells using the Sox1-cre. Our results showed that conditional Nsd1 knockout mice were viable but exhibited reduced brain size and thinning of neocortex, while Setd2 knockout led to neonatal death with intracerebral hemorrhage and vascular abnormalities. Together, our study demonstrates new roles of Nsd1 and Setd2 in brain development.

Indexed as

BrainHistone-Lysine N-MethyltransferaseNuclear ProteinsAnimalsHistonesHumansMiceMice, KnockoutHistone-Lysine N-MethyltransferaseHistonesNsd1 protein, mouseNuclear ProteinsSETD2 protein, mouse

Identifiers

PMID40198378

What OpenQuestion holds

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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.