Evidence map›Paper›PMID 42246060›Full record

ArticleCirculation2026

Aberrant Phase Separation of Endothelial MAML1 Causes Congenital Heart Disease by Suppressing Notch Activity.

Zizheng Tan, Yue Qi, Yujia Chen, Liang Zhang, Chao Li, Bingkun Lei, Ziqi Xiao, Jingyan Zhang, Lei Lu, Hongyan Wang

Abstract read
In one paragraph

Article in Circulation, 2026. 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

10 authors.

Zizheng Tan *Shanghai Key Laboratory of Metabolic Remodeling and Health, State Key Laboratory of Genetics and Development of Complex Phenotypes, and Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China (Z.T., Y.C., Z.X., J.Z., L.L., H.W.).ORCID 0000-0001-7957-9091
Yue Qi *Obstetrics & Gynecology Hospital of Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, China (Z.T., Y.Q., L.Z., C.L., B.L., H.W.).ORCID 0009-0008-8151-6231
Yujia ChenShanghai Key Laboratory of Metabolic Remodeling and Health, State Key Laboratory of Genetics and Development of Complex Phenotypes, and Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China (Z.T., Y.C., Z.X., J.Z., L.L., H.W.).
Liang ZhangObstetrics & Gynecology Hospital of Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, China (Z.T., Y.Q., L.Z., C.L., B.L., H.W.).ORCID 0009-0001-5804-778X
Chao LiObstetrics & Gynecology Hospital of Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, China (Z.T., Y.Q., L.Z., C.L., B.L., H.W.).
Bingkun LeiObstetrics & Gynecology Hospital of Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, China (Z.T., Y.Q., L.Z., C.L., B.L., H.W.).
Ziqi XiaoShanghai Key Laboratory of Metabolic Remodeling and Health, State Key Laboratory of Genetics and Development of Complex Phenotypes, and Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China (Z.T., Y.C., Z.X., J.Z., L.L., H.W.).ORCID 0009-0000-9174-6243
Jingyan ZhangShanghai Key Laboratory of Metabolic Remodeling and Health, State Key Laboratory of Genetics and Development of Complex Phenotypes, and Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China (Z.T., Y.C., Z.X., J.Z., L.L., H.W.).ORCID 0009-0008-4624-1527
Lei LuShanghai Key Laboratory of Metabolic Remodeling and Health, State Key Laboratory of Genetics and Development of Complex Phenotypes, and Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China (Z.T., Y.C., Z.X., J.Z., L.L., H.W.).ORCID 0000-0002-1528-6123
Hongyan WangShanghai Key Laboratory of Metabolic Remodeling and Health, State Key Laboratory of Genetics and Development of Complex Phenotypes, and Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China (Z.T., Y.C., Z.X., J.Z., L.L., H.W.).ORCID 0000-0002-9422-5264

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital heart disease (CHD), the most common birth defect and a leading cause of infant mortality, is frequently linked to dysregulated Notch signaling. However, the role of the Notch transcriptional coactivator Mastermind-like 1 (MAML1) in CHD pathogenesis and the underlying molecular mechanism remain unclear.

methodsWe investigated the role of MAML1 in CHD by focusing on a patient-derived Q401K mutation with a knock-in mouse model and an endocardium-specific

resultsIn a clinical cohort of patients with CHD, we identified rare missense variants of

conclusionsThese findings support

Indexed as

DNA-Binding ProteinsHeart Defects, CongenitalReceptor, Notch1Receptors, NotchTranscription FactorsAnimalsHumansMiceMice, KnockoutMutation, MissenseNuclear ProteinsPhase SeparationSignal TransductionDNA-Binding ProteinsMAML1 protein, humanMaml1 protein, mouseNuclear ProteinsReceptor, Notch1Receptors, NotchTranscription Factorsorganoidsphase separation

Identifiers

PMID42246060
PMCPMC13480324

What Socratic holds

Textmetadata
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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 Socratic graph.