Evidence map›Paper›PMID 39537978›Full record

ArticleLeukemia2025

A CADASIL NOTCH3 mutation leads to clonal hematopoiesis and expansion of Dnmt3a-R878H hematopoietic clones.

Raúl Sánchez-Lanzas, Justin Barclay, Alexandros Hardas, Foteini Kalampalika, Amanda Jiménez-Pompa, Paolo Gallipoli, Miguel Ganuza

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Leukemia, 2025. 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. 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

7 authors.

Raúl Sánchez-LanzasCentre for Hemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Justin BarclayCentre for Hemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Alexandros HardasRoyal Veterinary College, Hertfordshire, UK.
Foteini KalampalikaCentre for Hemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.ORCID 0000-0002-5565-3928
Amanda Jiménez-PompaCentre for Hemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.ORCID 0000-0001-7625-2616
Paolo GallipoliCentre for Hemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.ORCID 0000-0001-7254-2253
Miguel GanuzaCentre for Hemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK. m.ganuza@qmul.ac.uk.ORCID 0000-0002-1070-7961

Funding

American Society of Hematology (ASH) ASH GRA 2021Kay Kendall Leukaemia Fund (KKLF) KKL1444RCUK | Medical Research Council (MRC) MR/V009222/1
6 · The paper itself

Abstract

Clonal hematopoiesis (CH) is nearly universal in the elderly. The molecular and cellular mechanisms driving CH and the clinical consequences of carrying clonally derived mutant mature blood cells are poorly understood. We recently identified a C223Y mutation in the extracellular domain (ECD) of NOTCH3 as a putative CH driver in mice. Provocatively, germline NOTCH3 ECD mutations perturbing cysteine numbers cause Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a type of vascular dementia, suggesting an unexpected link between CADASIL and CH. Here, we formally demonstrated that mouse hematopoietic stem and progenitor cells (HSPCs) expressing CADASIL-related NOTCH3

Indexed as

CADASILClonal HematopoiesisDNA (Cytosine-5-)-MethyltransferasesHematopoietic Stem CellsMutationReceptor, Notch3AnimalsCell ProliferationClone CellsDNA Methyltransferase 3AHumansMiceDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3ADNMT3A protein, humanDnmt3a protein, mouseNOTCH3 protein, humanNotch3 protein, mouseReceptor, Notch3

Identifiers

PMID39537978
PMCPMC11794143

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.