Evidence map›Paper›PMID 41659691›Full record

ArticlebioRxiv : the preprint server for biology2026

Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation.

Lindsay J Bischoff, Chhiring Sherpa, Sandra Schrenk, Elisa Boscolo

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

5 · Who and what money

Authors and funding

4 authors.

Lindsay J BischoffDivision of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Chhiring SherpaDivision of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Sandra SchrenkDivision of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Elisa BoscoloDivision of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID 0000-0002-6996-0419

Funding

Venous Malformations (VM): A Murine Model to Identify Therapies to Target AberranR01HL117952 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI BOSCOLO, ELISA · 2013 to 2025
$4.9M
Pathogenesis of Vascular Anomalies with GNAQ mutationsR01HL167700 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI ELISA BOSCOLO · 2024 to 2026
$1.8M
The Role of c-ABL in Mediating TIE2 Signaling and Formation of Venous MalformationF31HL176101 · NHLBI · UNIVERSITY OF CINCINNATI · PI BISCHOFF, LINDSAY · 2024 to 2025
$93k
NHLBI NIH HHS F31 HL176101NHLBI NIH HHS R01 HL117952NHLBI NIH HHS R01 HL167700
6 · The paper itself

Abstract

Background: The hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase that is essential for vascular development and function, has been found to drive sporadic venous malformation (VM). While germline or early developmental expression of the mutation is thought to be lethal, mosaic or somatic expression is expected to result in VM disease. However, this has never been shown experimentally. Therefore, we utilized a genetic murine model of TIE2 p.L914F to examine the effects of the mutation in the mosaic condition. Results: Using an mTmG reporter mouse, we show that the Conclusions: In this study, we show that mosaic embryonic expression of the VM-causative mutation TIE2 p.L914F causes partial embryonic lethality and the formation of a VM phenotype. This a novel

Indexed as

blood vesselsendothelial cellsmosaicismTIE2 mutationvenous malformation

Identifiers

PMID41659691
PMCPMC12873888

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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.