Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

28 Mar 2025

Abstract excerpt

PTEN hamartoma tumor syndrome (PHTS) is a rare tumor risk disorder caused by germline loss-of-function mutations in PTEN. Half of these patients develop vascular malformations, a hamartoma characterized by overgrowth of vessels. In this study, we harness biopsies and patient-derived endothelial cells (EC) to study the genetic etiology of PHTS-related vascular malformations. We discover that these lesions are...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to PI3K/AKT/mTOR signaling in cancer
Share to Tuberous Sclerosis Complex Research
Share to Vascular Malformations and Hemangiomas

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40152704
DOI: 10.1158/2159-8290.cd-24-0807

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor SyndromePMID 40152704Read ↗

PTEN hamartoma tumor syndrome.Semantic proximity Read ↗

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.Semantic proximity Read ↗

Angiopoietin–TIE2 feedforward circuit promotes PIK3CA-driven venous malformationsSemantic proximity Read ↗

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.Semantic proximity Read ↗

Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.Semantic proximity Read ↗

Low dose AKT inhibitor miransertib cures PI3K-related vascular malformations in preclinical models of human diseaseSemantic proximity Read ↗

The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib.Semantic proximity Read ↗

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.Semantic proximity Read ↗

Genetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation.Semantic proximity Read ↗

Somatic PIK3CA mutations as a driver of sporadic venous malformations.Semantic proximity Read ↗

PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations.Semantic proximity Read ↗

Human vascular organoids with a mosaic <i>AKT1</i> mutation recapitulate Proteus syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.