Evidence map›Paper›PMID 38618955›Full record

ReviewThe Journal of clinical investigation2024

Capillary malformations.

Adrienne M Hammill, Elisa Boscolo

Abstract readReview
In one paragraph

Review in The Journal of clinical investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
–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

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Article
  4. Review
  5. Article
  6. Review
  7. MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  8. Article
  9. Targeted Therapies for Slow-Flow Vascular Malformations.The Australasian journal of dermatology · 2025
    Review
  10. EndothelialFrontiers in cell and developmental biology · 2025
    Article
  11. Article
  12. Similarities and differences between brain and skinbioRxiv : the preprint server for biology · 2024
    Article
  13. Review
  14. Article
  15. 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

2 authors.

Adrienne M HammillDivision of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Elisa BoscoloDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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
NHLBI NIH HHS R01 HL117952NHLBI NIH HHS R01 HL167700
6 · The paper itself

Abstract

Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit α (Gαq) in CM and SWS patient tissues. In this Review, we discuss the disease phenotype, the causative GNAQ mutations, and their cellular origin. We also present the endothelial Gαq-related signaling pathways, the current animal models to study CM and its complications, and future options for therapeutic treatment. Further work remains to fully elucidate the cellular and molecular mechanisms underlying the formation and maintenance of the abnormal vessels.

Indexed as

GlaucomaVascular MalformationsAnimalsCapillariesHumansInfant, NewbornModels, AnimalMutation

Identifiers

PMID38618955
PMCPMC11014659

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.