ArticleDisease models & mechanisms2021
The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression.
Article in Disease models & mechanisms, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.Human genetics · 2026Article
- Novel NOTCH3 alteration expanding the molecular spectrum of pericytic tumours: report of two cases.Histopathology · 2026Article
- A NovelMolecular syndromology · 2025Article
- Targeting Notch signaling pathways with natural bioactive compounds: a promising approach against cancer.Frontiers in pharmacology · 2024Review
- Left ventricular hypertrophy and metabolic resetting in the Notch3-deficient adult mouse heart.Scientific reports · 2023Article
- Notch signaling, hypoxia, and cancer.Frontiers in oncology · 2023Review
- Multicentric infantile myofibromatosis with extensive involvement limited to bone.Skeletal radiology · 2022Article
- Roles of Notch Signaling in the Tumor Microenvironment.International journal of molecular sciences · 2022Review
- Notch Signaling in Vascular Endothelial and Mural Cell Communications.Cold Spring Harbor perspectives in medicine · 2022Article
- Notch signalling in healthy and diseased vasculature.Open biology · 2022Review
- Novel Cysteine-Sparing HypomorphicNeurology. Genetics · 2021Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile myofibromatosis (IMF) is a benign tumor form characterized by the development of nonmetastatic tumors in skin, bone, muscle and sometimes viscera. Autosomal dominant forms of IMF are caused by mutations in the
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Registered trials
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.