ReviewCellular and molecular life sciences : CMLS2021
PDGF receptor mutations in human diseases.
Review in Cellular and molecular life sciences : CMLS, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers.
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.
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.
Who cites it
85 citing papers in PubMed, 136 citations in OpenAlex.
- Hemilateral adipose and muscular atrophy associated with a somatic PDGFRB p.N666K variant.Genes & diseases · 2026Article
- Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.European journal of human genetics : EJHG · 2026Review
- PubMind: literature-based genetic variant extraction and functional annotation using large language models.Nature communications · 2026Article
- PDGF-Stimulated Corneal Keratocyte Motility and Migration Patterns on Aligned Collagen Fibrils Are Inhibited by Decorin.International journal of molecular sciences · 2026Article
- Blue Rubber Bleb Nevus Syndrome with a Novel PDGFRA Variant and Comorbid Autism Spectrum Disorder: A Case Report.Children (Basel, Switzerland) · 2026Article
- Rare child primary intracranial sarcoma associated with DICER1 mutation: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- Tumor Anti-Angiogenesis Therapy and Its Influence on Immune Cell Function in the Tumor Microenvironment.Cancer medicine · 2026Review
- Integrated multi-omics analysis of neutrophil extracellular trap-related genes in renal cell carcinoma using bioinformatics and machine learning.Discover oncology · 2026Article
- VAP1 promotes cardiac fibrosis by enabling PDGFR signaling in myofibroblasts.Experimental & molecular medicine · 2026Article
- Recent Advances in Aptamer-Based Applications in Cardiology.International journal of molecular sciences · 2026Review
- Disrupting PDGFRA-driven immune evasion in glioma: vaccine-based strategies on the horizon.Frontiers in oncology · 2026Review
- Polymeric Nanomedicines for siRNA Delivery in Hepatocellular Carcinoma: Emerging Therapeutic Strategies, Combination Approaches, and Translational Perspectives.International journal of nanomedicine · 2026Review
- Molecular Characterization of a ComplexJCO precision oncology · 2026Article
- Platelet-derived growth factor-BB (PDGF-BB): pathophysiological roles and therapeutic implications in aging-related diseases.Frontiers in cell and developmental biology · 2026Review
- Gene Mutations and Related Molecular Events in Distant Metastasis of Cervical Cancer: A Review.International journal of medical sciences · 2026Review
- Review
- Dermatomyofibromas harbor PDGFRB mutations - another tyrosine kinase-driven neoplasm.Virchows Archiv : an international journal of pathology · 2025Article
- Unveiling the impact of adherence: imatinib plasma levels and survival in postoperative gastrointestinal stromal tumor (GIST) patients.British journal of cancer · 2025Article
- Identification of PDGFRB as a prognostic immune-related biomarker in gastric cancer through bioinformatics and clinical analysis.Translational cancer research · 2025Article
- The role of NK cells in regulating tumorimmunity: current state, challenges and future strategies.Cancer cell international · 2025Review
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in gastrointestinal stromal tumors (GISTs), inflammatory fibroid polyps and gliomas, and PDGFRB mutations drive myofibroma development. In addition, chromosomal rearrangement of either gene causes myeloid neoplasms associated with hypereosinophilia. Recently, mutations in PDGFRB were linked to several noncancerous diseases. Germline heterozygous variants that reduce receptor activity have been identified in primary familial brain calcification, whereas gain-of-function mutants are present in patients with fusiform aneurysms, Kosaki overgrowth syndrome or Penttinen premature aging syndrome. Functional analysis of these variants has led to the preclinical validation of tyrosine kinase inhibitors targeting PDGF receptors, such as imatinib, as a treatment for some of these conditions. This review summarizes the rapidly expanding knowledge in this field.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.