ReviewThe Journal of clinical investigation2014
Genetics of lymphatic anomalies.
Review in The Journal of clinical investigation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers, 1 of them a synthesis that pooled 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.
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
144 citing papers in PubMed, 1 synthesis or guideline pooled it, 361 citations in OpenAlex.
- Biomaterials in the clinical treatment of lymphedema-a systematic review.Journal of vascular surgery. Venous and lymphatic disorders · 2024Pooled it
- Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease.Pediatric blood & cancer · 2019Trial
- Lymphatic Malformations With Activating KRAS Mutations Impair Lymphatic Valve Development Through Matrix Metalloproteinases.Arteriosclerosis, thrombosis, and vascular biology · 2026Article
- Multidimensional single-cell analysis reveals immune dysfunction and inflammatory response in lymphatic malformations.Protein & cell · 2026Article
- Lysophosphatidic acid-mediated NF-κB activation promotes FOXC2 expression essential for lymphatic valve development.The Journal of clinical investigation · 2026Article
- Decreased Kinase Activity of the VEGFR3 Variant c.3175G>C Associated with Primary Lymphedema.Current issues in molecular biology · 2026Article
- Lymphedema in patients with X-linked severe combined immunodeficiency.The journal of allergy and clinical immunology. Global · 2026Article
- Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.Prenatal diagnosis · 2026Article
- Laparoscopic intracavitary catheterization combined with bleomycin quadruple sclerotherapy for retroperitoneal lymphatic malformations: a single-center case series.Frontiers in surgery · 2026Article
- PI3K/AKT/mTOR axis in vascular malformations: from molecular insights to targeted clinical trials.Orphanet journal of rare diseases · 2025Review
- Article
- ADAMTS2: More than a procollagen N-proteinase.Genes & diseases · 2025Review
- Analysis of the Occurrence ofChildren (Basel, Switzerland) · 2025Article
- A pluripotent stem cell model of Emberger syndrome reveals reduced lymphatic endothelial differentiation.International journal of hematology · 2025Article
- Multimodal treatment strategies in generalized lymphatic anomaly with pleural effusion: a case study and literature review.Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgery · 2025Article
- MR Lymphangiography in Pediatrics: Indications, Technique, Findings, and Management.Seminars in interventional radiology · 2025Review
- The role of VEGF in vascular dementia: impact of aging and cellular senescence.Biogerontology · 2025Review
- Cross-talk between cardiac lymphatics and immune cells regulates inflammatory response and cardiac recovery after myocardial infarction.Frontiers in immunology · 2025Review
- Characteristics and advances in signaling pathways, cellular communication, cell junctions, and oxidative stress in lymphedema.Frontiers in cell and developmental biology · 2025Review
- Primary Lymphedema: Anatomically Isolated or a Pervasive Systemic Disorder?Plastic and reconstructive surgery. Global open · 2024Article
84 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
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lymphatic anomalies include a variety of developmental and/or functional defects affecting the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary lymphedema, chylothorax and chylous ascites, lymphatic malformations, and overgrowth syndromes with a lymphatic component. Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors. These mutations exert their effects via the RAS/MAPK and the PI3K/AKT pathways and explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms. More common forms may also result from multigenic effects or post-zygotic mutations. Most of the corresponding murine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in human and murine physiology and the influence of other factors.
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What OpenQuestion 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 OpenQuestion graph.