ArticleHereditas2018
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.
Article in Hereditas, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 25 citations in OpenAlex.
- Sex-Based Differences in Cell Types and Gene Expression within the Anterior Cruciate Ligament.The Journal of bone and joint surgery. American volume · 2026Article
- RASA1 expression highlights Z/W dosage dynamics and gonadal development in chickens.BMC genomics · 2025Article
- Pediatric metameric cervical spinal cord arteriovenous malformation managed with staged endovascular and spinal stabilization approach: a case report.Spinal cord series and cases · 2024Article
- Individualized Surgical Management of Refractory Port-Wine Stains in the Scalp and Face: A Single-Center Retrospective Study and a Discussion of Surgical Strategies.Clinical, cosmetic and investigational dermatology · 2022Article
- Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.Frontiers in medicine · 2021Article
- Multiple lentigines inJAAD case reports · 2021Article
- Unilateral and segmental distribution of facial erythema: is it a real port-wine stain?Hereditas · 2020Article
- Neuroimaging of Pediatric Intracerebral Hemorrhage.Journal of clinical medicine · 2020Review
- Cell Populations Expressing Stemness-Associated Markers in Vascular Anomalies.Frontiers in surgery · 2020Review
- Ras Pathways on Prox1 and Lymphangiogenesis: Insights for Therapeutics.Frontiers in cardiovascular medicine · 2020Review
- The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.International journal of molecular sciences · 2019Review
- EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.Trends in molecular medicine · 2019Review
- Vascular Malformations.Indian dermatology online journalReview
- RASopathies: Evolving Concepts in Pathogenetics, Clinical Features, and Management.Indian dermatology online journalReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RASA-1 gene causing loss of function (LOF) of the RasGAP domain. To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia. This report may extend our understanding and support further studies of CM-AVM in East Asia.
Indexed as
Identifiers
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.