ArticleThe Journal of experimental medicine2019
Somatic activating mutations in
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Article in The Journal of experimental medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed
10.7field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
70 citing papers in PubMed, 142 citations in OpenAlex.
- Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.Angiogenesis · 2020Trial
- [Cystic lymphangioma of the penis in an adult: A case report].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2026Article
- RAS-PI3Kα signaling regulates KrasG12D-induced lymphangiogenesis in complex lymphatic anomalies.Disease models & mechanisms · 2026Article
- Therapeutic Efficacy of Sirolimus in Skeletal Manifestations of Gorham-Stout Disease in Adults: A Systematic Review.Cureus · 2026Review
- VEGF-D-induced intraosseous lymphangiogenesis drives site-specific heterotopic bone resorption.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Multidimensional single-cell analysis reveals immune dysfunction and inflammatory response in lymphatic malformations.Protein & cell · 2026Article
- Targeting lymphatic vessels enhances bone regeneration by augmenting osteoclast activity in mouse models of amputation.The Journal of clinical investigation · 2026Article
- The role of the lymphatic system in musculoskeletal system health and disease: research progress and future directions.Bone research · 2026Review
- Vascular malformations: from genetics to therapeutics.EMBO molecular medicine · 2026Review
- Case report: Long-term local control of recurrent lymphatic malformations using minocycline sclerotherapy following surgical resection in a dog.Frontiers in veterinary science · 2026Article
- Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant.Pediatric blood & cancer · 2025Article
- Zebrafish Models of Induced Lymphangiogenesis: Current Advancements and Therapeutic Discovery.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Lymphangiomatosis with pulmonary, mediastinal, and spinal involvement in a pediatric patient: a case report.BMC pediatrics · 2025Article
- Dysfunctional mechanotransduction regulates the progression of PIK3CA-driven vascular malformations.APL bioengineering · 2025Article
- Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations.Acta neuropathologica communications · 2025Article
- A single-cell atlas of normal and KRASG12D-malformed lymphatic vessels.JCI insight · 2025Article
- Exploring the genetic alterations of Gorham-Stout disease.Frontiers in endocrinology · 2025Review
- Lymphatic-immune interactions in the musculoskeletal system.Frontiers in immunology · 2025Review
- Dysfunctional mechanotransduction regulates the progression of PIK3CA-driven vascular malformations.bioRxiv : the preprint server for biology · 2024Article
- Molecular landscape and classification of vascular anomalies.Hematology. American Society of Hematology. Education Program · 2024Review
10 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
22 authors at 4 institutions in 2 countries.
Lara Rodriguez-LagunaVascular Malformations Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0003-2863-3400
Noelia AgraVascular Malformations Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.
Kristina IbañezBioinformatics Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0003-0307-0840
Gloria Oliva-MolinaVascular Malformations Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.
Gema GordoVascular Malformations Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0002-7840-3403
Noor KhuranaHamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX.
Devon HominickHamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX.
María BeatoDepartment of Pathology, Hospital Universitario La Paz, Madrid, Spain.
Isabel ColmeneroDepartment of Pathology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.ORCID 0000-0001-6859-187X
Gonzalo HerranzVascular Malformations Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.
Juan M Torres CanizalezUnit of Immunology, Hospital Universitario La Paz, Madrid, Spain.
Rebeca Rodríguez PenaUnit of Immunology, Hospital Universitario La Paz, Madrid, Spain.
Elena VallespínStructural and Functional Genomics Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0002-8080-8629
Rubén Martín-ArenasStructural and Functional Genomics Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.
Ángela Del PozoBioinformatics Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0001-6690-1619
Cristina VillaverdeCentro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Ana BustamanteCentro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Carmen AyusoCentro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Pablo LapunzinaCentro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Juan C Lopez-GutierrezVascular Anomalies Center, Plastic Surgery, Hospital Universitario La Paz, Madrid, Spain.
Michael T DellingerHamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX michael.dellinger@utsouthwestern.edu.ORCID 0000-0002-3315-4239
Victor Martinez-GlezVascular Malformations Section, Institute of Medical and Molecular Genetics, Institute of Medical and Molecular Genetics-Instituto de Investigación PAZ, Hospital Universitario La Paz, Madrid, Spain vmartinezglez@salud.madrid.org.ORCID 0000-0002-4680-881X
Hospital Universitario La Paz · ESInstituto de Salud Carlos III · ESSouthwestern Medical Center · USHospital Infantil Universitario Niño Jesús · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We identified four distinct somatic
Indexed as
Class I Phosphatidylinositol 3-KinasesLymphangioleiomyomatosisLymphatic SystemMutation, MissenseAdolescentAdultAmino Acid SubstitutionChildChild, PreschoolFemaleHumansMaleProto-Oncogene Proteins c-aktSignal TransductionSirolimusTOR Serine-Threonine KinasesClass I Phosphatidylinositol 3-KinasesMTOR protein, humanPIK3CA protein, humanProto-Oncogene Proteins c-aktSirolimusTOR Serine-Threonine Kinases
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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.