Associated Papers
Angiogenic switching in cerebral cavernous malformations driven by MAP3K3-PIK3CA synergy.
Ren J et al.
Brain : a Journal of Neurology, 2026
Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Non-Malignant Lesions.
Nguyen B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026
Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.
Fontes-Dantas FL et al.
Journal of Neurochemistry, 2026
Verrucous venous malformation - subcutaneous variant mimicking other benign soft tissue tumors: a pediatric case series.
Alarcón-Pérez CE et al.
Clinical and Experimental Dermatology, 2025
Recurrent somatic copy number alterations in resected cerebral cavernous malformations.
Ressler AK et al.
Human Genomics, 2025
Clinical Significance of Somatic PIK3CA and MAP3K3 Mutations in Cerebral and Spinal Cavernous Malformations.
Hongo H et al.
Translational Stroke Research, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant.
Diociaiuti A et al.
Acta Dermato-venereologica, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
Sikta N et al.
Human Molecular Genetics, 2025
Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
O'Sullivan S et al.
American Journal of Medical Genetics. Part A, 2025
Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.
Blatt J et al.
Pediatric Blood & Cancer, 2025
Map3k3 I441M Knock-In Mouse Model of Cerebral Cavernous Malformations.
Xu H et al.
Stroke, 2025
Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations.
Ren J et al.
Acta Neuropathologica Communications, 2025
Loss-of-Function Variant in PPP1R12A -Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.
Contreras-Capetillo SN et al.
American Journal of Medical Genetics. Part A, 2025
Case Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.
Chikhaoui A et al.
Frontiers in Genetics, 2025
Cerebral vascular malformations: pathogenesis and therapy.
He Q et al.
Medcomm, 2024
Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review.
Stor MLE et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Revencu N et al.
Orphanet Journal of Rare Diseases, 2024
Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.
Huo R et al.
Stroke and Vascular Neurology, 2023
Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology.
Sesen J et al.
Cellular and Molecular Neurobiology, 2023
Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations.
Ressler AK et al.
Nature Communications, 2023
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations.
Ren J et al.
Brain : a Journal of Neurology, 2023
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Zhang B et al.
Orphanet Journal of Rare Diseases, 2023
Angioarchitecture and genetic variants of spinal cord cavernous malformations and associated developmental venous anomalies: a case report.
Ren J et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023
Endothelial hyperactivation of mutant MAP3K3 induces cerebral cavernous malformation enhanced by PIK3CA GOF mutation.
Huo R et al.
Angiogenesis, 2023
Genetics of brain arteriovenous malformations and cerebral cavernous malformations.
Hongo H et al.
Journal of Human Genetics, 2023
Single-cell sequencing reveals that endothelial cells, EndMT cells and mural cells contribute to the pathogenesis of cavernous malformations.
Ren J et al.
Experimental & Molecular Medicine, 2023
Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth.
Zhang J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Simplex cerebral cavernous malformations with MAP3K3 mutation have distinct clinical characteristics.
Huo R et al.
Frontiers in Neurology, 2022
Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations.
Hong T et al.
Brain : a Journal of Neurology, 2021
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation.
Weng J et al.
American Journal of Human Genetics, 2021
Late-onset multiple venous malformations confined to the upper limb: link to somatic MAP3K3 mutations.
Al-Qattan MM et al.
The Journal of Hand Surgery, European Volume, 2020
Genetics of vascular anomalies.
Nguyen HL et al.
Seminars in Pediatric Surgery, 2020
The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.
Nguyen V et al.
International Journal of Molecular Sciences, 2019
Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.
Butchbach ME
Biomolecular Detection and Quantification, 2016
A somatic MAP3K3 mutation is associated with verrucous venous malformation.
Couto JA et al.
American Journal of Human Genetics, 2015