Associated Papers
Calcineurin-NFAT-DSCR1.4 signaling as druggable axis in Gαq-R183Q-driven capillary malformations.
Xu T et al.
Angiogenesis, 2026
Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.
Henslee SB et al.
Lymphatic Research and Biology, 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
Decoding Genetic Disease Through the Skin: Lessons From the UDN.
Sivadas A et al.
International Journal of Dermatology, 2026
Vascular malformations: from genetics to therapeutics.
Morin G et al.
Embo Molecular Medicine, 2026
Early genetic evolution of driver mutations in uveal melanoma.
Dollar JJ et al.
Nature Communications, 2025
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
Beyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis.
Cerron-Vela CR et al.
Pediatric Radiology, 2025
Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.
Knöpfel N et al.
The British Journal of Dermatology, 2025
Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.
Kuentz P et al.
The British Journal of Dermatology, 2025
High depth targeted next-generation sequencing in vascular malformations.
Pakhathirathien P et al.
Human Molecular Genetics, 2025
GNAQ p.R183Q Endothelial Cells Fail to Align in Response to Laminar Shear Stress and Exhibit Increased Expression of MAPK, Inflammation, and Cell Adhesion Genes.
Nasim S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Mutated G proteins as drug targets.
Noorman van der Dussen K et al.
Trends in Pharmacological Sciences, 2025
Early Genetic Evolution of Driver Mutations in Uveal Melanoma.
Dollar JJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.
Smits P et al.
Angiogenesis, 2025
Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review.
Skrehot HC et al.
American Journal of Ophthalmology Case Reports, 2025
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 2025
Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.
Terai M et al.
Journal of Clinical Medicine, 2025
MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations.
Nasim S et al.
Biorxiv : the Preprint Server for Biology, 2025
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.
Smits PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Identification of diagnostic and prognostic genetic alterations in uveal melanoma using RNA sequencing.
Nell RJ et al.
Scientific Reports, 2025
The Triad of Blood-Brain Barrier Integrity: Endothelial Cells, Astrocytes, and Pericytes in Perinatal Stroke Pathophysiology.
Garcia-Martínez T et al.
International Journal of Molecular Sciences, 2025
An open-label, phase IB/II study of abemaciclib with paclitaxel for tumors with CDK4/6 pathway genomic alterations.
Kim KH et al.
Esmo Open, 2025
Endothelial GNAQ p.R183Q mutation confers hemoporfin-mediated photodynamic therapy resistance and drives pathological angiogenesis via the angiopoietin-2/TIE2/PI3K/AKT pathway.
Liu L et al.
Frontiers in Cell and Developmental Biology, 2025
Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.
Li Y et al.
Frontiers in Neurology, 2025
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Shum C et al.
Computational and Structural Biotechnology Journal, 2024
Somatic GNAQ, CTNNB1, and CACNA1C Mutations in Cat Aldosterone-Secreting Tumors.
Watson A et al.
Hypertension (dallas, Tex. : 1979), 2024
A Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.
Joslyn KE et al.
Molecules (basel, Switzerland), 2024
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.
Bellucca S et al.
The Journal of Pediatrics, 2024
Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.
Nasim S et al.
Angiogenesis, 2024
GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.
Pilch J et al.
Cancers, 2024
Sporadic hypertrophic and nodular port-wine stain: a study of 27 cases with emphasis on histological features and novel mutation type.
Xue S et al.
Journal of Clinical Pathology, 2024
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 2024
Mosaic GNAQ and GNA11 mutations may cause phacomatosis melanorosea and phacomatosis melanocesioflammea.
Torchia D
Pediatric Investigation, 2024
GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
Ren J et al.
American Journal of Human Genetics, 2024
NRASQ61R mutation drives elevated angiopoietin-2 expression in human endothelial cells and a genetic mouse model.
Pastura P et al.
Pediatric Blood & Cancer, 2024
Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.
Nasim S et al.
Biorxiv : the Preprint Server for Biology, 2024
Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
Langbroek GB et al.
The Journal of Investigative Dermatology, 2024
Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.
Zhang B et al.
Pediatric Investigation, 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