Associated Papers
Chromosome 3p Deletion Leads to Extensive Genomic Alterations in Diverse Cancers and Confers Synthetic Lethality in Uveal Melanoma.
Cutler MC et al.
Cancers, 2026
A Multi-Step Immune-Competent Genetically Engineered Mouse Model Reveals Phenotypic Plasticity in Uveal Melanoma.
Xu X et al.
Cancer Research, 2026
Calcineurin-NFAT-DSCR1.4 signaling as druggable axis in Gαq-R183Q-driven capillary malformations.
Xu T et al.
Angiogenesis, 2026
Diagnostic Utility of Molecular Profiling in a Giant Cellular Blue Nevus.
Li Y et al.
The American Journal of Dermatopathology, 2026
Circulating tumor DNA accelerates diagnosis and treatment guidance for metastatic uveal melanoma with hepatic lesions not amenable to biopsy.
Kissinger CR et al.
Melanoma Research, 2026
Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours.
Dorwal P et al.
Journal of Clinical Laboratory Analysis, 2026
Ferroptosis dysregulation, mitochondrial dysfunction, and iron metabolism alterations are correlated with aggressiveness in uveal melanoma.
Singh L et al.
Apoptosis : an International Journal on Programmed Cell Death, 2026
Vascular malformations: from genetics to therapeutics.
Morin G et al.
Embo Molecular Medicine, 2026
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
High depth targeted next-generation sequencing in vascular malformations.
Pakhathirathien P et al.
Human Molecular Genetics, 2025
GNAQ-/GNA14-mutated hepatic vascular malformation with capillary proliferation in adults and children.
Fischer AK et al.
Human Pathology, 2025
GNAQ mutation in primary spinal melanoma: illustrative case.
Hayes Meizoso C et al.
Journal of Neurosurgery. Case Lessons, 2025
Mitfa-Independent Melanocyte Progenitors are Highly Susceptible to GNAQ-induced Uveal Melanoma in Adult Zebrafish.
Yevdash JI et al.
Biorxiv : the Preprint Server for Biology, 2025
Discovery and Validation of an Ancillary Genomic Test of Malignancy for Primary Melanocytic Tumors.
Vergara IA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.
Xiong D et al.
Nature Biotechnology, 2025
Mutated G proteins as drug targets.
Noorman van der Dussen K et al.
Trends in Pharmacological Sciences, 2025
Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations.
Del Carpio LP et al.
European Journal of Cancer (oxford, England : 1990), 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.
Smits P et al.
Angiogenesis, 2025
A multi-step immune-competent genetic mouse model reveals phenotypic plasticity in uveal melanoma.
Xu X et al.
Biorxiv : the Preprint Server for Biology, 2025
The Natural History of Congenital Hepatic Hemangiomas.
Ostertag-Hill CA et al.
The Journal of Pediatrics, 2025
A model workflow for microfluidic enrichment and genetic analysis of circulating melanoma cells.
Poggiana C et al.
Scientific Reports, 2025
Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.
Lozano LP et al.
Progress in Retinal and Eye Research, 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
Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.
Longakit AN et al.
Cancer Research Communications, 2025
Co-isolation of human donor eye cells and development of oncogene-mutated melanocytes to study uveal melanoma.
Chen Y et al.
Bmc Biology, 2025
Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.
Toumi E et al.
Cancers, 2024
Clinical benefit with tebentafusp in a patient with GNAQ mutant metastatic blue nevus-associated melanoma.
Kudelka MR et al.
Journal for Immunotherapy of Cancer, 2024
PRKC Fusion Melanocytic Tumors, a Subgroup of Melanocytic Tumors More Closely Aligned to Blue Nevi Than to PRKAR1A-inactivated Pigmented Epithelioid Melanocytomas.
Patel P et al.
The American Journal of Surgical Pathology, 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
The roles of genetic mutation and cytokines/chemokines in immune response and their association with uveal melanoma patient outcome.
Yong Liu et al.
Heliyon, 2024
Systems modeling of oncogenic G-protein and GPCR signaling reveals unexpected differences in downstream pathway activation.
Trogdon M et al.
Npj Systems Biology and Applications, 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
Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
Langbroek GB et al.
The Journal of Investigative Dermatology, 2024
Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice.
Mengoni M et al.
Cancer Gene Therapy, 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
Capillary malformations.
Hammill AM et al.
The Journal of Clinical Investigation, 2024
The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group.
van Poppelen NM et al.
Investigative Ophthalmology & Visual Science, 2024
Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature.
Kapoor R et al.
Diagnostic Pathology, 2024
INPP5A phosphatase is a synthetic lethal target in GNAQ and GNA11-mutant melanomas.
Elbatsh AMO et al.
Nature Cancer, 2024
Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.
de Bruyn DP et al.
Investigative Ophthalmology & Visual Science, 2024