Associated Papers
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
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
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
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify® Mutation Profiler.
Pepe F et al.
Oncology and Therapy, 2025
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
GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
Ren J et al.
American Journal of Human Genetics, 2024
Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
Langbroek GB et al.
The Journal of Investigative Dermatology, 2024
Capillary malformations.
Hammill AM et al.
The Journal of Clinical Investigation, 2024
Clinical and genetic characteristics of BAP1-mutated non-uveal and uveal melanoma.
Matull J et al.
Frontiers in Immunology, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.
Green TE et al.
Genetics in Medicine Open, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
MEK inhibition reduced vascular tumor growth and coagulopathy in a mouse model with hyperactive GNAQ.
Schrenk S et al.
Nature Communications, 2023
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.
Galeffi F et al.
Angiogenesis, 2022
The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.
Butnariu LI et al.
International Journal of Molecular Sciences, 2022
Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.
Serna-Blasco R et al.
Cancers, 2022
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Heterogeneity of GNAQ/11 mutation inversely correlates with the metastatic rate in uveal melanoma.
Liang C et al.
The British Journal of Ophthalmology, 2021
GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma.
Livingstone E et al.
The British Journal of Dermatology, 2020
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.
Paolacci S et al.
Journal of Clinical Medicine, 2020
Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients.
Hou C et al.
Ophthalmic Research, 2020
High frequency of GNA14, GNAQ, and GNA11 mutations in cherry hemangioma: a histopathological and molecular study of 85 cases indicating GNA14 as the most commonly mutated gene in vascular neoplasms.
Liau JY et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma.
Le Guin CHD et al.
Cancers, 2019
The genetic evolution of metastatic uveal melanoma.
Shain AH et al.
Nature Genetics, 2019
GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.
Francis JH et al.
Ophthalmology, 2019
A novel vascular tumour characterized by coexisting HRAS and GNAQ activating mutations.
Castel P et al.
The British Journal of Dermatology, 2019
Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.
Klebanov N et al.
Jama Dermatology, 2019
Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis.
Rose AM et al.
Bmc Cancer, 2018
Detection of BRAF, NRAS, KIT, GNAQ, GNA11 and MAP2K1/2 mutations in Russian melanoma patients using LNA PCR clamp and biochip analysis.
Emelyanova M et al.
Oncotarget, 2017
Melanomas Associated With Blue Nevi or Mimicking Cellular Blue Nevi: Clinical, Pathologic, and Molecular Study of 11 Cases Displaying a High Frequency of GNA11 Mutations, BAP1 Expression Loss, and a Predilection for the Scalp.
Costa S et al.
The American Journal of Surgical Pathology, 2016
ERBB activation modulates sensitivity to MEK1/2 inhibition in a subset of driver-negative melanoma.
Hutchinson KE et al.
Oncotarget, 2015
Detection of GNAQ mutations and reduction of cell viability in uveal melanoma cells with functionalized gold nanoparticles.
Posch C et al.
Biomedical Microdevices, 2015
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.
Ewens KG et al.
Investigative Ophthalmology & Visual Science, 2014
Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.
Koopmans AE et al.
British Journal of Cancer, 2013
The emerging mutational landscape of G proteins and G-protein-coupled receptors in cancer.
O'Hayre M et al.
Nature Reviews. Cancer, 2013
Lack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi.
Hawkes JE et al.
Frontiers in Oncology, 2013
Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.
Lovly CM et al.
Plos One, 2012
Germline mutations in BAP1 predispose to melanocytic tumors.
Wiesner T et al.
Nature Genetics, 2011
Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma.
Bauer J et al.
British Journal of Cancer, 2009
Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature.
Ivars M et al.
Pediatric Dermatology, 0
AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.
Taylor Gonzalez DJ et al.
Ophthalmology Science, 0
The Value of Detecting and Monitoring ctDNA in Uveal Melanoma: Results of a Pilot Study and a Systematic Review.
Azimi F et al.
Case Reports in Ophthalmology, 0