Associated Papers
Inactivating GNAS complex locus variants impair G protein-coupled receptor signaling and cause multiple suture craniosynostosis in humans and zebrafish.
Yan Q et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2026
Clinical characteristics associated with somatic GNAS mutations in acromegaly: a systematic review and institutional experience.
Dillon BR et al.
Frontiers in Endocrinology, 2026
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.
Lv C et al.
Nature Aging, 2025
Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.
Pandiar D et al.
Journal of Bone and Mineral Metabolism, 2025
Potentiation of mitochondrial function by mitoDREADD-Gs reverses pharmacological and neurodegenerative cognitive impairment in mice.
Pagano Zottola AC et al.
Nature Neuroscience, 2025
Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.
de Bitter TJJ et al.
Scientific Reports, 2025
Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.
Zainab R et al.
Pituitary, 2025
Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.
Tan Y et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.
Xue J et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025
Somatic GNAS mutations in acromegaly: prevalence, clinical features and gender differences.
Yang Y et al.
Endocrine Connections, 2025
Characterisation of a GNAS variant linked to cortisol-producing adrenocortical adenoma.
Jamaluddin A et al.
Endocrine Oncology (bristol, England), 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Exploring mutations: GNAS and CDC73 in jaw fibroosseous lesions.
Jot K et al.
Pathology, Research and Practice, 2024
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 2024
Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.
Demajo S et al.
Cancer Discovery, 2024
KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas.
Chasseloup F et al.
European Journal of Endocrinology, 2024
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).
Vado Y et al.
Genes, 2024
GNAS mutations suppress cell invasion by activating MEG3 in growth hormone-secreting pituitary adenoma.
Tang C et al.
Oncology Research, 2024
The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutations in fibrous dysplasia: a meta-analysis.
Zhang AB et al.
Frontiers in Genetics, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.
Kim HY et al.
International Journal of Molecular Sciences, 2023
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS et al.
Nature, 2023
Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas.
Liu G et al.
Iscience, 2023
Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.
Balinisteanu I et al.
Biomedicines, 2023
Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.
Nguyen Hoang VA et al.
Molecular Oncology, 2023
Identification of GNAS Variants in Circulating Cell-Free DNA from Patients with Fibrous Dysplasia/McCune Albright Syndrome.
Roszko KL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions.
Rift CV et al.
Gastrointestinal Endoscopy, 2023
Major Genetic Motifs in Pituitary Adenomas: A Practical Literature Update.
Agrawal N et al.
World Neurosurgery, 2023
Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.
Mascioli I et al.
Frontiers in Endocrinology, 2023
Proteogenomic landscape and clinical characterization of GH-producing pituitary adenomas/somatotroph pituitary neuroendocrine tumors.
Yamato A et al.
Communications Biology, 2022
CC Genotype of GNAS c.393C>T (rs7121) Polymorphism Has a Protective Effect against Development of BK Viremia and BKV-Associated Nephropathy after Renal Transplant
Peitz T et al.
Pathogens (basel, Switzerland), 2022
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Vitsios D et al.
Science Advances, 2022
Molecular heterogeneity of pancreatic intraductal papillary mucinous neoplasms and implications for novel endoscopic tissue sampling strategies.
Rift CV et al.
Journal of Clinical Pathology, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Large Scale Molecular Studies of Pituitary Neuroendocrine Tumors: Novel Markers, Mechanisms and Translational Perspectives.
Peculis R et al.
Cancers, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Implementation of a molecular tumour board in LATAM: the impact on treatment decisions for patients evaluated at Instituto Alexander Fleming, Argentina.
Angel MO et al.
Ecancermedicalscience, 2021
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review.
Watanabe D et al.
Endocrine Journal, 2019
Hypermethylator Phenotype and Ectopic GIP Receptor in GNAS Mutation-Negative Somatotropinomas.
Hage M et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma.
Megnis K et al.
Frontiers in Endocrinology, 2019