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
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
Ikeda M et al.
Journal of Human Genetics, 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
Gαs variant detection discerns skeletal cell types involved in fibrous dysplasia pathogenesis.
Michel Z et al.
Bone, 2026
Six-Color Multiplex Digital PCR Assays for Comprehensive Screening and Identification of Multiple Driver Mutations Associated with Pancreatic Carcinogenesis.
Maeda C et al.
Clinical Chemistry, 2026
McCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review.
Qian Le Boh GV et al.
Kidney Medicine, 2026
Clinical characteristics associated with somatic GNAS mutations in acromegaly: a systematic review and institutional experience.
Dillon BR et al.
Frontiers in Endocrinology, 2026
Mutant GNAS drives a pyloric metaplasia with tumor suppressive glycans in intraductal papillary mucinous neoplasia.
Quoc-Huy Trinh V et al.
Cell Reports, 2025
Age-Related Multigene Analysis of Colorectal Cancer Using Next-Generation Sequencing.
Kozlowska-Geller M et al.
Cancers, 2025
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
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Molecular pathology of intraductal papillary mucinous neoplasms of the pancreas: current understanding and perspectives on malignant progression.
Makino Y et al.
Journal of Gastroenterology, 2025
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 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
Integrative analysis of genomic and transcriptomic data informs precancer progression in the pancreas.
Noller K et al.
Biorxiv : the Preprint Server for Biology, 2025
Effects of Krüppel-like factor 4 mutation on the clinicopathological characteristics and its related protein expressions in intraductal papillary mucinous neoplasm of the pancreas.
Nagamine Y et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.
Iwasaki Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.
Yang B et al.
World Journal of Surgical Oncology, 2025
Segmental macular hyperpigmentation: new genes, new clinical implications.
Kinsler VA et al.
The British Journal of Dermatology, 2025
Genomic alterations in pancreatic cystic neoplasms: from molecular characterization to precision clinical management.
Yang S et al.
International Journal of Surgery (london, England), 2025
ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.
Kelly CM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors.
Tanaka J et al.
Molecular Oncology, 2025
Neutralization of Receptor activator of nuclear factor-κB ligand reduces fibrosis and promotes osteoblast differentiation in a mouse model of fibrous dysplasia driven by somatic expression of GnasR201H.
Ormsby RT et al.
Jbmr Plus, 2025
Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.
Wentworth KL et al.
American Journal of Human Genetics, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Dietary and Circulating Vitamins, Polymorphisms of Vitamin Metabolism Genes, and the Risk of Gastrointestinal Cancers: A Systematic Review and Meta-Analysis.
Wang XL et al.
Clinical and Translational Gastroenterology, 2025
Molecular Landscape, Genomic Shift, and Prediction in the Neoadjuvant Setting of Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.
Pons L et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Lazertinib for Patients with NSCLC Harboring Uncommon EGFR Mutations: A Phase II Multicenter Trial.
Park S et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025
Mutated G proteins as drug targets.
Noorman van der Dussen K et al.
Trends in Pharmacological Sciences, 2025
Burosumab treatment for fibroblast growth factor-23-associated hypophosphatemia in an adult patient with severe fibrous dysplasia in McCune-Albright syndrome: case report and review of the literature.
Stelmachowska-Banaś M et al.
Jbmr Plus, 2025
Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome Patients With Craniofacial Lesions.
Xue J et al.
Oral Diseases, 2025
Unraveling the link between GNAS R201 mutation and colorectal cancer.
Behmanesh MA et al.
Scientific Reports, 2025
Precision oncology for advanced-stage adenocarcinoma of the appendix: comprehensive molecular characterisation identifies actionable lesions and potential predictive biomarkers.
Lange S et al.
Bmj Open Gastroenterology, 2025
Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.
Zainab R et al.
Pituitary, 2025
MutationAssessor in cBioPortal.
Su Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research.
Palmisano B et al.
Orphanet Journal of Rare Diseases, 2025
Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma.
Fang X et al.
Clinical Endocrinology, 2025
Predictors of patients with advanced pancreatic cancer undergoing conversion surgery via chemoimmunotherapy with a multifunctional Wilms' tumor 1 (WT1) peptide cocktail-pulsed dendritic cell vaccine.
Koido S et al.
Journal for Immunotherapy of Cancer, 2025
A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.
Das K et al.
Scientific Reports, 2025
KRAS and GNAS mutations in cell-free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms-an observational pilot study.
Nitschke C et al.
Molecular Oncology, 2025
Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.
Toriyama K et al.
The Journal of Pathology, 2025
Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.
Kato T et al.
British Journal of Cancer, 2025