Associated Papers
A de novo pathogenic variant in TSHR expanding the phenotype of persistent sporadic congenital non-autoimmune hyperthyroidism: a case report and literature review.
Xu W et al.
Translational Pediatrics, 2025
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C et al.
Clinical Endocrinology, 2025
Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.
Dighe R et al.
Cureus, 2025
ThyroSeq overview on indeterminate thyroid nodules: An institutional experience.
Sirotnikov S et al.
Diagnostic Cytopathology, 2024
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Makkonen K et al.
Jci Insight, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Molecular testing raises thyroid nodule fine needle aspiration diagnostic value.
Han D et al.
Endocrine Connections, 2023
Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
Andrianus S et al.
Diagnostic Cytopathology, 2023
Update on Molecular Diagnostics in Thyroid Pathology: A Review.
Alzumaili B et al.
Genes, 2023
Five-Year Assessment of Multiple Gene Variants Associated with Bone Marrow Hypocellularity, Reduced Bone Density, and Ovarian Insufficiency in Adolescence.
Sills ES et al.
Journal of Bone Metabolism, 2022
Diagnostic performance of next-generation sequencing and genetic profiling in thyroid nodules from a single center in China.
Ren M et al.
European Thyroid Journal, 2022
Fusion Oncogenes Are Associated With Increased Metastatic Capacity and Persistent Disease in Pediatric Thyroid Cancers.
Franco AT et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2022
Locally invasive classical papillary thyroid carcinoma with TSH receptor I568T mutation: case report.
Nguyen J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Indeterminate Thyroid Fine-Needle Aspirations in Pediatrics: Exploring Clinicopathologic Features and Utility of Molecular Profiling.
Baran JA et al.
Hormone Research in Paediatrics, 2022
Risk of malignancy in cytologically indeterminate thyroid nodules harboring thyroid stimulating hormone receptor mutations.
Whitmer D et al.
Frontiers in Endocrinology, 2022
Molecular Signature Expands the Landscape of Driver Negative Thyroid Cancers.
Bim LV et al.
Cancers, 2021
Functional differences between TSHR alleles associate with variation in spawning season in Atlantic herring.
Chen J et al.
Communications Biology, 2021
Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology.
Chong AS et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene.
Malej A et al.
Balkan Journal of Medical Genetics : Bjmg, 2020
Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Role of thyroid hormones in craniofacial development.
Leitch VD et al.
Nature Reviews. Endocrinology, 2020
Molecular Variants and Their Risks for Malignancy in Cytologically Indeterminate Thyroid Nodules.
Goldner WS et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Outcome and molecular characteristics of non-invasive encapsulated follicular variant of papillary thyroid carcinoma with oncocytic features.
Xu B et al.
Endocrine, 2019
Analytical and Clinical Validation of Expressed Variants and Fusions From the Whole Transcriptome of Thyroid FNA Samples.
Angell TE et al.
Frontiers in Endocrinology, 2019
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
Cho WK et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Hyperthyroidism and Papillary Thyroid Carcinoma in Thyrotropin Receptor D633H Mutant Mice.
Jaeschke H et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
False-positive TSH receptor antibody results in an infant with activating TSHR mutation.
Wong FC et al.
Endocrine Journal, 2018
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Clinical Significance of Thyroid-Stimulating Hormone Receptor Gene Mutations and/or Sodium-Iodine Symporter Gene Overexpression in Indeterminate Thyroid Fine Needle Biopsies.
Guan H et al.
Frontiers in Endocrinology, 2018
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma.
Blackburn J et al.
Case Reports in Genetics, 2018
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.
Pagan M et al.
Bmc Bioinformatics, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.
Eszlinger M et al.
Molecular and Cellular Endocrinology, 2014
A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation.
Nakamura A et al.
Pediatric Research, 2014
Autonomous adenomas caused by somatic mutations of the thyroid-stimulating hormone receptor in children.
Grob F et al.
Hormone Research in Paediatrics, 2014
A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
Larsen CC et al.
International Journal of Pediatric Endocrinology, 2014
Prevalence of activating thyrotropin receptor and Gsα gene mutations in paediatric thyroid toxic adenomas: a multicentric Italian study.
Agretti P et al.
Clinical Endocrinology, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
A somatic TSHR mutation in a patient with lung adenocarcinoma with bronchioloalveolar carcinoma, coronary artery disease and severe chronic obstructive pulmonary disease.
Kim JW et al.
Oncology Reports, 2012
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
Biebermann H et al.
Thyroid Research, 2011