Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

Jasmine Parma, Laurence Duprez, Jacqueline Van Sande, +5

Nature

Somatic VariantSomatic MutationsGeneticsThyroid DiseaseMolecular Biology +4

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

Laurence Duprez, Jasmine Parma, Jacqueline Van Sande, +8

Nature Genetics

Autoimmune DiseaseGeneticsThyroid DiseasePathologyThyroid Disorders +6

Familial Gestational Hyperthyroidism Caused by a Mutant Thyrotropin Receptor Hypersensitive to Human Chorionic Gonadotropin

Patrice Rodien, C Brémont, Marie-Laure Raffin Sanson, +6

New England Journal of Medicine

Congenital Hyperthyroidism Caused by a Mutation in the Thyrotropin-Receptor Gene

Peter Kopp, Jacqueline Van Sande, Jasmine Parma, +6

New England Journal of Medicine

Diversity and Prevalence of Somatic Mutations in the Thyrotropin Receptor and G_sα Genes as a Cause of Toxic Thyroid Adenomas¹

Jasmine Parma, Laurence Duprez, Jacqueline Van Sande, +7

The Journal of Clinical Endocrinology & Metabolism

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

Jessica C. de Greef, Jun Wang, Judit Balog, +22

The American Journal of Human Genetics

Developmental AnomalyGenetic DisorderGeneticsPathogenesisImmunology +6

Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8¹

Catheline Vilain, Catherine Rydlewski, Laurence Duprez, +7

The Journal of Clinical Endocrinology & Metabolism

Thyroid Hormone SynthesisGeneticsMolecular GeneticsParathyroid GlandEpigenetics +14

Constitutive activation of the TSH receptor by spontaneous mutations affecting the N‐terminal extracellular domain

Laurence Duprez, Jasmine Parma, Sabine Costagliola, +4

FEBS Letters

Human Thyroid Tumor Cell Lines Derived from Different Tumor Types Present a Common Dedifferentiated Phenotype

Wilma C.G. van Staveren, David Weiss Solís, Laurent Delys, +8

Cancer Research

PathologyCell SpecializationCancer BiologyTumor BiologyTumor Heterogeneity +14

Senescence-Associated Oxidative DNA Damage Promotes the Generation of Neoplastic Cells

Karo Gosselin, Sébastien Martien, Albin Pourtier, +16

Cancer Research