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 evaluation and molecular analysis of genetic and epigenetic inactivation defects in GNAS in children: A multicenter experience in China.
Xu X et al.
European Journal of Endocrinology, 2025
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation.
Leclercq V et al.
Clinical Case Reports, 2018
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC et al.
Human Mutation, 2015
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Mitsui T et al.
American Journal of Medical Genetics. Part A, 2014
The G protein α subunit Gαs is a tumor suppressor in Sonic hedgehog-driven medulloblastoma.
He X et al.
Nature Medicine, 2014
Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.
Turcic K et al.
Journal of Molecular Endocrinology, 2014
Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
Freson K et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
Freson K et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
Ahrens W et al.
The Journal of Clinical Endocrinology and Metabolism, 2001