Associated Papers
Mutated G proteins as drug targets.
Noorman van der Dussen K et al.
Trends in Pharmacological Sciences, 2025
ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors.
Zhang KY et al.
Acta Neuropathologica, 2024
A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases.
Ramakrishnan A et al.
Jcem Case Reports, 2024
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira E et al.
The New England Journal of Medicine, 2021
A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.
Wang Q et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation.
Leclercq V et al.
Clinical Case Reports, 2018
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G et al.
Nature Reviews. Endocrinology, 2018
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.
Long XD et al.
Bmc Medical Genetics, 2018
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC et al.
Human Mutation, 2015
Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.
Turcic K et al.
Journal of Molecular Endocrinology, 2014
Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.
Alakus H et al.
Genome Medicine, 2014
Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.
Ngai YF et al.
American Journal of Medical Genetics. Part A, 2010
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
Klagge A et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2010
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
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.
Mouallem M et al.
Clinical Endocrinology, 2008
Pseudohypoparathyroidism: a multitude of mutations in the stimulatory G protein alpha subunit (Gsalpha).
Farfel Z
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2002
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
Ishikawa Y et al.
Journal of Human Genetics, 2001
Activating and inactivating mutations in the human GNAS1 gene.
Aldred MA et al.
Human Mutation, 2000
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
Warner DR et al.
The Journal of Biological Chemistry, 1998