Associated Papers
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
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Carcavilla A et al.
European Journal of Endocrinology, 2025
Genetic variants of accessory proteins and G proteins in human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2025
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).
Vado Y et al.
Genes, 2024
Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation.
Kagami R et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2020
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.
Long XD et al.
Bmc Medical Genetics, 2018
A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.
Wentworth K et al.
Case Reports in Endocrinology, 2016
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
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene.
Turan S et al.
Hormone Research in Paediatrics, 2013
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
Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.
Lania AG et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Mutations in the Gs alpha gene causing hormone resistance.
Mantovani G et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy.
Mantovani G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis L et al.
Pediatric Research, 2003
Genetic basis for resistance to parathyroid hormone.
Levine MA et al.
Hormone Research, 2003
Pseudohypoparathyroidism: a multitude of mutations in the stimulatory G protein alpha subunit (Gsalpha).
Farfel Z
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2002
G protein mutations in endocrine diseases.
Lania A et al.
European Journal of Endocrinology, 2001
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
Weinstein LS et al.
Endocrine Reviews, 2001
Activating and inactivating mutations in the human GNAS1 gene.
Aldred MA et al.
Human Mutation, 2000
Gonadotropin-dependent sexual precocity in a boy affected by pseudohypoparathyroidism.
Rossodivita A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2000
GNAS1 mutational analysis in pseudohypoparathyroidism.
Ahmed SF et al.
Clinical Endocrinology, 1998
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
Warner DR et al.
Molecular Endocrinology (baltimore, Md.), 1997
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene.
Shapira H et al.
Human Genetics, 1996
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996
[Hereditary osteodystrophy of type 2 of Albright (pseudopseudo-hypoparathyroidism) in 2 sisters (genetic study)].
Vignon E et al.
Lyon Medical, 1971