×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GermlineCausalMutation
ORPHANET
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
8388883
1993
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
7523385
1994
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
8702665
1996
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Conditional activation defect of a human Gsalpha mutant.
9159128
1997
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
GENOMICS_ENGLAND
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
9328353
1997
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
9328353
1997
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
9727013
1998
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
CTD_human
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.
9506752
1998
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
11450852
2001
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
We conclude that biochemical and molecular analysis of Gsalpha and its gene GNAS1 can be valuable tools to confirm the diagnosis of AHO .
11600516
2001
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
We set out to identify the parental origin of GNAS1 mutations in patients with AHO by searching for their mutation in the overlapping transcripts.
12624854
2003
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
15817905
2005
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
CTD_human
Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia .
17299070
2007
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Pseudohypoparathyroidism type Ia (PHPIa ) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP.
21488135
2011
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
CTD_human
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.
21823526
2011
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
GENOMICS_ENGLAND
Pediatric Cranial Vault Fractures: Analysis of Demographics, Injury Patterns, and Factors Predictive of Mortality.
26267576
2015
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
GENOMICS_ENGLAND
A novel mutation in a case of pseudohypoparathyroidism type Ia.
27922245
2016
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
GENOMICS_ENGLAND
Similarly, impressive early weight gains were noted in five patients, who initially lacked additional Albright hereditary osteodystrophy features but in whom PHP1A due to GNAS mutations involving exons encoding Gsα was diagnosed.
28453643
2017