|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.
|
7751320 |
1995 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis.
|
29984378 |
2018 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
|
10571700 |
1999 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
|
1594625 |
1992 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
|
1944469 |
1991 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
McCune-Albright syndrome (MAS) is caused by mutations in GNAS (most often R201C or R201H) leading to constitutive cAMP signaling and multiple endocrine dysfunctions, including morphological and functional thyroid involvement.
|
18349068 |
2008 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Constructs expressing the MAS mutation (R201H), the MAS mutation plus the mutations homologous to the yeast suppressors (R201H, F222P/D223V), or the yeast suppressor mutation alone (F222P/D223V) were transfected into HEK293 cells, and basal and receptor-stimulated cAMP levels were measured.
|
23288949 |
2013 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene.
|
29104223 |
2017 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.
|
17101633 |
2006 |
|
Acth-Independent Macronodular Adrenal Hyperplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
|
12727968 |
2003 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
Direct sequencing of 9 parosteal osteosarcomas, including 3 of low grade and 6 with dedifferentiation, revealed activating GNAS mutations in 5 cases (55%), distributed as 4 R201C-mutated tumors and 1 tumor with an R201H mutation.
|
24525511 |
2014 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
To ascertain the frequency in colon cancer we employed a sensitive pyrosequencing platform for mutation detection of the R201C and R201H GNAS hotspots in tumor samples representing all clinical stages.
|
24498230 |
2014 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
Molecular screening failed to find mutations in RAS, TP53, and BRAF hot spots, whereas Arg201His mutation in GNAS gene (gsp oncogene), absent in the previous surgical materials, was detected in the tumor from the last surgery, which was found to be monoclonal.
|
19890024 |
2010 |
|
Fibrous Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
An R201H mutation was detected in this case, thus confirming a diagnosis of fibrous dysplasia.
|
23503642 |
2013 |
|
Fibrous Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
The lesions were tested for the R201H mutation in the GNAS gene, which is present in fibrous dysplasia.
|
25118809 |
2014 |
|
Fibrous Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Two cell models, BMSCs treated with excess exogenous cAMP and BMSCs infected with lentivirus GNAS R201H, were established to model the pathological conditions of FD and used to investigate its pathogenesis.
|
22450860 |
2012 |
|
Fibrous Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Eleven of 14 (79%) FD cases had GNAS mutations within codon 201 (5 R201C and 6 R201H mutations).
|
24525511 |
2014 |
|
Fibrous Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Twenty-three cases of fibrous dysplasia (45%) showed mutations of codon 201 (exon 8, p.R201H or p.R201C).
|
23370769 |
2013 |
|
Sarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Molecular genetic analysis revealed an identical R201H substitution in the GNAS1 gene in the sarcoma, the myxoma, and also the conventional fibrous dysplasia.
|
29804209 |
2019 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC.
|
23532108 |
2013 |
|
Intraductal papillary mucinous neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
GNAS(R201H) and Kras(G12D) cooperate to promote murine pancreatic tumorigenesis recapitulating human intraductal papillary mucinous neoplasm.
|
26257060 |
2016 |
|
Anaplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Direct sequencing of 9 parosteal osteosarcomas, including 3 of low grade and 6 with dedifferentiation, revealed activating GNAS mutations in 5 cases (55%), distributed as 4 R201C-mutated tumors and 1 tumor with an R201H mutation.
|
24525511 |
2014 |
|
Precocious Puberty
|
|
0.010 |
GeneticVariation
|
BEFREE |
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.
|
17101633 |
2006 |
|
Pancreatic Intraductal Papillary Mucinous Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC.
|
23532108 |
2013 |
|
Colon Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To ascertain the frequency in colon cancer we employed a sensitive pyrosequencing platform for mutation detection of the R201C and R201H GNAS hotspots in tumor samples representing all clinical stages.
|
24498230 |
2014 |