McCune-Albright Syndrome
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0.850 |
CausalMutation
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CLINVAR |
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Acth-Independent Macronodular Adrenal Hyperplasia
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0.800 |
CausalMutation
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CLINVAR |
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Sex Cord-Stromal Tumor
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0.700 |
CausalMutation
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CLINVAR |
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PITUITARY ADENOMA 3, MULTIPLE TYPES
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|
0.700 |
CausalMutation
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CLINVAR |
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McCune-Albright Syndrome
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|
0.850 |
GeneticVariation
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UNIPROT |
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
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1944469 |
1991 |
McCune-Albright Syndrome
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0.850 |
GeneticVariation
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UNIPROT |
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
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1594625 |
1992 |
McCune-Albright Syndrome
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0.850 |
GeneticVariation
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UNIPROT |
Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.
|
7751320 |
1995 |
McCune-Albright Syndrome
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0.850 |
GeneticVariation
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UNIPROT |
A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
|
10571700 |
1999 |
Acth-Independent Macronodular Adrenal Hyperplasia
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|
0.800 |
GeneticVariation
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UNIPROT |
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
|
12727968 |
2003 |
McCune-Albright Syndrome
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0.850 |
CausalMutation
|
CLINVAR |
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
|
15126527 |
2004 |
McCune-Albright Syndrome
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|
0.850 |
GeneticVariation
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BEFREE |
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.
|
17101633 |
2006 |
Precocious Puberty
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|
0.010 |
GeneticVariation
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BEFREE |
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.
|
17101633 |
2006 |
Cryptogenic sexual precocity
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|
0.010 |
GeneticVariation
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BEFREE |
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.
|
17101633 |
2006 |
McCune-Albright Syndrome
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|
0.850 |
GeneticVariation
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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 |
Neoplasms
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0.730 |
GeneticVariation
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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.
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19890024 |
2010 |
Neoplasms
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0.730 |
GeneticVariation
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CLINVAR |
GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.
|
21835143 |
2012 |
Neoplasms
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0.730 |
GeneticVariation
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CLINVAR |
GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.
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21835143 |
2012 |
Fibrous Dysplasia
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0.050 |
GeneticVariation
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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 |
McCune-Albright Syndrome
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0.850 |
CausalMutation
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CLINVAR |
Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
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23536913 |
2013 |
McCune-Albright Syndrome
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0.850 |
GeneticVariation
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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.
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23288949 |
2013 |
Fibrous Dysplasia
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0.050 |
GeneticVariation
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BEFREE |
An R201H mutation was detected in this case, thus confirming a diagnosis of fibrous dysplasia.
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23503642 |
2013 |
Fibrous Dysplasia
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0.050 |
GeneticVariation
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BEFREE |
Twenty-three cases of fibrous dysplasia (45%) showed mutations of codon 201 (exon 8, p.R201H or p.R201C).
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23370769 |
2013 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
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0.010 |
GeneticVariation
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BEFREE |
However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC.
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23532108 |
2013 |
Pancreatic Intraductal Papillary Mucinous Neoplasm
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0.010 |
GeneticVariation
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BEFREE |
However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC.
|
23532108 |
2013 |
Neoplasms
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|
0.730 |
GeneticVariation
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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.
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24525511 |
2014 |