|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
CTD_human |
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
|
2109828 |
1990 |
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
CTD_human |
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.
|
2122458 |
1990 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GNAS1 gene leading to Gs alpha protein deficiency are known to be associated with pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy) and certain pituitary tumors with acromegaly.
|
1904395 |
1991 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings further illustrate the heterogeneity of GNAS1 gene defects in AHO.
|
1505964 |
1992 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variation in the phenotypic expression of Albright's hereditary osteodystrophy (AHO) determined by the parent of transmission, suggests that the human Gs alpha gene (GNAS1), in which mutations occur in AHO, may be under imprinted control.
|
7815417 |
1994 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating and activating mutations in the gene encoding G alpha s (GNAS1) are known to be the basis for 2 well-described contrasting clinical disorders, Albright hereditary osteodystrophy (AHO) and McCune-Albright syndrome (MAS).
|
8699958 |
1996 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Subsequently, one was identified as Gnas, which encodes a G protein alpha subunit, and there is clinical and biochemical evidence that the human homologue GNAS1, mutated in patients with Albright hereditary osteodystrophy, is also imprinted.
|
10097123 |
1999 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using PCR with the attachment of a high melting domain (GC-clamp) and temperature gradient gel electrophoresis, two novel heterozygous frameshift mutations within GNAS1 were found in two AHO kindreds.
|
10487696 |
1999 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of GNAS1 using genomic DNA of peripheral blood and of lesional and nonlesional tissue from our patient revealed a heterozygous 4-base pair (bp) deletion in exon 7, identical to mutations that have been found in some AHO patients.
|
11092389 |
2000 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of patients with classic POH (with no AHO features) is necessary to determine whether the molecular basis of POH is caused by inactivating mutations in the GNAS1 gene.
|
11092391 |
2000 |
|
Albright's hereditary osteodystrophy
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
We report a patient with PTH-resistant hypocalcemia and hyperphosphatemia but without evidence for Albright hereditary osteodystrophy who has paternal uniparental isodisomy of chromosome 20q and lacks the maternal-specific methylation pattern within GNAS1.
|
11294659 |
2001 |
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
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 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evidence suggests that the variable and tissue-specific hormone resistance observed in PHP Ia may result from tissue-specific imprinting of the GNAS1 gene, although the Gsalpha knockout model only in part reproduces the human AHO phenotype.
|
11720871 |
2001 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate G(s) in their target tissues (pseudohypoparathyroidism type IA).
|
11588148 |
2001 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conducted clinical and biological studies including screening for mutations in the gene encoding the alpha subunit of G(s) (GNAS1) in 30 subjects (21 unrelated families) with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP); and decreased erythrocyte G(s) activity (PHP-Ia; n = 19); AHO and decreased erythrocyte G(s) activity (isolated AHO; n = 10); or AHO, hormonal resistance, and normal erythrocyte G(s) activity (PHP-Ic; n = 1).
|
11788646 |
2002 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene.
|
12147228 |
2002 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both the PHPIa and PPHP forms of AHO result from heterozygous deactivating mutations in the GNAS1 gene associated with a 50% reduction in bioactivity of the Gsalpha protein that it encodes.
|
12541184 |
2002 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Small insertions and deletions or point mutations of GNAS1 are found in approximately 80% of patients with AHO.
|
12407707 |
2002 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.
|
12656668 |
2003 |
|
Albright's hereditary osteodystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To evaluate whether molecular diagnosis is a useful tool to characterize AHO and PHP when testing for Gsalpha activity and PTH resistance is not available, we have performed GNAS1 mutational analysis in 43 patients with PTH resistance and/or AHO.
|
12621129 |
2003 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with PHP la have somatic defects termed Albright's hereditary osteodystrophy (AHO) and exhibit resistance to additional hormones because of heterozygous mutations in the GNAS1 gene that lead to a generalized deficiency of the a subunit of Gs, the heterotrimeric G protein that couples receptors to adenylyl cyclase.
|
12619926 |
2003 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy (AHO) is a genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications.
|
12970262 |
2003 |
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this report, we describe two unrelated patients with mental retardation and brachydactyly E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) syndrome.
|
15547662 |
2004 |