|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings further illustrate the heterogeneity of GNAS1 gene defects in AHO.
|
1505964 |
1992 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
|
7523385 |
1994 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
|
8388883 |
1993 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
|
8702665 |
1996 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Conditional activation defect of a human Gsalpha mutant.
|
9159128 |
1997 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
|
9328353 |
1997 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
|
9328353 |
1997 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
BEFREE |
The differential imprinting of separate protein products of GNAS1 therefore may contribute to the anomalous inheritance of PHP Ia.
|
9707596 |
1998 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Because the inheritance of PHP-Ia predicts the existence of maternally, rather than paternally, expressed transcripts, we have investigated the allelic origin of other mRNAs derived from GNAS1.
|
9860993 |
1998 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The pseudohypoparathyroid disorders appear to represent a heterogeneous group with GNAS1 mutations forming the molecular aetiology in approximately 50% of pseudohypoparathyroidism type Ia families.
|
9876352 |
1998 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivation of one GNAS1 gene allele encoding the alpha chain of G(s) (G alpha(s)) causes pseudohypoparathyroidism type Ia.
|
11029463 |
2001 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The abnormal regulation of mineral ion homeostasis is paternally imprinted, such as in PHP-Ia/pPHP kindreds, Gs alpha activity/protein is normal in fibroblasts and blood cells, and no GNAS1 mutations have been identified.
|
11033761 |
2000 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
|
11092390 |
2000 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |