|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, patients with hormone resistance and AHO-like features in whom coding Gsalpha mutations have been excluded should be evaluated for epigenetic alterations within GNAS.
|
17405843 |
2007 |
|
Albright's hereditary osteodystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
GNAS was expressed equally from each allele in normals and two of five AHO patients. cAMP generation was significantly reduced in nasal respiratory epithelial cells from AHO patients, compared with normal controls (0.4 vs. 0.6, P = 0.0008).
|
17652219 |
2007 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We evaluated 67 patients with AHO (49 with PHP1A, 18 with PPHP) with documented mutations in GNAS.
|
29059381 |
2018 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation.
|
18553568 |
2008 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) resistance] and PPHP (phenotype resembling AHO, without PTH resistance), but (epi)genetic analysis of the GNAS locus ruled out the suspected diagnosis.
|
24945424 |
2014 |
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
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 |
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
MGD |
Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.
|
26671181 |
2016 |
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
MGD |
When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP).
|
21747923 |
2011 |
|
Albright's hereditary osteodystrophy
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Microdeletions that alter GNAS methylation and, thereby, diminish Gsα expression in tissues in which the paternal Gsα allele is normally silenced also cause hormone resistance, which occurs typically in the absence of AHO, a disorder termed pseudohypoparathyroidism type-Ib.
|
25851935 |
2015 |
|
Albright's hereditary osteodystrophy
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Features of Albright's hereditary osteodystrophy (AHO) are typically not observed in patients affected by familial forms of PHP-Ib, which are most frequently caused by maternally inherited, heterozygous microdeletions within STX16 and are associated with isolated loss of methylation at GNAS exon A/B.
|
20538864 |
2010 |
|
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 |
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 |
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 |
In addition, three of the 15 patients with AHO features but normal Gs alpha activity had genetic variations of GNAS.
|
16789630 |
2006 |
|
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 |
We analyzed the GNAS gene in a male with typical AHO and elevated PTH levels.
|
25502941 |
2015 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in Gsα-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, brachydactyly, cognitive impairment, and heterotopic ossification.
|
28889026 |
2018 |
|
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 |
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 |
We describe a family with AHO and hormone resistance (PHP type Ia) resulting from a rare mutation in GNAS1.
|
19863504 |
2010 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia.
|
17299070 |
2007 |
|
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 |
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 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
|
19856255 |
2010 |