|
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 |
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 |
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
|
19856255 |
2010 |
|
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
POH is at the severe end of a spectrum of GNAS-associated ossification disorders that include osteoma cutis and Albright Hereditary Osteodystrophy (AHO).
|
19900597 |
2010 |
|
Albright's hereditary osteodystrophy
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
|
20061437 |
2010 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical and molecular genetic analysis of a patient with features of AHO and review of exclusive exon 1 mutations of GNAS.
|
19658058 |
2010 |
|
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 |
Heterozygous inactivating mutations within Gsalpha-encoding GNAS exons are found in patients with PHP-Ia, who also show resistance to other hormones and a constellation ofphysical features called Albright's hereditary osteodystrophy (AHO).
|
18372789 |
2008 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify a GNAS mutation in a patient with a severe form of AHO and pseudohypoparathyroidism type 1a with phocomelia and to perform PGD on embryos derived by in vitro fertilization to deliver an unaffected infant.
|
18089698 |
2008 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating maternally inherited mutations of GNAS (including translation initiation mutations, amino acid substitutions, nonsense mutations, splice site mutations and small insertions or deletions) lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia.
|
18394017 |
2008 |
|
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 |
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 |
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 |
Obesity is a prominent feature of Albright hereditary osteodystrophy (AHO), a disorder caused by heterozygous GNAS mutations that disrupt the stimulatory G protein alpha-subunit Galpha(s).
|
17164301 |
2007 |
|
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 |
Albright hereditary osteodystrophy is caused by heterozygous inactivating mutations in GNAS, a gene that encodes not only the alpha-chain of Gs (Galphas), but also NESP55 and XLalphas through use of alternative first exons.
|
16099856 |
2005 |
|
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 |
Pseudohypoparathyroidism type 1B, in which patients develop PTH resistance without AHO, is almost always associated with a GNAS imprinting defect in which both alleles have a paternal-specific imprinting pattern on both parental alleles.
|
15331575 |
2004 |
|
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800).
|
14723729 |
2004 |
|
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 |