Pseudohypoparathyroidism Type 1B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.
|
30616679 |
2019 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.
|
29445425 |
2018 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsα.
|
28902630 |
2017 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
|
25005734 |
2015 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
Biomarker
|
disease |
BEFREE |
We investigated the underlying molecular mechanism of GNAS imprinting defects in two patients with sporadic PHP1b.
|
23144470 |
2013 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
|
23649963 |
2013 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
Biomarker
|
disease |
CTD_human |
We designed two primer pairs specific for the methylated and unmethylated alleles and evaluated the methylation status of GNAS exon A/B in samples from PHP-1b patients and normal controls.
|
21836370 |
2011 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B region, which is combined with epigenetic defects at other differentially methylated GNAS regions in most sporadic cases.
|
21836370 |
2011 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
|
20008020 |
2010 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
Biomarker
|
disease |
BEFREE |
Imprinting of one differentially methylated region within GNAS is virtually always lost in pseudohypoparathyroidism type 1B, and this region is probably responsible for tissue-specific G(s)alpha imprinting.
|
15331575 |
2004 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.
|
12858292 |
2003 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This GNAS1 imprinting defect is predicted to decrease Gs(alpha) expression in tissues where Gs(alpha) is normally imprinted and therefore to lead to renal parathyroid hormone resistance.
|
12119276 |
2002 |
Pseudohypoparathyroidism Type 1B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Pseudohypoparathyroidism Type 1B
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|