Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neonatal osteoma cutis due to a mutation in GNAS.
|
31215057 |
2019 |
Osteoma cutis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Moreover, findings obtained in animal experiments support the assumption that human POH represents such superimposed segmental manifestation of GNAS inactivation disorders.
|
27058263 |
2016 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genomic study revealed no GNAS mutation.He had POH and PHP Ia.
|
25894639 |
2015 |
Osteoma cutis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
|
25219572 |
2015 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma.
|
24517547 |
2014 |
Osteoma cutis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We observed rapid ectopic cartilage and bone induction at the axial and lateral positions in a unilateral distribution corresponding to the injected somites, which suggests that blocking GNAS activity in a targeted population of progenitor cells can lead to mosaic ectopic ossification reminiscent of that seen in POH.
|
23863715 |
2013 |
Osteoma cutis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.
|
23796510 |
2013 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report genetic and epigenetic analyses of GNAS locus in 10 patients affected with POH or primary OC, further expanding the spectrum of mutations associated with this rare disease and indicating that, unlike PHP, methylation alterations at the same locus are absent or uncommon in this disorder.
|
23796510 |
2013 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We collected birth parameters (ie, gestational age, weight, length, and head circumference) of patients with either PHP-Ia (n = 29) or PPHP/POH (n = 26) with verified GNAS mutations.
|
23884777 |
2013 |
Osteoma cutis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The patient displayed no other laboratory or physical abnormalities to suggest other GNAS-associated disorders of cutaneous ossification, including Albright's hereditary osteodystrophy or pseudohypoparathyroidism 1A, although a history of intrauterine growth restriction was troubling for progressive osseous heteroplasia.
|
22612068 |
2012 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations.
|
22679513 |
2012 |
Osteoma cutis
|
0.800 |
Biomarker
|
disease |
BEFREE |
A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia).
|
21816789 |
2011 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Histological analyses revealed intramembranous cutaneous bone formation resembling the findings seen in GNAS gene-based osteoma cutis disorders.
|
21062265 |
2011 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a novel GNAS1 mutation in a patient with POH.
|
20480732 |
2010 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1.
|
20427508 |
2010 |
Osteoma cutis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Here we describe two girls who have different clinical presentations that reflect the variable expression of GNAS-associated disorders of cutaneous ossification.
|
19900597 |
2010 |
Osteoma cutis
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1.
|
20427508 |
2010 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).
|
18553568 |
2008 |
Osteoma cutis
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation.
|
17321228 |
2007 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.
|
14723729 |
2004 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.
|
14723729 |
2004 |
Osteoma cutis
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.
|
14723729 |
2004 |
Osteoma cutis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia.
|
12605446 |
2003 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Paternally inherited inactivating GNAS1 mutations cause POH.
|
11784876 |
2002 |
Osteoma cutis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH.
|
11092389 |
2000 |