|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity.
|
30853154 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study investigates the presence of GNAQ mutations in diffuse (those associated with Sturge-Weber syndrome [SWS]) and solitary choroidal hemangiomas.
|
30537484 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.548G>A), was present in the choroidal hemangioma of a patient with Sturge-Weber syndrome.
|
30422215 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The maximum shear wave speed (SWS-max), the mean SWS (SWS-mean), the minimum SWS (SWS-min), the lesion-to-fat SWS ratio (SWS-L/F), and the lesion-to-gland SWS ratio (SWS-L/G) in malignant lesions were significantly higher than those in benign lesions (all P < 0.001).
|
30599880 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Several studies confirm the GNAQ R183Q mutation in 90% of nonsyndromic and Sturge-Weber syndrome (SWS) capillary malformations.
|
30870248 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In 2013, the causative mutation underlying SWS (p.R183Q somatic activating mutation in the guanine nucleotide-binding protein alpha-q (GNAQ) gene) was identified.
|
29476210 |
2018 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ.
|
28941044 |
2018 |
|
Sturge-Weber Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
These findings bring new insights on molecular etiology of vascular malformations associated to SWS and on different mechanisms underlying hyperactivation of downstream pathways to Gαq.
|
28779688 |
2017 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ.
|
28459499 |
2017 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing was performed to identify mutations in G protein subunit αq (GNAQ) and RAS p21 protein activator 1 exons in the 3 patients with SWS and other unaffected family members.
|
28454448 |
2017 |
|
Sturge-Weber Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns.
|
28126187 |
2017 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The GNAQ p.R183Q mutation was present in brain endothelial cells in two SWS specimens, with mutant allelic frequencies of 34.7% and 24.0%.
|
27919468 |
2017 |
|
Sturge-Weber Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
|
26778290 |
2016 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We reanalysed a somatic GNAQ mutation (c.548G > A) in patients with Sturge-Weber syndrome (SWS) using ddPCR and PNA-ddPCR.
|
26957145 |
2016 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks.
|
27268758 |
2016 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ.
|
26564078 |
2015 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A somatic GNAQ mutation was recently identified in patients with sporadic PWSs and Sturge-Weber syndrome.
|
25188413 |
2014 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for SWS and imply that other mutated candidate gene(s) may exist in SWS.
|
25374402 |
2014 |
|
Sturge-Weber Syndrome
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.
|
23656586 |
2013 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.
|
23656586 |
2013 |
|
Sturge-Weber Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.
|
23656586 |
2013 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.
|
23656586 |
2013 |
|
Sturge-Weber Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Sturge-Weber Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Sturge-Weber Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|