Proteus Syndrome
|
0.690 |
Biomarker
|
disease |
BEFREE |
Taking into consideration, recent results of the use of AKT inhibitors both in PS and AKT-mutant cancers, we treated the patient on a compassionate basis, with miransertib (ARQ 092), a potent, selective, allosteric AKT inhibitor.
|
31058421 |
2019 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p.(E17K) in AKT1.
|
31194862 |
2019 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers affecting multiple viscera.
|
30346092 |
2018 |
Proteus Syndrome
|
0.690 |
Biomarker
|
disease |
BEFREE |
Here, we sought to determine whether we could reverse the hypertrophy in SHP2Y279C/+ mice using ARQ 092, an oral and selective allosteric AKT inhibitor currently in clinical trials for patients with PI3K/AKT-driven tumors or Proteus syndrome.
|
28582432 |
2017 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Proteus syndrome (PS) is characterized by progressive, disproportionate, segmental overgrowth, and tumor susceptibility caused by a somatic mosaic AKT1 activating mutation.
|
27112325 |
2016 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
A somatic activating mutation in AKT1, c.49G>A, pGlu17Lys, that results in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome.
|
26657992 |
2015 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.
|
25782637 |
2015 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Although the patient did not meet the diagnostic criteria for Proteus syndrome, he was found to have the c.49G>A, p.Glu17Lys AKT1 mutation in lesional skin but not in his blood.
|
24850616 |
2014 |
Proteus Syndrome
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
|
23246288 |
2013 |
Proteus Syndrome
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.
|
21793738 |
2011 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.
|
21793738 |
2011 |
Proteus Syndrome
|
0.690 |
SomaticCausalMutation
|
disease |
ORPHANET |
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.
|
21793738 |
2011 |
Proteus Syndrome
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.
|
21793738 |
2011 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.
|
21793738 |
2011 |
Proteus Syndrome
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain.
|
18954143 |
2008 |
Proteus Syndrome
|
0.690 |
Biomarker
|
disease |
CTD_human |
|
|
|