AROMATASE EXCESS SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Conclusions We identified a novel duplication at 15q21.2 in AEXS, and found that aromatase inhibitor (AI) plus GH might provide a better growth-promoting approach for AEXS patients.
|
30530883 |
2019 |
AROMATASE EXCESS SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
CYP19A1 amplification caused increased aromatase activity and estrogen-independent ERα binding to target genes, resulting in CYP19A1<sup>amp</sup> cells showing decreased sensitivity to AI treatment.
|
28112739 |
2017 |
AROMATASE EXCESS SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, several germline rearrangements at 15q21 have been shown to cause overexpression of the aromatase gene CYP19A1 and resulting aromatase excess syndrome.
|
23625277 |
2014 |
AROMATASE EXCESS SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Treatment with an aromatase inhibitor appears to benefit patients with AEXS, although long-term safety of this class of drugs remains unknown.
|
24716396 |
2014 |
AROMATASE EXCESS SYNDROME
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.
|
24064691 |
2013 |
AROMATASE EXCESS SYNDROME
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.
|
24064691 |
2013 |
AROMATASE EXCESS SYNDROME
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genotype-phenotype analysis implies that phenotypic severity of AEXS is primarily determined by the expression pattern of CYP19A1 and the chimeric genes and by the structural property of the fused exons with a promoter function (i.e., the presence or the absence of a natural translation start codon).
|
22319526 |
2012 |
AROMATASE EXCESS SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.
|
21470988 |
2011 |
AROMATASE EXCESS SYNDROME
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.
|
21470988 |
2011 |
AROMATASE EXCESS SYNDROME
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Taken together, these results suggest that PGE(2) via EP(2) and EP(4) activates the cAMP-->PKA-->CREB pathway leading to enhanced CYP19 transcription and increased aromatase activity.
|
18083712 |
2008 |
AROMATASE EXCESS SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
EGF significantly increased aromatase activity and CYP19 gene transcript in NCI-H295R cells.
|
16394175 |
2006 |
AROMATASE EXCESS SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
5'-RACE finding points to a potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of AES.
|
15811932 |
2005 |
AROMATASE EXCESS SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Aromatase inhibitors successfully treat breast cancer and endometriosis, whereas their roles in endometrial cancer, uterine fibroids, and aromatase excess syndrome are less clear.
|
16109840 |
2005 |
AROMATASE EXCESS SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, a family with the aromatase excess syndrome is described, in which the condition was inherited in an autosomal dominant manner, led to feminizing manifestations in both sexes, and was associated with the aberrant utilization of a novel transcript of the P450arom gene.
|
9543166 |
1998 |
AROMATASE EXCESS SYNDROME
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
AROMATASE EXCESS SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|