|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.
|
24746821 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
|
21868628 |
2011 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations were equally distributed among karyotypically normal and abnormal uterine leiomyomas and were identified in leiomyomas from both black and white American women.
|
22428002 |
2012 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer.
|
23836153 |
2013 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations were closely associated with the development of uterine leiomyomas, as opposed to other uterine pathologies in Chinese patients, and PCR-based HRMA was found to be a reliable method for the detection of MED12 mutations.
|
25615570 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 gene was mutated in 31.07 % of the uterine leiomyomas.
|
26298726 |
2016 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations in leiomyomas with bizarre nuclei were detected outside the hotspot region.
|
27363490 |
2016 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
MED12-negative leiomyomas contain copy number alterations involving the Mediator complex subunits such as MED8, MED18, CDK8, and long intergenic nonprotein coding RNA340 (CASC15), which may affect the Mediator architecture and/or its transcriptional activity.
|
27889101 |
2017 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations were the most common alterations in conventional and mitotically active leiomyomas and leiomyosarcomas, while leiomyomas with bizarre nuclei were most often FH deficient and cellular tumors showed frequent HMGA2 overexpression.
|
28592321 |
2017 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations in the fibroids were screened by Sanger sequencing. iTRAQ was used to label the peptides in small-, medium-, and large-sized fibroid samples of annotated MED12 mutation from the same patient.
|
29730954 |
2019 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
Albeit at a lesser rate, loss of MED12-mutated cells from cell cultures of UL occurs even without passaging thus indicating the requirement of soluble factors or matrix components lacking in vitro.
|
28410233 |
2017 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although the role of MED12 exon 2 mutations is documented in the pathogenesis of uterine leiomyomas, its role in extrauterine smooth muscle tumorigenesis is less clear.
|
27389556 |
2018 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Among uterine smooth muscle tumours, MED12 mutations are frequently present in conventional leiomyomas, but are significantly less common in histological variants of leiomyoma and leiomyosarcoma.
|
23347103 |
2013 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
An unsupervised hierarchical clustering analysis revealed two main clusters with one of them (26 of 42 UL) showing an enrichment of MED12 mutated cases (18 of 26 UL).
|
30376129 |
2018 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Cells of one genetic subtype of UL, i.e., those with rearrangements of the high mobility AT-hook 2 protein gene (HMGA2), seem to be able to proliferate in vitro for many passages whereas tumor cells from the much more frequent MED12-mutated lesions barely survive even the first passages.
|
24446130 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Exome sequencing identified that the majority of leiomyomas display highly specific MED12 mutations.
|
25106763 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Frequent mutations in MED12 exon 2 in the phyllodes tumors suggest that it may share genetic etiology with uterine leiomyoma, a subgroup of uterine leiomyosarcomas and breast fibroadenoma.
|
25865354 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Furthermore, the mutation spectrum of MED12 in the concurrent leiomyomas was noticeably different.
|
28693134 |
2017 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here, we observed that overexpression of HMGA2 mRNA in tumors measured by quantitative PCR and compared to myometrium is a common phenomenon in fibroids and is frequently associated with MED12 mutations.
|
30017537 |
2018 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, G>A transitions of nucleotides c.130 or c.131 correlate with a significantly larger size of the fibroids compared to other MED12 mutations thus explaining the high prevalence of the former mutations among clinically detectable fibroids.
|
22223266 |
2012 |
|
Uterine Fibroids
|
0.100 |
PosttranslationalModification
|
group |
BEFREE |
However, genetic alterations (especially MED12 and HMGA2) and involvement of epigenetic mechanisms (DNA methylation, histone modifications, and microRNA) in leiomyoma provide the clue of initiator of this tumor.
|
23557758 |
2013 |
|
Uterine Fibroids
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Immunoblotting studies demonstrated MED12 protein expression in 100% of leiomyomas (13) and leiomyosarcomas (20), irrespective of MED12 exon 2 mutation status or histological grade.
|
23222489 |
2013 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast to usual-type leiomyoma with a high frequency of MED12 mutations, no MED12 mutations were found in any HLM.
|
30292626 |
2019 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast, MED12 mutations were extremely common in ULM and MALM (> 74%) but were significantly less common (< 15%) in CLM, ALM, STUMP, and LMS (P < .01).
|
24986214 |
2014 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
In contrast, TAF in MED12-LM proliferated in response to estradiol, whereas progesterone had no effect.
|
29055020 |
2017 |