Uterine Leiomyoma-Linked MED12 Mutations Disrupt Mediator-Associated CDK Activity
نویسندگان
چکیده
منابع مشابه
Missense mutations in exon 2 of the MED12 gene are involved in IGF-2 overexpression in uterine leiomyoma.
Uterine leiomyoma (UL), the most common benign tumour found in females, is associated with many recurrent genetic aberrations, such as translocations, interstitial deletions and specific germline mutations. Among these, mutations affecting exon 2 of the mediator complex subunit 12 (MED12) gene are commonly detected in the majority of ULs. Mutational analysis of the MED12 gene, performed on 36 U...
متن کاملUterine Leiomyoma: Hysterosalpingographic Appearances
Uterine leiomyoma is the most common benign tumor of genital tract. The etiology of myomas is unknown. Leiomyoma shows a broad spectrum of radiographic appearances depending on the number, size, and location of the tumor. The diagnostic method for uterine leiomyomas is based primarily on the clinical situation. Despite of the varied diagnostic options such as; transvaginal sonography, sonohyste...
متن کاملPrevalence and clinical significance of mediator complex subunit 12 mutations in 362 Han Chinese samples with uterine leiomyoma
Uterine leiomyomas (ULs) are the most common gynecological benign tumors originating from the myometrium. Prevalent mutations in the mediator complex subunit 12 (MED12) gene have been identified in ULs, and functional evidence has revealed that these mutations may promote the development of ULs. However, whether MED12 mutations are associated with certain clinical characteristics in ULs remains...
متن کاملPulmonary benign metastasizing leiomyoma from uterine leiomyoma
BACKGROUND Benign metastasizing leiomyoma (BML) occurs in a low proportion of uterine leiomyomas and treatment methods for BML are diverse and controversial. The study introduces preliminary experiences in the diagnosis and treatment of BML with the purpose of finding a suitable management strategy for these patients. METHODS Three patients with BML were treated in our department from April 2...
متن کاملMed12 gain-of-function mutation causes leiomyomas and genomic instability.
Uterine leiomyomas are benign tumors that can cause pain, bleeding, and infertility in some women. Mediator complex subunit 12 (MED12) exon 2 variants are associated with uterine leiomyomas; however, the causality of MED12 variants, their genetic mode of action, and their role in genomic instability have not been established. Here, we generated a mouse model that conditionally expresses a Med12...
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ژورنال
عنوان ژورنال: Cell Reports
سال: 2014
ISSN: 2211-1247
DOI: 10.1016/j.celrep.2014.03.047