Med12 gain-of-function mutation causes leiomyomas and genomic instability
نویسندگان
چکیده
منابع مشابه
Med12 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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Uterine leiomyomas are one of the most common benign gynecologic tumors, but the exact causes are not completely understood. In 2011, through DNA sequencing, MED12 mutation was discovered in approximately 71% of uterine leiomyomas. Several recent studies confirmed the high frequency of MED12 mutation in uterine leiomyoma. Nevertheless, no study has been done on MED12 mutation in the case of pat...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2015
ISSN: 0021-9738
DOI: 10.1172/jci81534