Analysis of MED12 Mutation in Multiple Uterine Leiomyomas in South Korean patients

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Analysis of MED12 Mutation in Multiple Uterine Leiomyomas in South Korean patients

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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MED12 exon 2 mutations are common in uterine leiomyomas from South African patients

Uterine leiomyomas, or fibroids, are extremely common tumors. Regardless of their benign nature, fibroids can cause considerable morbidity. Women with African ancestry have a threefold increased risk of developing uterine leiomyomas with a greater symptom severity when compared to white women. Recently, we demonstrated that exon 2 of the MED12 gene is somatically altered in up to 70 per cent of...

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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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Somatic mutational analysis of MED12 exon 2 in uterine leiomyomas of Iranian women.

Uterine leiomyomas are steroid-hormone dependent tumors of myometrial smooth muscle cells that affect numerous women throughout the world. Based on previous studies, we evaluated the mutations of MED12 gene which encodes a co-activator protein involved in transcription regulation of the vast majority of RNA polymerase II-dependent genes. Exon 2 of MED12 gene was genotyped by PCR-sequencing meth...

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ژورنال

عنوان ژورنال: International Journal of Medical Sciences

سال: 2018

ISSN: 1449-1907

DOI: 10.7150/ijms.21856