Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.G44D
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MED12

NM_005120.3:p.G44D

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.

Yang B et al.

World Journal of Surgical Oncology, 2025

41121095 (PubMed )
Supplement: 12957_2025_4049_MOESM3_ESM.xlsx › Somatic_mutations

Tissue-Specific Genomic Evolution Despite Shared MED12 Mutations in Benign Tumors.

Namkung J et al.

Journal of Clinical Medicine, 2025

UTERINE FIBROIDS.

Bulun SE et al.

Physiological Reviews, 2025

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

The Mediator Complex: A Regulatory Hub for Transcriptional Activity of Nuclear Receptors.

Zhou L et al.

Cells, 2025

Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.

Jokinen V et al.

Bjc Reports, 2025

40016412 (PubMed )
Supplement: 44276_2025_127_MOESM3_ESM.xlsx › Sheet1

Differential Expression of Small Non-Coding RNAs in Uterine Leiomyomas.

Chuang TD et al.

International Journal of Molecular Sciences, 2025

Detection of exon2-MED12 mutations in uterine leiomyomas from Syrian patients.

Albitar L et al.

Scientific Reports, 2025

Targeted DNA Sequencing in Diagnosis of Malignant Phyllodes Tumors With Emphasis on Tumors With Keratin and p63 Expression.

Ye J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

Somatic MED12 Mutations in Myometrial Cells.

Li Y et al.

Cells, 2024

39273004 (PubMed )
Supplement: cells-13-01432-s001.zip › cells-3133120-supplementary.pdf

Malignant phyllodes tumor with EGFR variant III mutation: A rare case report with immunohistochemical and genomic studies.

Kitazono I et al.

Pathology, Research and Practice, 2024

The Mediator Complex Subunit 12 (MED-12) Gene and Uterine Fibroids: a Systematic Review.

Amendola ILS et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.

Chuang TD et al.

International Journal of Molecular Sciences, 2024

Gene variants polymorphisms and uterine leiomyoma: an updated review.

Upadhyay S et al.

Frontiers in Genetics, 2024

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

RISING STARS: Role of MED12 mutation in the pathogenesis of uterine fibroids.

Ishikawa H et al.

Journal of Molecular Endocrinology, 2023

Molecular Tumor Boards: The Next Step towards Precision Therapy in Cancer Care.

Liu A et al.

Hematology Reports, 2023

Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas.

Välimäki N et al.

American Journal of Human Genetics, 2023

Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.

Chuang TD et al.

International Journal of Molecular Sciences, 2023

MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.

Nagai K et al.

American Journal of Obstetrics and Gynecology, 2023

An integrative approach for exploring the nature of fibroepithelial neoplasms.

Yun J et al.

British Journal of Cancer, 2023

36522480 (PubMed )
Supplement: 41416_2022_2064_MOESM2_ESM.xlsx › Sheet1

Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women.

Jamaluddin MFB et al.

Frontiers in Reproductive Health, 2023

Are both distinct epithelial and stromal cells molecular analysis from phyllodes tumors versus fibroadenoma components affected in breast fibroepithelial progression?

Waitzberg ÂFL et al.

Acta Cirurgica Brasileira, 2023

Further characterization of tryptophan metabolism and its dysregulation in fibroids.

Chuang TD et al.

F&s Science, 2022

Analysis of recurrent molecular alterations in phyllodes tumour of breast: insights into prognosis and pathogenesis.

Tsang JY et al.

Pathology, 2022

Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.

Goad J et al.

Human Reproduction (oxford, England), 2022

A mediator complex subunit 12 gain-of-function mutation induces partial leiomyoma cell properties in human uterine smooth muscle cells.

Takao T et al.

F&s Science, 2022

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Comparison of MED 12 gene mutation and microRNA-124 expression in leiomyoma and myometrium of Turkish patients.

Demiroglu C et al.

Ginekologia Polska, 2022

Aberrant R-loop-induced replication stress in MED12-mutant uterine fibroids.

Muralimanoharan S et al.

Scientific Reports, 2022

Therapeutic and immunomodulatory potential of pazopanib in malignant phyllodes tumor.

Ng DYX et al.

Npj Breast Cancer, 2022

Tryptophan 2,3-Dioxygenase-2 in Uterine Leiomyoma: Dysregulation by MED12 Mutation Status.

Hutchinson AP et al.

Reproductive Sciences (thousand Oaks, Calif.), 2022

MED12 exon 2 and TERT promoter mutations in primary and recurrent breast fibroepithelial lesions.

Hu Y et al.

Pathology International, 2021

Long Noncoding RNA MIAT Modulates the Extracellular Matrix Deposition in Leiomyomas by Sponging MiR-29 Family.

Chuang TD et al.

Endocrinology, 2021

Identification and characterization of the mediator kinase-dependent myometrial stem cell phosphoproteome.

Barron L et al.

F&s Science, 2021

Insights into the regulatory role and clinical relevance of mediator subunit, MED12, in human diseases.

Srivastava S et al.

Journal of Cellular Physiology, 2021

Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

Aguilar M et al.

The Journal of Pathology, 2021

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Plassche SV et al.

Genes, 2021

Integrated mutational landscape analysis of uterine leiomyosarcomas.

Choi J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia-variant.

Locher M et al.

Genes, Chromosomes & Cancer, 2021

Vitamin D as an effective treatment in human uterine leiomyomas independent of mediator complex subunit 12 mutation.

Corachán A et al.

Fertility and Sterility, 2021

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

Kemps PG et al.

The Journal of Pathology. Clinical Research, 2021

32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf

Droplet-digital PCR reveals frequent mutations in TERT promoter region in breast fibroadenomas and phyllodes tumours, irrespective of the presence of MED12 mutations.

Otsuji K et al.

British Journal of Cancer, 2021

Structure and noncanonical Cdk8 activation mechanism within an Argonaute-containing Mediator kinase module.

Li YC et al.

Science Advances, 2021

Morphologic and genetic heterogeneity in breast fibroepithelial lesions-a comprehensive mapping study.

Tan BY et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."