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MED12-Related Disorders.
Lyons MJ. Lyons MJ. 2008 Jun 23 [updated 2021 Aug 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2008 Jun 23 [updated 2021 Aug 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301719 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of an MED12-related disorder is established in a male by identification of a hemizygous MED12 pathogenic variant on molecular genetic testing. The diagnosis of an MED12-related disorder is established in a female with suggesti …
DIAGNOSIS/TESTING: The diagnosis of an MED12-related disorder is established in a male by identification of a hemizygous MED12 …
MED12 loss activates endogenous retroelements to sensitise immunotherapy in pancreatic cancer.
Tang Y, Tang S, Yang W, Zhang Z, Wang T, Wu Y, Xu J, Pilarsky C, Mazzone M, Wang LW, Sun Y, Tian R, Tang Y, Wang Y, Wang C, Xue J. Tang Y, et al. Gut. 2024 Nov 11;73(12):1999-2011. doi: 10.1136/gutjnl-2024-332350. Gut. 2024. PMID: 39216984
Mechanistically, MED12 stabilised heterochromatin protein HP1A to repress H3K9me3-marked endogenous retroelements. ...Moreover, we uncovered a negative correlation between MED12 expression and immune resposne pathways, retrotransposon levels as well as the prognosis …
Mechanistically, MED12 stabilised heterochromatin protein HP1A to repress H3K9me3-marked endogenous retroelements. ...Moreover, we un …
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV, Brouwer AP. Plassche SV, et al. Genes (Basel). 2021 Apr 28;12(5):663. doi: 10.3390/genes12050663. Genes (Basel). 2021. PMID: 33925166 Free PMC article. Review.
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. ...The discovery of these patterns would help in future diagnostics and determine the causality of the MED12 variants....
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. ...The discovery of these patterns wou …
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
MED12: is a member of the large Mediator complex, which has a critical and central role in RNA polymerase II transcription. ...It is likely that more MED12 mutations will be detected in sporadic patients and X-linked families with intellectual disability and dysmorp …
MED12: is a member of the large Mediator complex, which has a critical and central role in RNA polymerase II transcription. ...It is …
MED12 mutation activates the tryptophan/kynurenine/AHR pathway to promote growth of uterine leiomyomas.
Zuberi A, Huang Y, Dotts AJ, Wei H, Coon JS 5th, Liu S, Iizuka T, Wu O, Sotos O, Saini P, Chakravarti D, Boyer TG, Dai Y, Bulun SE, Yin P. Zuberi A, et al. JCI Insight. 2023 Sep 22;8(18):e171305. doi: 10.1172/jci.insight.171305. JCI Insight. 2023. PMID: 37607000 Free PMC article.
Driver mutations in the transcriptional mediator complex subunit 12 (MED12) gene in uterine myometrial cells initiate 70% of leiomyomas that grow in a progesterone-dependent manner. We showed a distinct chromatin occupancy landscape of MED12 in mutant MED12 ( …
Driver mutations in the transcriptional mediator complex subunit 12 (MED12) gene in uterine myometrial cells initiate 70% of leiomyom …
Genome-scale CRISPR-Cas9 knockout screening in human cells.
Shalem O, Sanjana NE, Hartenian E, Shi X, Scott DA, Mikkelson T, Heckl D, Ebert BL, Root DE, Doench JG, Zhang F. Shalem O, et al. Science. 2014 Jan 3;343(6166):84-87. doi: 10.1126/science.1247005. Epub 2013 Dec 12. Science. 2014. PMID: 24336571 Free PMC article.
Our highest-ranking candidates include previously validated genes NF1 and MED12, as well as novel hits NF2, CUL3, TADA2B, and TADA1. We observe a high level of consistency between independent guide RNAs targeting the same gene and a high rate of hit confirmation, demonstra …
Our highest-ranking candidates include previously validated genes NF1 and MED12, as well as novel hits NF2, CUL3, TADA2B, and TADA1. …
MED12 dysregulation: insights into cancer and therapeutic resistance.
Bhole R, Shinkar J, Labhade S, Karwa P, Kapare H. Bhole R, et al. Naunyn Schmiedebergs Arch Pharmacol. 2025 Aug;398(8):10049-10069. doi: 10.1007/s00210-025-04006-0. Epub 2025 Mar 19. Naunyn Schmiedebergs Arch Pharmacol. 2025. PMID: 40105922 Review.
This review explores the mechanisms underlying MED12 dysregulation, its impact on cancer progression, and its association with therapeutic resistance. By examining its potential as a predictive biomarker and a therapeutic target, the article underscores the importance of …
This review explores the mechanisms underlying MED12 dysregulation, its impact on cancer progression, and its association with therap …
MED12, TERT and RARA in fibroepithelial tumours of the breast.
Chang HY, Koh VCY, Md Nasir ND, Ng CCY, Guan P, Thike AA, Teh BT, Tan PH. Chang HY, et al. J Clin Pathol. 2020 Jan;73(1):51-56. doi: 10.1136/jclinpath-2019-206208. Epub 2019 Oct 29. J Clin Pathol. 2020. PMID: 31662438 Review.
The most noteworthy discovery was of recurrent MED12 mutations in both fibroadenomas and PTs. Subsequent studies also uncovered relatively frequent genetic mutations in TERT promoter and RARA A customised panel of 16 most frequently mutated genes in fibroepithelial tissues …
The most noteworthy discovery was of recurrent MED12 mutations in both fibroadenomas and PTs. Subsequent studies also uncovered relat …
Interaction between MED12 and deltaNp63 activates basal identity in pancreatic ductal adenocarcinoma.
Maia-Silva D, Cunniff PJ, Schier AC, Skopelitis D, Trousdell MC, Moresco P, Gao Y, Kechejian V, He XY, Sahin Y, Wan L, Alpsoy A, Liverpool J, Krainer AR, Egeblad M, Spector DL, Fearon DT, Dos Santos CO, Taatjes DJ, Vakoc CR. Maia-Silva D, et al. Nat Genet. 2024 Jul;56(7):1377-1385. doi: 10.1038/s41588-024-01790-y. Epub 2024 Jun 17. Nat Genet. 2024. PMID: 38886586 Free PMC article.
Here we performed marker-based genetic screens in search of factors needed to maintain basal identity in pancreatic ductal adenocarcinoma (PDAC). This approach revealed MED12 as a powerful regulator of the basal cell state in this disease. Using biochemical reconstitution …
Here we performed marker-based genetic screens in search of factors needed to maintain basal identity in pancreatic ductal adenocarcinoma (P …
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A, Bapna M, Al-Saif H, Li R, Couser NL. Shah A, et al. Ophthalmic Genet. 2022 Feb;43(1):126-129. doi: 10.1080/13816810.2021.1989601. Epub 2021 Oct 20. Ophthalmic Genet. 2022. PMID: 34670449
BACKGROUND: MED12-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of MED12-related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS), and F …
BACKGROUND: MED12-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteri …
717 results