Literature DB >> 23836153

MED12 mutations in human diseases.

Hua Wang1, Qin Shen2, Li-Hua Ye1, Jun Ye3.   

Abstract

The Mediator Complex plays key roles in activating gene transcription in eukaryotes. Mediator of RNA polymerase II transcription subunit 12 homolog (MED12) is a subunit of the Mediator Complex and regulates the activity of the complex. MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer. This review will discuss the biological function of MED12 and the relationship between MED12 mutations and diseases.

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Year:  2013        PMID： 23836153      PMCID： PMC4875528          DOI： 10.1007/s13238-013-3048-3

Source DB:  PubMed          Journal:  Protein Cell        ISSN： 1674-800X            Impact factor:   14.870


  36 in total

1.  A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

Authors:  P Rump; R C Niessen; K T Verbruggen; O F Brouwer; M de Raad; R Hordijk
Journal:  Clin Genet       Date:  2011-02       Impact factor: 4.438

2.  The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediator.

Authors:  Matthew T Knuesel; Krista D Meyer; Aaron J Donner; Joaquin M Espinosa; Dylan J Taatjes
Journal:  Mol Cell Biol       Date:  2008-12-01       Impact factor: 4.272

3.  The cyclin-dependent kinase 8 module sterically blocks Mediator interactions with RNA polymerase II.

Authors:  Hans Elmlund; Vera Baraznenok; Martin Lindahl; Camilla O Samuelsen; Philip J B Koeck; Steen Holmberg; Hans Hebert; Claes M Gustafsson
Journal:  Proc Natl Acad Sci U S A       Date:  2006-10-16       Impact factor: 11.205

Review 4.  Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).

Authors:  John M Graham; Robin D Clark; John B Moeschler; R Curtis Rogers
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-11-15       Impact factor: 3.908

5.  MED12 mutations in uterine fibroids--their relationship to cytogenetic subgroups.

Authors:  Dominique Nadine Markowski; Sabine Bartnitzke; Thomas Löning; Norbert Drieschner; Burkhard Maria Helmke; Jörn Bullerdiek
Journal:  Int J Cancer       Date:  2012-02-28       Impact factor: 7.396

6.  A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Authors:  Hiba Risheg; John M Graham; Robin D Clark; R Curtis Rogers; John M Opitz; John B Moeschler; Andreas P Peiffer; Melanie May; Sumy M Joseph; Julie R Jones; Roger E Stevenson; Charles E Schwartz; Michael J Friez
Journal:  Nat Genet       Date:  2007-03-04       Impact factor: 38.330

Review 7.  The metazoan Mediator co-activator complex as an integrative hub for transcriptional regulation.

Authors:  Sohail Malik; Robert G Roeder
Journal:  Nat Rev Genet       Date:  2010-10-13       Impact factor: 53.242

8.  The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Authors:  Charles E Schwartz; Patrick S Tarpey; Herbert A Lubs; Alain Verloes; Melanie M May; Hiba Risheg; Michael J Friez; P Andrew Futreal; Sarah Edkins; Jon Teague; Sylvain Briault; Cindy Skinner; Astrid Bauer-Carlin; Richard J Simensen; Sumy M Joseph; Julie R Jones; Josef Gecz; Michael R Stratton; F Lucy Raymond; Roger E Stevenson
Journal:  J Med Genet       Date:  2007-03-16       Impact factor: 6.318

9.  MED12 controls the response to multiple cancer drugs through regulation of TGF-β receptor signaling.

Authors:  Sidong Huang; Michael Hölzel; Theo Knijnenburg; Andreas Schlicker; Paul Roepman; Ultan McDermott; Mathew Garnett; Wipawadee Grernrum; Chong Sun; Anirudh Prahallad; Floris H Groenendijk; Lorenza Mittempergher; Wouter Nijkamp; Jacques Neefjes; Ramon Salazar; Peter Ten Dijke; Hidetaka Uramoto; Fumihiro Tanaka; Roderick L Beijersbergen; Lodewyk F A Wessels; René Bernards
Journal:  Cell       Date:  2012-11-21       Impact factor: 41.582

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

Authors:  Netta Mäkinen; Hanna-Riikka Heinonen; Shane Moore; Ian P M Tomlinson; Zephne M van der Spuy; Lauri A Aaltonen
Journal:  Oncotarget       Date:  2011-12
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  6 in total

Review 1.  Recent Advances in Uterine Fibroid Etiology.

Authors:  Michelle M McWilliams; Vargheese M Chennathukuzhi
Journal:  Semin Reprod Med       Date:  2017-03-09       Impact factor: 1.303

2.  Systematic Gene-to-Phenotype Arrays: A High-Throughput Technique for Molecular Phenotyping.

Authors:  Philipp A Jaeger; Lilia Ornelas; Cameron McElfresh; Lily R Wong; Randolph Y Hampton; Trey Ideker
Journal:  Mol Cell       Date:  2018-01-18       Impact factor: 17.970

Review 3.  Fibroepithelial lesions revisited: implications for diagnosis and management.

Authors:  Puay Hoon Tan
Journal:  Mod Pathol       Date:  2020-05-27       Impact factor: 7.842

4.  What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs.

Authors:  Silvia Amodeo; Giuseppe Vitrano; Melania Guardino; Giuseppe Paci; Fulvio Corselli; Vincenzo Antona; Giuseppe Barrano; Monia Magliozzi; Antonio Novelli; Renato Venezia; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2020-07-18       Impact factor: 2.638

Review 5.  The role of mediator subunit 12 in tumorigenesis and cancer therapeutics.

Authors:  Cristian G Gonzalez; Shivani Akula; Marieke Burleson
Journal:  Oncol Lett       Date:  2022-01-10       Impact factor: 2.967

6.  MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

Authors:  Luca Rocchetti; Eloisa Evangelista; Luigia De Falco; Giovanni Savarese; Pasquale Savarese; Raffaella Ruggiero; Luigi D'Amore; Alberto Sensi; Antonio Fico
Journal:  Genes (Basel)       Date:  2021-08-27       Impact factor: 4.096
  6 in total

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