Literature DB >> 17334363

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

Hiba Risheg1, 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.   

Abstract

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17334363     DOI： 10.1038/ng1992

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  85 in total

1.  2011 William Allan Award introduction: John M. Opitz.

Authors:  Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

2.  Cyclin-dependent kinase 8 regulates mitotic commitment in fission yeast.

Authors:  Zsolt Szilagyi; Gabor Banyai; Marcela Davila Lopez; Christopher J McInerny; Claes M Gustafsson
Journal:  Mol Cell Biol       Date:  2012-03-26       Impact factor: 4.272

3.  Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Authors:  Tjitske Kleefstra; Jamie M Kramer; Kornelia Neveling; Marjolein H Willemsen; Tom S Koemans; Lisenka E L M Vissers; Willemijn Wissink-Lindhout; Michaela Fenckova; Willem M R van den Akker; Nael Nadif Kasri; Willy M Nillesen; Trine Prescott; Robin D Clark; Koenraad Devriendt; Jeroen van Reeuwijk; Arjan P M de Brouwer; Christian Gilissen; Huiqing Zhou; Han G Brunner; Joris A Veltman; Annette Schenck; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2012-06-21       Impact factor: 11.025

4.  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

5.  Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.

Authors:  Ning Ding; Haiying Zhou; Pierre-Olivier Esteve; Hang Gyeong Chin; Seokjoong Kim; Xuan Xu; Sumy M Joseph; Michael J Friez; Charles E Schwartz; Sriharsa Pradhan; Thomas G Boyer
Journal:  Mol Cell       Date:  2008-08-08       Impact factor: 17.970

Review 6.  MED12 mutations in human diseases.

Authors:  Hua Wang; Qin Shen; Li-Hua Ye; Jun Ye
Journal:  Protein Cell       Date:  2013-09       Impact factor: 14.870

Review 7.  MED12 related disorders.

Authors:  John M Graham; Charles E Schwartz
Journal:  Am J Med Genet A       Date:  2013-10-10       Impact factor: 2.802

8.  Cyclin-dependent kinase 8 module expression profiling reveals requirement of mediator subunits 12 and 13 for transcription of Serpent-dependent innate immunity genes in Drosophila.

Authors:  Emilia Kuuluvainen; Heini Hakala; Essi Havula; Michelle Sahal Estimé; Mika Rämet; Ville Hietakangas; Tomi P Mäkelä
Journal:  J Biol Chem       Date:  2014-04-28       Impact factor: 5.157

9.  MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.

Authors:  Haiying Zhou; Jason M Spaeth; Nam Hee Kim; Xuan Xu; Michael J Friez; Charles E Schwartz; Thomas G Boyer
Journal:  Proc Natl Acad Sci U S A       Date:  2012-10-22       Impact factor: 11.205

Review 10.  Transcriptional regulation and its misregulation in disease.

Authors:  Tong Ihn Lee; Richard A Young
Journal:  Cell       Date:  2013-03-14       Impact factor: 41.582
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.