De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Author:

Calpena Eduardo,Hervieu Alexia,Kaserer Teresa,Swagemakers Sigrid M.A.,Goos Jacqueline A.C.,Popoola Olajumoke,Ortiz-Ruiz Maria Jesus,Barbaro-Dieber Tina,Bownass Lucy,Brilstra Eva H.,Brimble Elise,Foulds Nicola,Grebe Theresa A.,Harder Aster V.E.,Lees Melissa M.,Monaghan Kristin G.,Newbury-Ecob Ruth A.,Ong Kai-Ren,Osio Deborah,Reynoso Santos Francis Jeshira,Ruzhnikov Maura R.Z.,Telegrafi Aida,van Binsbergen Ellen,van Dooren Marieke F.,van der Spek Peter J.,Blagg Julian,Twigg Stephen R.F.,Mathijssen Irene M.J.,Clarke Paul A.,Wilkie Andrew O.M.

Funder

Health Innovation Challenge Fund

Wellcome

Department of Health

Wellcome Sanger Institute

National Institute for Health Research

Comprehensive Clinical Research Network

Wellcome Trust

Cancer Research UK Accelerator Award

Cancer Research UK

Institute of Cancer Research

Merck

NIHR

Oxford Biomedical Research Centre Programme

Wellcome Investigator Award

Department of Health

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference57 articles.

1. The complex structure and function of Mediator;Harper;J. Biol. Chem.,2018

2. The Mediator complex: At the nexus of DNA polymerase II transcription;Jeronimo;Trends Cell Biol.,2017

3. A structural perspective on Mediator function;Larivière;Curr. Opin. Cell Biol.,2012

4. Identification of mediator kinase substrates in human cells using Cortistatin A and quantitative phosphoproteomics;Poss;Cell Rep.,2016

5. Mediator kinase module and human tumorigenesis;Clark;Crit. Rev. Biochem. Mol. Biol.,2015

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