Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Abstract

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine… (More)
DOI: 10.1038/ng.3740

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@article{Meyer2017MutationsIT, title={Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia}, author={Esther Meyer and Keren J. Carss and Julia Rankin and John M E Nichols and Detelina Grozeva and Agnel Praveen Joseph and Niccolo E Mencacci and Apostolos Papandreou and Joanne Y W Ng and Serena Barral and Adeline Ngoh and Hilla Ben-Pazi and Mich{\`e}l A. A. P. Willemsen and David Arkadir and Angela J Barnicoat and Hagai Bergman and Sanjay Bhate and Amber Boys and Niklas Dar{\'i}n and Nicola C. Foulds and Nicholas J. Gutowski and Alison Hills and Henry Houlden and Jane A. Hurst and Zvi Israel and Margaret Kaminska and Patricia Limousin and Daniel E Lumsden and Margo Whiteford and Shibalik Misra and Shekeeb S Mohammed and Vasiliki Nakou and Joost Nicolai and Magnus Nilsson and Hardev Singh Pall and Kathryn J Peall and Gregory B. Peters and Prab Prabhakar and Miriam S Reuter and Patrick Rump and Reeval Segel and Margje Sinnema and Martin Smith and Peter D. Turnpenny and Susan M White and Dagmar Wieczorek and Sarah Wiethoff and Brian T Wilson and Gidon N Winter and Christopher Wragg and Simon Pope and Simon J H Heales and Deborah Morrogh and Alan M. Pittman and Lucinda J Carr and Bel{\'e}n P{\'e}rez-Due{\~n}as and J P Lin and Andr{\'e} Reis and William A Gahl and Camilo Gonz{\'a}lez Toro and Kailash P Bhatia and Nicholas W. Wood and Erik-Jan Kamsteeg and Wui Khean Kling Chong and Paul Gissen and Maya Topf and Russell C Dale and Jonathan R Chubb and F. Lucy Raymond and Manju A. Kurian}, journal={Nature Genetics}, year={2017}, volume={49}, pages={223-237} }