Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
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Title
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Authors
Keywords
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Journal
NATURE GENETICS
Volume 49, Issue 2, Pages 223-237
Publisher
Springer Nature
Online
2016-12-20
DOI
10.1038/ng.3740
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Note: Only part of the references are listed.- KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation
- (2016) Siang-Yun Ang et al. DEVELOPMENT
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- (2016) Monkol Lek et al. NATURE
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- (2016) Tarjinder Singh et al. NATURE NEUROSCIENCE
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- (2015) Esther Meyer et al. Annual Review of Genomics and Human Genetics
- MAESTRO - multi agent stability prediction upon point mutations
- (2015) Josef Laimer et al. BMC BIOINFORMATICS
- Isolated and combined dystonia syndromes - an update on new genes and their phenotypes
- (2015) B. Balint et al. EUROPEAN JOURNAL OF NEUROLOGY
- Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
- (2015) William P. Bone et al. GENETICS IN MEDICINE
- Neuronal Kmt2a/Mll1 Histone Methyltransferase Is Essential for Prefrontal Synaptic Plasticity and Working Memory
- (2015) M. Jakovcevski et al. JOURNAL OF NEUROSCIENCE
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- (2015) Nadia Akawi et al. NATURE GENETICS
- Monoamine neurotransmitter disorders—clinical advances and future perspectives
- (2015) Joanne Ng et al. Nature Reviews Neurology
- The Pfam protein families database: towards a more sustainable future
- (2015) Robert D. Finn et al. NUCLEIC ACIDS RESEARCH
- H3K4me3 Breadth Is Linked to Cell Identity and Transcriptional Consistency
- (2014) Bérénice A. Benayoun et al. CELL
- H3K4me2 reliably defines transcription factor binding regions in different cells
- (2014) Ying Wang et al. GENOMICS
- Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
- (2014) Lucia Micale et al. HUMAN MUTATION
- Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development
- (2014) Gen-Bao Shao et al. IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL
- Structural and Functional Insights into the Human Börjeson-Forssman-Lehmann Syndrome-associated Protein PHF6
- (2014) Zhonghua Liu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The impact and prognosis for dystonia in childhood including dystonic cerebral palsy: a clinical and demographic tertiary cohort study
- (2014) J.-P. Lin et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach
- (2014) D. E. V. Pires et al. NUCLEIC ACIDS RESEARCH
- Regulation of histone H3K4 methylation in brain development and disease
- (2014) E. Shen et al. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- Physiological Characterisation of Human iPS-Derived Dopaminergic Neurons
- (2014) Elizabeth M. Hartfield et al. PLoS One
- Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
- (2013) Come Raczy et al. BIOINFORMATICS
- The genetics of dystonia: new twists in an old tale
- (2013) Gavin Charlesworth et al. BRAIN
- Phenomenology and classification of dystonia: A consensus update
- (2013) Alberto Albanese et al. MOVEMENT DISORDERS
- De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
- (2012) Wendy D. Jones et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
- (2012) Tjitske Kleefstra et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study
- (2012) RUSSELL C DALE et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
- (2012) William A. Gahl et al. GENETICS IN MEDICINE
- Analysis of DNA sequence variants detected by high-throughput sequencing
- (2012) David R. Adams et al. HUMAN MUTATION
- Histone Lysine Methylation Dynamics: Establishment, Regulation, and Biological Impact
- (2012) Joshua C. Black et al. MOLECULAR CELL
- Fiji: an open-source platform for biological-image analysis
- (2012) Johannes Schindelin et al. NATURE METHODS
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Primer3—new capabilities and interfaces
- (2012) Andreas Untergasser et al. NUCLEIC ACIDS RESEARCH
- Generation of Regionally Specified Neural Progenitors and Functional Neurons from Human Embryonic Stem Cells under Defined Conditions
- (2012) Agnete Kirkeby et al. Cell Reports
- Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation
- (2011) M.C. Kruer et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies
- (2011) Daniah Trabzuni et al. JOURNAL OF NEUROCHEMISTRY
- The heterodimerization domains of MLL—FYRN and FYRC—are potential target structures in t(4;11) leukemia
- (2011) B Pless et al. LEUKEMIA
- Handpicking epigenetic marks with PHD fingers
- (2011) C. A. Musselman et al. NUCLEIC ACIDS RESEARCH
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- Methylation of H3K4 Is Required for Inheritance of Active Transcriptional States
- (2010) Tetsuya Muramoto et al. CURRENT BIOLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Evaluation of Allelic Expression of Imprinted Genes in Adult Human Blood
- (2010) Jennifer M. Frost et al. PLoS One
- Histone H3K27ac separates active from poised enhancers and predicts developmental state
- (2010) M. P. Creyghton et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation
- (2009) V Malan et al. JOURNAL OF MEDICAL GENETICS
- Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome
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- (2008) Ji-Joon Song et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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