The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-08-07
DOI
10.1038/s41436-019-0612-0
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms
- (2018) L. Larizza et al. CLINICAL GENETICS
- CHD4 and the NuRD complex directly control cardiac sarcomere formation
- (2018) Caralynn M. Wilczewski et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Tumour-associated missense mutations in the dMi-2 ATPase alters nucleosome remodelling properties in a mutation-specific manner
- (2018) Kristina Kovač et al. Nature Communications
- Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
- (2018) Nina Bögershausen et al. Frontiers in Molecular Neuroscience
- Identifying facial phenotypes of genetic disorders using deep learning
- (2018) Yaron Gurovich et al. NATURE MEDICINE
- CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- (2018) Lot Snijders Blok et al. Nature Communications
- Mechanism of chromatin remodelling revealed by the Snf2-nucleosome structure
- (2017) Xiaoyu Liu et al. NATURE
- Mechanisms of action and regulation of ATP-dependent chromatin-remodelling complexes
- (2017) Cedric R. Clapier et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers
- (2017) H. Courtney Hodges et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- CHD3 and CHD4 form distinct NuRD complexes with different yet overlapping functionality
- (2017) Helen Hoffmeister et al. NUCLEIC ACIDS RESEARCH
- Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers
- (2017) H. Courtney Hodges et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
- (2016) Karin Weiss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
- (2016) Alejandro Sifrim et al. NATURE GENETICS
- A Functional Switch of NuRD Chromatin Remodeling Complex Subunits Regulates Mouse Cortical Development
- (2016) Justyna Nitarska et al. Cell Reports
- The Mendelian disorders of the epigenetic machinery
- (2015) Hans Tomas Bjornsson GENOME RESEARCH
- The N-terminal Region of Chromodomain Helicase DNA-binding Protein 4 (CHD4) Is Essential for Activity and Contains a High Mobility Group (HMG) Box-like-domain That Can Bind Poly(ADP-ribose)
- (2015) Ana P. G. Silva et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The I-TASSER Suite: protein structure and function prediction
- (2015) Jianyi Yang et al. NATURE METHODS
- The nucleosome remodeling and deacetylase complex in development and disease
- (2015) Jeannine Basta et al. Translational Research
- SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis
- (2014) Martin Hasselblatt et al. ACTA NEUROPATHOLOGICA
- A method for evaluating nucleosome stability with a protein-binding fluorescent dye
- (2014) Hiroyuki Taguchi et al. METHODS
- Promoter Decommissioning by the NuRD Chromatin Remodeling Complex Triggers Synaptic Connectivity in the Mammalian Brain
- (2014) Tomoko Yamada et al. NEURON
- SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information
- (2014) Marco Biasini et al. NUCLEIC ACIDS RESEARCH
- The chromodomain helicase Chd4 is required for Polycomb-mediated inhibition of astroglial differentiation
- (2013) Anke Sparmann et al. EMBO JOURNAL
- Chd4 and associated proteins function as corepressors of Sox9 expression during BMP-2-induced chondrogenesis
- (2013) Fenyong Sun et al. JOURNAL OF BONE AND MINERAL RESEARCH
- The NuRD Chromatin-Remodeling Enzyme CHD4 Promotes Embryonic Vascular Integrity by Transcriptionally Regulating Extracellular Matrix Proteolysis
- (2013) Kyle G. Ingram et al. PLoS Genetics
- Mi-2/NuRD is required in renal progenitor cells during embryonic kidney development
- (2012) D.R. Denner et al. DEVELOPMENTAL BIOLOGY
- Concerted action of the PHD, chromo and motor domains regulates the human chromatin remodelling ATPase CHD4
- (2012) Rosa Morra et al. FEBS LETTERS
- The PHD and Chromo Domains Regulate the ATPase Activity of the Human Chromatin Remodeler CHD4
- (2012) Aleksandra A. Watson et al. JOURNAL OF MOLECULAR BIOLOGY
- ATP-dependent chromatin remodeling: genetics, genomics and mechanisms
- (2011) Diana C Hargreaves et al. CELL RESEARCH
- Plant Homeodomain (PHD) Fingers of CHD4 Are Histone H3-binding Modules with Preference for Unmodified H3K4 and Methylated H3K9
- (2011) Robyn E. Mansfield et al. JOURNAL OF BIOLOGICAL CHEMISTRY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationPublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More