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Article

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Human genetics - 1 Aug 2014

Schulz Yvonne, Wehner Peter, Opitz Lennart, Salinas-Riester Gabriela, Bongers Ernie M H F, van Ravenswaaij-Arts Conny M A, Wincent Josephine, Schoumans Jacqueline, Kohlhase Jürgen, Borchers Annette, Pauli Silke

Abstract excerpt

Heterozygous loss of function mutations in CHD7 (chromodomain helicase DNA-binding protein 7) lead to CHARGE syndrome, a complex developmental disorder affecting craniofacial structures, cranial nerves and several organ systems. Recently, it was demonstrated that CHD7 is essential for the formation of multipotent migratory neural crest cells, which migrate from the neural tube to many regions of the embryo, where...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24728844
DOI: 10.1007/s00439-014-1444-2

Genes

CHD7

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Related research

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.PMID 24728844Read ↗

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Chromodomain proteins in development: lessons from CHARGE syndromeSemantic proximity Read ↗

Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factorsSemantic proximity Read ↗

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Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.Semantic proximity Read ↗

Role of Chd7 in Zebrafish: A Model for CHARGE SyndromeSemantic proximity Read ↗

Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypesSemantic proximity Read ↗

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal developmentSemantic proximity Read ↗

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.Semantic proximity Read ↗

CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expressionSemantic proximity Read ↗

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