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CHD7 gene

Known as: CHD7, chromodomain helicase DNA binding protein 7, KIAA1416 
This gene may play a role in the modulation of both chromatin structure modification and transcription.
National Institutes of Health

Related topics

Related topics

9 relations
CHD7 wt AlleleChromodomain Helicase-DNA-Binding Protein 7DNA RepairDNA Replication

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
BackgroundCHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the… 
2017
2017
Genotranscriptomic meta‐analysis of the CHD family chromatin remodelers in human cancers – initial evidence of an oncogenic role for CHD7
Chromodomain helicase DNA binding proteins (CHDs) are characterized by N‐terminal tandem chromodomains and a central adenosine… 
2014
2014
Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms… 
2013
2013
Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome
CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae… 
2012
2012
Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full‐length CHD7L
CHD7 is one of the nine members of the chromodomain helicase DNA‐binding family of ATP‐dependent chromatin remodeling enzymes… 
2012
2012
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
2011
2011
SOX2 and CHD7 cooperatively regulate human disease genes
A new study reveals that the HMG-box transcription factor SOX2 coupled with the chromatin remodeling helicase CHD7 cooperatively… 
2009
2009
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.
2007
2007
An Alu retrotransposition‐mediated deletion of CHD7 in a patient with CHARGE syndrome
CHD7 mutations account for about 60–65% among more than 200 CHARGE syndrome cases. When rare whole gene deletion cases associated… 
2006
2006
Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.
Mutations in the CHD7 (chromodomain helicase DNA binding protein 7) gene cause CHARGE syndrome. At present, however, genetic… 
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