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evolutionarily conserved role for CHD7 in orchestrating neural crest gene expression programs
knockdown of the jumonji (show JARID2 ELISA Kits) domain-containing histone demethylase (show MBD2 ELISA Kits) fbxl10 (show KDM2B ELISA Kits)/kdm2bb, a repressor of ribosomal RNA genes, rescues cell proliferation and cartilage defects in chd7 morphant embryos and can lead to complete rescue of the CHARGE syndrome phenotype.
Chd7 is required for the organization of the neural retina in zebrafish.
Data show that Chd7 deficiency leads to asymmetric segmentation of the presomitic mesoderm (PSM), and results in the loss of asymmetric expression of spaw in the lateral plate mesoderm, which is consistent with more general laterality defects.
the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the geno-phenotype of CHARGE syndrome.
We report here another sporadic case with mild CHARGE syndrome, with heart defect (show Vcan ELISA Kits), sensorineural deafness and hypoplastic semi-circular canals. It should be emphasized that patients should not be rejected for CHD7 analysis if they do not fulfill criteria for atypical or typical CHARGE as there is a high intra- and inter-familial variability
Pathogenic CHD7 variants are associated with CHARGE syndrome.
Two mutations of CHD7 were identified including a novel splice-site mutation (c.2443-2A>G) and a previously known frameshift mutation (c.2504_2508delATCTT).
CHD7 mutations and CHARGE syndrome (Review)
Here, we review recent work aimed at understanding the mechanism of CHD7 function in normal and pathological states, highlighting results from biochemical and in vivo studies.
Like KMT2D (show MLL2 ELISA Kits), CHD7 interacts with members of the WAR complex, namely WDR5 (show WDR5 ELISA Kits), ASH2L and RbBP5 (show RBBP5 ELISA Kits). We therefore propose that CHD7 and KMT2D (show MLL2 ELISA Kits) function in the same chromatin modification machinery.
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
These data provide additional evidence that CHD7 mutations are a significant cause of semicircular canal atresia in children with full or partial CHARGE syndrome.
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.
Chd7 (show CHD3 ELISA Kits) mutant mice are models for determining the molecular etiology of ocular defects in CHARGE syndrome.
This work reveals the importance of CHD7 (show CHD3 ELISA Kits) in the cardiogenic mesoderm for multiple processes during cardiovascular development.
Findings directly link CHD7 (show CHD3 ELISA Kits) to pathways involved in NSC quiescence and identify the first chromatin-remodeling factor (show ASH1L ELISA Kits) with a role in NSC quiescence and maintenance.
Conditional deletion of Chd7 (show CHD3 ELISA Kits) in ectodermal and endodermal derivatives or migrating neural crest cells results in varied and severe craniofacial defects.
CHD7 (show CHD3 ELISA Kits) gene mutation is associated with CHARGE syndrome.
Findings demonstrate critical, cooperative roles for Retinoic Acid (RA) and CHD7 (show CHD3 ELISA Kits) in subventricular zone neural stem cell function and inner ear development, suggesting that altered RA signaling may be an effective method for treating Chd7 (show CHD3 ELISA Kits) deficiency.
Chd7 (show CHD3 ELISA Kits) may have critical selector gene functions during inner ear morphogenesis.
CHD7 (show CHD3 ELISA Kits) may directly regulate Bmp4 (show BMP4 ELISA Kits) expression by binding with an enhancer element downstream of the Bmp4 (show BMP4 ELISA Kits) locus.
Chd7 (show CHD3 ELISA Kits)(Gt)(/+) mouse model of CHARGE syndrome demonstrates combined conductive and sensorineural hearing loss, correlating with changes in both middle and inner ears.
characterize gene regulation by Sox2 (show SOX2 ELISA Kits) in neural stem cells. We
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome.
chromodomain helicase DNA binding protein 7
, chromodomain-helicase-DNA-binding protein 7-like
, ATP-dependent helicase CHD7
, chromodomain helicase DNA binding protein 7 isoform CRA_e
, chromodomain-helicase-DNA-binding protein 7
, chromodomain helicase DNA-binding protein 7