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CHD7 encodes a protein that contains several helicase family domains. Additionally we are shipping Chromodomain Helicase DNA Binding Protein 7 Kits (3) and many more products for this protein.
Showing 10 out of 27 products:
Human Polyclonal CHD7 Primary Antibody for EIA, IF - ABIN1450043
Cavalli, Paro: Chromo-domain proteins: linking chromatin structure to epigenetic regulation. in Current opinion in cell biology 1998
Show all 4 references for ABIN1450043
Human Polyclonal CHD7 Primary Antibody for ELISA, WB - ABIN238550
Gao, Gordon, Zhang, Browne, Helms, Gillum, Weber, Devroy, Swaney, Dobbs, Morcuende, Sheffield, Lovett, Bowcock, Herring, Wise: CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. in American journal of human genetics 2007
evolutionarily conserved role for CHD7 in orchestrating neural crest gene expression programs
knockdown of the jumonji (show JARID2 Antibodies) domain-containing histone demethylase (show MBD2 Antibodies) fbxl10 (show KDM2B Antibodies)/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 (show SH2B1 Antibodies)), and results in the loss of asymmetric expression of spaw in the lateral plate mesoderm, which is consistent with more general laterality defects.
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 Antibodies), CHD7 interacts with members of the WAR complex, namely WDR5 (show WDR5 Antibodies), ASH2L (show ASH2L Antibodies) and RbBP5 (show RBBP5 Antibodies). We therefore propose that CHD7 and KMT2D (show MLL2 Antibodies) 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.
Functionally compromised CHD7 missense alleles contribute to the pathogenesis of both the anosmic and normosmic forms of Isolated gonadotropin-releasing hormone deficiency.
Two new intronic CHD7 mutations are associated with CHARGE syndrome phenotype.
Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1 (show KAL1 Antibodies), FGFR1 (show FGFR1 Antibodies), GNRHR (show GNRHR Antibodies), and CHD7
Chd7 (show CHD3 Antibodies) mutant mice are models for determining the molecular etiology of ocular defects in CHARGE syndrome.
This work reveals the importance of CHD7 (show CHD3 Antibodies) in the cardiogenic mesoderm for multiple processes during cardiovascular development.
Findings directly link CHD7 (show CHD3 Antibodies) to pathways involved in NSC quiescence and identify the first chromatin-remodeling factor (show ASH1L Antibodies) with a role in NSC quiescence and maintenance.
Conditional deletion of Chd7 (show CHD3 Antibodies) in ectodermal and endodermal derivatives or migrating neural crest cells results in varied and severe craniofacial defects.
CHD7 (show CHD3 Antibodies) gene mutation is associated with CHARGE syndrome.
Findings demonstrate critical, cooperative roles for Retinoic Acid (RA) and CHD7 (show CHD3 Antibodies) 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 Antibodies) deficiency.
Chd7 (show CHD3 Antibodies) may have critical selector gene functions during inner ear morphogenesis.
CHD7 (show CHD3 Antibodies) may directly regulate Bmp4 (show BMP4 Antibodies) expression by binding with an enhancer element downstream of the Bmp4 (show BMP4 Antibodies) locus.
Chd7 (show CHD3 Antibodies)(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 Antibodies) 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