Recombinant Human Chromodomain-helicase-DNA-binding protein 7 (CHD7), partial

1. Seventeen heterozygous CHD7 Rare Sequence Variants (RSV), including 2 protein-truncating variants and 15 missense variants, were identified in 18 of the 116 CHH probands. The allele frequency of CHD7 RSVs was significantly higher in CHH probands relative to CoLaus controls (7.8%, 18/232, vs. 0.1%, 1/810; P = 1.6 x 10-11). PMID: 29144511
2. These data suggest that CHD7 drives differentiation, and there is a lower limit for CHD7 to initiate differentiation and an upper limit for CHD7 if maintained in undifferentiated state, and such upper limit varies depending on culture condition. PMID: 29321579
3. Focus on the endocrine phenotypes associated with CHD7 mutational spectrum in humans (review). PMID: 29152903
4. results suggest CHD7, through its interactions with superenhancer elements, acts as a regulatory hub in the orchestration of the spatiotemporal dynamics of transcription factors to regulate neuroepithelial and CNS lineage identities. PMID: 29440260
5. These results demonstrate the oncogenic potential of CHD7 and its association with poor prognostic parameters in human cancer. PMID: 28649742
6. CHD7 mutation is associated with small Cell Lung Cancer. PMID: 28007623
7. CHD7 is an important factor in the proliferation and stemness maintenance of neural stem/progenitor cells. PMID: 27955690
8. Data suggest protein levels of kalirin and CHD7 in circulating extracellular vesicles (EVs) as endothelial dysfunction markers to monitor vascular condition in hypertensive patients with albuminuria. PMID: 28152519
9. Data suggest that CHD6 and CHD7 both bind with high affinity to short linker DNA, whereas CHD8 requires longer DNA for binding; thus, CHD8 slides nucleosomes into positions with more flanking linker DNA than CHD7; CHD6 disrupts nucleosomes in a distinct non-sliding manner. PMID: 28533432
10. Our findings provide evidence that CHARGE and Kabuki syndromes result from dysregulatrion of CHD7 and KMT2D genes involved embryonal development that are expressed in a tissue-specific manner. PMID: 28475860
11. De novo missense variant in CHD7 identified in a family presenting with musculoskeletal abnormalities as the main manifestation of CHD7-related disease, representing a new phenotype. PMID: 26813943
12. Our zebrafish CHARGE model thus reveals important regulatory roles for Chd7 at multiple points of neural crest development viz., migration, fate choice and differentiation and we suggest that sox10 deregulation is an important driver of the neural crest-derived aspects of Chd7 dependent CHARGE syndrome. PMID: 27418670
13. This study established a new epigenetic regulation of mesenchymal stem cell (MSC) osteogenic differentiation and provided a potential target for controlling MSC osteogenesis. PMID: 27586276
14. 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. PMID: 26741373
15. We report here another sporadic case with mild CHARGE syndrome, with heart defect, 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 PMID: 26921530
16. Pathogenic CHD7 variants are associated with CHARGE syndrome. PMID: 26590800
17. 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). PMID: 26551301
18. CHD7 mutations and CHARGE syndrome (Review) PMID: 21378379
19. 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. PMID: 26411921
20. Like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery. PMID: 24705355
21. CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. PMID: 26334530
22. These data provide additional evidence that CHD7 mutations are a significant cause of semicircular canal atresia in children with full or partial CHARGE syndrome. PMID: 24979395
23. CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. PMID: 25257999
24. Functionally compromised CHD7 missense alleles contribute to the pathogenesis of both the anosmic and normosmic forms of Isolated gonadotropin-releasing hormone deficiency. PMID: 25472840
25. Two new intronic CHD7 mutations are associated with CHARGE syndrome phenotype. PMID: 23495722
26. Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1, FGFR1, GNRHR, and CHD7 PMID: 24732674
27. The objective of the study was to determine the nature, prevalence, mode of transmission, and clinical spectrum of CHD7 mutations in a large series of patients. PMID: 25077900
28. CHD7 was dysregulated, ranking above the 90th percentile in differential expression in a panel of PDAC clinical specimens, highlighting its potential as a biomarker. PMID: 24626090
29. Taken together this represents the first evidence for a CHD7 intragenic complex genomic rearrangement in a patient with CHARGE syndrome leading to what appears to be also the first report of a mutation specifically disrupting exon-7. PMID: 23956205
30. Data indicate no significant results were found for linkage analysis or tests of association between genetic variants of the CHD7 and familial idiopathic scoliosis (FIS). PMID: 23883829
31. Genes that regulate chromatin were mutated in CpG island methylator phenotype 1 colorectal carcinoma; the highest rates of mutation were observed in CHD7 and CHD8. PMID: 24211491
32. CHD7 plays an important role in cardiac development. PMID: 23677905
33. genetic association studies in population in Massachusetts: Data suggest that clinical features in Kallmann syndrome (KS) are highly associated with genetic causes: hearing loss is associated with genetic variations/mutations in CHD7. PMID: 23533228
34. There is a strong association between the CHARGE phenotype and a mutation of the CHD 7 gene on the long arm of chromosome 8. Diagnosis now can be confirmed but not excluded with a positive mutation of this gene. PMID: 23187639
35. Study identified one nonsense and two novel missense mutations in the CHD7 gene in three Korean patients with clinical features of CHARGE syndrome, one of whom had also been diagnosed with Patau syndrome. PMID: 23333604
36. Nucleosome remodeling is a key function for CHD7 during developmental processes. PMID: 23134727
37. The data shows that patients with congenital hypogonadotropic hypogonadism and a truncating CHD7 mutation can undergo reversal. PMID: 22724017
38. In patients with CHARGE syndrome,the mutations are equally distributed along the coding region of CHD7 and most are nonsense or frameshift mutations. Most mutations are unique, but 94 recurrent mutations were identified. PMID: 22461308
39. Data show that pathogenic missense mutations are mainly present in the middle of the CHD7 gene, whereas benign variants are mainly clustered in the 5' and 3' regions. PMID: 22539353
40. The results indicate that CHD7S functions cooperatively or antagonistically with CHD7L in the nucleolus and nucleoplasm, respectively. PMID: 22646239
41. De novo CHD7 mutations associated with CHARGE syndrome occur predominantly in the male germ line. PMID: 21554267
42. We identified three heterozygous CHD7 mutations in patients with Kallmann syndrome. The CHD7-positive patients were carefully reexamined and were all found to have additional features of CHARGE syndrome. PMID: 22399515
43. analysis of CHD7 mutations and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome PMID: 21931733
44. that bilateral large retinochoroidal colobomata represents a typical ophthalmic feature of CHARGE syndrome in patients with confirmed CHD7 mutations PMID: 22302456
45. in CHD7 3 novel de novo heterozygous mutations were identified:mutation in the donor splice site of intron 24, missense mutation in exon 2 and deletion in exon 11. PMID: 20943277
46. Five novel mutations - one missense (c.2936T > C), one nonsense (c.8093C > A) and three frameshift mutations (c.804_805insAT, c.1757_1770del14, c.1793delA in patients with CHARGE syndrome PMID: 20624498
47. CHD7 mutations have also been found in some patients with Kallmann syndrome, hypogonadotrophic hypogonadism, and anosmia, and we discuss the overlap between this syndrome and CHARGE syndrome. PMID: 21041284
48. This well-defined syndrome is caused by mutations in the chromodomain helicase DNA-binding (CHD7) gene, present in about 60% of CHARGE patients<< PMID: 20425471
49. CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis. PMID: 20591827
50. [review] tissue-specific effects of CHD7 deficiency, known CHD7 interacting proteins, and downstream target sites for CHD7 binding; CHD7 as a critical regulator of important developmental processes in organs affected by human CHARGE syndrome PMID: 20507341

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HGNC: 20626

OMIM: 214800

KEGG: hsa:55636

STRING: 9606.ENSP00000392028

UniGene: Hs.20395