Chromodomain-helicase-DNA-binding protein 7
The CHD7 gene encodes a DNA-binding protein which contains helicase domains. It is not certain though that it acts like a helicase. Mutations are found in autosomal dominant disorders such as CHARGE syndrome and Congenital hypogonadotropic hypogonadism with anosmia 5.
Genetests:
Related Diseases:
References:
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Vissers LE et al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
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Schulz Y et al. (2014) CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
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Tilley MK et al. (2013) CHD7 gene polymorphisms and familial idiopathic scoliosis.
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Engelen E et al. (2011) Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
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Melicharek DJ et al. (2010) Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome.
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Zentner GE et al. (2010) CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.
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Batsukh T et al. (2010) CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
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8. |
Pleasance ED et al. (2010) A small-cell lung cancer genome with complex signatures of tobacco exposure.
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9. |
Gao X et al. (2007) CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.
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Félix TM et al. (2006) CHD7 gene and non-syndromic cleft lip and palate.
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11. |
Van Nostrand JL et al. (2014) Inappropriate p53 activation during development induces features of CHARGE syndrome.
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Pauli S et al. (2012) CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
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13. |
Bajpai R et al. (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation.
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14. |
Vuorela PE et al. (2008) A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.
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15. |
Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
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16. |
Jongmans MC et al. (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
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Sanlaville D et al. (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
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18. |
Bosman EA et al. (2005) Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
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Lalani SR et al. (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
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Udaka T et al. (2007) An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome.
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Delahaye A et al. (2007) Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
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22. |
Van de Laar I et al. (2007) Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.
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23. |
Jongmans MC et al. (2008) Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
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24. |
Bergman JE et al. () Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
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25. |
Kim HG et al. (2008) Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
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26. |
Layman WS et al. (2009) Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
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27. |
Orphanet article
Orphanet ID 119389
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NCBI article
NCBI 55636
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OMIM.ORG article
Omim 608892
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30. |
Wikipedia article
Wikipedia EN (CHD7)
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Update: Aug. 14, 2020