Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
By L. Vissers, C. V. Ravenswaaij, R. Admiraal, J. Hurst, B. Vries, I. Janssen, W. V. D. Vliet, Erik Huys, P. Jong, B. Hamel and 4 more. Nature Genetics, 2004
1,212 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology, Pulmonary and Respiratory Medicine
View Paper: https://www.semanticscholar.org/paper/3f3b9fdd4be3c8de3736be6a90fd6b7b76583538
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In Genetics
In Molecular Biology
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Citations in the corpus
- ATP-dependent chromatin remodeling during mammalian development (2016, background): “…Vestin and Mills, 2013) and sperm development (Li et al., 2014) CHD7 CHD7 Involved in charge syndrome (Bajpai et al., 2010; Janssen et al., 2012; Vissers et al., 2004), neurogenesis (Hurd et al., 2010), adult brain development (Jones et al., 2015), cardiac development (Payne et al., 2015), and…”
- Identification of multiple distinct Snf2 subfamilies with conserved structural motifs (2006, background): “CHARGE syndrome which is a common cause of congenital abnormalities (124) with most linked mutations resulting in major”
- Chromatin remodelling during development (2010, neutral): “Mutations in CHD7 result in CHARGE syndrome in humans (which is characterized by coloboma of the eyes, heart defects, choanal atresia, severe retardation of growth and development, and genital and ear abnormalities”
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. (2009, background): “39 DECIPHER is designed specifically to bring together genomic and phenotypic data about submicroscopic chromosome aberrations and other rear-rangements and display them openly in the Ensembl genome browser.”
- The biology of chromatin remodeling complexes. (2009, background): “CHARGE syndrome, an autosomal dominant disorder, has been linked recently to haploinsufficiency of CHD7, which encodes the CHD family ATPase CHD7 (179).”