Chromodomain proteins in development: lessons from CHARGE syndrome
نویسندگان
چکیده
منابع مشابه
Chromodomain proteins in development: lessons from CHARGE syndrome.
In humans, heterozygous mutations in the adenosine triphosphate-dependent chromatin remodeling gene CHD7 cause CHARGE syndrome, a common cause of deaf-blindness, balance disorders, congenital heart malformations, and olfactory dysfunction with an estimated incidence of approximately 1 in 10,000 newborns. The clinical features of CHARGE in humans and mice are highly variable and incompletely pen...
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There are many ways to select mutations that increase the stability of proteins, including rational design, functional screening of randomly generated mutant libraries, and comparison of naturally occurring homologous proteins. The protein engineer’s toolbox is expanding and the number of successful examples of engineered protein stability is increasing. Still, the selection of thermostable mut...
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BACKGROUND AND PURPOSE The causative gene of the common congenital malformation referred to as CHARGE syndrome is CHD7. Affected individuals often undergo head and neck imaging to assess abnormalities of the olfactory structures, hypothalamus-pituitary axis, and inner ear. We encountered a few children with severe hypoplasia of the basiocciput during a radiologic assessment of patients with CHA...
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Studies that compare proteins from thermophilic and mesophilic organisms can provide insights into ability of thermophiles to function at their high habitat temperatures and may provide clues that enable us to better define the forces that stabilize all proteins. Most of the comparative studies have focused on thermal stability and show, as expected, that thermophilic proteins have higher Tm va...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2010
ISSN: 0009-9163,1399-0004
DOI: 10.1111/j.1399-0004.2010.01446.x