Gain-of-function mutations and immunodeficiency
نویسندگان
چکیده
منابع مشابه
Drosophila Lyra mutations are gain-of-function mutations of senseless.
The Lyra mutation was first described by Jerry Coyne in 1935. Lyra causes recessive pupal lethality and adult heterozygous Lyra mutants exhibit a dominant loss of the anterior and posterior wing margins. Unlike many mutations that cause loss of wing tissue (e.g., scalloped, Beadex, cut, and apterous-Xasta), Lyra wing discs do not exhibit increased necrotic or apoptotic cell death, nor do they s...
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OBJECTIVE Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no systematic genetic studies have been performed in patients with idiopathic SFN (I-SFN). We sought to identify a genetic basis for I-SFN by screening patients with biopsy-confirmed idiopathic SFN for mutations in the SCN9A gene, encoding voltage-gated sodium channel Na(V)1.7, which is preferentially expresse...
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ژورنال
عنوان ژورنال: Current Opinion in Allergy & Clinical Immunology
سال: 2015
ISSN: 1528-4050
DOI: 10.1097/aci.0000000000000217