‘Gain of function’ PRSS1 mutations are rare in ICP
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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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translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولMutations in PRSS1 Put into Perspective
I have read with interest the recent paper by Liu and Zhang [1] on the putative association of the PRSS1 gene with pancreatitis. In their article, the authors claim a highly significant association based on a meta-analysis of seven previous case-control studies. Their methodological approach, however, warrants a cautionary comment. To assess the impact of PRSS1 mutations, the authors have conce...
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Hemolytic uremic syndrome (HUS) is an important cause of acute renal failure in children. Mutations in one or more genes encoding complement-regulatory proteins have been reported in approximately one-third of nondiarrheal, atypical HUS (aHUS) patients, suggesting a defect in the protection of cell surfaces against complement activation in susceptible individuals. Here, we identified a subgroup...
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Directed protein evolution, which employs a combination of random mutagenesis, phage display, and in vitro selection, was used to identify second-site suppressors of the fibronectin (Fn) cell binding domain mutation Asp1495Ala (RGA). The mutations in the Fn 9th (3fn9) and 10th (3fn10) type III repeats obtained after selection on purified integrins alphaIIbbeta3(D119Y) and alpha5beta1 are report...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2003
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200945