نتایج جستجو برای: nonsense

تعداد نتایج: 8194  

2014
Rita Guerreiro José Brás Aleksandra Wojtas Rosa Rademakers John Hardy Neill Graff-Radford

Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs80356711) associated with homozygosity for the V allele at position 129 of the protein, further highlig...

Journal: :Journal of molecular biology 1971
C A Michels W S Reznikoff

The polarity gradient of a series of nonsense mutations in the z gene of the luc operon has been determined in tr;D-lax fusion strains. The results described in this paper suggest that the general nature of the polarity gradient generated by nonsense mutations in a given cistron is a function of their location within this cistron and is not determined by the position of the cistron within the o...

Journal: :Genetics 1981
J A Kinsey B S Hung

Forty-eight new mutations at the am locus of Neurospora crassa have been characterized. Nineteen mutations were induced by UV; of these, eight were missense, two were frameshifts, two were nonsense, three were deletions and four were unidentified. Twenty-nine mutations were induced with nitrous acid; of these, twenty-one were missense, three were frameshifts, one was nonsense, two were deletion...

2001
Susan Fitt

This paper focuses on the creation of word-lists for making diphone recordings for speech synthesis. Such lists often consist of nonsense words, which has the advantage that the phonetic environment can be constrained, and it is easy to produce lists containing all possible combinations. However, this approach has the disadvantage that non-experts may find it difficult to read the nonsense-word...

2017
Fabrice Lejeune

Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism ensuring the fast decay of mRNAs harboring a premature termination codon (PTC). As a quality control mechanism, NMD distinguishes PTCs from normal termination codons in order to degrade PTC-carrying mRNAs only. For this, NMD is connected to various other cell processes which regulate or activate it under specific cell conditions or ...

Journal: :Current Opinion in Genetics & Development 2018

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