نتایج جستجو برای: setx gene
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Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been shown to play a role in the response to oxidative stress. To investigate further the function of se...
Functional engagement of RNA polymerase II (Pol II) with eukaryotic chromosomes is a fundamental and highly regulated biological process. Here we present a high-resolution map of Pol II occupancy across the entire yeast genome. We compared a wild-type strain with a strain bearing a substitution in the Sen1 helicase, which is a Pol II termination factor for noncoding RNA genes. The wild-type pat...
Antiserum specific for influenza A2 neuraminidase was produced by immunization of rabbits with the purified enzyme which had been isolated by electrophoresis from the proteins of a detergent-disrupted AoA2 influenza virus recombinant [X-7 (Fl)]. This recombinant contained hemagglutinin of the Ao subtype and A2 neuraminidase. Antiserum to the isolated A2 neuraminidase did not react in any of fou...
BRCA1 is a breast and ovarian tumor suppressor. Given its numerous incompletely understood functions and the possibility that more exist, we performed complementary systematic screens in search of new BRCA1 protein-interacting partners. New BRCA1 functions and/or a better understanding of existing ones were sought. Among the new interacting proteins identified, genetic interactions were detecte...
BACKGROUND Genetic studies are challenging in many complex diseases, particularly those with limited diagnostic certainty, low prevalence or of old age. The result is that genes may be reported as disease-causing with varying levels of evidence, and in some cases, the data may be so limited as to be indistinguishable from chance findings. When there are large numbers of such genes, an objective...
Aspect-Oriented Programming (AOP) is an approach for realizing separation of concerns and allows different concerns to be weaved into existing applications. Concerns usually cross-cut the object-oriented structure. Whenever a concern needs to invoke some operations on objects of the given structure the problem arises, that those objects have different types, but the concern expects them to be h...
Given a setX of points in the plane, two distinguished points s, t ∈X, and a setΦ of obstacles represented by line segments, we wish to compute a simple polygonal path from s to t that uses only points in X as vertices and avoids the obstacles in Φ. We present two results: (1) we show that finding such simple paths among arbitrary obstacles is NP-complete, and (2) we give a polynomial-time algo...
R-loops, consisting of an RNA-DNA hybrid and displaced single-stranded DNA, are physiological structures that regulate various cellular processes occurring on chromatin. Intriguingly, changes in R-loop dynamics have also been associated with DNA damage accumulation and genome instability; however, the mechanisms underlying R-loop-induced DNA damage remain unknown. Here we demonstrate in human c...
BACKGROUND Over 100 genes have been implicated in the aetiology of amyotrophic lateral sclerosis (ALS). A detailed understanding of their independent and cumulative contributions to disease burden may help guide various clinical and research efforts. METHODS Using targeted high-throughput sequencing, we characterised the variation of 10 Mendelian and 23 low penetrance/tentative ALS genes with...
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