Congenital bilateral aplasia of the vas deferens (CBAVD) was suggested to be a mild form of cystic fibrosis (CF). Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) ...gene in males with CBAVD revealed that in some males CBAVD is caused by two defective CFTR alleles. The genetic basis of CBAVD in the other males and its association with CF remained unclear. We undertook this study to test the hypothesis of commonality of CBAVD and CF by haplotype analysis, in the CFTR locus, of males suffering from CBAVD and of their families. According to the hypothesis of commonality of CBAVD and CF, two brothers with CBAVD are expected to carry the same two CFTR alleles, while their fertile brothers are expected to carry at least one different allele. Eleven families were studied, of which two families, with unidentified CFTR mutations, did not support this hypothesis. In these families two brothers with CBAVD inherited different CFTR alleles. Their fertile brothers inherited the same CFTR alleles as their brothers with CBAVD. These results provide evidence for genetic heterogeneity in CBAVD. Though in some families CBAVD is associated with two CFTR mutations, we suggest that in others it is caused by other mechanisms, such as mutations at other loci or homozygosity or heterozygosity for partially penetrant CFTR mutations.
Hybrid Clustered Peer-Assisted DASH-SVC System Dubin, Ran; Hadar, Ofer; Freifeld, Yariv ...
2015 IEEE International Conference on Computer and Information Technology; Ubiquitous Computing and Communications; Dependable, Autonomic and Secure Computing; Pervasive Intelligence and Computing,
2015-Oct.
Conference Proceeding
Dynamic Adaptive Streaming over HTTP (DASH) standard was designed to improve quality of experience (QoE) by enabling video distribution at different quality levels according to the clients' network ...conditions. Moreover, DASH is compatible with the H.264 Scalable Video Coding (SVC) technology. In Content Delivery Networks (CDNs)-P2P hybrid approach, users can fetch contents from the CDN edge network, the P2P network, or from both networks. In this paper, we present a Hybrid CDN-P2P-SVC-DASH system, mainly to improve user quality of experience. Our system is based on clustering the peers to improve the user download time. The simulation results show that the clusters improve the QoE, reduce the start-time and reduce the load on the tracker. We also found that relatively small clusters can achieve most of the potential benefits engrained in the CDN-P2P hybrid approach.
We propose novel model transfer-learning methods that refine a decision forest model M learned within a "source" domain using a training set sampled from a "target" domain, assumed to be a variation ...of the source. We present two random forest transfer algorithms. The first algorithm searches greedily for locally optimal modifications of each tree structure by trying to locally expand or reduce the tree around individual nodes. The second algorithm does not modify structure, but only the parameter (thresholds) associated with decision nodes. We also propose to combine both methods by considering an ensemble that contains the union of the two forests. The proposed methods exhibit impressive experimental results over a range of problems.
Serumske paraoksonaze (PONs) imaju široki raspon fiziološki važnih hidrolitičkih aktivnosti uključujući metabolizam lijekova i detoksikaciju nervnih plinova. PON1 i PON3 smještene su na ...lipoproteinima visoke gustoće (engl. high-density lipoprotein; HDL - “dobri kolesterol”) i uključene su u ublažavanje ateroskleroze. Članovi skupine PON identificirani su ne samo u sisavaca i drugih kralježnjaka već i kod beskralješnjaka. Prije smo opisali prvu kristalnu strukturu člana PON skupine, direktno razrađenu varijantu PON1 pri rezoluciji 2,2 Å. PON1 je beta-propeler sa šest lopatica s jedinstvenim poklopcem aktivnog mjesta, koji je tako|er uključen u vezanje na HDL. 3-D struktura, gledana zajedno s direktnim razvojnim istraživanjima, omogućila je analizu mutacija koje povećavaju stabilnost, topljivost i kristalizaciju te PON1 varijante. Struktura dopušta detaljan opis aktivnog mjesta PON1 i sugerira moguće mehanizme za njezinu katalitičku aktivnost prema odre|enim supstratima.
PDF
