The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis.     

Advancements of Nano-Hydroxyapatite in Sports Medicine from Bone Injury Perspectives

Nanotechnology has revolutionized the field of biology and medicine in the 21st century.Bone injury incidences during sports activities are common,and they are ...     

A Threshold Scheme under Peer-to-Peer Network

Resource sharing among peers is one of important application in Peer-to-Peer（P2P） network. Inexistenee of server makes P2P network to be a less trustable tool for property owners to distribute their resource. In order to protect intelligent property, reputation management strategy is adopted in many P2P network. As long as a P2P network reputation strategy is confirmed, application designer can employ a special detailed distribution scheme to fulfill content distribution within the net. Shmir （k, n） threshold scheme, for example, is an encryption scheme to enhance the distribution se curity of this kind of design. （k＊, n） threshold scheme is a new tool similar to Shmir scheme is proposed in this paper. The new scheme based on polynomial expansion and its security is decided by the one way function used in the secret distribution procedure. The scheme efficiency and its features as well as comparison between new and Shmir scheme are also discussed in this paper.     

Effects of drug-polymer dispersions on solubility and <Emphasis Type=Italic>in vitro</Emphasis> diffusion of artemisinin across a polydimethylsiloxane membrane

Artemisinin(ART) is a sesquiterpene lactone with an endo-peroxide bridge that is thought to be responsible for its antimalarial activity.It has low oral bioavailability because of aqueous insolubility,which leads to local toxicity at the site of aggregation.The present work focused on increasing its solubility and evaluating its permeation across a model membrane to mimic transdermal delivery that bypasses the hepatic metabolism.For this purpose,physical mixtures(PM),solid dispersions(SD) and lyophilized dispersions(LD) with different drug-polymer ratios(1:0.5,1:1,1:2,1:4 and 1:9) were prepared using the hydrophilic polymer polyvinylpyrrolidone(PVP).Drug-polymer dispersions were characterized using X-ray diffraction(XRD) and Fourier transform infrared spectroscopy(FTIR).Solubility was measured in three solvents:de-ionized water,phosphate buffered saline(PBS) and methanol.The toluene-water partition coefficient was evaluated and compared with the literature and calculated logP values.In vitro diffusion of ART was studied across a polydimethylsiloxane membrane from a saturated solution of drug-polymer dispersions.XRD patterns showed a gradual decrease in crystallinity of ART with increasing polymer concentration,while FTIR confirmed no interactions between ART and PVP.Solubility was increased up to 4-,5-and 8-fold for LD in water,PBS and methanol,respectively.The logP for toluene-water was 2.65 ± 0.3,which is in good agreement with literature and calculated logP values.Permeation was enhanced,which is attributed to the decrease in crystallinity and increase in wettability of the drug.The ART flux was significantly higher than that of pure ART(0.12 ± 0.01) with increasing PVP concentration for SD and LD formulations.In conclusion,drug-polymer dispersions with PVP improve the pharmaceutical properties of ART in the order LD>SD>PM.     

A Buffer Management Scheme for Packet Queues in MANET

We introduce a new scheme of buffer management to handle packet queues in Mobile Ad hoc Networks （MANETs） for fixed and mobile nodes. In this scheme, we try to achieve efficient queuing in the buffer of a centrally communicating MANET node through an active queue management strategy by assigning dynamic buffer space to all neighboring nodes in proportion to the number of packets received from neighbors and hence controlling packet drop probabilities. Our simulation study reveals that the proposed scheme is a way to improve the buffer management for packet queues in MANET nodes in terms of packet loss ratio, transmission efficiency, and some other important system parameters.     

Multi-Seed Key Distribution Scheme Test

The key problem of securing multieast is to generate, distribute and update Session Encryption Key（SEK）. Polynomial expansion with multi-seed （MPE） scheme is an approach which is based on Polynomial expansion （PE） scheme and overcomes PE＇s shortage. Its operation is demonstrated by using multi-seed, the group member is partitioned to many subgroups. While updating the SEK, computation is needed only in one of subgroups, the other of them will use the computation history to update their SEK. The key problems to design a MPE scheme application includes to find a feasible one way function as well as to generate a Strict Prime Number （SPN）. Those technologies with multi-seed and computation history concepts make MPE as a good choice in practical applications. A prototype test system is designed and solutions of all above mentioned problems are included in this proposed paper.     

Genome assembly comparison identifies structural variants in the human genome

Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from different sources has been used to identify SNPs and intermediate-sized variants (ISVs). However, only a small proportion of total heterogeneity is characterized, and little is known of the characteristics of most smaller-sized (<50 kb) variants. Here we show that genome assembly comparison is a robust approach for identification of all classes of genetic variation. Through comparison of two human assemblies (Celera's R27c compilation and the Build 35 reference sequence), we identified megabases of sequence (in the form of 13,534 putative non-SNP events) that were absent, inverted or polymorphic in one assembly. Database comparison and laboratory experimentation further demonstrated overlap or validation for 240 variable regions and confirmed >1.5 million SNPs. Some differences were simple insertions and deletions, but in regions containing CNVs, segmental duplication and repetitive DNA, they were more complex. Our results uncover substantial undescribed variation in humans, highlighting the need for comprehensive annotation strategies to fully interpret genome scanning and personalized sequencing projects.     

A central role for JNK in obesity and insulin resistance

Obesity is closely associated with insulin resistance and establishes the leading risk factor for type 2 diabetes mellitus, yet the molecular mechanisms of this association are poorly understood. The c-Jun amino-terminal kinases (JNKs) can interfere with insulin action in cultured cells and are activated by inflammatory cytokines and free fatty acids, molecules that have been implicated in the development of type 2 diabetes. Here we show that JNK activity is abnormally elevated in obesity. Furthermore, an absence of JNK1 results in decreased adiposity, significantly improved insulin sensitivity and enhanced insulin receptor signalling capacity in two different models of mouse obesity. Thus, JNK is a crucial mediator of obesity and insulin resistance and a potential target for therapeutics.     

Predecessors of the giant 1960 Chile earthquake

It is commonly thought that the longer the time since last earthquake, the larger the next earthquake's slip will be. But this logical predictor of earthquake size, unsuccessful for large earthquakes on a strike-slip fault, fails also with the giant 1960 Chile earthquake of magnitude 9.5 (ref. 3). Although the time since the preceding earthquake spanned 123 years (refs 4, 5), the estimated slip in 1960, which occurred on a fault between the Nazca and South American tectonic plates, equalled 250-350 years' worth of the plate motion. Thus the average interval between such giant earthquakes on this fault should span several centuries. Here we present evidence that such long intervals were indeed typical of the last two millennia. We use buried soils and sand layers as records of tectonic subsidence and tsunami inundation at an estuary midway along the 1960 rupture. In these records, the 1960 earthquake ended a recurrence interval that had begun almost four centuries before, with an earthquake documented by Spanish conquistadors in 1575. Two later earthquakes, in 1737 and 1837, produced little if any subsidence or tsunami at the estuary and they therefore probably left the fault partly loaded with accumulated plate motion that the 1960 earthquake then expended.