THREE MAIN SPATIAL TECHNIQUES of SPATIAL MIXING SYSTEM

This written review is to have a deep review for three techniques to realize spatial effects, which are Head Related Transfer Functions, Image Source Method, and Schroeder Reverberation, utilized in Spatial Mixing System, 2nd lab report.Architecture & Allied Art

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease.We sequenced the genomes of two sisters with early-onset epileptic encephalopathy along with their unaffected parents in an attempt to find a genetic cause for their condition. The sisters, born in 2004 and 2006, presented with infantile spasms at six months of age, which later progressed to recurrent, treatment-resistant seizures. We detected a compound heterozygous genotype in UBA5 in the sisters, a genotype not seen elsewhere in an Icelandic reference set of 30,067 individuals nor in public databases. One of the mutations, c.684G > A, is a paternally inherited exonic splicing mutation, occuring at the last nucleotide of exon 7 of UBA5. The mutation is predicted to disrupt the splice site, resulting in loss-of-function of one allele of UBA5. The second mutation is a maternally inherited missense mutation, p.Ala371Thr, previously reported as pathogenic when in compound heterozygosity with a loss-of-function mutation in UBA5 and is believed to produce a hypomorphic allele. Supportive of this, we have identified three adult Icelanders homozygous for the p.Ala371Thr mutation who show no signs of neurological disease.We describe compound heterozygous mutations in the UBA5 gene in two sisters with early-onset epileptic encephalopathy. To our knowledge, this is the first description of mutations in UBA5 since the initial discovery that pathogenic biallelic variants in the gene cause early-onset epileptic encephalopathy. We further provide confirmatory evidence that p.Ala371Thr is a hypomorphic mutation, by presenting three adult homozygotes who show no signs of neurological disease

Winter distribution of Calanus finmarchicus in the Northeast Atlantic

Data from plankton sampling and Optical Plankton Counter deployments during six cruises between December of 1994 and 1999 have been used to derive a composite three-dimensional distribution of the abundance of Calanus finmarchicus during winter (December-January) in the Norwegian Sea and Northeast Atlantic. There are two centres of abundance, one in the eastern Norwegian Sea and Faroe-Shetland Channel, associated with the interface between Norwegian Sea Deep Water and Intermediate Water layers, and another in the Irminger Sea southwest of Iceland in association with Labrador Sea Water. In the open Northeast Atlantic, the concentration of wintering animals is around 30% of that in the Norwegian Sea and the vertical distribution ismore diffuse and on average deeper. Modelling studies have shown that the overwinter distribution and transport are key factors determining the spatial persistence of C. finmarchicus but, apart from the data presented here, there is little knowledge of these large-scale properties

MesopTroph, a database of trophic parameters to study interactions in mesopelagic food webs

Mesopelagic organisms play a crucial role in marine food webs, channelling energy across the predator-prey network and connecting depth strata through their diel vertical migrations. The information available to assess mesopelagic feeding interactions and energy transfer has increased substantially in recent years, owing to the growing interest and research activity in the mesopelagic realm. However, such data have not been systematically collated and are difficult to access, hampering estimation of the contribution of mesopelagic organisms to marine ecosystems. Here we present MesopTroph, a georeferenced database of diet, trophic markers, and energy content of mesopelagic and other marine taxa compiled from 203 published and non-published sources. MesopTroph currently includes data on stomach contents, carbon and nitrogen stable isotopes, major and trace elements, energy density, fatty acids, trophic positions, and diet proportion estimates for 498 species/genera. MesopTroph will be expanded with new data emerging from ongoing studies. MesopTroph provides a unique tool to investigate trophic interactions and energy flow mediated by mesopelagic organisms, and to evaluate the ecosystem services of this community

Inhibition of neogenin fosters resolution of inflammation and tissue regeneration

Proteomic

Targeted lipidomics reveals activation of resolution pathways in knee osteoarthritis in humans

Proteomic