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BackgroundDown-sloping sensorineural hearing loss (SNHL) in people in their teens and 20s hampers efficient learning and communication and in-depth social interactions. Nonetheless, its aetiology remains largely unclear, with the exception of some potential causative genes, none of which stands out especially in people in their teens and 20s. Here, we examined the role and genotype–phenotype correlation of lipoxygenase homology domain 1 (LOXHD1) in down-sloping SNHL through a cohort study.MethodsBased on the Seoul National University Bundang Hospital (SNUBH) genetic deafness cohort, in which the patients show varying degrees of deafness and different onset ages (n=1055), we have established the ‘SNUBH Teenager–Young Adult Down-sloping SNHL’ cohort (10–35 years old) (n=47), all of whom underwent exome sequencing. Three-dimensional molecular modelling, minigene splicing assay and short tandem repeat marker genotyping were performed, and medical records were reviewed.ResultsLOXHD1 accounted for 33.3% of all genetically diagnosed cases of down-sloping SNHL (n=18) and 12.8% of cases in the whole down-sloping SNHL cohort (n=47) of young adults. We identified a potential common founder allele, as well as an interesting genotype–phenotype correlation. We also showed that transcript 6 is necessary and probably sufficient for normal hearing.ConclusionsLOXHD1 exceeds other genes in its contribution to down-sloping SNHL in young adults, rising as a signature causative gene, and shows a potential but interesting genotype–phenotype correlation.

The development of an accurate and reliable variant effect prediction tool is important for research in human genetic diseases. A large number of predictors have been developed towards this goal, yet many of these predictors suffer from the problem of data circularity. Here we present MTBAN (Mutation effect predictor using the Temporal convolutional network and the Born-Again Networks), a method for predicting the deleteriousness of variants. We apply a form of knowledge distillation technique known as the Born-Again Networks (BAN) to a previously developed deep autoregressive generative model, mutationTCN, to achieve an improved performance in variant effect prediction. As the model is fully unsupervised and trained only on the evolutionarily related sequences of a protein, it does not suffer from the problem of data circularity which is common across supervised predictors. When evaluated on a test dataset consisting of deleterious and benign human protein variants, MTBAN shows an outstanding predictive ability compared to other well-known variant effect predictors. We also offer a user-friendly web server to predict variant effects using MTBAN, freely accessible at http://mtban.kaist.ac.kr. To our knowledge, MTBAN is the first variant effect prediction tool based on a deep generative model that provides a user-friendly web server for the prediction of deleteriousness of variants.

Down-sloping sensorineural hearing loss (SNHL) in people in their teens and 20s hampers efficient learning and communication and in-depth social interactions. Nonetheless, its aetiology remains largely unclear, with the exception of some potential causative genes, none of which stands out especially in people in their teens and 20s. Here, we examined the role and genotype-phenotype correlation of lipoxygenase homology domain 1 (Based on the Seoul National University Bundang Hospital (SNUBH) genetic deafness cohort, in which the patients show varying degrees of deafness and different onset ages (n=1055), we have established the 'SNUBH Teenager-Young Adult Down-sloping SNHL' cohort (10-35 years old) (n=47), all of whom underwent exome sequencing. Three-dimensional molecular modelling, minigene splicing assay and short tandem repeat marker genotyping were performed, and medical records were reviewed.

In this study, we fabricated ZnO films from Zn films using an electrochemical system under different oxidation currents of 0.2, 0.5, 1, and 2 mA. Most of the samples showed fluctuating potential values near 0 V, and the pH value also showed the same tendency. The morphology of the ZnO films showed a polycrystalline film form and short hexagonal pillars at the underside and upside, respectively, due to the preferred growth of (101) orientation. In the photoluminescence spectra, the highest value of the near band-edge and deep-level emission ratio indicated that a high-quality ZnO film was obtained. To investigate the photoresponse properties, we measured the dark current and photocurrent using a current-voltage measurement system. The ZnO films with the highest quality showed a large number of photocurrent generations and high responsivity value. We expect that this method can offer a novel method of studying the growth of high-quality ZnO films for application to optoelectronic devices.

This study investigated the effect of precursor concentration on both the morphology and the structural, optical, and photoresponse properties of zinc-oxide (ZnO) nanorods when using a ZnO seed layer formed by using the electro-oxidation method. The ZnO nanorods were grown on the ZnO seed layer at various precursor concentrations. Field-emission scanning electron microscopy images revealed that most ZnO nanorods showed a pyramid-like top surface; however, those grown at a concentration of 40 mM showed a flat top surface. X-ray diffraction analysis revealed that the ZnO nanorods showed an improvement in orientation along the c-axis direction with increasing precursor concentration. Photoluminescence spectra showed that the full width at half maximum values of the near-band-edge emission peak and the ratio of the near-band-edge emission peak to the deep-level emission peak increased and decreased, respectively, with increasing precursor concentration, indicating the occurrence of many defects in the ZnO nanorods. In terms of the photoresponse properties, ZnO nanorods grown at a precursor concentration of 20 mM showed the highest responsivity.

ZnO nanorods were prepared on a Si substrate with and without a ZnO seed layer formed by electro-oxidation to investigate the effect of the seed layer on their growth. The ZnO nanorods grown on the ZnO seed layer had top surfaces that were flat whereas those grown without it had rough top surfaces, as observed in field-emission scanning electron microscopy images. In the Xray diffraction analysis, all ZnO nanorods showed preferential orientation with the (002) plane. In the case of ZnO nanorods prepared with a ZnO seed layer, the residual stress decreased, and the full width at half maximum of the ZnO (002) plane peak decreased. The photoluminescence spectra show a strong and narrow near-band-edge emission peak and high near-band-edge emission to deep-level emission peak ratio for the ZnO nanorods prepared with the seed layer. With respect to the photoresponse properties, the ZnO nanorods grown with the ZnO seed layer showed higher responsivity and faster rise/decay curves than those grown without it. Thus, the ZnO seed layer formed by electro-oxidation improves the structural, optical, and photoresponse properties of the ZnO nanorods formed on it. This method could serve as a new route for improving the properties of optoelectronic devices.

We studied the morphological, optical, electrical, and photoresponse properties of ZnO thin films grown by using the sol-gel spin-coating method on Zn buffer layers oxidized at different temperatures ranging from 300 to 600 °C. With increasing the oxidation temperature, the surface morphology changed from granular to a cluster of aggregates. In the photoluminescence spectra, the highest ratio of the intensities of the near-band-edge to the deep-level emission and the lowest value of the full width at half maximum were observed at an oxidation temperature of 300 °C. The ZnO thin film grown on the Zn buffer layer oxidized at a temperature of 300 °C showed the highest values of transmittance in the visible region. The optical band gap was blue-shifted with decreasing oxidation temperature from 400 to 300 °C, and the lowest Urbach energy was observed at an oxidation temperature of 300 °C. In the study of the photoresponse properties, the fastest response/recovery rate and the highest photosensitivity were obtained for the sample prepared at an oxidation temperature of 300 °C.

LG Electronics Inc.(Received December 10, 2015; Revised January 10, 2016; Accepted January 10, 2016)Abstract − In this paper hydrodynamic lubrication analysis is carried out to investigate the effects of groovelocation on the lubrication performance of a piston and cylinder system in a linear compressor. The rectangleshaped grooves having a constant groove depth and width are applied on the lubrication area of the piston. TheUniversal Reynolds equation is used to calculate the oil film pressure, and the Elrod algorithm with the finitedifferent method is used to solve the governing equation. The JFO boundary condition is applied to predict cav-itation regions. Transient analysis for different locations of the grooves on the piston is carried out using the typ-ical operating condition of the linear compressor in order to estimate the variations of frictional power losses andminimum film thicknesses. When the grooves are applied on the lubrication area, both the frictional power lossand the minimum film thickness decrease. The frictional power loss can be reduced effectively, while main-taining a minimum film thickness to enable the piston operation without direct contact with the cylinder surface,by means of choosing a proper location of the grooves. The optimum location of the grooves to improve a lubri-cation performance depends on the operation condition or the system requirements specification.Keywords − linear compressor(리니어 압축기), hydrodynamic lubrication(유체 윤활), piston(피스톤), cylinderliner(실린더 라이너), groove(그루브), groove location(그루브 위치)

Motivation One of the most successful methods for predicting the properties of chemical compounds is the quantitative structure–activity relationship (QSAR) methods. The prediction accuracy of QSAR models has recently been greatly improved by employing deep learning technology. Especially, newly developed molecular featurizers based on graph convolution operations on molecular graphs significantly outperform the conventional extended connectivity fingerprints (ECFP) feature in both classification and regression tasks, indicating that it is critical to develop more effective new featurizers to fully realize the power of deep learning techniques. Motivated by the fact that there is a clear analogy between chemical compounds and natural languages, this work develops a new molecular featurizer, FP2VEC, which represents a chemical compound as a set of trainable embedding vectors. Results To implement and test our new featurizer, we build a QSAR model using a simple convolutional neural network (CNN) architecture that has been successfully used for natural language processing tasks such as sentence classification task. By testing our new method on several benchmark datasets, we demonstrate that the combination of FP2VEC and CNN model can achieve competitive results in many QSAR tasks, especially in classification tasks. We also demonstrate that the FP2VEC model is especially effective for multitask learning. Availability and implementation FP2VEC is available from https://github.com/wsjeon92/FP2VEC. Supplementary information Supplementary data are available at Bioinformatics online.

SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis. No causative genetic alterations for SPONASTRIME dysplasia have yet been determined. Using whole-exome sequencing (WES), we identified bi-allelic TONSL mutations in 10 of 13 individuals with SPONASTRIME dysplasia. TONSL is a multi-domain scaffold protein that interacts with DNA replication and repair factors and which plays critical roles in resistance to replication stress and the maintenance of genome integrity. We show here that cellular defects in dermal fibroblasts from affected individuals are complemented by the expression of wild-type TONSL. In addition, in vitro cell-based as-says and in silico analyses of TONSL structure support the pathogenicity of those TONSL variants. Intriguingly, a knock-in (KI) Tonsl mouse model leads to embryonic lethality, implying the physiological importance of TONSL. Overall, these findings indicate that genetic variants resulting in reduced function of TONSL cause SPONASTRIME dysplasia and highlight the importance of TONSL in embryonic development and postnatal growth.

We investigated the structural and the optical properties of ZnO thin films formed on Corning glass by the oxidation of Zn thin films, which were deposited by using thermal evaporation and were then oxidized at 300 − 600 °C. The grain size of the ZnO thin films increased and the grains became more densely packed with increasing oxidation temperature. In the photoluminescence (PL) spectra of the ZnO thin films, the intensity of the near-band-edge peak increased with increasing temperature to 500 °C, but decreased gradually with further increases in the temperature. The transmittances of the ZnO thin films formed by oxidation at 400 and 500 °C were higher than 85% in the visible-light region. Finally, the Urbach energy decreased significantly and the optical band gap exhibited a blue shift with increasing oxidation temperature from 300 to 400 °C.