Displaying all 5 publications

  1. Zhang X, Uchiyama Y, Nakayama A
    Mar. Pollut. Bull., 2019 Jul;144:265-274.
    PMID: 31179996 DOI: 10.1016/j.marpolbul.2019.04.050
    An Eulerian passive tracer model coupled with a quadruple-nested 3D circulation model was used to assess the coastal dispersal of treated wastewater effluent from a sewage treatment plant and the associated impacts on an adjacent seaweed farm using three different operational scenarios. When the discharged volume and source effluent fluxes were decreased by ~16.7%, the accumulated effluent in the farm was reduced by ~25.4%. A tracer flux budget analysis revealed the apparent predominance of the transient component that accounts for the nonlinear interactions primarily from tidal currents and eddies. The transient flux promoted the effluent influx to impede effluent accumulation in the farm, whereas the mean flux contributed to the outgoing flux. A source flux reduction caused a remarkable decrease in the transient flux and thus an even greater effluent accumulation reduction. In turn, a modified source density scenario without total effluent volume change did not work as expected.
  2. Uchiyama Y, Zhang X, Suzue Y, Kosako T, Miyazawa Y, Nakayama A
    Mar. Pollut. Bull., 2018 May;130:40-54.
    PMID: 29866568 DOI: 10.1016/j.marpolbul.2018.03.007
    A high-resolution 3-D model was developed to assess the impact of a diversion outfall at the Tarumi Sewage Treatment Plant (TSTP) on an adjacent seaweed farm in Osaka Bay, Japan. The model was extensively validated to ensure a reasonable agreement with in situ observations. The western part of the farm is largely influenced by tidal currents, whereas the eastern area is mainly affected by subtidal residual currents that are primarily due to surface wind stress. The released effluent is transported by counterclockwise residual circulation formed off the TSTP. The model reveals that the diversion adequately suppresses the influence on the farm. While the instantaneous effluent concentration is diminished by about 50%, the effluent accumulated on the farm decreased from 2.83 × 104 m3 to 2.01 × 104 m3 due to the diversion, demonstrating an approximately 28% reduction of the effluent from the TSTP by the diversion outfall.
  3. Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, et al.
    Clin. Genet., 2018 03;93(3):577-587.
    PMID: 28940419 DOI: 10.1111/cge.13144
    Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human diseases including epilepsy. Whole-exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations and has recently been applied to detecting CNVs. Here, we analyzed 294 families with epilepsy using WES, and focused on 168 families with no causative single nucleotide variants in known epilepsy-associated genes to further validate CNVs using 2 different CNV detection tools using WES data. We confirmed 18 pathogenic CNVs, and 2 deletions and 2 duplications at chr15q11.2 of clinically unknown significance. Of note, we were able to identify small CNVs less than 10 kb in size, which might be difficult to detect by conventional microarray. We revealed 2 cases with pathogenic CNVs that one of the 2 CNV detection tools failed to find, suggesting that using different CNV tools is recommended to increase diagnostic yield. Considering a relatively high discovery rate of CNVs (18 out of 168 families, 10.7%) and successful detection of CNV with <10 kb in size, CNV detection by WES may be able to surrogate, or at least complement, conventional microarray analysis.
  4. Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, et al.
    J. Hum. Genet., 2019 Dec;64(12):1173-1186.
    PMID: 31530938 DOI: 10.1038/s10038-019-0667-4
    Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.
  5. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, et al.
    Autophagy, 2016;12(1):1-222.
    PMID: 26799652 DOI: 10.1080/15548627.2015.1100356
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