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Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Bae, Soyoung,Yang, Aram,Ahn, Ja-Hye,Kim, Jinsup,Park, Hyun Kyung Korean Society of Medical Genetics and Genomics 2021 대한의학유전학회지 Vol.18 No.1
Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.
( Soyoung Yeo ),( Hee Sung Shin ),( Hye Won Lee ),( Doseon Hong ),( Hyunjoon Park ),( Wilhelm Holzapfel ),( Eun Bae Kim ),( Chul Sung Huh ) 한국미생물생명공학회(구 한국산업미생물학회) 2018 Journal of microbiology and biotechnology Vol.28 No.5
The beneficial effects of lactic acid bacteria (LAB) have been intensively investigated in recent decades with special focus on modulation of the host intestinal microbiota. Numerous discoveries of effective probiotics are driven by a significantly increasing demand for dietary supplements. Consequently, technological advances in the large-scale production and lyophilization are needed by probiotic-related industries for producing probiotic LAB for commercial use. Our study had a dual objective, to determine the optimum growth medium composition and to investigate appropriate cryoprotective additives (CPAs) for Lactobacillus salivarius, and compare its responses with other Lactobacillus species. The one-factor-at-a-time method and central composite design were applied to determine the optimal medium composition for L. salivarius cultivation. The following composition of the medium was established (per liter): 21.64 g maltose, 85 g yeast extract, 1.21 ml Tween 80, 6 g sodium acetate, 0.2 g MgSO4·7H2O, 0.02 g MnSO4·H2O, 1 g K2HPO4, 1.5 g KH2PO4, 0.01 g FeSO4·7H2O, and 1 g sodium citrate. A cryoprotective additive combination comprising 10% (w/v) skim milk and 10% (w/v) sucrose supplemented with 2.5% (w/v) sodium glutamate was selected for L. salivarius, and its effectiveness was confirmed using culture-independent methods in the freeze-dried cells of the Lactobacillus strains. In conclusion, the optimized medium enhanced the species-specific cultivation of L. salivarius. On the other hand, the cryoprotective effects of the selected CPA mixture may also be dependent on the bacterial strain. This study highlights the necessity for precise and advanced processing techniques for large-scale production of probiotics in the food and feed industries.
Enhanced electrochemical reactions of 1,4-benzoquinone at nanoporous electrodes
Bae, Je Hyun,Kim, Yang-Rae,Soyoung Kim, R.,Chung, Taek Dong The Royal Society of Chemistry 2013 Physical chemistry chemical physics Vol.15 No.26
<P>We report that the proton-coupled electron transfer kinetics of 1,4-benzoquinone was significantly enhanced in electrified nanopores in aqueous media. At nanoporous Pt and Au electrodes, the voltammetric behaviour of 1,4-benzoquinone at nanoporous electrodes was clearly distinct from that at flat surfaces. Proton transfer as well as electron transfer kinetics were facilitated in the nanopores by the confinement effect, which indicates all factors originated from the geometric features of nano-scale concave space surrounded by inner walls, suggesting how to utilize nanoporous electrodes for electrocatalysis.</P> <P>Graphic Abstract</P><P>Nanoporous electrodes enhance proton as well as electron transfer. <IMG SRC='http://pubs.rsc.org/services/images/RSCpubs.ePlatform.Service.FreeContent.ImageService.svc/ImageService/image/GA?id=c3cp50175b'> </P>
Case influence diagnostics for the significance of the linear regression model
Bae, Whasoo,Noh, Soyoung,Kim, Choongrak The Korean Statistical Society 2017 Communications for statistical applications and me Vol.24 No.2
In this paper we propose influence measures for two basic goodness-of-fit statistics, the coefficient of determination $R^2$ and test statistic F in the linear regression model using the deletion method. Some useful lemmas are provided. We also express the influence measures in terms of basic building blocks such as residual, leverage, and deviation that showed them as increasing function of residuals and a decreasing function of deviation. Further, the proposed measure reduces computational burden from O(n) to O(1). As illustrative examples, we applied the proposed measures to the stackloss data sets. We verified that deletion of one or few influential observations may result in big change in $R^2$ and F-statistic.