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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
김수진,조성윤,맹세현,손영배,김수진,기창석,진동규 대한소아청소년과학회 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.8
Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability,and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56–76% of affected individuals who have been tested,suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A , which encodes a histone demethylase that interacts with MLL2 . Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing,we identified a frameshift heterozygous mutation for MLL2 : (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.
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와이어 방전가공이 초경과 두랄루민 표면의 화학 조성에미치는 영향
김수진 한국기계가공학회 2024 한국기계가공학회지 Vol.23 No.1
The chemical composition of the wire electric discharge machining (WEDM) recasting layer must be analyzed, asit affects the surface properties of the product. This study examines the WEDM surfaces of cemented carbide(WC) and aluminum 7075 by (scanning electron microscopy (SEM) and energy dispersive X-ray spectroscopy(EDS). Up to 87% of the diameter of the WC cylinder is machined by a brass wire. However, cracks and fluidforces break the remaining 13%. The broken cross-section consists of 1- -㎛ sized WC grains bonded with cobaltmetal and without brass elements. Copper elements, which do not exist in WC materials, are then detected onthe convex spherical portion of the WC WEDM surface, and tungsten, which is the main component of thematerial, is observed on the lower surface. This indicates that some brass electrode particles that were removedby the spark adheres to the cemented carbide surface. The aluminum component is uniform, but theconcentration of the copper component is scattered irregularly. Therefore, some melted electrodes appear to beirregularly attached to the aluminum 7075 WEDM surface. The oxygen component is distributed more in theconvex than in the concave portion, which means that the convex portion of the aluminum is mainly oxidized toalumina. On the WEDM surface of the WC under a high melting point, 16.7 wt.% of zinc and 41.8 wt.% ofcopper, which were not detected prior to electric discharge machining, are detected. However, on the WEDMsurface of aluminum 7075 with a low melting point, increases of only 8.8 wt.% of zinc and 6.3 wt.% of copperwere observed.
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식중독균 제어를 위한 유용미생물의 항균물질 생산 및 유전체 특성 연구
김수진,신진송,박한솔,송지섭,이기원,방우석,조태진 한국유산균프로바이오틱스학회 2022 Current Topic in Lactic Acid Bacteria and Probioti Vol.8 No.1
This mini-review focused on the current advances in the development and the application of the antibacterial agents produced from probiotics strains against foodborne pathogens. Inhibitory activity of the pathogen growth could be achieved by co-culture with probiotics and/or the treatment of metabolites extracted from probiotics culture, whereas strain-dependent efficacy was mainly reported according to the bacterial species of the target pathogens. To overcome the limited antibacterial spectrum and the efficacy of the metabolites from probiotics, the recent research highlight the discovery of novel bioactive substances with broad range of the inhibitory activity of foodborne pathogens and mode-of-action which has not been reported as the major research goal. Moreover, understanding the distribution of functional and regulation genes coding the production of the antibacterial metabolites based on the bacterial genome analysis can provide the clues for the mechanisms of the pathogen control by using probiotics. Major strategies on the application of the genomics in this research area can be represented as follows: 1) functional annotation specialized for antimicrobial proteins, 2) assessment of the antibacterial effects followed by the general/functional annotation, 3) genome and metabolites analysis for the purification of antimicrobial proteins, 4) comparative genomics and the characterization of antimicrobial potential. Especially the relationship between phenotype-genotype based on genomic bioinformation with the results of the practical efficacy tests of bacterial metabolites as an active substance of disinfectants and/or preservatives can be expected to act as supportive research for broadening our knowledge regarding the key metabolic pathways associated with the production of antibacterials from probiotics.
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