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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.
김수진,김동균,고은학,이영재,성상경 한국항공우주학회 2021 International Journal of Aeronautical and Space Sc Vol.22 No.3
This paper presents methods of mode transition in the integrated navigation based on selective sensor configurations to ensure continuous and reliable navigation performance in urban flight environments such as high-rise buildings. First, this paper characterizes candidate techniques using conventional DOP and error covariance for quantitative analysis of the navigation mode transition. Then, this paper proposes a new hybrid logic that reflects the deployment of heterogeneous sensor measurements considering characteristics of the urban flight environment. Through the proposed mode transition algorithm, enhanced estimation performance is achieved between GPS/INS integrated navigation and map-aided Range/INS integrated navigation. Finally, simulation and practical flight experiments under the urban flight environment demonstrated the suggested improvement of navigation performance.
In vivo molecular imaging in preclinical research
김수진,이호영 한국실험동물학회 2022 Laboratory Animal Research Vol.38 No.4
In vivo molecular imaging is a research field in which molecular biology and advanced imaging techniques are combined for imaging molecular-level biochemical and physiological changes that occur in a living body. For biomolecular imaging, the knowledge of molecular biology, cell biology, biochemistry, and physiology must be applied. Imaging techniques such as fluorescence, luminescence, single-photon emission computed tomography (SPECT), positron emission tomography (PET), computed tomography (CT), and magnetic resonance imaging (MRI) are used for biomolecular imaging. These imaging techniques are used in various fields, i.e., diagnosis of various diseases, development of new drugs, development of treatments, and evaluation of effects. Moreover, as biomolecular imaging can repeatedly acquire images without damaging biological tissues or sacrificing the integrity of objects, changes over time can be evaluated.Phenotypes or diseases in a living body are caused by the accumulation of various biological phenomena. Genetic differences cause biochemical and physiological differences, which accumulate and cause anatomical or structural changes. Biomolecular imaging techniques are suitable for each step. In evaluating anatomical or structural changes, MRI, CT, and ultrasound have advantages in obtaining high-resolution images. SPECT and MRI are advantageous for the evaluation of various physiological phenomena. PET and magnetic resonance spectroscopy can be used to image biochemical phenomena in vivo. Although various biomolecular imaging techniques can be used to evaluate various biological phenomena, it is important to use imaging techniques suitable for each purpose.