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Kim Ye-Ri,Kim Hye-Min,Lee Byeonghyeon,Baek Jeong-In,Lee Kyu-Yup,Park Hong-Joon,Kim Un-Kyung 한국유전학회 2023 Genes & Genomics Vol.45 No.2
Backgound Hereditary hearing loss is one of the most common genetically heterogeneous defects in human. About 70% of hereditary hearing loss is defined as non-syndromic hearing loss showing loss of hearing ability without any other symptoms. Up to date, the identified genes associated with non-syndromic hearing loss are 128, including 52 genes for DFNA and 76 genes for DFNB. Because of high levels of heterogeneity, it is difficult to identify the causative factors for hearing loss using Sanger sequencing. Objective Our aim was to detect causative factors and investigate pathogenic mutations, which co-segregates within the candidate family. Methods We used Next Generation Sequencing technique to investigate whole-exome sequences of a Korean family with non-syndromic hereditary hearing loss. The family showed autosomal dominant inheritance pattern. Results We identified a novel missense variation, c.1978G > A in MYO7A gene, in the family with the autosomal dominant inheritance pattern. c.1978G > A produced Gly660Arg in the motor head domain of Myosin VIIA disrupt the ATP- and actin-binding motif function. Conclusion This study is the first to report pathogenic mutations within MYO7A gene in Korean family and our data would facilitate diagnosing the primary cause of hereditary hearing loss in Korean.
Case Report : A Case of Neonatal Lupus Erythematosus Showing Transient Anemia and Hepatitis
Kyu Ri Kim,Tae Young Yoon 대한피부과학회 2009 Annals of Dermatology Vol.21 No.3
Neonatal lupus erythematosus (NLE) is an autoimmune disease that is associated with transplacental passage of maternal autoantibodies that are reactive to SSA/Ro and SSB/La antigens. Cardiac involvement, hematologic abnormality and hepatic disease may occur in the infants suffering with NLE, in addition to the characteristic skin lesions. We report here on a case of NLE in a 4-week-old female infant who was born to an asymptomatic mother, and the baby displayed the characteristic clinical and histological features of cutaneous NLE with transient anemia and hepatitis. Both the infant and mother were positive for anti-SSA/Ro and anti-SSB/La. There have been 18 case reports of NLE in the Korean literature, including 7 case reports in the dermatological field. We describe herein another case of NLE that showed transient anemia and hepatitis, and we also review the case reports of NLE in the Korean literature. (Ann Dermatol 21(3) 315~318, 2009)
Kyu Ri Kim,Ji Yeoun Lee,Mi Kyeong Kim,Tae Young Yoon 대한피부과학회 2009 Annals of Dermatology Vol.21 No.3
Follicular mucinosis (FM) is an epithelial reaction pattern that is characterized by the accumulation of mucinous material in the epithelial hair follicle sheath and the sebaceous glands. Although various pharmacological agents have been employed in an attempt to treat FM, effective therapeutic options have remained elusive. We experienced a recalcitrant form of primary FM that we successfully treated with indomethacin and low-dose intralesional interferon alpha (IFN α), respectively. To the best of our knowledge, the primary type of FM that responded to indomethacin and low-dose IFN α, respectively, in a single case has not been reported in the English medical literature. (Ann Dermatol 21(3) 285~287, 2009)
( Kyu Ri Kim ),( Ji Yeoun Lee ),( Mi Kyeong Kim ),( Tae Young Yoon ) 대한피부과학회 2010 Annals of Dermatology Vol.22 No.2
Erosive pustular dermatosis of the scalp (EPDS) is a rare disorder of the elderly characterized by multiple pustular lesions with erosions and crusting that result in scarring alopecia. EPDS typically develops in aged or sun-damaged skin with a history of trauma. Histopathologically, EPDS is nonspecific, showing atrophic epidermis and chronic inflammation. Bacteriological and mycological investigations of EPDS are generally negative. Although herpes zoster is a common disorder in elderly people, previously reported cases of EPDS were rarely associated with herpes zoster. We present a rare case of EPDS following herpes zoster treated successfully with topical tacrolimus. (Ann Dermatol 22(2) 232~234, 2010)
Kyu Ri Hahn,Woosuk Kim,Hyo Young Jung,Hyun Jung Kwon,Sung Min Nam,Tae Hyeong Kim,Jong Whi Kim,Dae Young Yoo,Dae Won Kim,Jung Hoon Choi,Yeo Sung Yoon,In Koo Hwang 한국실험동물학회 2021 한국실험동물학회 학술발표대회 논문집 Vol.2021 No.7
In the present study, we investigated the effects of cuprizone on cell death, glial activation, and neuronal plasticity induced by hypothermia after ischemia in gerbils. Food was supplemented with cuprizone at 0.2% ad libitum for eight weeks. At six weeks after diet feeing, gerbils received transient forebrain ischemia with or without hypothermic preconditioning. Cuprizone treatment for 8 weeks increased the number of astrocytes, microglia, and pro-inflammatory cytokine levels in the hippocampus. In addition, cuprizone treatment significantly decreased the number of proliferating cells and neuroblasts in the dentate gyrus. Brain ischemia caused cell death, disruption of myelin basic proteins, and reactive gliosis in CA1. In addition, ischemia significantly increased pro-inflammatory cytokines and the number of proliferating cells and differentiating neuroblasts in the dentate gyrus. In contrast, hypothermic conditioning attenuated these changes in CA1 and the dentate gyrus. However, cuprizone treatment decreased cell survival induced by hypothermic preconditioning after ischemia and increased the number of reactive microglia and astrocytes in CA1 as well as of macrophages in the subcallosal zone. These changes occurred because the protective effect of hypothermia in ischemic damage was disrupted by cuprizone administration. Furthermore, cuprizone decreased ischemia-induced proliferating cells and neuroblasts in the dentate gyrus
Isolation and Characterization of a Type II Peroxiredoxin Gene from Panax ginseng C. A. Meyer
Kim, Yu-Jin,Lee, Jung-Hye,Lee, Ok-Ran,Shim, Ju-Sun,Jung, Seok-Kyu,Son, Na-Ri,Kim, Ju-Han,Kim, Se-Young,Yang, Deok-Chun The Korean Society of Ginseng 2010 Journal of Ginseng Research Vol.34 No.4
A peroxiredoxin cDNA (PgPrx) was isolated and characterized from the leaves of Panax ginseng. The cDNA is 716 nucleotides long and has an open reading frame of 489 base pairs with a deduced amino acid sequence of 162 residues. The calculated molecular mass of the mature protein is approximately 17.4 kDa with a predicted isoelectric point of 5.37. A GenBank BlastX search revealed that the deduced amino acid sequence of PgPrx shares a high degree homology with type II peroxiredoxin (Prx) proteins in other plants. The PgPrx gene was highly expressed in leaves, and expressed at a low level in the stem. To analyze the gene expression of PgPrx in response to various abiotic stresses, we utilized real-time quantitative RT-PCR. Our results reveal that PgPrx expression is induced by ultraviolet irradiation, low temperature, and salt. The induction of PgPrx in response to abiotic stimuli suggests that ginseng Prx may function to protect the host against environmental stresses.
Kyu-Ri Lee,Sang-Rae Moon,Jeong-Eun Lee,Gil-Hah Kim 한국응용곤충학회 2010 한국응용곤충학회 학술대회논문집 Vol.2010 No.05
Twospotted spider mite, Tetranychus urticae was collected from the rose greenhouse in Gimhae, Gyeongnam province in Jan, 2001. Resistant strain was reared over nine years treated with Acequinocyl (over 400 times), and increased 614 folds as compared to susceptible strain (S). Cross resistance of acequinocylresistant strain adults to eight acaricide was showed high in Cyflumetofen (108 folds) and expressed low in Abamectin (16 folds), Tebufenpyrad (7.6 folds), Fenpyroximate (6.1 folds). Against Chlorfenapyr (0.5 folds), however, showed negatively correlated cross resistance. Synergistic effects with PBO (piperonyl butoxide), an oxygenase inhibitor, DEF (S,S,S-tributyl phosphorotrithioate), an esterase inhibitor, and DEM (diethymaleate), an inhibitor of glutathion S-transferase were also investigated. Synergistic effect showed low in DEM (4.2 folds) but showed high in PBO (12 folds) and DEF (23 folds).
Prevalence of elevated glycated hemoglobin in women with polycystic ovary syndrome
Kim, Jin Ju,Choi, Young Min,Cho, Young Min,Jung, Hye Seung,Chae, Soo Jin,Hwang, Kyu Ri,Hwang, Seung Sik,Ku, Seung Yup,Kim, Seok Hyun,Kim, Jung Gu,Moon, Shin Yong Oxford University Press 2012 Human reproduction Vol.27 No.5
<P>Recently, the American Diabetes Association (ADA) has included glycated hemoglobin A1(c) (A1C) level as a component of diagnostic criteria of 'diabetes' or 'increased risk for diabetes'. This study was conducted to examine the prevalence of and risk factors for 'elevated A1C' (5.7%) in women with polycystic ovary syndrome (PCOS).</P>
Kim, Ri Hyeon,Chang, Mee Soo,Kim, Hyun Ja,Song, Kyu Sang,Kim, Yong Sung,Choi, Bo Youl,Kim, Woo Ho Potamitis Press 2010 Anticancer research Vol.30 No.6
<P>BACKGROUND: Epstein-Barr virus-associated gastric carcinoma (EBV-GC) has been characterized as a special gastric cancer subset. Lifestyle and other major factors that may contribute to EBV-GC and non-EBV-GC were investigated here. MATERIALS AND METHODS: A total of 247 patients with gastric cancer were interviewed, clinicopathological information was retrieved, and in situ hybridization was performed for EBV-encoded small RNAs. RESULTS: There were 18 EBV-GC (male:female=17:1) and 229 non-EBV-GC patients (male:female=161:68). A history of previous gastric ulcer was associated with EBV-GC, whereas frequent and heavy alcohol drinking was related to non-EBV-GC. Additionally, skipping breakfast was correlated with EBV-GC in male patients. Other factors, such as body mass index, history of gastritis, Helicobacter pylori infection, ABO blood type, family history of gastric cancer, education level, marital status, occupation, family status, and dietary factors, showed no significant differences between EBV-GC and non-EBV-GC. CONCLUSION: A history of gastric ulcer, reflecting chemical injury to the stomach mucosa, appears to contribute to development of EBV-GC. Alcohol drinking was more related to non-EBV-GC than EBV-GC.</P>