- miR-27 regulates mitochondrial networks by directly targeting the mitochondrial fission factor
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Tak H, Kim J, Jayabalan , Lee H, Kang H, Cho DH, Ohn T, Nam SW, Kim W, Lee EK
- KMID: 2155388
- Exp Mol Med.
- 2014 Nov;46(11):e123.
- doi: 10.1038/emm.2014.73
Mitochondrial morphology is dynamically regulated by forming small, fragmented units or interconnected networks, and this is a pivotal process that is used to maintain mitochondrial homeostasis. Although dysregulation of mitochondrial... -
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- Novel Mutations in the UNC13D Gene Carried by a Chinese Neonate with Hemophagocytic Lymphohistiocytosis
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Chen Y, Wang Z, Cheng Y, Tang Y
- KMID: 2158245
- Yonsei Med J.
- 2013 Jul;54(4):1053-1057.
- doi: 10.3349/ymj.2013.54.4.1053
Hemophagocytic lymphohistiocytosis (HLH) in different ethnicities has been described in the literature, but few cases in patients of Chinese descent have been reported. Here, we describe the case of a... -
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- Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism
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Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX
- KMID: 2419100
- Yonsei Med J.
- 2017 Jul;58(4):888-890.
- doi: 10.3349/ymj.2017.58.4.888
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism... -
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- PNPLA3 rs738409 Polymorphism Associated with Hepatic Steatosis and Advanced Fibrosis in Patients with Chronic Hepatitis C Virus: A Meta-Analysis
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Fan JH, Xiang MQ, Li QL, Shi HT, Guo JJ
- KMID: 2411974
- Gut Liver.
- 2016 May;10(3):456-463.
- doi: 10.5009/gnl15261
BACKGROUND/AIMS: The recognition of a correlation between patatin-like phospholipase domain containing-protein 3 (PNPLA3) rs738409 (C>G) and the severity of liver steatosis or fibrosis in chronic hepatitis C (CHC) has not... -
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- Differential Methylation Pattern of ID4, SFRP1, and SHP1 between Acute Myeloid Leukemia and Chronic Myeloid Leukemia
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Uhm KO, Lee ES, Lee YM, Park JS, Kim SJ, Kim BS, Kim HS, Park SH
- KMID: 1779169
- J Korean Med Sci.
- 2009 Jun;24(3):493-497.
- doi: 10.3346/jkms.2009.24.3.493
To gain insight into the differential mechanism of gene promoter hypermethylation in acute and chronic leukemia, we identified the methylation status on one part of 5'CpG rich region of 8... -
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- Molecular heterogeneity of plpE gene in Indian isolates of Pasteurella multocida and expression of recombinant PlpE in vaccine strain of P. multocida serotype B: 2
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Singh AP, Singh S, Ranjan R, Gupta SK, Singh VP, Sharma B
- KMID: 1093497
- J Vet Sci.
- 2010 Sep;11(3):227-233.
- doi: 10.4142/jvs.2010.11.3.227
Outer membrane proteins of Pasteurella (P.) multocida have been known to be protective immunogens. Pasteurella lipoprotein E (PlpE) has been reported to be an important cross reactive outer membrane protein... -
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- Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene
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Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW
- KMID: 2157828
- J Korean Med Sci.
- 2006 Aug;21(4):724-727.
- doi: 10.3346/jkms.2006.21.4.724
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF... -
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- Molecular variations in Th1-specific cell surface gene Tim-3
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Chae SC, Song JH, Pounsambath P, Yuan HY, Lee JH, Kim JJ, Lee YC, Chung HT
- KMID: 1097110
- Exp Mol Med.
- 2004 Jun;36(3):274-278.
The family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is identified to be expressed on T cells. A member of Tim family, Tim-3 (T cell immunoglobulin mucin 3)... -
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- Relationships between Genetic Variations of PNPLA3, TM6SF2 and Histological Features of Nonalcoholic Fatty Liver Disease in Japan
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Akuta N, Kawamura Y, Arase Y, Suzuki F, Sezaki H, Hosaka T, Kobayashi , Kobayashi , Saitoh S, Suzuki Y, Ikeda K, Kumada H
- KMID: 2411972
- Gut Liver.
- 2016 May;10(3):437-445.
- doi: 10.5009/gnl15163
BACKGROUND/AIMS: It is important to determine the noninvasive parameters of histological features in nonalcoholic fatty liver disease (NAFLD). The aim of this study was to investigate the value of genetic... -
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- The association of 5-alpha reductase type 2 (SRD5A2) gene polymorphisms with prostate cancer in a Korean population
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Choi SY, Kim HJ, Cheong HS, Myung SC
- KMID: 2070265
- Korean J Urol.
- 2015 Jan;56(1):19-30.
- doi: 10.4111/kju.2015.56.1.19
PURPOSE: Steroid 5-alpha reductase type 2 (SRD5A2) modifies testosterone to dihydrotestosterone (DHT) in the prostate. Single-nucleotide polymorphisms (SNPs) of the SRD5A2 gene might affect DHT. We sought to understand the... -
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- Intravenous KITENIN shRNA Injection Suppresses Hepatic Metastasis and Recurrence of Colon Cancer in an Orthotopic Mouse Model
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Hwang JE, Shim HJ, Park YK, Cho SH, Bae WK, Kim DE, Kim KK, Chung IJ
- KMID: 1123443
- J Korean Med Sci.
- 2011 Nov;26(11):1439-1445.
- doi: 10.3346/jkms.2011.26.11.1439
KITENIN (KAI1 C-terminal interacting tetraspanin) promotes invasion and metastasis in mouse colon cancer models. In the present study, we evaluated the effects of KITENIN knockdown by intravenous administration of short... -
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- Sec13 induces genomic instability in U2OS cells
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Sihn CR, Suh EJ, Lee KH, Kim SH
- KMID: 1056239
- Exp Mol Med.
- 2005 Jun;37(3):255-260.
Sec13p has been known as an endoplasmic reticulum-Golgi transport protein. Recently, it has also been shown to be required for the formation of septation in the fission yeast Schizosaccharomyces pombe.... -
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- Identification of Differentially Expressed Genes in Papillary Thyroid Cancers
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Lee KY, Huang SM, Li S, Kim JM
- KMID: 1782969
- Yonsei Med J.
- 2009 Feb;50(1):60-67.
- doi: 10.3349/ymj.2009.50.1.60
PURPOSE: Techniques designed to identify differentially expressed genes (DEGs) in tumors have become important in modern pathology. Genefishing technique(TM) using the annealing control primer (ACP) system has recently been developed... -
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- The Prevalence of Peripheral Iron Overload and the Presence of HFE gene (H63D) Mutation among the Korean Patients with Nonalcoholic Fatty Liver Disease
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Lee D, Jeong SH, Lee M, Cho YA, Kim JW, Park Y, Hwang JH, Kim NY, Lee DH
- KMID: 760721
- Korean J Hepatol.
- 2007 Jun;13(2):174-184.
BACKGROUNDS/AIMS: There are controversies on the role of iron overload in the mechanism of liver injury in nonalcoholic fatty liver disease (NAFLD). The aim of this study was to... -
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- Identification of the polymorphisms in IFITM3 gene and their association in a Korean population with ulcerative colitis
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Seo GS, Lee JK, Yu JI, Yun KJ, Chae SC, Choi SC
- KMID: 983982
- Exp Mol Med.
- 2010 Feb;42(2):99-104.
- doi: 10.3858/emm.2010.42.2.011
Interferons play critical roles in tumor pathogenesis by controlling apoptosis and through cellular anti-proliferative and differentiation activities. Interferon inducible transmembrane protein (IFITM) family genes have been implicated in several cellular... -
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- Potential Association of DCBLD2 Polymorphisms with Fall Rates of FEV1 by Aspirin Provocation in Korean Asthmatics
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Park TJ, Kim JH, Park BL, Cheong HS, Bae JS, Pasaje CF, Park JS, Uh ST, Kim MK, Choi IS, Park CS, Shin HD
- KMID: 2157892
- J Korean Med Sci.
- 2012 Apr;27(4):343-349.
- doi: 10.3346/jkms.2012.27.4.343
Aspirin exacerbated respiratory disease (AERD) is a clinical syndrome characterized by chronic rhinosinusitis with nasal polyposis and aspirin hypersensitivity. The aspirin-induced bronchospasm is mediated by mast cell and eosinophilic inflammation.... -
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- Two Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type
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Lee BH, Ahn YH, Choi HJ, Kang HK, Kim SD, Cho BS, Moon KC, Ha IS, Cheong HI, Choi Y
- KMID: 1778164
- J Korean Med Sci.
- 2009 Jan;24(Suppl 1):S210-S214.
- doi: 10.3346/jkms.2009.24.S1.S210
Congenital nephrotic syndrome is defined as nephrotic syndrome which manifests in utero or during the first 3 months of life. The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome... -
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