• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1150-1154
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• 2002

Wolff-Parkinson-White(WPW) syndrome is characterized by electrographic evidence of ventricular preexcitation, which predisposes to supraventicular arrhythmias. Familial occurrence of WPW syndrome is uncommon. We observed two affected siblings in a family. Five members of the family underwent 12-lead electrocardiography and echocardiography. Although known genetic abnormality of the 7q34-q36(PRKAG2) for the familial WPW syndrome was evaluated, the mutation was not detected in this family. Other unknown mutations responsible for this familial WPW syndrome were suggested.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.3
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• pp.202-208
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• 2015

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with biochemical testing that led to an initial consideration of a diagnosis of Wilson disease (WD) resulting in a delayed diagnosis of PFIC3. Diagnosis of PFIC3 was later confirmed by molecular studies that identified novel mutations in the ABCB4 gene. Cholestasis due to PFIC3 can cause elevated hepatic copper and increased urine copper excretion that overlap with current diagnostic criteria for WD. Molecular diagnostics are very useful for establishing the diagnosis of PFIC3. Ursodeoxycholic acid ameliorates cholestasis in PFIC3, and may help mediate a reduction in hepatic copper content in response to treatment.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.47-51
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• 2013

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-${\beta}$ receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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• pp.4057-4060
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• 2015

Cigarette smoke contains oxidants and free radicals which are carcinogens that can induce mutations in humans. Single nucleotide polymorphisms (SNPs) are the most frequent genetic alterations found in the human genome. In the present study, we have examined the ability of the murine double minute 2 (Mdm2) (rs769412) A>G polymorphism in cigarette smokers to predict risk of cancers. Our results showed that of smokers, 87% were found with AA genotype, 10% with heterozygous AG genotype, and 3% with GG genotype. The heterozygous AG genotype was observed in a lower percentage of smokers (10%) as compared to non-smokers (18%), whereas, homozygous AA genotype was observed in lower percentage of non-smokers (81%) as compared to the smokers (87%). The results from present study support the association with an allele and AG genotype in non-smokers. However, further studies are required to establish the role of Mdm2 (rs769412) C>T in cigarettes smokers and diseases.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.42-46
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• 2016

Isovaleric acidemia is autosomal-recessively inherited and an inborn error of metabolism caused by abnormal leucine metabolism due to the genetic defect of IVD (Isovaleryl-CoA dehydrogenase). IVD corresponds to mitochondrial matrix enzyme that acts on converting isovaleryl-CoA into 3-methylcrotonyl-CoA in the leucine catabolism. The IVD gene is located at Chromosome 15q14-q15, particularly between base pair 40,405,485 and base pair 40,435,948. It consists of 12 exons and has been reported to cause over 50 diseases so far. We conducted IVD gene test on the patient with acute isovaleric acidemia and confirmed a new type of mutation for the first time. As a result of analyzing the IVD gene sequence, we found out that c.129T>G(p.Asn43Lys) and c.1033A>G(p.Asn345Asp) mutations exist as heterozygosity at Exon 1 and Exon 10 respectively, novel mutation.

• Biomolecules & Therapeutics
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• v.26 no.1
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• pp.45-56
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• 2018

Cancer is the leading cause of human deaths worldwide. Understanding the biology underlying the evolution of cancer is important for reducing the economic and social burden of cancer. In addition to genetic aberrations, recent studies demonstrate metabolic rewiring, such as aerobic glycolysis, glutamine dependency, accumulation of intermediates of glycolysis, and upregulation of lipid and amino acid synthesis, in several types of cancer to support their high demands on nutrients for building blocks and energy production. Moreover, oncogenic mutations are known to be associated with metabolic reprogramming in cancer, and these overall changes collectively influence tumor-microenvironment interactions and cancer progression. Accordingly, several agents targeting metabolic alterations in cancer have been extensively evaluated in preclinical and clinical settings. Additionally, metabolic reprogramming is considered a novel target to control cancers harboring un-targetable oncogenic alterations such as KRAS. Focusing on lung cancer, here, we highlight recent findings regarding metabolic rewiring in cancer, its association with oncogenic alterations, and therapeutic strategies to control deregulated metabolism in cancer.

• Biomolecules & Therapeutics
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• v.26 no.1
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• pp.57-68
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• 2018

Nuclear factor E2-related factor 2 (NRF2) plays an important role in redox metabolism and antioxidant defense. Under normal conditions, NRF2 proteins are maintained at very low levels because of their ubiquitination and proteasomal degradation via binding to the kelch-like ECH associated protein 1 (KEAP1)-E3 ubiquitin ligase complex. However, oxidative and/or electrophilic stresses disrupt the KEAP1-NRF2 interaction, which leads to the accumulation and transactivation of NRF2. During recent decades, a growing body of evidence suggests that NRF2 is frequently activated in many types of cancer by multiple mechanisms, including the genetic mutations in the KEAP1-NRF2 pathway. This suggested that NRF2 inhibition is a promising strategy for cancer therapy. Recently, several NRF2 inhibitors have been reported with anti-tumor efficacy. Here, we review the mechanisms whereby NRF2 is dysregulated in cancer and its contribution to the tumor development and radiochemoresistance. In addition, among the NRF2 inhibitors reported so far, we summarize and discuss repurposed NRF2 inhibitors with their potential mechanisms and provide new insights to develop selective NRF2 inhibitors.

• Journal of the Korean Society of Tobacco Science
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• v.14 no.1
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• pp.12-23
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• 1992

This experiment was conducted to determine the optimum dosage of gamma rays for inducing artificial mutation of several mutant characters in the flue-cured tobacco. 1) In Hicks and BY 104, the gammarays irradiation has no significantly different effect on seed germination from the control. However, the average dosage for 50% growth inhibition was 25-30kr for all the varieties tested, which inhibition 46-52% and 43-57% of the seedling growths for Hicks and BY 104, respectively. 2) A mutant line 83H-5 was selected from Hicks by irradiation gamma ray at the level of 30kr. It has white flower, more resistance to bacterial wilt, Pssudomonas solanacearum, lower plant and stalk height, narrower leaf width, larger leaf shape index(lento width) and later days to flower when compared with the original variety Hicks. 3) White flower was recessive to pink flower in F, and Br (F1 X Hicks) progenies. F2 population of the cross gave segregation ratio of 3 pink flower:1 white flower, and B, (F1 X 83H-5) Population gave 1:1 ratio. Results showed that the white flower character is governed by a single recessive gene.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.2
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• pp.1155-1157
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• 2013

Cancer is a highly complex medical problem with ramifications for public health throughout the world. Most studies have mainly focused on change in the nuclei as being aetiologically responsible. Few have examined the relationship between the cytoplasm and cancer, despite the fact that research has indicated that the cytoplasmic environment is an important factor for cellular differentiation and that the genetic information provided by the nucleus is entirely dependent on this environment for its expression. Gene mutations may be the result, rather than the cause of carcinogenesis. We submit a new concept - "short base sequences" (50-500 bps, including DNA or RNA sequences) in the cytoplasm which could play an important role in carcinogenesis. This is a new theory to explain the origin of the cancer.

• BMB Reports
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• v.39 no.6
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• pp.766-773
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• 2006

Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The underlying molecular alteration consists of a CGG-repeat amplification within the FMR-1 gene. The phenotype is only apparent once a threshold in the number of repeats has been exceeded (full mutation). The aim of this study was to characterize the FMR-1 CGG-repeat status in Argentine patients exhibiting mental retardation. A total of 330 blood samples from patients were analyzed by PCR and Southern blot analysis. Initially, DNA from 78 affected individuals were studied by PCR. Since this method is unable to detect high molecular weight alleles, however, we undertook a second approach using the Southern blotting technique to analyze the CGG repeat number and methylation status. Southern blot analysis showed an altered pattern in 14 out of 240 (6%) unrelated patients, with half of them presenting a mosaic pattern. Eight out of 17 families (47%) showed a (suggest deleting highlight). The characteristic FXS pattern was identified in 8/17 families (47%), and in 4 of these families 25% of the individuals presented with a mosaic model. The expansion from pre-mutation to full mutation was shown to occur both at the pre and post zygotic levels. The detection of FXS mutations has allowed us to offer more informed genetic counseling, prenatal diagnosis and reliable patient follow-up.