• The Korean Journal of Physiology and Pharmacology
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• v.21 no.4
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• pp.439-447
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• 2017

Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in skeletal muscle. In this study, we report 4 unrelated Korean patients diagnosed with myotonia congenita and their clinical features. Sequence analysis of all coding regions of the patients was performed and mutation, R47W and A298T, was commonly identified. The patients commonly displayed transient muscle weakness and only one patient was diagnosed with autosomal dominant type of myotonia congenita. To investigate the pathological role of the mutation, electrophysiological analysis was also performed in HEK 293 cells transiently expressing homo-or heterodimeric mutant channels. The mutant channels displayed reduced chloride current density and altered channel gating. However, the effect of A298T on channel gating was reduced with the presence of R47W in the same allele. This analysis suggests that impaired CLC-1 channel function can cause myotonia congenita and that R47W has a protective effect on A298T in relation to channel gating. Our results provide clinical features of Korean myotonia congenita patients who have the heterozygous mutation and reveal underlying pathophyological consequences of the mutants by taking electrophysiological approach.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1919-1924
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• 2015

Polymorphisms in the region of the interleukin IL-28 gene on chromosome 19 have been related with clearance of hepatitis C virus (HCV), a major human pathogen responsible for chronic hepatitis, cirrhosis and hepatocellular carcinoma. About 3% of the world's population is infected with HCV. The long-term response to therapy is influenced by many host and viral factors, and recent evidence has indicated that some host genetic polymorphisms related to IL-28 are the most powerful predictors of virological response in patients with HCV. This study assessed frequency of the IL-28 polymorphism (rs8099917) in 50 patients (39 men and 11 women) with chronic hepatitis C using ZNA probe real time PCR new method. All patients were tested for genotype of HCV and the HCV viral load. In parallel, the levels of SGOT, SGPT and ALK enzymes were assessed. Treatment using Peg-interferon alpha with ribavirin was conducted for patients and subsequently samples were collected to detect any change in viral load or liver enzyme rates. The overall frequency of the TT allele is 74%, TG allele 20% and GG allele 6% and the percent of patients who had T allele was 84%. Clear reduction in viral load and liver enzymes was reported in patients with the T allele. Especially for genotype 1 which is relatively resistant to treatment, these alleles may have a role in this decline. In conclusion, we showed that IL-28 polymorphism rs8099917 strongly predicts virological response in HCV infection and that real-time PCR with Zip nucleic acid probes is a sensitive, specific and rapid detection method for detection of SNPs which will be essential for monitoring patients undergoing antiviral therapy.

• Journal of the korean academy of Pediatric Dentistry
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• v.26 no.3
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• pp.492-498
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• 1999

Oculodentodigital syndrome(ODD) was first reported by Lohmann in 1920 and termed by Meyer Schwicketath, which they called "dysplasia oculo-dento-digitalis" in 1957. It is somewhat rare heritable disease. ODD is generally inherited in an autosomal dominant pattern with a complex phenotype. The characteristic features are : (1) unique facial features, (2) microphthalmos, (3) syndactyly and camptodactyly of 4th and 5th fingers, (4) osseous anomalies of the middle phalanges of 5th fingers and toes, (5) enamel hypoplasia, (6) dry lusterless hair. We found several occlusal wearing and yellow discoloration of succedaneous teeth, multiple caries lesions, premature loss and pulpal involvement of primary teeth with associated enamel abnormalities caused by generalized enamel hypoplasia in a fairly constant oral finding. Occasionally partial anodontia, microdontia and cleft lip and palate can be manifested. This case, a 9-year-old female with repaired bilateral syndactyly was referred to pediatric dental clinic, Pusan National University Hospital for evaluation of severe attrition of teeth and caries lesions. She had most of the above mentioned typical manifestations of the syndrome. Dental treatment including caries control, stainless steel crown were performed.

• Journal of the Korean Data and Information Science Society
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• v.27 no.2
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• pp.429-435
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• 2016

Heritability estimates for daily gain (g), backfat thickness (mm), days to 90kg (day), loin eye depth (mm) and meat percent (%) were 0.40, 0.44, 0.40, 0.25 and 0.48, respectively. Estimates of correlation between breeding value and rank for meat productivity traits by model 1 and 2 were 0.995 1.000 and 0.991 1.000, respectively and highly significant (p< 0.0001), and they were almost identical to the breeding values estimated by different farms. When top 5% and top 10% animals were selected by meat productive traits at different farms, markedly different animals were selected by farms since the selected improvement traits in each farm maintaining closed herds were different. Therefore, it seems to be desirable that superior pigs should be selected after the establishment of evaluation system for genetic performance at national level using the integrated data obtained from various farms.

• Neonatal Medicine
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• v.25 no.1
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• pp.49-52
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• 2018

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.

• BMB Reports
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• v.36 no.1
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• pp.1-11
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• 2003

The causative role of polycyclic aromatic hydrocarbons (PAH) in human carcinogenesis is undisputed. Measurements of PAH-DNA adduct levels in easily accessible white blood cells therefore represent useful early endpoints in exposure intervention of chemoprevention studies. The successful applicability of DNA adducts as early endpoints depends on several criteria:i.adduct levels in easily accessible surrogate tissues should reflect adduct levels in target-tissues, ii. toxicokinetics and the temporal relevance should be properly defined.iii. sources of inter- and intra-individual variability must be known and controllable, and finally iv. adduct analyses must have advantages as compared to other markers of PAH-exposure. In general, higher DNA adduct levels or a higher proportion of subjects with detectable DNA adduct levels were found in exposed individuals as compared with non-exposed subjects, but saturation may occur at high exposures. Furthermore, DNA adduct levels varied according to changes in exposure, for example smoking cessation resulted in lower DNA adduct levels and adduct levels paralleled seasonal variations of air-pollution. Intra-individual variation during continuous exposure was low over a short period of time (weeks), but varied significantly when longer time periods (months) were investigated. Inter-individual variation is currently only partly explained by genetic polymorphisms in genes involved in PAH-metabolism and deserves further investigation. DNA adduct measurement may have three advantages over traditional exposure assessment: i. they can smooth the extreme variability in exposure which is typical for environmental toxicants and may integrate exposure over a longer period of time. Therefore, DNA adduct assessment may reduce the monitoring effort. ii. Biological monitoring of DNA adducts accounts for all exposure routes. iii. DNA adducts may account for inter-individual differences in uptake, elimination, distribution, metabolism and repair amongst exposed individuals. In conclusion, there is now a sufficiently large scientific basis to justify the application of DNA adduct measurement as biomarkers in exposure assessment and intervention studies. Their use in risk-assessment, however, requires further investigation.

• Journal of Veterinary Clinics
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• v.31 no.2
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• pp.129-132
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• 2014

A 4-year-old, intact female Border Collie was presented for evaluation of hearing impairment. Clinical, neurological, otoscopic and magnetic resonance imaging examinations were carried out to determine the cause of hearing loss, but no remarkable change was found. Then, brainstem auditory-evoked response test was performed to assess hearing loss, and the dog had a bilateral sensorineural deafness was revealed. Since possible causes of acquired hearing loss were ruled out by several examinations and history taking, bilateral later-onset deafness was suspected to be genetic and not congenital. This report suggested the possibility that dogs had inherited later-onset sensorineural deafness.

• Journal of Microbiology and Biotechnology
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• v.19 no.8
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• pp.749-759
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• 2009

A survey of Bacillus thuringiensis (Berliner) strains isolated from Spanish citrus orchards has been performed, and the strains were tested for insecticidal activity against the Mediterranean fruit fly Ceratitis capitata (Wiedemann), a key citrus pest in Spain. From a total of 150 environmental samples, 376 isolates were selected, recording a total B. thuringiensis index of 0.52. The collection was characterized by means of phase-contrast microscopy, SDS-PAGE, and PCR analysis with primer pairs detecting toxin genes cry1, cry2, cry3, cry4, cry5, cry7, cry8, cry9, cry10, cry11, cry12, cry14, cry17, cry19, cry21, cry27, cry39, cry44, cyt1, and cyt2. Diverse crystal inclusion morphologies were identified: bipyramidal (45%), round (40%), adhered to the spore (7%), small (5%), and irregular (3%). SDS-PAGE of spore-crystal preparations revealed 39 different electrophoresis patterns. All primer pairs used in PCR tests gave positive amplifications in strains of our collection, except for primers for detection of cry3, cry19, cry39, or cry44 genes. Strains containing cry1, cry2, cry4, and cry27 genes were the most abundant (48.7%, 46%, 11.2%, and 8.2% of the strains, respectively). Ten different genetic profiles were found, although a total of 109 strains did not amplify with the set of primers used. Screening for toxicity against C. capitata adults was performed using both spore-crystal and soluble fractions. Mortality levels were less than 30%. We have developed a large and diverse B. thuringiensis strain collection with huge potential to control several agricultural pests; however, further research is needed to find out Bt strains active against C. capitata.

• Asian-Australasian Journal of Animal Sciences
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• v.14 no.1
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• pp.82-87
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• 2001

A feeding trial was conducted to evaluate the effects of replacing fish meal (FM) with ensiled shrimp by-product (ESB) in a cassava root meal and rice bran-based diet on the performance and carcass characteristics of growing pigs. Thirty six crossbred (Large White$\times$Mong Cai) pigs, with an average initial BW of 19.4 kg, were randomly allocated to one of three different dietary treatments in which the crude protein of the FM was replaced with 0, 50 or 100% ESB. The animals were fed restrictedly and at the end of the experiment at a BW of about 90 kg, 6 representative animals in each treatment group were slaughtered for carcass quality evaluation. Animal growth performance and daily feed intake were significantly reduced (p<0.05) by the inclusion of shrimp by-products in the diets, whereas feed conversion ratios and carcass measurements were not significantly affected (p>0.05). Daily weight gains of the pigs fed the 100% FM diet and 50% ESB diet were significantly (p<0.05) higher than those of pigs fed the 100% ESB diet. In conclusion, from an economical as well as performance point of view, ESB can replace 50% of the crude protein of FM in cassava root meal and rice bran-based diets for growing pigs with a low genetic growth potential.

• Journal of Microbiology and Biotechnology
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• v.19 no.3
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• pp.250-256
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• 2009

Acinetobacter strain $KNF2022^T$ was isolated from tobacco plant roots during the screening of antiviral substances having inhibitory effects on Tobacco mosaic virus (TMV) and examined by phenotypic, chemotaxonomic, and genetic characterization. It was a nonmotile, Gram-negative bacterium. This strain contained Q-9 as the main respiratory quinone. The major cellular fatty acids of the isolate were 16:0, 18:1 w9c, and 16:1 w7c/15 iso 2OH. The DNA base composition was 44 mol%. Phylogenetic analysis based on the 16S rRNA sequence revealed that the isolate formed an evolutionary lineage distinct from other Acinetobacter species. Based on the evaluation of morphologic, physiologic, and chemotaxonomic characteristics, DNA-DNA hybridization values, and 16S rRNA sequence comparison, we propose the new species Acinetobacter antiviralis sp. nov., the type strain of which is $KNF2022^T$ (=KCTC $0699BP^T$).