• Annals of Clinical Neurophysiology
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• v.22 no.2
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• pp.121-124
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• 2020

The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.

• Journal of the Korea Convergence Society
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• v.11 no.6
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• pp.393-400
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• 2020

This study used a three-dimensional motion analysis system for 15 elite tennis players (male 8, female7) to identify the relevance of scapula movement to shoulder pain. During the flat serve, the angular velocity and joint moment of scapula anterior/posterior tilt, downward/upward rotation, internal/external rotation were calculated and this was compared between groups. As a result, the maximum angular velocity for the anterior and posterior tilt tended to be higher in control group(CG) than in the shoulder pain group(SPG), and the maximum angular velocity for internal and external rotation in all phases except the follow-through phase was higher than that of CG. The maximum moment for the anterior and posterior tilt in the late coking phase was statistically significantly higher than that of SPG, the joint moment for the downward and upward rotation of the coking phase was statistically significantly lower than that of CG, and the moment for the internal and external rotation, the SPG was found to be lower than that of CG in the whole phases.

• Genomics & Informatics
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• v.20 no.3
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• pp.30.1-30.9
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• 2022

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

• Journal of the Korean Society of Tobacco Science
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• v.13 no.1
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• pp.69-73
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• 1991

Varietal response to cool temperature(18$^{\circ}C$) and short (8hr.)-day treatment were investigated under controlled conditions of Phytotron in the Suwon Agronomy Experiment Station. Five flue-cured and one burley tobacco varieties (Nicotiana tabacum L.) were used, and the length of treatment ranging from 8 to 32 days at 3-day intervals and also includes continuous treatment up to the plants were flowered. The days to flower decreased significantly than the no treatment when the length of treatment was 11 to 14 days for the varieties NC82, Br.21 and NC22NF, and 17 to 26 days for SPG-28, Mc.944 and TC499, respectively. And also the number of leaves decreased significantly than the no treatment when the length of treatment was 8 days for NC22NF, 11days for NC82 and Br.21, 14 days for Mc.944, and 17 days for SPG-28 and TC499, respectively. The maximum decreasing ratio of the leaf number by the cool temperature and short-day treatment were 47.7 to 58.5% for NC82, Br.21 and NC22NF, and 38.9% for Mc.944, 33.4% for SPG-28 and 29.0% for TC499, respectively.