• Journal of Genetic Medicine
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• 제16권1호
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• pp.27-30
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• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• BMB Reports
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• 제49권2호
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• pp.71-72
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• 2016

Focal cortical dysplasia type II (FCDII) is a focal malformation of the developing cerebral cortex and the major cause of intractable epilepsy. However, since the molecular genetic etiology of FCD has remained enigmatic, the effective therapeutic target for this condition has remained poorly understood. Our recent study on FCD utilizing various deep sequencing platforms identified somatic mutations in MTOR (existing as low as 1% allelic frequency) only in the affected brain tissues. We observed that these mutations induced hyperactivation of the mTOR kinase. In addition, focal cortical expression of mutant MTOR using in utero electroporation in mice, recapitulated the neuropathological features of FCDII, such as migration defect, cytomegalic neuron and spontaneous seizures. Furthermore, seizures and dysmorphic neurons were rescued by the administration of mTOR inhibitor, rapamycin. This study provides the first evidence that brain somatic activating mutations in MTOR cause FCD, and suggests the potential drug target for intractable epilepsy in FCD patients.

• 대한전기학회:학술대회논문집
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• 대한전기학회 1998년도 하계학술대회 논문집 A
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• pp.116-118
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• 1998

This paper describes a basic structure, analysis of characteristics and test method for high speed axial-gap BLDC motor. The newly designed axial-gap BLDC motor has 2-stator disks with 3-rotor disks and is easy to increase power capacity by increasing the numbers of stator/rotor disks. For high speed operating, the rotor is composed of light and strong strength material and has several separated magnets to reduce stress concentraction by centrifugal force.

• Journal of Korean Neurosurgical Society
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• 제61권3호
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• pp.333-342
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• 2018

Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.

• Animal Bioscience
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• 제36권7호
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• pp.991-1002
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• 2023

Objective: This study aimed to elucidate the underlying gene regions responsible for productive, phenotypic or adaptive traits in different ecological types of Tibetan sheep and the discovery of important genes encoding valuable traits. Methods: We used whole-genome resequencing to explore the genetic relationships, phylogenetic tree, and population genetic structure analysis. In addition, we identified 28 representative Tibetan sheep single-nucleotide polymorphisms (SNPs) and genomic selective sweep regions with different traits in Tibetan sheep by fixation index (Fst) and the nucleotide diversity (θπ) ratio. Results: The genetic relationships analysis showed that each breed partitioned into its own clades and had close genetic relationships. We also identified many potential breed-specific selective sweep regions, including genes associated with hypoxic adaptability (MTOR, TRHDE, PDK1, PTPN9, TMTC2, SOX9, EPAS1, PDGFD, SOCS3, TGFBR3), coat color (MITF, MC1R, ERCC2, TCF25, ITCH, TYR, RALY, KIT), wool traits (COL4A2, ERC2, NOTCH2, ROCK1, FGF5, SOX9), and horn phenotypes (RXFP2). In particular, a horn-related gene, RXFP2, showed the four most significantly associated SNP loci (g. 29481646 A>G, g. 29469024 T>C, g. 29462010 C>T, g. 29461968 C>T) and haplotypes. Conclusion: This finding demonstrates the potential for genetic markers in future molecular breeding programs to improve selection for horn phenotypes. The results will facilitate the understanding of the genetic basis of production and adaptive unique traits in Chinese indigenous Tibetan sheep taxa and offer a reference for the molecular breeding of Tibetan sheep.

• 한국엔터테인먼트산업학회논문지
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• 제15권7호
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• pp.225-233
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• 2021

본 연구는 정상인을 대상으로 건강을 위한 유산소 능력과 관계가 깊은 하지에 혈류제한 유산소 훈련을 시행함으로써 하지 근활성도와 운동신경원을 정량적으로 비교·분석하여 효과적인 혈류제한 운동프로그램의 효용성을 제시하는 기초자료를 제공하고자 한다. 압력 정도가 140 mmHg으로 혈류제한하여 트레드밀 위에서 유산소 운동을 적용한 집단 10명을 실험군I, 트레드밀 위에서 유산소 운동만 적용한 집단을 11명을 대조군으로 각각 무작위 배치한 후, 트레드밀에서 4주간, 주 3회, 1일 1회, 1회 30분간 중재 프로그램을 시행하였다. 중재 전 표면근전도를 활용하여 근활성도와 운동신경원을 측정하여 분석하였다. 연구 결과는 실험군I의 집단 내 전후 비교에서 넙다리곧은근, 넙다리두갈래근, 앞정강근 및 장딴지근의 근활성도가 유의하게 증가하였다(p<.001). 대조군의 집단 내 전후 비교에서는 넙다리곧은근, 넙다리두갈래근, 앞정강근 및 장딴지근의 근활성도가 유의하게 증가하였다(p<.001). 집단 간 변화 비교에서는 넙다리곧은근의 활성도가 유의한 차이가 있었다(p<.05). 하지 혈류제한과 병행하여 유산소운동을 접목하는 것은 엘리트선수 육성과 관절이 약한 노인 등 재활 트레이닝에 기능적인 활동을 회복시킬 수 있는 부상방지 운동프로그램 등으로 발전시킬 수 있을 것이며, 향후 연구에서 이러한 결과를 바탕으로 하여 정상인이 아닌 대상의 영역을 확대하고, 압력강도에 따른 다각적인 연구들이 필요할 것으로 사료된다.