• Asian Pacific Journal of Cancer Prevention
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• 제14권9호
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• pp.5449-5454
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• 2013

Background: A large variety of familiar and non-familiar lung carcinomas (LC) are caused by long term exposure to chemical carcinogens that are present in tobacco smoke. We aimed to investigate the prevalence of 5 thrombophilic germ-line mutations in patients with lung carcinomas. Materials and Methods:A total of 52 LC patients and 212 healthy controls from same population were analyzed for FV Leiden, factor V H1299R (R2), PAI-1, MTHFR C677T, MTHFR A1298C, ACE I/D, and Apo E genes and compared. Results: Overall, heterozygous and/or homozygous point mutations in FV Leiden Apo E2, PAI-1 and MTHFR C677T genes were associated with LC in the current cohort. There was no meaningful association between LC and ACE I/D gene markers. Conclusions: The current results showed that LC is related to combined thrombophilic gene mutations and individuals with homozygosity of 4G in PAI-1 and MTHFR C677T genes and heterozygosity of FV Leiden, Apo E4 genes have a germ-line risk for LC tumorigenesis.

• Fisheries and Aquatic Sciences
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• 제19권2호
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• pp.9.1-9.7
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• 2016

This study was conducted to identify the general conditions for the isolation and in vitro culture of ovary-derived cells in rockfish (Sebastes schlegeli). The effects of three different enzymes on cell retrieval from ovarian tissues were evaluated first, and then the ovary-dissociated cells were cultured under various culture conditions, with varying basal media and culture temperatures, addition of growth factors, and/or culture types. We found that collagenase type I treatment was effective for cell isolation from ovarian tissues. From a total of 42 trials to evaluate the effects of basal media and culture temperatures on cell culture of ovary-dissociated cells, we observed that Leibovitz's L15 medium was more supportive than Dulbecco's modified Eagle's medium for culture, and the cells could grow at all three temperatures tested, 15, 20, and $25^{\circ}C$, at least up to passage 2. However, growth factor addition did not improve cell growth. Introduction of suspension culture after monolayer culture expanded the culture period significantly more than did monolayer culture alone. Our results may provide a basis for developing an in vitro system for S. schlegeli germline cell culture, which will ultimately lead to improvement of the species.

• 대한골관절종양학회지
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• 제20권2호
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• pp.99-103
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• 2014

Li-Fraumeni syndrome은 소아나 청장년층에서 다양한 형태의 종양을 유발할 수 있는 상염색체 우성 유전 질병이다. 이는 종양억제 유전자인 TP53 의 변형에 의해 발생하게 된다. 이 질환은 매우 드물며, 진단되지 못하고 간과되는 경향이 많다. 이에 저자들은 17세, 폐선암을 동반한 근위 경골 골육종 환자에서 가족력을 통해 이 질환을 의심하고, 유전자 검사를 통하여 확진한 증례를 보고하고자 한다.

• 한국가금학회:학술대회논문집
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• 한국가금학회 2003년도 제20차 정기총회 및 학술발표회
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• pp.71-72
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• 2003

최근 생쥐에서 정원세포를 이용한 생식선 카이메라의 생산이 보고되었다. 정원세포의 경우 성축으로부터 세포를 다량으로 얻기가 쉬우며, 수용체 정소 내로 이식될 경우 생식선 카이메라의 생산능력이 있어서 이전의 배아줄기 세포를 이용할 때의 문제점을 효율적으로 해결할 수 있다. 또한 유전자가 도입된 정원세포의 이식에 의한 수용체 정소 내에서의 정자형성의 보고는 정원세포를 이용한 형질전환 동물의 생산 시스템으로의 개발 가능성을 보여준다. 본 실험에서는 닭에서 기존에 이용되어 왔던 형질전환 동물 생산 시스템의 문제점을 극복하고자 주령별 정원세포의 분리 및 이식을 통하여 조류에서 정원세포의 이식방법을 확립하고 생식선 카이메라 생산효율을 증진시키기 위하여 불임제인 부설판 등을 이용한 불임화 기술을 확립하여, 결국 조류에서의 형질전환 조류 생산 시스템으로서의 개발가능성을 제시하고자 한다.

• Molecules and Cells
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• 제43권2호
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• pp.145-152
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• 2020

RUNX1 plays an important role in the regulation of normal hematopoiesis. RUNX1 mutations are frequently found and have been intensively studied in hematological malignancies. Germline mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). Somatic mutations of RUNX1 are observed in various types of hematological malignancies, such as AML, acute lymphoblastic leukemia (ALL), myelodysplastic syndromes (MDS), myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), and congenital bone marrow failure (CBMF). Here, we systematically review the clinical and molecular characteristics of RUNX1 mutations, the mechanisms of pathogenesis caused by RUNX1 mutations, and potential therapeutic strategies to target RUNX1-mutated cases of hematological malignancies.

• Journal of Korean Neurosurgical Society
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• 제62권3호
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• pp.272-287
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• 2019

The mechanistic target of rapamycin (mTOR) pathway coordinates the metabolic activity of eukaryotic cells through environmental signals, including nutrients, energy, growth factors, and oxygen. In the nervous system, the mTOR pathway regulates fundamental biological processes associated with neural development and neurodegeneration. Intriguingly, genes that constitute the mTOR pathway have been found to be germline and somatic mutation from patients with various epileptic disorders. Hyperactivation of the mTOR pathway due to said mutations has garnered increasing attention as culprits of these conditions : somatic mutations, in particular, in epileptic foci have recently been identified as a major genetic cause of intractable focal epilepsy, such as focal cortical dysplasia. Meanwhile, epilepsy models with aberrant activation of the mTOR pathway have helped elucidate the role of the mTOR pathway in epileptogenesis, and evidence from epilepsy models of human mutations recapitulating the features of epileptic patients has indicated that mTOR inhibitors may be of use in treating epilepsy associated with mutations in mTOR pathway genes. Here, we review recent advances in the molecular and genetic understanding of mTOR signaling in epileptic disorders. In particular, we focus on the development of and limitations to therapies targeting the mTOR pathway to treat epileptic seizures. We also discuss future perspectives on mTOR inhibition therapies and special diagnostic methods for intractable epilepsies caused by brain somatic mutations.

• Molecules and Cells
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• 제45권11호
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• pp.820-832
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• 2022

As a potential candidate to generate an everlasting cell source to treat various diseases, embryonic stem cells are regarded as a promising therapeutic tool in the regenerative medicine field. Cohesin, a multi-functional complex that controls various cellular activities, plays roles not only in organizing chromosome dynamics but also in controlling transcriptional activities related to self-renewal and differentiation of stem cells. Here, we report a novel role of the α-kleisin subunits of cohesin (RAD21 and REC8) in the maintenance of the balance between these two stem-cell processes. By knocking down REC8, RAD21, or the non-kleisin cohesin subunit SMC3 in mouse embryonic stem cells, we show that reduction in cohesin level impairs their self-renewal. Interestingly, the transcriptomic analysis revealed that knocking down each cohesin subunit enables the differentiation of embryonic stem cells into specific lineages. Specifically, embryonic stem cells in which cohesin subunit RAD21 were knocked down differentiated into cells expressing neural alongside germline lineage markers. Thus, we conclude that cohesin appears to control the fate determination of embryonic stem cells.

• 한국발생생물학회지:발생과생식
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• 제27권1호
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• pp.39-46
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• 2023

Pumilio (Pum) is an RNA-binding protein and translational repressor important to diverse biological processes. In the Drosophila ovary, Pum is expressed in female germline stem cells (GSCs), wherein it acts as an intrinsic stem cell maintenance factor via repressing target mRNAs that are as yet mostly unknown. Pum recognizes the Pum binding sequence (PBS) in the mRNA 3'UTR through its C-terminus Puf domain. Translational repression is mediated through its N-terminal domain, but the molecular mechanism remains largely unknown. We previously showed that Bag-of-marbles, a critical differentiation-promoting factor of female GSCs, physically interacts with the N-terminus of Pum. We further showed that this interaction is critical to Bam inhibition of Pum repressive action in cultured cells, but the physiological relevance was not addressed. Here we design an in vivo GFP translational reporter bearing the PBS in its 3'UTR and show that GFP expression is reduced in cells wherein Pum is known to be active. Furthermore, we demonstrate in pum mutant ovary that this GFP repression requires Pum, and also that the sensor faithfully monitors Pum activity. Finally, we show that forced expression of Bam inhibits Pum-mediated repression, validating that Bam inhibits Pum activity in vivo.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제50권1호
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• pp.49-55
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• 2024

Neurofibromatosis type 1 (NF1) is an autosomally dominant tumor suppressor syndrome and multisystem disease. Central giant-cell granulomas (CGCGs) can be seen in patients with NF1. A 21-year-old female was diagnosed with two CGCGs, one in the mandible and then one in the maxilla, in a 7-year period. Increased incidence of CGCGs in NF1 patients was thought to be caused by an underlying susceptibility to developing CGCG-like lesions in qualitatively abnormal bone, such as fibrous dysplasia. However, germline and somatic truncating second-hit mutations in the NF1 gene have been detected in NF1 patients with CGCGs, validating that they are NF1-associated lesions. Oral manifestations in patients with NF1 are very common. Knowledge of these manifestations and the genetic link between NF1 and CGCGs will enhance early detection and enable optimal patient care.

• IMMUNE NETWORK
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• 제23권1호
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• pp.8.1-8.13
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• 2023

CD8⁺ T cells are activated by TCRs that recognize specific cognate Ags, while NK-cell activation is regulated by a balance between signals from germline-encoded activating and inhibitory NK receptors. Through these different processes of Ag recognition, CD8⁺ T cells and NK cells play distinct roles as adaptive and innate immune cells, respectively. However, some human CD8⁺ T cells have been found to express activating or inhibitory NK receptors. CD8⁺ T-cell populations expressing NK receptors straddle the innate-adaptive boundary with their innate-like features. Recent breakthrough technical advances in multi-omics analysis have enabled elucidation of the unique immunologic characteristics of these populations. However, studies have not yet fully clarified the heterogeneity and immunological characteristics of each CD8⁺ T-cell population expressing NK receptors. Here we aimed to review the current knowledge of various CD8⁺ T-cell populations expressing NK receptors, and to pave the way for delineating the landscape and identifying the various roles of these T-cell populations.