• Title/Summary/Keyword: FLCN

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A Case of Primary Spontaneous Pneumothorax with a Three Nucleotide Deletion Mutation of the FLCN Gene (FLCN 유전자의 삼염기 결손 돌연변이를 동반한 일차성 자발성 기흉 1예)

  • Park, Geon;Seo, Hong-Joo;Jang, Sook-Jin;Shin, Bong-Seok;Hong, Ran;Lee, Seog-Ki
    • Journal of Chest Surgery
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    • v.43 no.6
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    • pp.824-828
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    • 2010
  • The cause of primary spontaneous pneumothorax (PSP) is obvious. Recently, the FLCN mutation was suggested to be a causal factor in PSP. A 47-year-old Korean male patient with chief complaint of repetitive PSP had numerous emphysematous bullae and multiple large cysts based upon high resolution computer tomography. Here we report a case of PSP with an FLCN c.468_470delTTC mutation.

Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

  • Kim, Kyung Soo;Choi, Hang Jun;Jang, Woori;Chae, Hyojin;Kim, Myungshin;Moon, Seok Whan
    • Journal of Chest Surgery
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    • v.50 no.5
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    • pp.386-390
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    • 2017
  • $Birt-Hogg-Dub{\acute{e}}$ syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: $p.(Arg379^*)$ in FLCN.

A Study of forming limit on rotational incremental forming of magnesium alloy sheet (회전 인크리멘탈 성형을 이용한 마그네슘 합금 판재의 성형한계 연구)

  • Park, J.K.;Bae, M.K.;You, B.S.;Kim, Y.S.
    • Proceedings of the Korean Society for Technology of Plasticity Conference
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    • 2008.10a
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    • pp.456-461
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    • 2008
  • Being a lightweight material, magnesium is increasingly employed in automotive parts. However, because of its hexagonal closed-packed (HCP) crystal structure, in which only the basal plane can move, the magnesium alloy sheets show low ductility and formability at room temperature. Thus the press forming of magnesium alloy sheets has been performed at elevated temperature within range of $200^{\circ}C{\sim}250^{\circ}C$. However, we confirmed that using rotational incremental forming magnesium alloy sheets were formed without any heating at previous study. In this study, at the forming of square cup using rotational incremental sheet forming, the strain distributions were obtained and it was compared with forming limit curve at neck (FLCN). Also, forming limit curves at fracture (FLCF) of magnesium alloy sheets were obtained at elevated temperature and it was compared with the strain distribution of square cup of magnesium alloy sheet. In this study, we confirmed that conventional forming limit curves can not predict rotational incremental forming.

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Reconstruction and Exploratory Analysis of mTORC1 Signaling Pathway and Its Applications to Various Diseases Using Network-Based Approach

  • Buddham, Richa;Chauhan, Sweety;Narad, Priyanka;Mathur, Puniti
    • Journal of Microbiology and Biotechnology
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    • v.32 no.3
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    • pp.365-377
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    • 2022
  • Mammalian target of rapamycin (mTOR) is a serine-threonine kinase member of the cellular phosphatidylinositol 3-kinase (PI3K) pathway, which is involved in multiple biological functions by transcriptional and translational control. mTOR is a downstream mediator in the PI3K/Akt signaling pathway and plays a critical role in cell survival. In cancer, this pathway can be activated by membrane receptors, including the HER (or ErbB) family of growth factor receptors, the insulin-like growth factor receptor, and the estrogen receptor. In the present work, we congregated an electronic network of mTORC1 built on an assembly of data using natural language processing, consisting of 470 edges (activations/interactions and/or inhibitions) and 206 nodes representing genes/proteins, using the Cytoscape 3.6.0 editor and its plugins for analysis. The experimental design included the extraction of gene expression data related to five distinct types of cancers, namely, pancreatic ductal adenocarcinoma, hepatic cirrhosis, cervical cancer, glioblastoma, and anaplastic thyroid cancer from Gene Expression Omnibus (NCBI GEO) followed by pre-processing and normalization of the data using R & Bioconductor. ExprEssence plugin was used for network condensation to identify differentially expressed genes across the gene expression samples. Gene Ontology (GO) analysis was performed to find out the over-represented GO terms in the network. In addition, pathway enrichment and functional module analysis of the protein-protein interaction (PPI) network were also conducted. Our results indicated NOTCH1, NOTCH3, FLCN, SOD1, SOD2, NF1, and TLR4 as upregulated proteins in different cancer types highlighting their role in cancer progression. The MCODE analysis identified gene clusters for each cancer type with MYC, PCNA, PARP1, IDH1, FGF10, PTEN, and CCND1 as hub genes with high connectivity. MYC for cervical cancer, IDH1 for hepatic cirrhosis, MGMT for glioblastoma and CCND1 for anaplastic thyroid cancer were identified as genes with prognostic importance using survival analysis.