Young Seok Ju
Publications 71
Loss of functional β cell mass is an essential feature of type 2 diabetes, and maintaining mature β cell identity is important for preserving a functional β cell mass. However, it is unclear how β cells achieve and maintain their mature identity. Here, we demonstrate a novel function of PRMT1 in maintaining mature β cell identity. Prmt1 knockout in fetal and adult β cells induced diabetes, which was aggravated by high fat diet-induced metabolic stress. Deletion of Prmt1 in adult β cells resulted...
Three-dimensional chromatin structures regulate gene expression across genome. The significance of de novo mutations (DNMs) affecting chromatin interactions in autism spectrum disorder (ASD) remains poorly understood. We generated 931 whole-genome sequences for Korean simplex families to detect DNMs and identified target genes dysregulated by noncoding DNMs via long-range chromatin interactions between regulatory elements. Notably, noncoding DNMs that affect chromatin interactions exhibited tran...
Accurate identification of real somatic variants is a primary part of cancer genome studies and precision oncology. However, artifacts introduced in various steps of sequencing obfuscate confidence in variant calling. Current computational approaches to variant filtering involve intensive interrogation of Binary Alignment Map (BAM) files and require massive computing power, data storage, and manual labor. Recently, mutational signatures associated with sequencing artifacts have been extracted by...
#1Wonsuk Choi (KAIST)H-Index: 2
#2Jun Namkung (KAIST)H-Index: 4
Last.Hail Kim (KAIST)H-Index: 20
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The originally published version of this Article contained an error in Figure 2. In panel g, the image of brown adipose tissue from SCD-fed Tph1 GKO mice (top-right) was inadvertently replaced with the equivalent image of SCD-fed WT mice (top-left) during assembly of the figure. This error has now corrected in both the PDF and HTML versions of the Article.
#1Hyung-Don Kim (KAIST)H-Index: 2
#2Seongyeol Park (KAIST)H-Index: 6
Last.Su-Hyung Park (KAIST)H-Index: 8
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1 CitationsSource
#1Jake June-Koo Lee (Harvard University)H-Index: 1
#2Seongyeol Park (KAIST)H-Index: 6
Last.Young Tae Kim (SNU: Seoul National University)H-Index: 42
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Summary Mutational processes giving rise to lung adenocarcinomas (LADCs) in non-smokers remain elusive. We analyzed 138 LADC whole genomes, including 83 cases with minimal contribution of smoking-associated mutational signature. Genomic rearrangements were not correlated with smoking-associated mutations and frequently served as driver events of smoking-signature-low LADCs. Complex genomic rearrangements, including chromothripsis and chromoplexy, generated 74% of known fusion oncogenes, includin...
2 CitationsSource
#1Eun Sook Park (Konkuk University)H-Index: 11
#2Ah Ram Lee (Konkuk University)H-Index: 5
Last.Kyun-Hwan Kim (Konkuk University)H-Index: 22
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Background & Aims Tenofovir disoproxil fumarate (TDF) is one the most potent nucleot(s)ide analogues for treating chronic hepatitis B virus (HBV) infection. Phenotypic resistance caused by genotypic resistance to TDF has not been reported. This study aimed to characterize HBV mutations that confer tenofovir resistance. Methods Two patients with viral breakthrough during treatment with TDF-containing regimens were prospectively enrolled. The gene encoding HBV reverse transcriptase was sequenced. ...
5 CitationsSource
#1Mia PetljakH-Index: 9
#2Ludmil B. Alexandrov (UCSD: University of California, San Diego)H-Index: 45
Last.Michael R. StrattonH-Index: 139
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Summary Multiple signatures of somatic mutations have been identified in cancer genomes. Exome sequences of 1,001 human cancer cell lines and 577 xenografts revealed most common mutational signatures, indicating past activity of the underlying processes, usually in appropriate cancer types. To investigate ongoing patterns of mutational-signature generation, cell lines were cultured for extended periods and subsequently DNA sequenced. Signatures of discontinued exposures, including tobacco smoke ...
15 CitationsSource
#1Serena Nik-ZainalH-Index: 39
#2Helen DaviesH-Index: 46
Last.Michael R. StrattonH-Index: 139
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In the Methods section of this Article, 'greater than' should have been 'less than' in the sentence 'Putative regions of clustered rearrangements were identified as having an average inter-rearrangement distance that was at least 10 times greater than the whole-genome average for the individual sample. '. The Article has not been corrected.