https://ir.ymlib.yonsei.ac.kr/handle/22282913/168802 2026-04-30T17:26:58Z 2026-04-30T17:26:58Z Cho, Sohee Shin, Kyoung-Jin Lee, Soong Deok https://ir.ymlib.yonsei.ac.kr/handle/22282913/211722 2026-04-03T00:32:15Z 2026-06-01T00:00:00Z

Title: Empirical evaluation of 56 microhaplotypes with cryptic variation for kinship testing in a Korean population Authors: Cho, Sohee; Shin, Kyoung-Jin; Lee, Soong Deok Abstract: Microhaplotypes (microhaps), composed of two or more SNPs within short DNA segments, have emerged as promising markers for forensic kinship testing, offering advantages over conventional STRs. However, their resolution for distant relationships remains limited, prompting efforts to improve panel performance. This study evaluated a 56-locus microhap panel in a Korean population and examined the effects of incorporating cryptic variations adjacent to established microhap loci, identified through massively parallel sequencing. Using data from 281 individuals across 53 families, the panel demonstrated superior discrimination in parent-child, full-siblings, and second-degree relatives pairs compared with STRs, while resolution for third-degree relatives remained challenging. A total of 72 cryptic variations were detected across 38 loci, increasing the mean effective allele number (Ae) from 3.288 to 3.476 and generating 23 novel haplotypes. Incorporating these variants led to modest but consistent improvements in likelihood ratio distributions across all kinship categories. These findings highlight that leveraging cryptic variations can enhance microhap-based kinship inference without panel redesign, providing a cost-effective and scalable strategy for improving forensic kinship analysis. Further studies in larger and multi-ethnic populations will be essential to validate and optimize this approach for broader forensic applications. © 2026 The Authors

2026-06-01T00:00:00Z Kang, Chan Woo Hong, Zhen-Yu Oh, Ju Hun Farh, Mohamed El-Agamy Wang, Eun Kyung Lee, Soohyun Kang, Un Ho Nam, Jung Ho Lee, Yang Jong Shin, Hyeju Kim, Ye Bin Jeon, Hyeonuk Jeong, Jae Woong Kim, Doyeon Kim, Jung Seung Hong, Seung Soo Park, Jong-Pil Cho, Hyo Je Fang, Sungsoon Kim, Hyongbum Henry Cho, Arthur Lim, Byung Kook Sohn, Insuk Ku, Cheol Ryong 홍승수 구철룡 https://ir.ymlib.yonsei.ac.kr/handle/22282913/211492 2026-03-25T07:51:52Z 2026-02-01T00:00:00Z

Title: Atypical protein kinase C activation drives intestinal glucose excretion in diabetes mellitus Authors: Kang, Chan Woo; Hong, Zhen-Yu; Oh, Ju Hun; Farh, Mohamed El-Agamy; Wang, Eun Kyung; Lee, Soohyun; Kang, Un Ho; Nam, Jung Ho; Lee, Yang Jong; Shin, Hyeju; Kim, Ye Bin; Jeon, Hyeonuk; Jeong, Jae Woong; Kim, Doyeon; Kim, Jung Seung; Hong, Seung Soo; Park, Jong-Pil; Cho, Hyo Je; Fang, Sungsoon; Kim, Hyongbum Henry; Cho, Arthur; Lim, Byung Kook; Sohn, Insuk; Ku, Cheol Ryong; 홍승수; 구철룡 Abstract: Intestinal glucose excretion, defined as increased intestinal serum glucose uptake and secretion into the lumen, influences bariatric surgery-associated glycaemic control. Here, we investigate molecular mechanisms that activate intestinal glucose excretion. We evaluate altered transcriptomes in variable intestinal glucose excretion models and big data-based drug discovery systems. We show that protein kinase C (PKC) activation mimics transcriptome alterations observed during intestinal glucose excretion. Among PKC subfamilies, atypical PKC (aPKC) facilitates glucose transporter 1 (GLUT1)-mediated intestinal glucose excretion without inducing oncogenic proliferation. Intestinal aPKC activation via transposon expression vector induces serum glucose uptake into intestinal tissues and excretion into the lumen. Prostratin, a non-tumorigenic phorbol ester, activates aPKC and induces a similar effect on intestinal glucose excretion. We identify the prostratin and aPKC/GLUT1 signalling pathways as putative targets for treating diabetes, providing insights into the future development of antidiabetic and weight-loss drugs.

2026-02-01T00:00:00Z 이보현 Park, Jong Pil https://ir.ymlib.yonsei.ac.kr/handle/22282913/210398 2026-01-30T07:03:08Z 2025-11-01T00:00:00Z

Title: Sudden Unexpected Death from Ischemic Colitis Following Post-traumatic Hospitalization: A Case Report Authors: 이보현; Park, Jong Pil Abstract: Ischemic colitis (IC) is a serious gastrointestinal condition that can be fatal in older adults with multiple health problems. We report the case of an 81-year-old man who developed IC after a long period of hospitalization for multiple traumatic injuries. Factors such as limited mobility, impaired bowel function, advanced age, cardiovascular/metabolic disorders, and side effects of medications collectively increased vulnerability to colonic ischemia. Despite routine monitoring and stable vital signs, the patient’s condition suddenly deteriorated, resulting in death. Autopsy revealed transmural hemorrhagic necrosis of the sigmoid colon and pan-peritonitis, illustrating how IC can progress silently. Clinicians should be aware of gastrointestinal complications in bedridden older patients or those taking drugs that affect bowel movements. From a forensic perspective, this case demonstrates that death may be linked to the downstream effects of trauma rather than to the injuries themselves, emphasizing the importance of careful postmortem examination. Preventive care, close monitoring of bowel function, and early recognition of warning signs are essential for reducing the risk of fatal outcomes in high-risk populations.

2025-11-01T00:00:00Z Min, Ji Sang Kim, Tae-im Shin, Kyoung-Jin Choi, Jinseok Stulting, R. Doyle Kim, Eung Kweon https://ir.ymlib.yonsei.ac.kr/handle/22282913/208196 2025-11-04T05:28:04Z 2025-06-01T00:00:00Z

Title: A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2 Authors: Min, Ji Sang; Kim, Tae-im; Shin, Kyoung-Jin; Choi, Jinseok; Stulting, R. Doyle; Kim, Eung Kweon Abstract: PurposeTo report the first case of granular corneal dystrophy type 2 (GCD2) caused by a de novo p.(Arg124His) mutation that was confirmed by paternity testing in a 13-year-old male patient referred for the evaluation of corneal opacities in the left eye.Study design: Clinical case reportPurposeTo report the first case of granular corneal dystrophy type 2 (GCD2) caused by a de novo p.(Arg124His) mutation that was confirmed by paternity testing in a 13-year-old male patient referred for the evaluation of corneal opacities in the left eye.Study design: Clinical case reportMethodsThe p.(Arg124His) mutation was identified using direct Sanger sequencing of the entire TGFBI gene. The patient's parents and sister also underwent ophthalmological examination and direct Sanger sequencing of the entire TGFBI gene.ResultsNo abnormal findings on ophthalmic examination or genetic mutations were found in the parents. In addition, the patient's biological parents were confirmed using DNA paternity testing.ConclusionA negative family history of GCD2 and the absence of GCD2 in the parents of patients seeking refractive surgery are not sufficient to exclude a diagnosis of GCD2 because some cases of GCD2 arise from de novo mutations. Exclusion of GCD2 before refractive surgery requires genetic analysis for the p.(Arg124His) mutation

2025-06-01T00:00:00Z