https://scholar.korea.ac.kr/handle/2021.sw.korea/2523 2026-04-05T16:17:41Z https://scholar.korea.ac.kr/handle/2021.sw.korea/267936 Title: Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics Authors: Lee, Hyeji; Kim, Wooheon; Kwon, Nahyeon; Kim, Chanhee; Kim, Sungmin; An, Joon-Yong Abstract: Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health and disease. These initiatives, which include the UK Biobank, All of Us Research Program, Singapore’s PRECISE, Biobank Japan, and the National Project of Bio-Big Data of Korea, are generating unprecedented volumes of high-resolution genomic data integrated with comprehensive phenotypic, environmental, and clinical information. This review examines the methodologies, contributions, and challenges of major WGS-based national genome projects worldwide. We first discuss the landscape of national biobank initiatives, highlighting their distinct approaches to data collection, participant recruitment, and phenotype characterization. We then introduce recent technological advances that enable efficient processing and analysis of large-scale WGS data, including improvements in variant calling algorithms, innovative methods for creating multi-sample VCFs, optimized data storage formats, and cloud-based computing solutions. The review synthesizes key discoveries from these projects, particularly in identifying expression quantitative trait loci and rare variants associated with complex diseases. Our review introduces the latest findings from the National Project of Bio-Big Data of Korea, which has advanced our understanding of population-specific genetic variation and rare diseases in Korean and East Asian populations. Finally, we discuss future directions and challenges in maximizing the impact of these resources on precision medicine and global health equity. This comprehensive examination demonstrates how large-scale national genome projects are revolutionizing genetic research and healthcare delivery while highlighting the importance of continued investment in diverse, population-specific genomic resources. © The Author(s) 2025. 2025-12-01T00:00:00Z https://scholar.korea.ac.kr/handle/2021.sw.korea/269545 Title: Synergistic effects of oral milk ceramide-collagen peptides mixtures in preventing UV-induced inflammation and photoaging through TGF-β and NF-κB/MAPK signaling pathways in UV-exposed hairless mice Authors: Han, Sung Hee; Suh, Hyung Joo; Lee, Sang Jun; Chang, Yeok Boo Abstract: This study investigates the synergistic effects of oral milk ceramide-collagen peptides in inhibiting UV-induced inflammation and preventing photoaging. The optimal ratio of milk ceramide to collagen peptides was determined in HaCaT cells, and the effects of oral supplementation of milk ceramide-collagen peptides were evaluated in UV-exposed hairless mice. HaCaT cells did not exhibit cytotoxicity when treated with milk ceramide and collagen peptides at concentrations up to 200 μg/mL. UVB exposure decreased cell viability, but treatment with the milk ceramide-collagen peptides mixtures (1:1, 1:3) prevented further viability loss and improved collagen peptides synthesis markers, including MMPs and TIMPs. The combination also enhanced moisture-related factors (AQP3, FLG) and reduced inflammatory cytokines (IL-6, IL-1β) and COX expression. In hairless mice, oral supplementation of milk ceramide-collagen peptides mixture (1:1 ratio) improved skin hydration, reduced erythema, TEWL, skin thickness, and wrinkle formation in a dose-dependent manner. The treatment also suppressed the expression of MMPs and TIMPs, promoting collagen peptides synthesis. Furthermore, the mixtures regulated NF-κB and MAPK signaling pathways, reducing inflammation and photoaging. These results suggest that the 1:1 milk ceramide-collagen peptides mixture effectively prevents UV-induced skin damage and photoaging by enhancing collagen peptides production and improving skin barrier function. © 2025 The Authors 2025-07-01T00:00:00Z https://scholar.korea.ac.kr/handle/2021.sw.korea/270788 Title: Effects of novel sulfated-rhamnoglucuronan isolated from Korean seaweed Ulva pertusa on IgA-mediated intestinal-immune system activation in naïve C3H/HeN mice Authors: Son, Seung-U; Suh, Hyung Joo; Shin, Kwang-Soon Abstract: A previous study identified a novel sulfated-rhamnoglucuronan structure in Ulva pertusa polysaccharide (UPP). The present study evaluates the intestinal immunostimulatory effects of UPP in naïve C3H/HeN mice. Oral administration of UPP significantly enhanced the secretion of IgA and associated cytokines, including interleukin (IL)-6, IL-10, and transforming growth factor (TGF)-β, from Peyer's patch (PP) cells in vivo. Additionally, the supernatant from PP cell cultures stimulated the proliferation of bone marrow cells. Histological analysis revealed strong stimulation of PP by UPP, as evidenced by hematoxylin and eosin staining. Serum analysis indicated that UPP triggered TGF-β secretion, which subsequently promoted IgA production. Furthermore, UPP administration enhanced IgA-related cytokine production in ileum tissues and was linked to the activation of the mitogen-activated protein kinase and nuclear factor kappa B signaling pathways. The secretion of A proliferation-inducing ligand (tumor necrosis factor superfamily member 13; TNFSF13) and B-cell activating factor (TNFSF13B) was also upregulated in the ileum. Additionally, fecal analysis demonstrated an increase in short-chain fatty acids, including acetic, propionic, and butyric acids, in a dose- and administration period-dependent manner. These findings suggest that UPP administration contributes IgA-related immune responses and intestinal immune system modulation via PP cells. © 2025 Elsevier B.V. 2025-06-01T00:00:00Z https://scholar.korea.ac.kr/handle/2021.sw.korea/269429 Title: Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models Authors: Kang, Minkyung; Choi, Jihye; Han, Jeongho; Araki, Toshiyuki; Kim, Soo-Whee; Ryu, Hyun-Hee; Kim, Min-Gyun; Kim, Seoyeon; Jang, Hanbyul; Kim, Sun Yong; Hwang, Kyoung-Doo; Kim, Soobin; Yoo, Myeongjong; Lee, Jaegeon; Kim, Kitae; Park, Pojeong; Choi, Ja Eun; Han, Dae Hee; Kim, Yujin; Kim, Jeongyeon; Chang, Sunghoe; Kaang, Bong-Kiun; Ko, Jung Min; Cheon, Keun-Ah; An, Joon-Yong; Kim, Sang Jeong; Park, Hyungju; Neel, Benjamin G.; Kim, Chul Hoon; Lee, Yong-Seok Abstract: RAS/MAPK pathway mutations often induce RASopathies with overlapping features, such as craniofacial dysmorphology, cardiovascular defects, dermatologic abnormalities, and intellectual disabilities. Although B-Raf proto-oncogene (BRAF) mutations are associated with cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome, it remains unclear how these mutations impair cognition. Here, we investigated the underlying neural mechanisms using several mouse models harboring a gain-of-function BRAF mutation (K499E) discovered in RASopathy patients. We found expressing BRAF K499E (KE) in neural stem cells under the control of a Nestin-Cre promoter (Nestin;BRAFKE/+) induced hippocampal memory deficits, but expressing it in excitatory or inhibitory neurons did not. BRAF KE expression in neural stem cells led to aberrant reactive astrogliosis, increased astrocytic Ca2+ fluctuations, and reduced hippocampal long-term depression (LTD) in mice. Consistently, 3D human cortical spheroids expressing BRAF KE also showed reactive astrogliosis. Astrocyte-specific adeno-associated virus–BRAF KE (AAV-BRAF KE) delivery induced memory deficits and reactive astrogliosis and increased astrocytic Ca2+ fluctuations. Notably, reducing extracellular signal-regulated kinase (ERK) activity in astrocytes rescued the memory deficits and altered astrocytic Ca2+ activity of Nestin;BRAFKE/+ mice. Furthermore, reducing astrocyte Ca2+ activity rescued the spatial memory impairments of BRAF KE–expressing mice. Our results demonstrate that ERK hyperactivity contributes to astrocyte dysfunction associated with Ca2+ dysregulation, leading to the memory deficits of BRAF-associated RASopathies. © 2025, Kang et al. 2025-04-15T00:00:00Z