27 Result(s)
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Open AccessThe identification of effective tumor-suppressing neoantigens using a tumor-reactive TIL TCR-pMHC ternary complex
Neoantigens are ideal targets for cancer immunotherapy because they are expressed de novo in tumor tissue but not in healthy tissue and are therefore recognized as foreign by the immune system. Advances in nex...
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Open AccessSingle-nucleotide variant calling in single-cell sequencing data with Monopogen
Single-cell omics technologies enable molecular characterization of diverse cell types and states, but how the resulting transcriptional and epigenetic profiles depend on the cell’s genetic background remains ...
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Open AccessAssociation between genetic risk and adherence to healthy lifestyle for develo** age-related hearing loss
Previous studies have shown that lifestyle/environmental factors could accelerate the development of age-related hearing loss (ARHL). However, there has not yet been a study investigating the joint association...
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Open AccessPolygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks
Numerous observational studies have highlighted associations of genetic predisposition of head and neck squamous cell carcinoma (HNSCC) with diverse risk factors, but these findings are constrained by design l...
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Open AccessLeveraging genetic overlap between irritability and psychiatric disorders to identify genetic variants of major psychiatric disorders
Irritability is a heritable core mental trait associated with several psychiatric illnesses. However, the genomic basis of irritability is unclear. Therefore, this study aimed to 1) identify the genetic varian...
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Open AccessMultimodal deep learning of fundus abnormalities and traditional risk factors for cardiovascular risk prediction
Cardiovascular disease (CVD), the leading cause of death globally, is associated with complicated underlying risk factors. We develop an artificial intelligence model to identify CVD using multimodal data, inc...
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Open AccessComparison of cell type distribution between single-cell and single-nucleus RNA sequencing: enrichment of adherent cell types in single-nucleus RNA sequencing
Single-cell ribonucleic acid (RNA) sequencing (scRNA-seq) is an effective technique for estimating the cellular composition and transcriptional profiles of individual cells from fresh tissue. Single-nucleus RN...
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Open AccessA database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population
Despite substantial advances in disease genetics, studies to date have largely focused on individuals of European descent. This limits further discoveries of novel functional genetic variants in other ethnic g...
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Open AccessSingle-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer
The consensus molecular subtype (CMS) classification of colorectal cancer is based on bulk transcriptomics. The underlying epithelial cell diversity remains unclear. We analyzed 373,058 single-cell transcripto...
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Open AccessThe role of PDGFRA as a therapeutic target in young colorectal cancer patients
Young patients with colorectal cancer (CRC) exhibit poor prognoses compared to older patients due to the difficulty in early diagnosis and treatment. However, the underlying molecular characteristics are still...
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Open AccessNovel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hearing loss (DFNA2), and no effective pharmacotherapeutics have been developed to reverse chann...
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Open AccessTumor-promoting macrophages prevail in malignant ascites of advanced gastric cancer
Gastric cancer (GC) patients develop malignant ascites as the disease progresses owing to peritoneal metastasis. GC patients with malignant ascites have a rapidly deteriorating clinical course with short survi...
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Open AccessSingle-cell genomics technology: perspectives
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Open AccessCancer cells undergoing epigenetic transition show short-term resistance and are transformed into cells with medium-term resistance by drug treatment
To elucidate the epigenetic mechanisms of drug resistance, epigenetically reprogrammed H460 cancer cells (R-H460) were established by the transient introduction of reprogramming factors. Then, the R-H460 cells...
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Open AccessMutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics
While auditory neuropathy spectrum disorder (ANSD) is a heterogeneous disorder and its management quite varies depending upon the etiology, even including self-resolution, OTOF is an important molecular etiology ...
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Open AccessPrecision medicine approaches to lung adenocarcinoma with concomitant MET and HER2 amplification
Patient-derived xenograft (PDX) models are important tools in precision medicine and for the development of targeted therapies to treat cancer patients. This study aimed to evaluate our precision medicine stra...
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Open AccessTargeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis...
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Open AccessStrong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
Despite the prevalence of CDH23 mutations in East Asians, its large size hinders investigation. The pathologic mutation p.P240L in CDH23 is common in East Asians. However, whether this mutation represents a commo...
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Open AccessTime-course analysis of DNA damage response-related genes after in vitro radiation in H460 and H1229 lung cancer cell lines
Radiation is the most useful treatment modality for cancer patients. It initiates a series of signal cascades such as DNA damage response (DDR) signaling for repairing damaged DNA, arresting the cell cycle, an...
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Open AccessmiR-9 and let-7g enhance the sensitivity to ionizing radiation by suppression of NFκB1
The activation of nuclear factor-kappa B1 (NFκB1) in cancer cells may confer resistance to ionizing radiation (IR). To enhance the therapeutic efficiency of IR in lung cancer, we screened for microRNAs (miRNAs...
