원소연 교수

The endothelial cilium is a microtubule-based organelle responsible for blood flow-induced mechanosensation and signal transduction during angiogenesis. The precise function and mechanisms by which ciliary mechanosensation occurs, however, are poorly understood. Although posttranslational modifications (PTMs) of cytoplasmic tubulin are known to be important in angiogenesis, the specific roles of ciliary tubulin PTMs play remain unclear. Here, we report that loss of centrosomal protein 41 (CEP41)

Abstract Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. Although next-generation sequencing (NGS) technologies have been successfully applied to gene identification in de novo ASD, the genetic architecture of familial ASD remains largely unexplored. Our approach, which leverages the high specificity and sensitivity of NGS technology, has focused on rare variants in familial autism. We used NGS exome sequencing in 26 families with distantl

The quality of radiomics reporting in MCI and AD studies is suboptimal. Validation is necessary using external dataset, and improvements need to be made to feature reproducibility, feature selection, clinical utility, model performance index, and pursuits of a higher level of evidence.

Software-aided reading showed significant incremental value in the sensitivity of clinicians in the detection of aneurysms on MRA without a significant increase in false-positive findings, especially for the neurosurgeon and neurologist. Software-aided reading showed equivocal value for the radiologist.

The present deep learning model for automated detection of unruptured intracranial aneurysms on TOF MRA achieved the target diagnostic performance comparable to that of human radiologists. With high standalone performance, this model may be useful for accurate and efficient diagnosis of intracranial aneurysm.

In the peripheral nervous system (PNS), proper development of Schwann cells (SCs) contributing to axonal myelination is critical for neuronal function. Impairments of SCs or neuronal axons give rise to several myelin-related disorders, including dysmyelinating and demyelinating diseases. Pathological mechanisms, however, have been understood at the elementary level and targeted therapeutics has remained undeveloped. Here, we identify Fibulin 5 (FBLN5), an extracellular matrix (ECM) protein, as a

The spatial relationship between the perforating artery orifice and plaque varied among different types of MCA territory infarctions. In patients with BOD, the plaque margin was closer and blocked the perforating artery orifice, and stenosis degree and enhancement were less than those in patients with AA.

PURPOSE: The purpose of this study was to externally validate the diagnostic usefulness of transrectal ultrasound (TRUS) or transvaginal ultrasound (TVUS)-guided biopsy for pelvic masses, and to analyze the diagnostic performance of these methods in oncologic patients. METHODS: A consecutive series of 30 patients who underwent TRUS- or TVUS-guided biopsy for pelvic masses was included. Tissue samples were obtained using an 18-gauge core biopsy needle under local anesthesia for lesions detected o

OBJECTIVE: To evaluate the quality of radiomics studies on pituitary adenoma according to the radiomics quality score (RQS) and Transparent Reporting of a multivariable prediction model for Individual Prognosis Or Diagnosis (TRIPOD). METHODS: PubMed MEDLINE and EMBASE were searched to identify radiomics studies on pituitary adenomas. From 138 articles, 20 relevant original research articles were included. Studies were scored based on RQS and TRIPOD guidelines. RESULTS: Most included studies did

PURPOSE: The 2021 World Health Organization classification includes telomerase reverse transcriptase promoter (TERTp) mutation status as a factor for differentiating meningioma grades. Therefore, preoperative prediction of TERTp mutation may assist in clinical decision making. However, no previous study has applied fractal analysis for TERTp mutation status prediction in meningiomas. The purpose of this study was to assess the utility of three-dimensional (3D) fractal analysis for predicting the