이정호 교수

Essential to development, primary cilia are microtubule-based cellular organelles that protrude from the surface of cells. Acting as cellular antenna, primary cilia play central roles in transducing or regulating several signaling pathways, including Sonic hedgehog (Shh) and Wnt signaling. Defects in primary cilia contribute to a group of syndromic disorders known as "ciliopathies" and can adversely affect development of the brain and other essential organs, including the kidneys, eyes, and live

Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition. Expression of the tw

Abstract With the rapid increase in the use of optogenetics to investigate the nervous system, there is a high demand for a neural interface that enables 2D mapping of electrophysiological neural signals with high precision during simultaneous light stimulation. Here, a gold nanonetwork (Au NN)‐based transparent neural electrocorticogram (ECoG) monitoring system is proposed as implantable neural electronics. The neural interface enables accurate 2D mapping of ECoG neural signals without any phot

Brain somatic mutations confer genomic diversity in the human brain and cause neurodevelopmental disorders. Recently, brain somatic activating mutations in MTOR have been identified as a major etiology of intractable epilepsy in patients with cortical malformations. However, the molecular genetic mechanism of how brain somatic mutations in MTOR cause intractable epilepsy has remained elusive. In this study, translational profiling of intractable epilepsy mouse models with brain somatic mutations

Brain mosaic mutations are a major cause of refractory focal epilepsies with cortical malformations such as focal cortical dysplasia, hemimegalencephaly, malformation of cortical development with oligodendroglial hyperplasia in epilepsy, and ganglioglioma. Here, we collected cerebrospinal fluid (CSF) during epilepsy surgery to search for somatic variants in cell-free DNA (cfDNA) using targeted droplet digital polymerase chain reaction. In 3 of 12 epileptic patients with known somatic mutations p

In the bridge inspection, the information of cracks is important to maintain a bridge. Therefore, automatic crack detection is highly desirable for efficiency and objectivity of crack assessment. However, in general, it is very difficult to detect cracks automatically from noisy concrete surfaces. In this paper, we propose a machine vision system for automatic inspection of bridges. The proposed machine vision system can detect cracks in real time, and it has some utility functions for supervise

Mutations occur during cell division in all somatic lineages. Because neurogenesis persists throughout human life, somatic mutations in the brain arise during development and accumulate with the aging process. The human brain consists of 100 billion neurons that form an extraordinarily intricate network of connections to achieve higher level cognitive functions. Due to this network architecture, perturbed neuronal functions are rarely restricted to a focal area; instead, they are often spread vi

Our method facilitates the detection of ultra-low level somatic mutations, in specifically p-S6⁺ cells, and germline structural variations and increases the genetic diagnostic rate up to ~80% for the entire FCDII cohort. ANN NEUROL 2023;93:1082-1093.