A5102728403- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Genomics and Rare Diseases
- Neuroinflammation and Neurodegeneration Mechanisms
- Cancer-related molecular mechanisms research
- Inflammation biomarkers and pathways
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Immune cells in cancer
- RNA and protein synthesis mechanisms
- Autism Spectrum Disorder Research
- Endoplasmic Reticulum Stress and Disease
- Neurogenesis and neuroplasticity mechanisms
- Glycosylation and Glycoproteins Research
- Ubiquitin and proteasome pathways
- Sarcoma Diagnosis and Treatment
- Muscle Physiology and Disorders
- Neurological Disease Mechanisms and Treatments
- Ion Transport and Channel Regulation
- Congenital heart defects research
- BRCA gene mutations in cancer
- Asthma and respiratory diseases
- Cancer Genomics and Diagnostics
- Cellular transport and secretion
Stanford University
2022-2024
California Institute for Regenerative Medicine
2023-2024
Seoul National University
1995-2021
Seoul National University Hospital
2016
New Generation University College
2005
University of Utah
1992-1993
Abstract AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca 2+ -impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients intellectual disability (ID) neurodevelopmental...
Lung adenocarcinomas (LUADs) lead to the majority of deaths attributable lung cancer. We performed whole-exome sequencing (WES) and immune profiling analyses a unique set clinically annotated early-stage LUADs better understand pathogenesis this disease identify relevant molecular markers.We WES 108 paired stage I-III normal tissues using Illumina HiSeq 2000 platform. Ten markers (PD-L1, PD-1, CD3, CD4, CD8, CD45ro, CD57, CD68, FOXP3 Granzyme B) were profiled by imaging-based...
Hematopoietic cell transplantation after myeloablative conditioning has been used to treat various genetic metabolic syndromes but is largely ineffective in diseases affecting the brain presumably due poor and variable myeloid incorporation into central nervous system. Here, we developed characterized a near-complete homogeneous replacement of microglia with bone marrow cells mice without need for manipulation donor or host. The high chimerism resulted from competitive advantage scarce...
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum a larger cohort of SCL6A1 ‐mutated patients. Methods collected 24 probands 6 affected family members. Four previously published cases included for further electroclinical description. In total, we reviewed data 34 subjects. Results Cognitive development was impaired 33/34 (97%) subjects; 28/34 had...
Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous overlapping clinical features often allocate patients into the boundary of two conditions, complicating accurate diagnosis appropriate medical interventions. Therefore, we investigated specific molecular mechanism that allows an understanding pathogenesis relationship these conditions.We screened novel genetic factors from 34...
There have been a few reports of GM3 synthase deficiency since the disease ganglioside biosynthetic pathway was first reported in 2004. It is characterized by infantile‐onset epilepsy with severe intellectual disability, blindness, cutaneous dyspigmentation, and choreoathetosis. Here we report cases two Korean female siblings ST3GAL5 variants, who presented Rett‐like phenotype. They had delayed speech, hand stereotypies loss purposeful movements, choreoathetosis, but no clinical seizures....
Abstract Casein kinase 1α (CK1α) is a serine/threonine that plays critical role in cellular homeostasis. In previous studies, CK1α promotes p53 inactivation by regulating MDM2 and MDMX, this mechanism may represent promising anticancer target Indeed, many studies have been reported recently on the development of inhibitors degraders as agents. We developed PIN5018, selective inhibitor, it exhibits activity acute myeloid leukemia (AML) adenoid cystic carcinoma (ACC). Interestingly, PIN5018...
Understanding lineage differentiation is an ongoing challenge in the field of stem cell research. We acquired eight gain-of-function (GOF) oncogenic mutations associated with DNA methylation alteration from TCGA datasets. After introducing each oncogene into wild-type cells separately, we found that mutant are difficult to reprogram iPSCs and terminally differentiate induced neuronal cells, retain proliferation capacity process differentiation. This findings suggests impair analyzing...
The SATB2 ‐associated syndrome ( SAS ) was proposed recently, after the gene initially discovered to be associated with isolated cleft palate. This is characterized by intellectual disability delayed speech development, facial dysmorphism, or high‐arched palate, and dentition problems. Here, we describe two novel sequence variants in unrelated patients presenting Rett‐like phenotypes. We performed trio‐based whole‐exome sequencing a 17‐month‐old girl severe retardation phenotypes, which...
Encoding the slow skeletal muscle isoform of myosin binding protein-C, MYBPC1 is associated with autosomal dominant and recessive forms arthrogryposis. The authors describe a novel association for in four patients from three independent families weakness, myogenic tremors, hypotonia gradual clinical improvement. carried one two de novo heterozygous variants MYBPC1, p.Leu263Arg variant seen individuals p.Leu259Pro individual. Both are absent controls, well conserved across vertebrate species,...
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied musculoskeletal anomalies such as muscular hypotonia small hands feet. Mutations in the KMT2A gene have only recently been identified cause of syndrome; therefore, 16 patients from 15 families described, new phenotypic features continue to added. In this report, we describe 2 newly with who presented variable severity. One...
Xenopus egg extract is capable of supporting mitosis in vitro, which makes it ideal for biochemical analysis the cell cycle. Since several studies have implicated ubiquitin system cycle progression, we measured conjugation rates, proteolysis ubiquitin-lysozyme conjugates, and rates isopeptidase activity cycling extracts. Although cytostatic factor arrested was half that activated extract, there were no changes during Ubiquitin conjugates are degraded by a 26 S ATP-stimulated protease. The...
Liposarcoma (LPS) is an adult soft tissue malignancy that arises from fat tissue, where well-differentiated (WD) and dedifferentiated (DD) forms are the most common. DDLPS represents progression of WDLPS into a more aggressive high-grade metastatic form. Although few DNA copy-number amplifications known to be specifically found in WD- or DDLPS, systematic genetic differences signify subtype determination between remain unclear. Here, we profiled genome transcriptome 38 LPS tumors uncover...
Ribosomes are emerging as direct regulators of gene expression, with ribosome-associated proteins (RAPs) allowing ribosomes to modulate translational control. However, a lack technologies enrich RAPs across many sample types has prevented systematic analysis RAP number, dynamics, and functions. Here, we have developed label-free methodology called RAPIDASH from any sample. We applied mouse embryonic tissues identified hundreds potential RAPs, including DHX30 LLPH, two forebrain important for...
The clinical spectrum of Rett syndrome (RTT; Mendelian Inheritance in Man [MIM] #312750) males is considered to be wider than previously expected. Therefore, the existence RTT with a normal male karyotype still controversial. Here, we report first case patient presenting an early seizure type Rett-like phenotypes missense variant MECP2. An 8-month-old was admitted pediatric department due initial event following aspiration pneumonia and referred our clinic for evaluation unexplained...
Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) has chemotherapeutic potential as a regulator of an extrinsic apoptotic ligand, but its effect drug is limited by innate and acquired resistance. Recent findings suggest that intermediate tolerance could mediate resistance, which made the main obstacle for utility TRAIL anti-cancer therapeutics. We propose miRNA-dependent epigenetic modification drives tolerant state in TRAIL-induced (TDT). Transcriptomic analysis revealed