A5073767338- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- PARP inhibition in cancer therapy
- CRISPR and Genetic Engineering
- Botulinum Toxin and Related Neurological Disorders
- Ear Surgery and Otitis Media
- DNA Repair Mechanisms
- Vestibular and auditory disorders
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Hearing, Cochlea, Tinnitus, Genetics
- Heat shock proteins research
Seoul National University
2024
Kongju National University
2020-2022
Chimeric antigen receptor (CAR)-engineered natural killer (NK) cells are a promising immunotherapy for solid cancers; however, their effectiveness against pancreatic cancer is limited by the immunosuppressive tumor microenvironment. In particular, low NK cell infiltration poses major obstacle that reduces cytotoxicity. The current study aimed to enhance tumor-homing capacity of CAR-NK targeting chemokine-chemokine axis between and cells. To this end, data from chemokine array Cancer Genome...
Abstract Background Homologous recombination deficiency (HRD) stands as a clinical indicator for discerning responsive outcomes to platinum-based chemotherapy and poly ADP-ribose polymerase (PARP) inhibitors. One of the conventional approaches HRD prognostication has generally centered on identifying deleterious mutations within BRCA1/2 genes, along with quantifying genomic scars, such Genomic Instability Score (GIS) estimation scarHRD. However, scarHRD method limitations in scenarios...
Abstract Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in neurofilament light polypeptide ( NEFL ) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 Korean CMT families underwent sequencing, we investigated clinical, genetic, neuroimaging spectra of ‐related patients. Ten mutations 17 (1.49%) were identified, which three (p.L312P,...
Abstract Background Charcot–Marie–Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes CMT in the Pakistani patients. Methods This study was performed to identify pathogenic mutations five consanguineous families negative for PMP22 duplication. Genomic screening by application whole exome sequencing. Results We or likely homozygous four genes: c.2599C > T (p.Gln867*) c.3650G A...
Small heat shock proteins (sHSPs) are ATP-independent chaperones that help correct the folding of denatured and protect cells from stress. Mutations in HSPB1, HSPB8, HSPB3 implicated inherited peripheral neuropathies (IPNs), such as Charcot-Marie-Tooth disease type 2 (CMT2) distal hereditary motor (dHMN). This study, using whole exome sequencing or targeted gene sequencing, identified 9 pathogenic likely variants these three sHSP genes 11 Korean IPN families. Most were located evolutionally...
Charcot-Marie-Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT usually classified into three types, demyelinating, axonal, intermediate neuropathies. Mutations in myelin protein zero (MPZ) gene which encodes a transmembrane Schwann cells as major component have been reported to cause various type CMT.This study screened MPZ mutations Korean patients (1,121 families) whole exome sequencing...
Abstract Background Charcot-Marie-Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous disorders. Few studies have identified genetic causes in the Pakistani CMT patients. Methods This study was performed to identify pathogenic mutations five consanguineous families negative for PMP22 duplication. Genomic screening by application whole exome sequencing Results We or likely homozygous four genes: c.2599C > T (p.Gln867*) c.3650G A (p.Gly1217Asp)...