Showing results 1 to 22 of 22
|A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.
|Abrogation of B-Raf(V600E) induced senescence by FoxM1 expression
|강석윤, 김장희, 박태준, 최용원
|Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians
|C-terminal substitution of HBV core proteins with those from DHBV reveals that arginine-rich 167RRRSQSPRR175 domain is critical for HBV replication
|김경민, 박선, 신호준, 최용준
|Functional consequences of complementarity-determining region deactivation in a multifunctional anti-nucleic acid antibody.
|Heavy and light chain variable single domains of an anti-DNA binding antibody hydrolyze both double- and single-stranded DNAs without sequence specificity.
|Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
|김유찬, 김현주, 정선용, 정연훈
|Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
|Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
|Identification of a novel HLA-B*55 variant (B*5513) from a Korean family.
|Increasing Prevalence of Group III Penicillin-Binding Protein 3 Mutations Conferring High-Level Resistance to Beta-Lactams Among Nontypeable Haemophilus influenzae Isolates from Children in Korea
|Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls
|권은별, 이해상, 정선용, 황진순
|Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia
|Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
|Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population
|Omicron: A Heavily Mutated SARS-CoV-2 Variant Exhibits Stronger Binding to ACE2 and Potently Escapes Approved COVID-19 Therapeutic Antibodies
|SHAH, MASAUD, 우현구
|Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
|Phosphorylation of methylated-DNA-protein-cysteine S-methyltransferase at serine-204 significantly increases its resistance to proteolytic digestion.
|박태준, 백운기, 임인경
|Phosphorylation of phosphatidylinositol 4-phosphate 5-kinase γ by Akt regulates its interaction with talin and focal adhesion dynamics.
|Resistance Mechanisms and Clinical Features of Fluconazole-Nonsusceptible Candida tropicalis Isolates Compared with Fluconazole-Less-Susceptible Isolates
|The ICAM1469*E is associated with susceptibility to ocular lesions and vasculitis in Korean patients with Behçet's disease.
|Ufd1 phosphorylation at serine 229 negatively regulates endoplasmic reticulum-associated degradation by inhibiting the interaction of Ufd1 with VCP