Browsing by Keyword : Amino Acid Substitution

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Showing results 1 to 22 of 22

Pub YearTitleAJOU Author(s)
1998A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.이은소
2019Abrogation of B-Raf(V600E) induced senescence by FoxM1 expression강석윤, 김장희, 박태준, 최용원
2019Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians서창희
2012C-terminal substitution of HBV core proteins with those from DHBV reveals that arginine-rich 167RRRSQSPRR175 domain is critical for HBV replication김경민, 박선, 신호준, 최용준
2013Functional consequences of complementarity-determining region deactivation in a multifunctional anti-nucleic acid antibody.권명희
2006Heavy and light chain variable single domains of an anti-DNA binding antibody hydrolyze both double- and single-stranded DNAs without sequence specificity.권명희
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김유찬, 김현주, 정선용, 정연훈
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2004Identification of a novel HLA-B*55 variant (B*5513) from a Korean family.박해심
2019Increasing Prevalence of Group III Penicillin-Binding Protein 3 Mutations Conferring High-Level Resistance to Beta-Lactams Among Nontypeable Haemophilus influenzae Isolates from Children in Korea정현주
2016Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls권은별, 이해상, 정선용, 황진순
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2010Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.김성환, 황진순
2018Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population조남한
2022Omicron: A Heavily Mutated SARS-CoV-2 Variant Exhibits Stronger Binding to ACE2 and Potently Escapes Approved COVID-19 Therapeutic AntibodiesSHAH, MASAUD, 우현구
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2000Phosphorylation of methylated-DNA-protein-cysteine S-methyltransferase at serine-204 significantly increases its resistance to proteolytic digestion.박태준, 백운기, 임인경
2015Phosphorylation of phosphatidylinositol 4-phosphate 5-kinase γ by Akt regulates its interaction with talin and focal adhesion dynamics.이상윤, 주일로
2016Resistance Mechanisms and Clinical Features of Fluconazole-Nonsusceptible Candida tropicalis Isolates Compared with Fluconazole-Less-Susceptible Isolates이위교
2003The ICAM1469*E is associated with susceptibility to ocular lesions and vasculitis in Korean patients with Behçet's disease.이성낙, 이은소
2019Ufd1 phosphorylation at serine 229 negatively regulates endoplasmic reticulum-associated degradation by inhibiting the interaction of Ufd1 with VCP이상윤
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