김현영 교수

Thiopurine S-methyltransferase (TPMT) is a cytoplasmic enzyme involved in the metabolism of thiopurine drugs and its activity is largely influenced by polymorphisms of the TPMT gene. To date, more than 35 TPMT variants are known to be associated with reduced enzyme activity, but most studies on the TPMT genotype have included only common nonfunctional variants, such as TPMT*2 and TPMT*3. In this study, we carried out a complete sequencing analysis to screen all TPMT variants in Korean patients.

Chronic granulomatous disease (CGD) is a rare genetic disease, which is caused by defects in the NADPH oxidase complex (gp91(phox), p22(phox), p40(phox), p47(phox), and p67(phox)) of phagocytes. This defect results in impaired production of superoxide anions and other reactive oxygen species (ROS), which are necessary for killing bacterial and fungal microorganisms and leads to recurrent, life-threatening bacterial and fungal infections and granulomatous inflammation. The dihydrorhodamine (DHR)

The activity and localization of large-conductance Ca2+ -activated K+ (BKCa) channels are known to be modulated by several different proteins. Although many binding partners have been identified via yeast two-hybrid screening, this method may not detect certain classes of interacting proteins such as low affinity binding proteins or multi-component protein complexes. In this study, we employed mass spectrometry to identify proteins that interact with BKCa channels. We expressed and purified the

BACKGROUND: Estimated average glucose (eAG) is a value calculated from hemoglobin A1c (HbA1c) that reflects average glycemic status over the preceding few months. A linear relationship between HbA1c and eAG was demonstrated by the International HbA1c-Derived Average Glucose (ADAG) Trial in 2008. We investigated the relationship between fasting plasma glucose (FPG) and eAG. METHODS: This retrospective study was conducted by reviewing the medical records of 6443 subjects, including 5567 diabetic p

Inherited bone marrow failure syndrome (IBMFS) is a group of clinically heterogeneous disorders characterized by significant hematological cytopenias of one or more hematopoietic cell lineages and is associated with an increased risk of cancer. The genetic etiology of IBMFS includes germline mutations impacting several key biological processes, such as DNA repair, telomere biology, and ribosome biogenesis, which may cause four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blac

(7%). The present data indicate the need for matching of extended RBC antigens (Rh, Duffy, and Kidd systems) for chronically transfused patients with MDS and LC in Korea.

Combination treatment with PT and balsalazide may offer an effective strategy for the induction of apoptosis in HCT116 cells.

Background . Bioavailable 25-hydroxy vitamin D (25(OH)D) has been suggested for the accurate determination of vitamin D status. The purpose of this study was to determine the utility of bioavailable 25(OH)D in assessing vitamin D status when vitamin D-binding protein (VDBP) was significantly altered by pregnancy and liver cirrhosis (LC). The role of genotyping of GC , a gene encoding VDBP, in the determination of bioavailable 25(OH)D concentration in a Korean population was also evaluated. Metho

Clinical application of NGF-based MRD assessment can provide valuable information for predicting disease progression in patients with MM in remission, including those with high-risk cytogenetic abnormalities.

Somatic CALR mutations occur in approximately 70% of patients with JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the CALR mutant type and burden on the phenotype of CALR-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with CALR mutations were diagnosed with ET (n = 32) or PMF (n = 17). The CALR mutant burden was significantly higher in PMF than in ET (45% vs

Candida famata is a commensal yeast found in natural substrates and various types of cheese It is a rare cause of candidiasis and has been described in human infections, including bloodstream infections Results of commercial microbial identification systems based on biochemical tests, available for C. famata identification, are not accurate Here, we describe three candidiasis cases that were misidentified as C. famata by the Vitek 2 system (bioMeriux, Marcyl'Etoile, France). This study was appro

RATIONALE: Parvovirus B19 (PV) infection is usually symptomless and can cause benign, short-lived conditions. Anemia associated with PRCA is the most representative hematologic manifestation, but neutropenia and thrombocytopenia have been rarely reported. PATIENT CONCERNS: Three patients were admitted to the hospital with neutropenia and thrombocytopenia. The accompanying symptoms were fever, myalgia, rash, or arthralgia, and all patients were previously healthy. DIAGNOSIS: Patients were positiv