Sungkyunkwan University · Medicine
Professor Hee-Jin Kim's research lab focuses on molecular and genetic mechanisms underlying endocrine disorders, particularly thyroid dysfunction and its impact on reproductive health. The lab investigates environmental toxicants like di(n-butyl) phthalate in the context of oxidative stress and hormonal imbalance in animal models. Additionally, the lab contributes to the genetic diagnosis of monogenic diseases, such as autosomal dominant non-syndromic hearing loss, using advanced genomic techniques. The research also extends to hematological malignancies, particularly MLL-rearranged leukemias, with a focus on rare gene fusions and their molecular pathology.
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ClinicalTrial.gov identifier NCT01297218 and NCT01696591.
ClinicalTrials.gov NCT02054208. Registered on 4 February 2014. ClinicalTrials.gov NCT03172117. Registered on 1 June 2017.
This study compared the effects of di(n-butyl) phthalate (DBP) on the oxidative damage and antioxidant enzymes activity in testes of hyperthyroid rats. Hyperthyroidism was induced in pubertal male rats by intraperitoneal injection of triiodothyronine (T3, 10 microg/kg body weight) for 30 days. An oral dose of DBP (750 mg/kg) was administered simultaneously to normal or hyperthyroid (T3) rats over a 30-day period. No changes in body weight were observed in the hyperthyroid groups (T3, T3 + DBP) c
Tuberculosis is still a serious communicable disease in Korea. The prevalence of tuberculosis had been rapidly decreased in past by the country widely expanded national control program, improvement of nutrition and development of medical services. However, decline of tuberculosis is recently stagnated because of increase of aged population and the prevalence of other chronic disease such as diabetes. The registry number of new tuberculosis patients was 36,305 and 2,365 cases were died of tubercu
Autosomal dominant non-syndromic hearing loss (AD-NSHL) is one of the most common genetic diseases in human and is well-known for the considerable genetic heterogeneity. In this study, we utilized whole exome sequencing (WES) and linkage analysis for direct genetic diagnosis in AD-NSHL. The Korean family had typical AD-NSHL running over 6 generations. Linkage analysis was performed by using genome-wide single nucleotide polymorphism (SNP) chip and pinpointed a genomic region on 5q31 with a signi
Rearrangements of the MLL gene on chromosome 11, band q23, are one of the most common genetic changes in acute leukemia. Reciprocal translocation is the most common form of MLL rearrangement, and the partner genes in MLL translocation are notably diverse. Involvement of the SEPTIN6 gene on Xq24 in MLL rearrangements occurs very rarely, with only six cases having been documented in the literature. Of note, the MLL/SEPTIN6 rearrangements in these cases were cryptic or complex, and it was shown tha
Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance. IRIDA is characterized by hypochromic microcytic anemia unresponsive to oral iron treatment, low transferrin saturation, and a high level of iron-regulated hormone hepcidin. The genetic background of IRIDA is mutations in the TMPRSS6 gene encoding matriptase-2 (TMPRSS6) that prevent inactivation of hemojuvelin, an activator of hepcidin transcription. We herein report a Korean fem
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by pure red cell aplasia, various congenital anomalies, and cancer predisposition. We report a novel mutation in the RPS17 gene in a Korean patient with DBA. The mutation occurred in the translation initiation codon, changing Atg to Gtg (c.1A>G), thus disrupting the natural start of the RPS17 protein biosynthesis. This is the third case of DBA from a RPS17 mutation in the literature and is the second case of
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