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Dexamethsone Cotreatment Antoginizes FK506-induced Antitumor Effects in Hepatocarcinoma Cell
Hye Min Park,Sei Jin Lee,Hyeon Kyu Go,Ypung Ran Park,A Reum Mun,Ra Mi Park,Gi Beum Kim,Seong Jong Kim,Sung Zoo Kim,Chul Un Hong,Jin Shang Kim,Hyung Sub Kang,Shang Jin Kim 대한수의학회 2011 대한수의학회 학술대회발표집 Vol.2011 No.-
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo,Ja Hye Kim,Ja Hyang Cho,Gu Hwan Kim,Eul-Ju Seo,Beom Hee Lee,Jin Ho Choi,Han-Wook Yoo 대한소아청소년과학회 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.1
Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.
Go, Min-Jin,Hwang, Joo-Yeon,Kim, Dong-Joon,Lee, Hye-Ja,Jang, Han-Byul,Park, Kyung-Hee,Song, Ji-Hyun,Lee, Jong-Young Korea Genome Organization 2012 Genomics & informatics Vol.10 No.2
Dyslipidemia, mainly characterized by high triglyceride (TG) and low high-density lipoprotein cholesterol (HDL-C) levels, is an important etiological factor in the development of cardiovascular disease (CVD). Considering the relationship between childhood obesity and CVD risk, it would be worthwhile to evaluate whether previously identified lipid-related variants in adult subjects are associated with lipid variations in a childhood obesity study (n = 482). In an association analysis for 16 genome-wide association study (GWAS)-based candidate loci, we confirmed significant associations of a genetic predisposition to lipoprotein concentrations in a childhood obesity study. Having two loci (rs10503669 at LPL and rs16940212 at LIPC) that showed the strongest association with blood levels of TG and HDL-C, we calculated a genetic risk score (GRS), representing the sum of the risk alleles. It has been observed that increasing GRS is significantly associated with decreased HDL-C (effect size, $-1.13{\pm}0.07$) compared to single nucleotide polymorphism combinations without two risk variants. In addition, a positive correlation was observed between allelic dosage score and risk allele (rs10503669 at LPL) on high TG levels (effect size, $10.89{\pm}0.84$). These two loci yielded consistent associations in our previous meta-analysis. Taken together, our findings demonstrate that the genetic architecture of circulating lipid levels (TG and HDL-C) overlap to a large extent in childhood as well as in adulthood. Post-GWAS functional characterization of these variants is further required to elucidate their pathophysiological roles and biological mechanisms.