Department of Medical Genetics31

Pub YearTitleAuthor(s)
-A case of adolescent Werner syndrome with WRN gene mutation-
-Anti-osteoporotic effects of Scopolin in ovariectomized mice-
-Array CGH in Korean patients with developmental delay or intellectual disability-
-Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women-
-The better performance of TBS in the prediction of vertebral fractures in postmenopausal women compared to BMD or FRAX score-
-Cellular senescence phenotype attributes trigger of bone remodeling to monocyte recruitment-
-Clinical features of a Korean patient with Potocki-Lupski syndrome with the shortest microduplication 17q11.2-
-Decreased IFITM1 expression is closely associated with tumor progression of plexiform neurofibromas in Neurofibromatosis type 1-
-Effects of dihydrophaseic acid 3ʹ-O-β-D-glucopyranoside isolated from Lycii Radicis cortex on osteoblast differentiation-
-Functional study of the TFB2M c.790C>T (His264Tyr) variant for intellectual disability-
-GATA4 negatively regulates Bsp via down-regulating of Runx2 and Dlx5 in osteoblast differentiation in vitro-
-GATA4 regulates Bsp in vitro osteoblast differentiation via Runx2 and Sox9-
-Identification of direct Nurr1 target genes having a critical role in dopaminergic neurogenesis-
-Identification of direct Nurr1 target genes having a critical role in dopaminergic neuronal specification and maintenance-
-Identification of MKRN3 variants in Korean girls with central precocious puberty-
-Identification of the novel genetic variants for susceptibility to central precocious puberty in Korean girls using a genome wide-association study-
-Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness-
-In vivo functional validation of central precocious puberty associated gene mkrn3 using Drosophila model-
-Lowe Syndrome Confirmed by A OCRL1 gene mutation (c.2083C>T) in A 6-Year-Old Child-
-Makorin 1(mkrn1) is required for Drosophila oogenesis-
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