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연구실적

번호 제목
159 Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3’ UTR in NEFH. Journal of peripheral nerve system 22:200-207 (2017)
158 Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. Journal of peripheral nerve system 22: 172-181 (2017)
157 Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. Mitochondrion 35: 54-58 (2017)
156 miR-27a and miR-449b polymorphisms associated with a risk of idiopathic recurrent pregnancy loss. PLOS ONE 12: e0177160 (2017)
155 In vitro, in vivo and in silico anti-hyperglycemic inhibition by sinigrin. Asian Pacific Journal of Tropical Medicine 10: 372-379 (2017)
154 A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain 140: 1252-1266 (2017)
153 Cerebral white matter abnormalities in patients with Charcot-Marie-Tooth disease. Annal Neurology 81: 147-151 (2017)
152 Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. Oncotarget 7: 74496-74509 (2016)
151 Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. Molecular Medicine Reports 14(4): 3362-3368 (2016)
150 A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A. Journal of Clinical Neurology 12: 509-511 (2016)
149 Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP. Clinical Genetics 90: 177-181 (2016)
148 Genotype–phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations. Genes Genomics 38:659–667 (2016)
147 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. Molecular Medicine Reports 14(1): 33-40 (2016)
146 Clinicogentics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations. Brain 139: e40 (2016)
145 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C and miR-499A>G polymorphisms with risk of recurrent Implantation failure in Korean women. European Journal of Obstetrics & Gynecology and Reproductive Biology 202: 14-19 (2016)
144 Identification of genetic causes of inherited peripheral neuropathies by targeted gene panel sequencing. Molecules and Cells 39: 382-388 (2016)
143 DGAT2 mutation in a family with autosomal dominant early-onset axonal Charcot-Marie-Tooth disease. Human Mutation 37: 473-480 (2016)
142 Identification of Korean-specific SNP markers from whole exome sequencing data. International Journal of Legal Medicine 130 : 669-677 (2016)
141 Berberine induces dedifferentiation by actin cytoskeleton reorganization via phosphoinositide 3-kinase/Akt and p38 kinase pathways in rabbit articular chondrocytes. Experimental Biology and Medicine 241: 800-807 (2016)
140 X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. Journal of the Peripheral Nerve Systems 21(1): 45-51 (2016)

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