• Proceedings of the Korean Society of Crop Science Conference
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• 2018.04a
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• pp.143-143
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• 2018

• Proceedings of the KSAR Conference
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• 2005.06a
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• pp.15-16
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• 2005

• Proceedings of the Korean Society of Crop Science Conference
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• 2018.10a
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• pp.228-228
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• 2018

• Proceedings of the Korean Society for Applied Microbiology Conference
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• 2003.06a
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• pp.105-105
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• 2003

• Animal cells and systems
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• v.2 no.1
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• pp.123-131
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• 1998

The unc-29 region on the chromosome I of Caenorhabditis elegans has been mutagenized in order to obtain lethal mutations. In this screen, the uncoordinated phenotype of unc-29 (e193) mutant was used to identify any lethal mutations closely linked to the unc-29 gene, which encodes a subunit of nicotinic acetylcholine receptors. We have isolated six independent mutations (jh1 to jh6) out of approximately 5,200 ethyl methanesulfonate(EMS) treated haploids. Four of the six mutations demonstrated embryonic lethal phenotypes, while the other two showed embryonic and larval lethal phenotypes. Terminal phenotypes observed in two mutations (jh1 and jh2) indicated developmental defects specific to posterior part of embryos which appeared similar to the phenotypes observed in nob (no back end) mutants. Another mutation (jh4) resulted in an interesting phenotype of body-wall muscle degeneration at larval stage. These mutations were mapped by using three-factor crosses and deficiency mutants in this region. Here we report genetic analysis and characterization of these lethal mutations.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.4
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• pp.2255-2258
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• 2013

The activity of Rb proteins is controlled by post-translational modifications, especially through phosphorylation. Acetylation of Rb2/p130 was reported recently in NIH3T3 cells but its physiological relevance in cell cycle control and tumorigenesis is still unknown. Efforts are underway to investigate possible interplay between Rb2/p130 phosphorylation and acetylation. Here we hypothesized that Rb2/p130 acetylation, like p53 acetylation, may play a role in development of the tumor phenotype. The proposed hypothesis regarding acetylation of Rb2/p130 in tumor VS normal cells was found to be true in our case study of 36 tumor samples. Statistical analysis of results suggest strong correlation among Rb2/p130 acetylation and cancer phenotype.

• Applied Microscopy
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• v.28 no.3
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• pp.391-398
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• 1998

The morphological phenotype on ocellus of Drosophila rdgC mutant was observed with electron microscope. The result showed the particular phenotype that was not found in other retinal degenarative mutants. The most distinct difference was the orientation of photoreceptor cells. The photoreceptor cells did not attached to corneagenous cells but dropped under corneagenous cells and assembled around newly formed space. Enormous multivesicle bodies caused by the degeneration of photoreceptor cells were frequently found. Rhabdomeres were also severely degenerated in consequence of the mutant. Another degeneration was found in a part of photoreceptor cell, but the degeneration of subrhabdomeric cisternae (SRC) was not found. It was a ovious difference of rdgC comparing with other two retinal degenerative mutants, rdgA and rdgB. As a result, rdgC mutant was affected on the attachment between photoreceptor cells and corneageneous cells, and it suggested the defect of cell-cell attachment. In addition, rdgC mutant was accompanied by the defect not only in retina but nerve system. The results were agreed to the reference discussion that the rdgC molecule is exist in the nerve.

• Annals of Clinical Neurophysiology
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• v.11 no.2
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• pp.59-63
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• 2009

Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction. We report a patient showing the MM phenotype who has a sister with LGMD 2B phenotype, along with the results of the immunohistochemical and molecular analyses of the DYSF gene. Immunohistochemical analysis noted negative immunoreactivity against dysferlin. Direct DNA sequencing of whole exons of DYSF gene revealed heterozygous nonsense mutations (c.610C>T + c.2494C>T). To our knowledge, this is the first reported MM case with this very combination of heterozygous mutations.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.835-840
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• 2007

Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.

• Clinical and Experimental Pediatrics
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• v.53 no.10
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• pp.909-912
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• 2010

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene $SCN4A$, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.