• Clinical and Experimental Pediatrics
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• 제53권7호
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• pp.729-734
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• 2010

Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 50% of abdominal masses found in neonates and involve about 0.5% of all pregnancies. CAKUT has a major role in renal failure, and increasing evidence suggests that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adulthood. To understand the pathogenesis of human renal anomalies, understanding the development of kidney is important. Diverse anomalies of the kidney corresponding to defects at a particular stage of development have been documented recently; however, more research is required to understand the molecular networks underlying kidney development, and such an investigation will provide a clue to the therapeutic intervention for CAKUT.

• BMB Reports
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• 제50권11호
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• pp.546-553
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• 2017

Aging is a natural and gradual process in human life. It is influenced by heredity, environment, lifestyle, and disease. DNA methylation varies with age, and the ability to predict the age of donor using DNA from evidence materials at a crime scene is of considerable value in forensic investigations. Recently, many studies have reported age prediction models based on DNA methylation from various tissues and body fluids. Those models seem to be very promising because of their high prediction accuracies. In this review, the changes of age-associated DNA methylation and the age prediction models for various tissues and body fluids were examined, and then the applicability of the DNA methylation-based age prediction method to the forensic investigations was discussed. This will improve the understandings about DNA methylation markers and their potential to be used as biomarkers in the forensic field, as well as the clinical field.

• Journal of Periodontal and Implant Science
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• 제29권2호
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• pp.349-355
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• 1999

The present study has been performed to develop a PCR technology to identify human immunoglobulin(Ig) allotypes with restriction fragment length polymorphism(RFLP) using a probe. Genomic DNA were ampilified with PCR tecnology using primers from peripheral blood lymphocytes of 10 periodontal patiens, whose Ig allotypes have been pre-determined by serological tecnique using heagglutination technique. The result indicated that the RFLP patterns could successfully differentiate the Ig allotypes, which suggests that this technology can be developed as a tool useful for population genetics studies.

• Molecules and Cells
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• 제43권10호
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• pp.880-888
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• 2020

Inherited peripheral neuropathy is a heterogeneous group of peripheral neurodegenerative disorders including Charcot-Marie-Tooth disease. Many peripheral neuropathies often accompany impaired axonal construction and function. To study the molecular and cellular basis of axon-defective peripheral neuropathy, we explore the possibility of using Caenorhabditis elegans, a powerful nematode model equipped with a variety of genetics and imaging tools. In search of potential candidates of C. elegans peripheral neuropathy models, we monitored the movement and the body posture patterns of 26 C. elegans strains with disruption of genes associated with various peripheral neuropathies and compiled a database of their phenotypes. Our assay showed that movement features of the worms with mutations in HSPB1, MFN2, DYNC1H1, and KIF1B human homologues are significantly different from the control strain, suggesting they are viable candidates for C. elegans peripheral neuropathy models.

• 한국생물정보학회:학술대회논문집
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• 한국생물정보시스템생물학회 2005년도 BIOINFO 2005
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• pp.118-123
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• 2005

With the increasing availability of mammalian genome sequences it became possible to use large scale phylogenetic analysis in order to locate potentially functional regions. In this paper we describe a new probabilistic method for the characterization of phylogenetic conservation in mammalian DNA sequences. We have used this method for the analysis of Hox gene clusters, based on the alignment of 6 species, and we constructed a map of for indicating short and long conserved fragments and their positions with respect to the known locations of Hox genes and other elements, sometimes showing surprising layouts.

• BMB Reports
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• 제41권3호
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• pp.177-183
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• 2008

Ubiquitin is an essential, highly-conserved small regulatory protein in eukaryotic cells. It covalently modifies a wide variety of targeted proteins in the forms of monomer and polymers, altering the conformation and binding properties of the proteins and thus regulating proteasomal delivery, protein activities and localization. Mass spectrometry has emerged as an indispensable tool for in-depth characterization of protein ubiquitination. Ubiquitinated proteins in cell lysates are usually enriched by affinity chromatography and subsequently analyzed by mass spectrometry for identification and quantification. Ubiquitin-conjugated amino acid residues can be determined by unique mass shift caused by the modification. Moreover, the complex structure of polyubiquitin chains on substrates can be dissected by bottom-up and middle-down mass spectrometric approaches, revealing potential novel functions of polyubiquitin linkages. Here I review the advances and caveats of these strategies, emphasizing caution in the validation of ubiquitinated proteins and in the interpretation of raw data.

• BMB Reports
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• 제38권1호
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• pp.24-27
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• 2005

The role of 3' exonuclease excision in DNA polymerization was evaluated for primer extension using inert allele specific primers with exonuclease-digestible ddNMP at their 3' termini. Efficient primer extension was observed in amplicons where the inert allele specific primers and their corresponding templates were mismatched. However, no primer-extended products were yielded by matched amplicons with inert primers. As a control, polymerase without proofreading activity failed to yield primer extended products from inert primers regardless of whether the primers and templates were matched or mismatched. These data indicated that activation was undertaken for the inert allele specific primers through mismatch proofreading. Complementary to our previously developed SNP-operated on/off switch, in which DNA polymerization only occurs in matched amplicon, this new mutation detection assay mediated by $exo^+$ DNA polymerases has immediate applications in SNP analysis independently or in combination of the two assays.

• 한국동물번식학회:학술대회논문집
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• 한국동물번식학회 2002년도 춘계학술발표대회 발표논문초록집
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• pp.6-6
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• 2002

This study was conducted to investigate the effect of recipient activation time on the nuclear remodeling, chromatin structure, pronuclear formation and in vitro development of bovine nuclear transfer embryos derived from adult ear skin cells. Somatic cells were transferred to enucleated oocytes after quiescent treatments by serum starvation or culture to confluency. Nuclear transfer embryos were activated with a combination of Ca/sup 2+/-ionophore and cycloheximide at 1, 1.5, 2, 2.5, 3, and 5 h after electrofusion. (omitted)

• Journal of Genetic Medicine
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• 제5권2호
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• pp.100-104
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• 2008

DNA 메칠화는 인체에서 유전자 발현을 조절하는 epigenetic 기전 중 하나이다. Epigenetics 관점에서 볼 때 발생 과정에 있어서 두 번의 시기가 있는데 하나는 생식세포 생성 및 발달기이고 다른 하나는 배아 발생기이다. 본고에서는 메칠화의 기초 기작과 유전자 발현에서의 역할 및 배아 재프로그래밍에서의 메칠화의 역할에 대해서 논하고자 한다. 메칠화는 배아 발생에 있어서 매우 중요하며 발생의 기전을 연구하는데 매우 중요한 기전이니만큼 대단위 연구가 필요할 것으로 생각된다.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.27-32
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• 2013

Post-transcriptional nucleotide sequence modification of transcripts by RNA editing is an important molecular mechanism in the regulation of protein function and is associated with a variety of human disease phenotypes. Identification of RNA editing sites is the basic step for studying RNA editing. Databases and bioinformatics resources are used to annotate and evaluate as well as identify RNA editing sites. No method is free of limitations. Correctly establishing an analytic pipeline and strategic application of both experimental and bioinformatics methods constitute the first step in investigating RNA editing. This review summarizes modern bioinformatics approaches and related resources for RNA editing research.