No abstract available.
Coat Protein Complex I

No abstract available.
Coat Protein Complex I

Precise and reliable identification of CNV is still important to fully understand the effect of CNV on genetic diversity and background of complex diseases. SNP marker has been used frequently to detect CNVs, but the analysis of SNP chip data for identifying CNV has not been well established. We compared various normalization methods for CNV analysis and suggest optimal normalization procedure for reliable CNV call. Four normal Koreans and NA10851 HapMap male samples were genotyped using Affymetrix Genome-Wide Human SNP array 5.0. We evaluated the effect of median and quantile normalization to find the optimal normalization for CNV detection based on SNP array data. We also explored the effect of Robust Multichip Average (RMA) background correction for each normalization process. In total, the following 4 combinations of normalization were tried: 1) Median normalization without RMA background correction, 2) Quantile normalization without RMA background correction, 3) Median normalization with RMA background correction, and 4) Quantile ormalization with RMA background correction. CNV was called using SW-ARRAY algorithm. We applied 4 different combinations of normalization and compared the effect using intensity ratio profile, box plot, and MA plot. When we applied median and quantile normalizations without RMA background correction, both methods showed similar normalization effect and the final CNV calls were also similar in terms of number and size. In both median and quantile normalizations, RMA background correction resulted in widening the range of intensity ratio distribution, which may suggest that RMA background correction may help to detect more CNVs compared to no correction.
Coat Protein Complex I ; Genetic Variation ; HapMap Project ; Humans ; Male

Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome sequence. One of the major obstacles is the incompleteness of human reference genome. We tried to analyze the effect of hidden gene duplication on the NGS data using the known example of hydin gene. Hydin2 , a duplicated copy of hydin on chromosome 16q22, has been recently found to be localized to chromosome 1q21, and is not included in the current version of standard human genome reference. We found that all of eight personal genome data published so far do not contain hydin2, and there is large number of nsSNPs in hydin. The heterozygosity of those nsSNPs was significantly higher than expected. The sequence coverage depth in hydin gene was about two fold of average depth. We believe that these unique finding of hydin can be used as useful indicators to discover new hidden multiplication in human genome.
Coat Protein Complex I ; Gene Duplication ; Genome ; Genome, Human ; Humans

PURPOSE: Recently, orbital wall fracture is common injuries in the face. Facial CT is essential for the accurate diagnosis and appropriate treatment to reconstruct of the orbital wall. The objective of this study was to report the method for accurate measurement of area and shape of the bony defect in the blow-out fractures using facial CT in prior to surgery. METHODS: The authors experienced 46 cases of orbital wall fractures and examined for diplopia, sensory disturbance in the area of distribution of the infraorbital nerve, and enophthalmos in the preoperation and followed 1 months after surgery, from August 2007 to May 2008. Bony defect was predicted by measuring continuous defect size from 3mm interval facial CT. Copying from the defect model(template), we reconstructed orbital wall with resorbable sheet(Inion CPS(R), Inion Oy, Tampere, Finland). RESULTS: One months after surgery using this method, 26(100%) of the 26 patients improved in the diplopia and sensory disturbance in the area of distribution of the infraorbital nerve. Also 8(72.7%) of the 11 patients had enophthalmos took favorable turn. CONCLUSION: This accurate and time-saving method is practicable for determining the location, shape and size of the bony defect. Using this method, we can reconstruc
Coat Protein Complex I ; Diplopia ; Enophthalmos ; Humans ; Orbit ; Orbital Fractures

PURPOSE: Recently, orbital wall fracture is common injuries in the face. Facial CT is essential for the accurate diagnosis and appropriate treatment to reconstruct of the orbital wall. The objective of this study was to report the method for accurate measurement of area and shape of the bony defect in the blow-out fractures using facial CT in prior to surgery. METHODS: The authors experienced 46 cases of orbital wall fractures and examined for diplopia, sensory disturbance in the area of distribution of the infraorbital nerve, and enophthalmos in the preoperation and followed 1 months after surgery, from August 2007 to May 2008. Bony defect was predicted by measuring continuous defect size from 3mm interval facial CT. Copying from the defect model(template), we reconstructed orbital wall with resorbable sheet(Inion CPS(R), Inion Oy, Tampere, Finland). RESULTS: One months after surgery using this method, 26(100%) of the 26 patients improved in the diplopia and sensory disturbance in the area of distribution of the infraorbital nerve. Also 8(72.7%) of the 11 patients had enophthalmos took favorable turn. CONCLUSION: This accurate and time-saving method is practicable for determining the location, shape and size of the bony defect. Using this method, we can reconstruc
Coat Protein Complex I ; Diplopia ; Enophthalmos ; Humans ; Orbit ; Orbital Fractures

BACKGROUND: The interlocking pentagon drawing test, a part of the Mini-Mental State Examination (MMSE), is a widely used clinical practice to measure visuoconstructional ability of dementia patients. We investigated the anatomical structures of brain associated with pentagon drawing in subjects with mild to moderate Alzheimer's disease (AD) by using voxel-based morphometry (VBM). METHODS: Medical records of forty-four AD patients were reviewed and a 1.5 T SPGR 3D image data were used for VBM analysis. A voxel-based multiple regression analysis was used to investigate correlation between gray matter loss and pentagon drawing performance of AD patients. The correlations between pentagon drawing score and MMSE score were evaluated by Spearman correlation analysis. RESULTS: There was a positive correlation between the interlocking pentagon copying scores and the MMSE scores (r=0.448, p=0.002). The lower the scores of interlocking pentagon copying were, the more severe the atrophy of right inferior frontal gyrus became ([x, y, z]=[52, 39, 3], Broadmann area 45, and z score=3.86). CONCLUSIONS: The performance of interlocking pentagon drawing is associated with a general cognitive function in patients with mild-to-moderate Alzheimer's disease. It is also associated with the atrophy of the right inferior frontal gyrus.
Alzheimer Disease ; Atrophy ; Brain ; Coat Protein Complex I ; Dementia ; Humans ; Medical Records

Plagiarism, the use of text and ideas from published works without proper permission or citation, is difficult to detect since the whole text should be searched and compared to literature databases. Nevertheless, this process has become simpler with the advent of web-based technologies and more powerful search tools. Recently, a case of plagiarism was detected in an invited manuscript submitted to the Journal of the Korean Medical Association. In the withdrawn manuscript, there were figures and figure legends copied from other papers with neither permission nor citation. Only the citation is enough to use content, figures, or tables from other papers when the original journal is open access with Creative Commons License. Otherwise, to use such data, it is essential to obtain permission from that paper's journal publisher. If plagiarism is detected after publication, the author will face harsh disciplinary action before the office of research integrity in his or her institute. Also, the paper may be retracted by the editor. This is the first time that Editorial Board has detected plagiarism before publication. Screening for plagiarism and other ethical violations will continue so that we can pursue the status of the representative journal of Korean physicians and develop a positive reputation for Korean science internationally by maintaining the utmost quality and integrity in our publications.
Coat Protein Complex I ; Licensure ; Mass Screening ; Plagiarism ; Publications ; United States Office of Research Integrity

PURPOSE: Recently, two alternatively spliced survivin variants, survivin-DeltaEx3 and survivin-2B, were identified in a single copy of the survivin gene. It has been reported that the expressions of survivin splice variants significantly correlates with the clinical results in many types of human carcinoma. We investigated the transcription levels of survivin and its splice variants in human colorectal carcinomas, and analyzed correlations between survivin expression levels and clinicopathologic features. METHODS: We used Western blot and real-time quantitative reverse transcription polymerase chain reaction (RT-PCR) to analyze the protein and mRNA expression levels of survivin variants in 51 colorectal carcinomas. The quantitative RT-PCR was performed using primer pairs specific for survivin and each of its splice variants, then normalized for the gene that encodes glyceraldehydes-3-phosphate dehydrogenase. RESULTS: In Western blotting, the protein levels of survivin were higher in the tumor tissue than in normal tissue. The expression of survivin, survivin-2B and survivin-DeltaEx3 mRNA was present in 96%, 64.7%, and 82.4% of the samples, respectively. When the pathologic parameters were compared, colorectal cancers of advanced pT stages showed significant decrease in survivin-2B mRNA expression by the quantitative RT-PCR (P < 0.001). CONCLUSION: The decreased expression of survivin-2B might be related to tumor progression in colorectal cancers. This finding indicates that alternatively spliced variants of survivin may be involved in refining the functions of survivin during tumor progression.
Blotting, Western ; Coat Protein Complex I ; Colorectal Neoplasms ; Humans ; Polymerase Chain Reaction ; Reverse Transcription ; RNA, Messenger

In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery. Recently, a number of CNV defining algorithms from SNP genotyping data have been developed; however, due to the fundamental limitation of SNP genotyping data for the measurement of signal intensity, there are still concerns regarding the possibility of false discovery or low sensitivity for detecting CNVs. In this study, we aimed to verify the effect of combining multiple CNV calling algorithms and set up the most reliable pipeline for CNV calling with Affymetrix Genomewide SNP 5.0 data. For this purpose, we selected the 3 most commonly used algorithms for CNV segmentation from SNP genotyping data, PennCNV, QuantiSNP; and BirdSuite. After defining the CNV loci using the 3 different algorithms, we assessed how many of them overlapped with each other, and we also validated the CNVs by genomic quantitative PCR. Through this analysis, we proposed that for reliable CNV-based genomewide association study using SNP array data, CNV calls must be performed with at least 3 different algorithms and that the CNVs consistently called from more than 2 algorithms must be used for association analysis, because they are more reliable than the CNVs called from a single algorithm. Our result will be helpful to set up the CNV analysis protocols for Affymetrix Genomewide SNP 5.0 genotyping data.
Coat Protein Complex I ; DNA Copy Number Variations ; Genetic Variation ; Humans ; Polymerase Chain Reaction