• Anatomy and Cell Biology
• /
• v.56 no.1
• /
• pp.145-149
• /
• 2023

Agenesis or congenital hypoplasia of skeletal muscles occurs infrequently but may occur with specific conditions such as Poland syndrome. The trapezius muscle can vary in the extent of its bony attachments or may have additional slips, however congenital absence or hypoplasia is extremely rare. There are only a few reports of partial or complete absence of the trapezius muscle. Two cases of bilateral absence of the trapezius were both in males and were accompanied by the absence of additional muscle in the pectoral girdle. Herein, we describe a case of a 56-year-old male cadaver with bilateral hypoplasia of the trapezius. The muscle was largely represented by atrophied muscle fibers with an abundance of fibrotic or fatty connective tissue. This subject had very minor hypoplasia of the left pectoralis major muscle, but the remaining muscles of the pectoral girdle were normal. The spinal accessory nerve terminated in the sternocleidomastoid muscle on both sides, failing to reach the trapezius. We interpret these findings to be consistent with a minor variant of Poland syndrome.

• The Korean Journal of Physiology and Pharmacology
• /
• v.19 no.4
• /
• pp.319-325
• /
• 2015

Among solute carrier proteins, the organic anion transporters (OATs) play an important role for the elimination or reabsorption of endogenous and exogenous negatively charged anionic compounds. Among OATs, SLC22A9 (hOAT7) transports estrone sulfate with high affinity. The net decrease of estrogen, especially in post-menopausal women induces rapid bone loss. The present study was performed to search the SNP within exon regions of SLC22A9 in Korean females with osteoporosis. Fifty healthy controls and 50 osteoporosis patients were screened for the genetic polymorphism in the coding region of SLC22A9 using GC-clamped PCR and denaturing gradient gel electrophoresis (DGGE). Six SNPs were found on the SLC22A9 gene from Korean women with/without osteoporosis. The SNPs were located as follows: two SNPs in the osteoporosis group (A645G and T1277C), three SNPs in the control group (G1449T, C1467T and C1487T) and one SNP in both the osteoporosis and control groups (G767A). The G767A, T1277C and C1487T SNPs result in an amino acid substitution, from synonymous vs nonsynonymous substitution arginine to glutamine (R256Q), phenylalanine to serine (F426S) and proline to leucine (P496L), respectively. The Km values and Vmax of the wild type, R256Q, P496L and F426S were 8.84, 8.87, 9.83 and $12.74{\mu}M$, and 1.97, 1.96, 2.06 and 1.55 pmol/oocyte/h, respectively. The present study demonstrates that the SLC22A9 variant F426S is causing inter-individual variation that is leading to the differences in transport of the steroid sulfate conjugate (estrone sulfate) and, therefore this could be used as a marker for certain disease including osteoporosis.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.3
• /
• pp.837-846
• /
• 2012

Breast cancer (BCa) is the leading type of cancer in Mexican women. Genetic factors, such as single nucleotide polymorphisms (SNP) of P450 system, have been reported in BCa. In this report, and for the first time in the literature, we analyzed the rs3735684 (7021 G>A), rs11553651 (15016 G>T) and rs56195291 (60020 C>G) polymorphisms in the CYP2W1, 4F11 and 8A1 genes in patients with BCa and in healthy Mexican women to identify a potential association between these polymorphisms and BCa risk. Patients and controls were used for polymorphism analysis using an allelic discrimination assay with TaqMan probes and confirmed by DNA sequencing. Links with clinic-pathological characteristics were also analyzed. Statistical analysis was performed using the standard ${\chi}^2$ or Fisher exact test statistic. No significant differences were observed in the distributions of CYP2W1 (OR 8.6, 95%CI 0.43-172.5 P>0.05; OR 2.0, 95%CI 0.76-5.4, P>0.05) and CYP4F11 (OR 0.3, 95%CI 0.01-8.4 P>0.05) genotypes between the patients and controls. Only the CYP8A1 CC genotype was detected in patients with BCa and the controls. All polymorphism frequencies were in Hardy-Weinberg Equilibrium (HWE) in the controls (P>0.05). We found a significant association between BCa risk and smoking, use of oral contraceptives or hormonal replacement therapy (HRT), obesity, hyperglycemia, chronic diseases, family history of cancer and menopausal status in the population studied (P<0.05). Tobacco, oral contraceptive or HRT, chronic diseases and obesity or overweight were strongly associated with almost eight, thirty-five, nine and five-fold increased risk for BCa. Tobaco, obesity and hyperglycemia significantly increased the risk of BCa in the patients carrying variant genotypes of CYP2W1 (P<0.05). These results indicate that the CYP2W1 rs3735684, CYP4F11 rs11553651 and CYP8A1 rs56195291 SNPs are not a key risk factor for BCa in Mexican women. This study did not detect an association between the CYP2W1, 4F11 and 8A1 genes polymorphisms and BCa risk in a Mexican population. However, some clinico-pathological risk factors interact with CYP2W1 genotypes and modifies susceptibility to BCa.

• Journal of Plant Biotechnology
• /
• v.44 no.1
• /
• pp.27-34
• /
• 2017

Our aim was to find the effective duration and culture conditions for microspore culture in a genetically variant cabbage (Brassica oleraceae L. var. capitata). We discovered that the '$2{\times}NLN$ medium containing $AgNO_3$ 1 mg/l, sucrose 13%' was most efficient in producing the cabbage embryos. The number of induced embryos was higher in $F_2$ or $F_3$ progeny generation than the $F_1$ hybrid cultivar used as plant materials. Thus, we recommend microspore culturing using progeny plants of failed $F_1$ cultivar. The acquisition ratio of embryos and plants derived from microspore was higher in the early flowering period as compared to the late flowering period. When transplanted in the soil, 71.2% plants developed from the early flowering period, compared to 27.0% from the middle period and 1.8% plants from the late period. Thus, we recommend microspore culture using buds collected during the early flowering period.

• Asian-Australasian Journal of Animal Sciences
• /
• v.9 no.6
• /
• pp.685-693
• /
• 1996

A total of 3,610 Ayrshire and 1,711 Jersey cows were phenotyped for the genetic variants of ${\alpha}_{s1}$-casein, ${\beta}$-casein, $\chi$-casein, ${\beta}$-lactoglobulin and ${\alpha}$-lactalbumin. Least squares analyses showed possible associations between milk protein phenotypes and lactational production traits. Depending on lactation number, ${\beta}$-casein phenotypes in Ayrshires were associated with milk production ($A^2A^2$ > $A^1A^2$ > $A^1A^1$), and with milk protein content. In the third lactation, Ayrshire cows with ${\beta}$-casein $A^1A^1$ produced milk with 3.43% fat compared to 3.37% fat for ${\beta}$-casein $A^2A^2$. In Ayrshire, $\chi$-casein phenotypes affected the protein content during the three lactations (BB > AB > AA) and ${\beta}$-lactoglobulin phenotypes significantly influenced the milk fat during the first lactation (4.06% for AA and 3.97% for BB). In Jerseys, protein content of milk was influenced by phenotypes of ${\alpha}_{s1}$-casein(3.98% for CC v/s 3.86% for BB in the first lactation). In the third lactation, $\chi$-casein AA of Jersey milk contained 5.35% fat compared to 4.82% for phenotype BB. The effects of ${\beta}$-lactoglobulin phenotypes on protein content were apparent in Jerseys during the second lactation with the A variant being superior to the B (4.00% for AA v/s 3.87% for BB).

• The Korean Journal of Physiology and Pharmacology
• /
• v.21 no.1
• /
• pp.11-17
• /
• 2017

Crohn's disease (CD) is a chronic inflammatory bowel disease with multifactorial causes including environmental and genetic factors. Several studies have demonstrated that the organic cation/carnitine transporter 1 (OCTN1) non-synonymous variant L503F is associated with susceptibility to CD. However, it was reported that L503F is absent in Asian populations. Previously, we identified and functionally characterized genetic variants of the OCTN1 promoter region in Koreans. In that study, four variants demonstrated significant changes in promoter activity. In the present study, we determined whether four functional variants of the OCTN1 promoter play a role in the susceptibility to or clinical course of CD in Koreans. To examine it, the frequencies of the four variants of the OCTN1 promoter were determined by genotyping using DNA samples from 194 patients with CD and 287 healthy controls. Then, associations between genetic variants and the susceptibility to CD or clinical course of CD were evaluated. We found that susceptibility to CD was not associated with OCTN1 functional promoter variants or haplotypes showing altered promoter activities in in vitro assays. However, OCTN1 functional promoter haplotypes showing decreased promoter activities were significantly associated with a penetrating behavior in CD patients (HR=2.428, p=0.009). Our results suggest that the OCTN1 functional promoter haplotypes can influence the CD phenotype, although these might not be associated with susceptibility to this disease.

• Development and Reproduction
• /
• v.23 no.4
• /
• pp.333-344
• /
• 2019

In vertebrate reproductive system, estrogen receptor (ER) plays a pivotal role in mediation of estrogenic signaling pathways. In the present study, we report the cDNA cloning, expression analysis, and transcriptional activity of ERβ1 subtype from medaka Oryzias dancena. The deduced O. dancena ERβ1 (odERβ1; 519 amino acids) contained six characteristic A/B to E/F domains with very short activation function 2 region (called AF2). A phylogenetic analysis indicated that odERβ1 was highly conserved among teleost ERβ1 subgroup. A conventional RT-PCR revealed that the odERβ1 transcripts were widely distributed in the multiple tissues, the ovary, brain, gill, intestine, kidney, and muscle. Further, the relatively higher odERβ1 expressions in the ovary and brain were clearly reproduced in RT-qPCR assay. When HA-fused odERβ1 expression vector was transfected into HEK293 cells, an immunoreactivity for odERβ1 was mainly detected in the nucleus part. Finally, an estrogen responsive element driven luciferase reporter assays demonstrated that the transcriptional activity of odERβ1 significantly increased by estradiol-17β (E2) in a dose dependent manner (p<0.05). However, fold-activation of odERβ1 in the presence of E2 was markedly weak, when it compared with those of O. latipes ERβ1. Taken together, these data suggest that odERβ1 represents a functional variant of teleost ERβ subtype and provides a basic tool allowing future studies examining the function of F domain of ERβ1 subtype and expanding our knowledge of ERβ evolution.

• The Journal of Engineering Geology
• /
• v.16 no.2 s.48
• /
• pp.161-169
• /
• 2006

A short seismic reflection survey was performed to map the basement and the upper units in the Gomso Bay. This research was mainly aimed at clarifying the basement by improving the signal-to-noise ratio in data processing steps. The strategies employed in this research included enhancement of the signal interfered with large-amplitude noise, through pre- and post-stack processing such as time-variant filtering, bad trace edit, careful muting after f-k filter and NMO correction. The subsurface structure mapped from this survey mainly consists of the top of basement and the upper three units, which were well correlated to the result from the previously conducted MT survey. Furthermore seismic section clarifies approximately 30m deep subhorizontal event of the top of the basement, which was not shown in the central portion of the MT section due to data qualify.

• The Journal of Korea Institute of Information, Electronics, and Communication Technology
• /
• v.16 no.3
• /
• pp.161-166
• /
• 2023

In recent years, new and variant hacking of binary codes has increased, and the limitations of techniques for detecting malicious codes in source programs and defending against attacks are often exposed. Advanced software security vulnerability detection technology using machine learning and deep learning technology for binary code and defense and response capabilities against attacks are required. In this paper, we propose a malware clustering method that groups malware based on the characteristics of the taint information after entering dynamic taint information by tracing the execution path of binary code. Malware vulnerability detection was applied to a three-layered Few-shot learning model, and F1-scores were calculated for each layer's CPU and GPU. We obtained 97~98% performance in the learning process and 80~81% detection performance in the test process.

• Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
• /
• 2001.07a
• /
• pp.323-326
• /
• 2001

NI$_2$MnGa-based ferromagnetic shape memory alloys (FSMA) are hoped to be used as robust actuators with high performance and power density, as a replacement of other actuation materials such as thermo-mechanical SMAs and mechanical-electric piezoelectrics. Recently, we have observed significant shape changes under magnetic field application when single- and poly-crystalline forms are used. In the present study, two mechanisms have been proposed to predict the magnetic field-induced shape change as a function of external magnetic field at temperatures below Mr and above Ar. In the case of the field-induced shape change at temperature below M$_{f}$, paired martensite variants are assumed to form by application of magnetic field. The direction of magnetization in martensites formed in austenite matrix is assumed to be parallel to the applied magnetic field in the case of shape change by application at temperature above Af. Various energies has been considered in the shape change under two mechanisms.s.