• Title/Summary/Keyword: skeletal development

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Congenital muscular dystrophy type 1A with residual merosin expression

  • Kim, Hyo Jeong;Choi, Young-Chul;Park, Hyung Jun;Lee, Young-Mock;Kim, Heung Dong;Lee, Joon Soo;Kang, Hoon-Chul
    • Clinical and Experimental Pediatrics
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    • v.57 no.3
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    • pp.149-152
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    • 2014
  • Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin ${\alpha}2$ (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin ${\alpha}2$)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

Genetic Effects of Polymorphisms in Myogenic Regulatory Factors on Chicken Muscle Fiber Traits

  • Yang, Zhi-Qin;Qing, Ying;Zhu, Qing;Zhao, Xiao-Ling;Wang, Yan;Li, Di-Yan;Liu, Yi-Ping;Yin, Hua-Dong
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.6
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    • pp.782-787
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    • 2015
  • The myogenic regulatory factors is a family of transcription factors that play a key role in the development of skeletal muscle fibers, which are the main factors to affect the meat taste and texture. In the present study, we performed candidate gene analysis to identify single-nucleotide polymorphisms in the MyoD, Myf5, MyoG, and Mrf4 genes using polymerase chain reaction-single strand conformation polymorphism in 360 Erlang Mountain Chickens from three different housing systems (cage, pen, and free-range). The general linear model procedure was used to estimate the statistical significance of association between combined genotypes and muscle fiber traits of chickens. Two polymorphisms (g.39928301T>G and g.11579368C>T) were detected in the Mrf4 and MyoD gene, respectively. The diameters of thigh and pectoralis muscle fibers were higher in birds with the combined genotypes of GG-TT and TTCT (p<0.05). Moreover, the interaction between housing system and combined genotypes has no significant effect on the traits of muscle fiber (p>0.05). Our findings suggest that the combined genotypes of TT-CT and GG-TT might be advantageous for muscle fiber traits, and could be the potential genetic markers for breeding program in Erlang Mountain Chickens.

Characterization of the Methylation Status of Pax7 and Myogenic Regulator Factors in Cell Myogenic Differentiation

  • Chao, Zhe;Zheng, Xin-Li;Sun, Rui-Ping;Liu, Hai-Long;Huang, Li-Li;Cao, Zong-Xi;Deng, Chang-Yan;Wang, Feng
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.7
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    • pp.1037-1043
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    • 2016
  • Epigenetic processes in the development of skeletal muscle have been appreciated for over a decade. DNA methylation is a major epigenetic modification important for regulating gene expression and suppressing spurious transcription. Up to now, the importance of epigenetic marks in the regulation of Pax7 and myogenic regulatory factors (MRFs) expression is far less explored. In the present study, semi-quantitative the real-time polymerase chain reaction (RT-PCR) analyses showed MyoD and Myf5 were expressed in activated and quiescent C2C12 cells. MyoG was expressed in a later stage of myogenesis. Pax7 was weakly expressed in differentiated C2C12 cells. To further understand the regulation of expression of these genes, the DNA methylation status of Pax7, MyoD, and Myf5 was determined by bisulfite sequencing PCR. During the C2C12 myoblasts fusion process, the changes of promoter and exon 1 methylation of Pax7, MyoD, and Myf5 genes were observed. In addition, an inverse relationship of low methylation and high expression was found. These results suggest that DNA methylation may be an important mechanism regulating Pax7 and MRFs transcription in cell myogenic differentiation.

Multiscale Clustering and Profile Visualization of Malocclusion in Korean Orthodontic Patients : Cluster Analysis of Malocclusion

  • Jeong, Seo-Rin;Kim, Sehyun;Kim, Soo Yong;Lim, Sung-Hoon
    • International Journal of Oral Biology
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    • v.43 no.2
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    • pp.101-111
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    • 2018
  • Understanding the classification of malocclusion is a crucial issue in Orthodontics. It can also help us to diagnose, treat, and understand malocclusion to establish a standard for definite class of patients. Principal component analysis (PCA) and k-means algorithms have been emerging as data analytic methods for cephalometric measurements, due to their intuitive concepts and application potentials. This study analyzed the macro- and meso-scale classification structure and feature basis vectors of 1020 (415 male, 605 female; mean age, 25 years) orthodontic patients using statistical preprocessing, PCA, random matrix theory (RMT) and k-means algorithms. RMT results show that 7 principal components (PCs) are significant standard in the extraction of features. Using k-means algorithms, 3 and 6 clusters were identified and the axes of PC1~3 were determined to be significant for patient classification. Macro-scale classification denotes skeletal Class I, II, III and PC1 means anteroposterior discrepancy of the maxilla and mandible and mandibular position. PC2 and PC3 means vertical pattern and maxillary position respectively; they played significant roles in the meso-scale classification. In conclusion, the typical patient profile (TPP) of each class showed that the data-based classification corresponds with the clinical classification of orthodontic patients. This data-based study can provide insight into the development of new diagnostic classifications.

Bone-like Apatite Formation on Ti-6Al-4V in Solution Containing Mn, Mg, and Si Ions after Plasma Electrolytic Oxidation in the SBF Solution

  • Lim, Sang-Gyu;Choe, Han Cheol
    • Proceedings of the Korean Institute of Surface Engineering Conference
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    • 2017.05a
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    • pp.157-157
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    • 2017
  • Titanium and its alloys that have a good biocompatibility, corrosion resistance, and mechanical properties such as hardness and wear resistance are widely used in dental and orthopedic implant applications. They can directly connect to bone. However, they do not form a chemical bond with bone tissue. Plasma electrolytic oxidation (PEO) that combines the high voltage spark and electrochemical oxidation is a novel method to form ceramic coatings on light metals such as titanium and its alloys. This is an excellent reproducibility and economical, because the size and shape control of the nano-structure is relatively easy. Silicon (Si), manganese (Mn), and magnesium (Mg) has a useful to bone. Particularly, Si has been found to be essential for normal bone, cartilage growth and development. Manganese influences regulation of bone remodeling because its low content in body is connected with the rise of the concentration of calcium, phosphates and phosphatase out of cells. Insufficience of Mn in human body is probably contributing cause of osteoporosis. Pre-studies have shown that Mg plays very important roles in essential for normal growth and metabolism of skeletal tissue in vertebrates and can be detected as minor constituents in teeth and bone. The objective of this work was to study nucleation and growth of bone-like apatite formation on Ti-6Al-4V in solution containing Mn, Mg, and Si ions after plasma electrolytic oxidation. Anodized alloys was prepared at 270V~300V voltages. And bone-like apatite formation was carried out in SBF solution for 1, 3, 5, and 7 days. The morphologies of PEO-treated Ti-6Al-4V alloy in containing Mn, Mg, and Si ions were examined by FE-SEM, EDS, and XRD.

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Electrochemical Behavior of Plasma Electrolytic Oxidized Films Formed in Solution Containing Mn, Mg and Si Ions

  • Lim, Sang-Gyu;Choe, Han Cheol
    • Proceedings of the Korean Institute of Surface Engineering Conference
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    • 2017.05a
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    • pp.80-80
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    • 2017
  • Titanium and its alloys that have a good biocompatibility, corrosion resistance, and mechanical properties such as hardness and wear resistance are widely used in dental and orthopedic implant applications. However, they do not form a chemical bond with bone tissue. Plasma electrolytic oxidation (PEO) that combines the high voltage spark and electro-chemical oxidation is a novel method to form ceramic coatings on light metals such as tita-nium and its alloys. This is an excellent re-producibility and economical, because the size and shape control of the nano-structure is relatively easy. Silicon (Si), manganese (Mn), and magne-sium (Mg) have a useful to bone. Particularly, Si has been found to be essential for normal bone, cartilage growth, and development. Mn influences regulation of bone remodeling be-cause its low content in body is connected with the rise of the concentration of calcium, phosphates and phosphatase out of cells. Pre-studies have shown that Mg plays very im-portant roles in essential for normal growth and metabolism of skeletal tissue in verte-brates and can be detected as minor constitu-ents in teeth and bone. In this study, Electrochemical behavior of plasma electrolytic oxidized films formed in solution containing Mn, Mg and Si ions were researched using various experimental in-struments. A series of Si-Mn-Mg coatings are produced on Ti dental implant using PEO, with the substitution degree, respectively, at 5 and 10%. The potentiodynamic polarization and AC impedance tests for corrosion behav-iors were carried out in 0.9% NaCl solution at similar body temperature using a potentiostat with a scan rate of 1.67mV/s and potential range from -1500mV to + 2000mV. Also, AC impedance was performed at frequencies anging from 10MHz to 100kHz for corrosion resistance.

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Si and Mg Coatings on the Hydroxyapatite Film Formed Ti-29Nb-xHf Alloys by Plasma Electrolyte Oxidation

  • Park, Seon-Yeong;Choe, Han-Cheol
    • Proceedings of the Korean Institute of Surface Engineering Conference
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    • 2017.05a
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    • pp.152-152
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    • 2017
  • Titanium and its alloys have been widely used for biomedical applications. However, the use of the Ti-6Al-4V alloy in biomaterial is then a subject of controversy because aluminum ions and vanadium oxide have potential detrimental influence on the human body due to vanadium and aluminum. Hence, recent works showed that the synthesis of new Ti-based alloys for implant application involves more biocompatible metallic alloying element,such as, Nb, Hf, Zr and Mo. In particular, Nb and Hf are one of the most effective Ti ${\beta}$-stabilizer and reducing the elastic modulus. Plasma electrolyte oxidation (PEO) is known as excellent method in the biocompatibility of biomaterial due to quickly coating time and controlled coating condition. The anodized oxide layer and diameter modulation of Ti alloys can be obtained function of improvement of cell adhesion. Silicon (Si) and magnesium (Mg) has a beneficial effect on bone. Si in particular has been found to be essential for normal bone and cartilage growth and development. In vitro studies have shown that Mg plays very important roles in essential for normal growth and metabolism of skeletal tissue in vertebrates and can be detected as minor constituents in teeth and bone. Therefore, in this study, Si and Mg coatings on the hydroxyapatite film formed Ti-29Nb-xHf alloys by plasma electrolyte oxidation has been investigated using several experimental techniques. Ti-29Nb-xHf (x= 0, 3, 7 and 15wt%, mass fraction) alloys were prepared Ti-29Nb-xHf alloys of containing Hf up from 0 wt% to 15 wt% were melted by using a vacuum furnace. Ti-29Nb-xHf alloys were homogenized for 2 hr at $1050^{\circ}C$. The electrolyte was Si and Mg ions containing calcium acetate monohydrate + calcium glycerophosphate at room temperature. The microstructure, phase and composition of Si and Mg coated oxide surface of Ti-29Nb-xHf alloys were examined by FE-SEM, EDS, and XRD.

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Morphological measurement of the sternum and ribs of fetuses and neonates in Korean native goats (Capra hircus) (한국재래산양 태아와 신생아의 흉골과 늑골 크기에 관한 연구)

  • Kim, Chong-Sup;Koh, Phil-Ok;Cho, Gyu-Hyen;Lee, Jong-Hwan;Won, Chung-Kil
    • Korean Journal of Veterinary Research
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    • v.45 no.4
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    • pp.451-456
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    • 2005
  • This study was carried out to investigate the skeletal measurement of the sternum and ribs at 60-, 90-, 120-day-old fetuses and neonates of Korean native goats. The total length and width of the ossified part of the sternebrae and ribs were observed at 60-, 90-, 120-day-old fetuses and neonates. The ossification of the ribs from the 1st to the 8th rib was observed in 60-day-old fetuses, but not observed from the 9th to the last rib. In the 90-day-old fetuses, all ribs were observed having ossified parts. In the 60-day-old fetuses, all sternebrae were not observed having ossified parts. All sternebrae were observed having ossified parts in the 90-day-old fetuses. In the 90-day-old fetuses, the length of the ossified parts of each sternebrae was longer than its width. In the 120-day-old fetuses and neonates, the length of the ossified parts of the 1st, 2nd, and 7th sternebrae was longer than its width, but the width of from the 3rd to 6th sternebrae was longer than the length.

Development of Exoskeleton-Type Data Glove for Position/Force Feedback (위치/힘 피드백이 가능한 외골격 구조의 데이터 글로브 개발)

  • Kim, Min-Jeong;Kim, Dae-Gyeong;Park, Han-Gil;Kim, Ui-Kyum;Choi, Byung-June;Choi, Hyouk-Ryeol
    • Transactions of the Korean Society of Mechanical Engineers A
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    • v.35 no.12
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    • pp.1585-1591
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    • 2011
  • In this paper, we present a new exoskeleton-type data glove that can sense the movement of the human finger and reflect the force to the finger. The data glove is designed on the basis of the skeletal structure of the human hand, and the finger module has 1 degree-of-freedom because it includes three four-bar mechanism joints in series and a wire-coupling mechanism. In addition, the transmission ratio of the finger module is maintained at 1:1.4:1 over the entire movement range, and hence, the module can perform both extension and flexion. In addition, to enable adduction/abduction motion of the human hand, a unique MCP joint is designed by using two universal joints. To validate the feasibility of the data glove, master-slave control experiments based on force-position control between the data glove and the robot hand are conducted.

Downstream Networking of $Zap70$ in Meiotic Cell Cycle of the Mouse Oocytes

  • Kim, Hyun-Jung;Lee, Hyun-Seo;Kim, Eun-Young;Lee, Kyung-Ah
    • Development and Reproduction
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    • v.16 no.1
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    • pp.59-67
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    • 2012
  • Previously, we found that $Zap70$ (Zeta-chain-associated protein kinase) expressed in the mouse oocytes and played significant role in completion of meiosis specifically at MI-MII (metaphase I-II) transition. Microinjection of $Zap70$ dsRNA into the cytoplasm of germinal vesicle oocyte resulted in MI arrest, and exhibited abnormalities in their spindles and chromosome configurations. The purpose of this study was to determine the mechanisms of action of $Zap70$ in oocyte maturation by evaluating downstream signal networking after $Zap70$ RNAi (RNA interference). The probe hybridization and data analysis were used by Affymetrix Gene Chip Mouse Genome 430 2.0 array and GenPlex 3.0 (ISTECH, Korea) software, respectively. Total 1,152 genes were up (n=366) and down (n=786) regulated after $Zap70$ RNAi. Among those genes changed, we confirmed the expressional changes of the genes involved in the regulation of actin cytoskeleton and MAPK (mitogen-activated protein kinase) signaling pathway, since the phenotypes of $Zap70$ RNAi in oocytes were found in the changes in the chromosome separation and spindle structures. We confirmed the changes in gene expression in the actin skeletal system as well as in the MAPK signaling pathway, and concluded that these changes are main cause of the aberrant chromosome arrangement and abnormal spindles after $Zap70$ RNAi.