92 research outputs found
Eine Untersuchung über Adornos Idee der Versöhnung mit der Natur
학위논문 (박사)-- 서울대학교 대학원 : 미학과, 2011.2. 신혜경.Docto
Long-term expression of the human glucocerebrosidase gene in vivo after transplantation of bone-marrow-derived cells transformed with a lentivirus vector
Background: Gaucher disease is a lysosomal storage disorder resulting from a deficiency of glucocerebrosidase (GC). Recently, lentivirus vectors have been developed for efficient gene transfer into hematopoietic stem cells (HSCs). A recombinant lentivirus vector was used to evaluate the transduction of the human GC gene into murine bone-marrow-derived HSCs and its expression in their progeny. Methods: Murine HSCs were transduced with lentivirus vector (lenti-EF-GC; MOI = 10-100). We transplanted female wild-type C57BL/6J mice with genetically modified male HSCs via the tail vein. Results: We show that intravenous transplantation of transduced HSCs has therapeutic potential. Enzyme activity was increased two- to three-fold in various tissues, especially in the hematopoietic system. Numerous transplanted HSCs survived for 6 months and were shown by PCR to contain the provirus genes; the Y chromosome was identified by FISH analysis in the cells of female mouse recipients. Conclusions: The recombinant lentiviral vector transduces HSCs that are capable of long-term gene expression in vivo. This approach is potentially useful for the treatment of patents with Gaucher disease and other lysosomal storage disorders. Copyright © 2005 John Wiley & Sons, Ltd
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene. In western populations, less than one-half of the affected individuals with EVA have two mutant SLC26A4 alleles, and EVA is frequently caused by unknown genetic or environmental factors alone or in combination with a single SLC26A4 mutation as part of a complex trait. In this study, we ascertained 26 Korean probands with EVA and performed nucleotide sequence analysis to detect SLC26A4 mutations. All subjects had bilateral EVA, and 20 of 26 were sporadic (simplex) cases. Fourteen different mutations were identified, including nine novel mutations. Five mutations were recurrent and accounted for 80% of all mutant alleles, providing a basis for the design and interpretation of cost-efficient mutation detection algorithms. Two mutant alleles were identified in 21 (81%), one mutant allele was detected in three (11%), and zero mutant allele was detected in two (8%) of 26 probands. The high proportion of Korean probands with two SLC26A4 mutations may reflect a reduced frequency of other genetic or environmental factors causing EVA in comparison to western populations. © Blackwell Munksgaard, 2004
A Study on Adaptive Synchronization Method for Network Systems
DoctorThis thesis proposes a robust adaptive controller design method for synchronization of network systems. We consider complex dynamical networks consisting of interconnected nodes, which have both uncertainty and disturbance. A fuzzy disturbance observer is used to estimate the uncertain factors without any prior knowledge about them. It is different from existing studies which need some information about the uncertain factors. The proposed control method globally asymptotically synchronizes all nodes in the network with a desired node using adaptation laws obtained by using Lyapunov stability theory. Two numerical examples are given to the effectiveness of our approach.Moreover, we investigate a synchronization problem for uncertain chaotic neural networks with the mixed time delays including time-varying and distributed delays. Uncertainty and disturbance in the network are estimated by fuzzy disturbance observer without any prior information about them, by applying update law for fuzzy parameter vector. The proposed control scheme with adaptive laws is derived based on Lyapunov-Krasovskii stability theory to guarantee the globally asymptotical synchronization between the networks. An example is illustrated to show the effectiveness of the proposed method
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene
Background: Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We demonstrated PAH mutational spectrum from patients with PKU, including 10 novel and 3 tetrahydrobiopterin (BH4)-responsive mutations. In this study, 11 PAH missense mutations, including 6 novel mutations (P69S, G103S, L293M, G332V, S391I, A447P) found in our previous study, 2 mutations common in east Asian patients with PKU (R243Q, R413P), and 3 tetrahydrobiopterin (BH 4)-responsive mutations (R53H, R241C, R408Q) have been functionally and structurally analyzed. Methods: A transient protein overexpression system and an in vitro BH4-responsiveness study were used. The effects of PAH missense mutations on the PAH protein structure were also analyzed. To determine the conservation of 12 mutated residues, PAH was aligned using BLAST against full genomic sequences of 221 different species. Model structures of PAH protein and the composite tetramer were constructed using the software program, SHEBA. Results: No PAH activity was detected for some mutants. However, the residual activities associated with other mutants ranged over a wide spectrum. The missense mutations responsive to BH4 were not highly conserved throughout the 43 species in the multiple sequence alignment that encode PAH. The composite model structure of PAH revealed that dimer stability was reduced in the BH4-responsive mutants, whereas tetramer stability remained normal. Conclusion: This expression study analyzed PAH mutations and model structures of mutant PAH proteins are proposed. Correlation between the proposed mutant PAH structures and functions are suggested. © 2005 Elsevier B.V. All rights reserved
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients
Charcot-Marie-Tooth disease 2A; Exome; Genotype-phenotype correlation; Korean; mitofusin
A Study on Calcification of the Mandibular Permanent Teeth As an Increase in Age in Mixed Dentition
치의학과/석사[영문]
[한글]
치아는 신체 다른 장기의 발생 및 성장의 경우보다 개인간의 차이 및 다양성이 휠씬 적
어 연령추정에 가장 적합한 조건을 가지고 있어 치아의 발육 및 성장에서 석회화 정도를
적용한 연령추정은 상당히 신뢰도가 높은 것으로 인정되어져 왔다.
저자는 한국인 혼합치열기 (만 6세-10세) 아동 50명 (남자 250명, 여자 250명)을 대상
으로 전체 상·하학의 상태 및 인접조직등을 동시에 한장의 사진에서 관찰할 수 있는 전
악곡면단층촬영사진(Orthopantomography)상에서 하악 전 치아의 석회화 정도를 남·녀 별
및 좌·우측별로 계측하여 연령추정에 적용시킬 수 있는 자료를 얻고자 시도한 바 이에
대한 다소의 의의있는 결론은 다음과 같다.
1. 연령 증가에 따른 각 치아들의 석회화 정도의 증가도는 대체적으로 비례적인 관계를
보였으며, 가장 규칙적인 석회화 증가를 보이는 만 6세에서 만 8세까지의 연령군이 연령
추정에 가장 유리하였다.
2. 같은 연렝에 있어서 남·녀 별 석회화 정도는 여자가 남자보다 비교적 빠른 증가도
를 보였다.
3. 좌·우측 치아의 석회화 정도의 비교에서는 인정할 만한 차이를 보이지 않았다.
4. 석회화 정도가 규칙 적으로 증가하여 연령추정에 적용시킬 수 있는 유리한 치아들의
순서는 제 1소구치, 견치, 제 2대구치, 측절치, 제 2소구치, 제 1대구치, 중절치 순이었
다.
5. 전악곡면단층촬영사진(Orthopantomograpy)상에 의한 석회화상이 제1, 2소구치 및 제
1, 2대구치 부위에서 선명도와 상세도가 뛰어나 석회화 정도의 계측이 용이하였다.
A STUDY ON CALCIFICATION OF THE MANDIBULAR PERMANENT TEETH AS AN INCREASE IN AGE IN
MIXED EDNTITION
Sung Chul Chung, D.D.S.
Dept. of Orgl Diagnosis, Cortege of Dentistry, Yon sei University
(Led. by Prof. Chang Youl Kim, D.D.S., Ph.D.)
Surveying the calcification length and rate of the mandibular permanent teeth in
500 Korean Children (M: 250, F: 250) from 6 to 10 Years old (mixed dentition) by
Orthopantomography, the author got the following results ;
1. Rates of calcification as an increase in age are shown proportionally
increasing aspect and 6∼8 age groups are the most advantageous in age presumption.
2. Female is faster than male in the same age.
3. The rate of calcification are not shown remarkble difference between right &
left teeth.
4. The sequence of tooth in advantageous age presumption; the 1st. premolar,
canine, 2nd. molar, lateral incisor, 2nd. premolar, 1st. molar, central incisor.
5. Measuring Of Calcification Of the lst. & 2nd. premolar an4 1st. & 2nd. molar
was easier than other teeth, because of their superior definition and detail in the
orthopantomography.restrictio
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