• 제목/요약/키워드: Deletion

검색결과 1,562건 처리시간 0.026초

The Complementizer That-Deletion in English

  • Kim, Yangsoon
    • International Journal of Advanced Culture Technology
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    • 제9권3호
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    • pp.112-116
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    • 2021
  • The aim of this study is to analyze the complementizer that-deletion in embedded complement clauses in English. This paper is concerned with the alternation between the overt that-complementizer and the zero complementizer by the complementizer deletion (C-deletion or that-deletion) in constructions with a nominal complement that-clause, i.e. [VP Verb [CP that-TP]]. In this paper, we compare that-complementation and zero-complementation in a diachronic grammaticalization and corpus, and show that the complementizer that has its origin in pronouns diachronically and finally becomes to form a C-head of the functional category CP. We provide the syntactic and semantic explanation on the optionality of that-deletion while answering the question why and how that-deletion is getting increasing in use especially with the verb, think, in the informal contexts. With the major causes for the currently increasing use of that-deletion, we are concerned with the contexts in which the overt complementizers or the covert complementizers are preferred.

Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome

  • Yeonmi Lee;Jongsuk Han;Sae-Byeok Hwang;Soon-Suk Kang;Hyeoung-Bin Son;Chaeyeon Jin;Jae Eun Kim;Beom Hee Lee;Eunju Kang
    • BMB Reports
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    • 제56권8호
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    • pp.463-468
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    • 2023
  • Screening for genetic defects in the cells should be examined for clinical application. The Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes, which could induce systemic large-scale mitochondrial genome (mtDNA) deletion. We investigated iPSCs with mtDNA deletions in PS patient and whether deletion levels could be maintained during differentiation. The iPSC clones derived from skin fibroblasts (9% deletion) and blood mononuclear cells (24% deletion) were measured for mtDNA deletion levels. Of the 13 skin-derived iPSC clones, only 3 were found to be free of mtDNA deletions, whereas all blood-derived iPSC clones were found to be free of deletions. The iPSC clones with (27%) and without mtDNA deletion (0%) were selected and performed in vitro and in vivo differentiation, such as embryonic body (EB) and teratoma formation. After differentiation, the level of deletion was retained or increased in EBs (24%) or teratoma (45%) from deletion iPSC clone, while, the absence of deletions showed in all EBs and teratomas from deletion-free iPSC clones. These results demonstrated that non-deletion in iPSCs was maintained during in vitro and in vivo differentiation, even in the presence of nuclear mutations, suggesting that deletion-free iPSC clones could be candidates for autologous cell therapy in patients.

Prenatal diagnosis of 5p deletion syndrome: A case series report

  • Han, You Jung;Kwak, Dong Wook
    • Journal of Genetic Medicine
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    • 제14권1호
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    • pp.34-37
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    • 2017
  • 5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.

INDUCTION OF MITOCHONDRIAL DNA DELETION BY IONIZING RADIATION IN HUMAN LUNG FIBROBLAST IMR-90 CELLS

  • Eom, Hyeon-Soo;Jung, U-Hee;Park, Hae-Ran;Jo, Sung-Kee
    • Journal of Radiation Protection and Research
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    • 제34권2호
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    • pp.49-54
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    • 2009
  • Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging and also contributes to their unfavorable effects in cultured cells and animal tissues. This study was conducted to investigate the effect of ionizing radiation (IR) on mtDNA deletion and the involvement of reactive oxygen species (ROS) in this process in human lung fibroblast (IMR-90) cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated with $^{137}Cs$ $\gamma$-rays and the intracellular ROS level was determined by 2',7'-dichlorofluorescein diacetate (DCFH-DA) and mtDNA common deletion (4977bp) was detected by nested PCR. Old cells at PD 55 and $H_2O_2$-treated young cells were compared as the positive control. IR increased the intracellular ROS level and mtDNA 4977 bp deletion in IMR-90 cells dose-dependently. The increases of ROS level and mtDNA deletion were also observed in old cells and $H_2O_2$-treated young cells. To confirm the increased ROS level is essential for mtDNA deletion in irradiated cells, the effects of N-acetylcysteine (NAC) on IRinduced ROS and mtDNA deletion were examined. 5 mM NAC significantly attenuated the IR-induced ROS increase and mtDNA deletion. These results suggest that IR induces the mtDNA deletion and this process is mediated by ROS in IMR-90 cells.

우리말 어휘빈도 정보와 분절음 탈락의 관련성에 대한 연구 (Correlation between the frequency of word and the deletion of segment)

  • 차재은
    • 대한음성학회지:말소리
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    • 제47호
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    • pp.1-13
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    • 2003
  • The purpose of this paper is to research the correlation between frequency and the deletion of /w, (equation omitted)/ in Korean. For this purpose, I select 11 words from the frequency data, then, analyze the speech of 20 speakers of standard Korean. As a result, I can find that there is correlation between the frequency and the deletion rate of segment. The rate of deletion is higher in high frequency words, while the rate of realization is higher in low frequency words. Although there is correlation between the frequency and the deletion rate of segment, the feature of segment, prosodic environments are more important in segment deletion.

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Deletion or Duplication Syndromes of Chromosome 22: Review

  • Kyung Ran Jun
    • Journal of Interdisciplinary Genomics
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    • 제6권1호
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    • pp.1-5
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    • 2024
  • Chromosome 22 is an acrocentric chromosome containing 500-600 genes, representing 1.5%-2% of the total DNA in cells. It was the first human chromosome to be fully sequenced by the Human Genome Project. Several syndromes involving the partial deletion or duplication of chromosome 22 are well descibed, including 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q11.2 distal deletion syndrome, Phelan-McDermid syndrome caused by a 22q13 deletion or pathogenic variant in SHANK3, and cat-eye syndrome caused by a 22 pter-q11 duplication. This review aims to provide concise information on the clinical characteristics of these syndromes. In particular, the similarities in features among these syndromes, genetic basis, and standard detection techniques are described, providing guidance for diagnosis and genetic counselling.

glpD와 glpE 유전자의 조절영역 결손변이주가 전사조절에 미치는 영향 (Effect of deletion mutants in the regulatory region of transcriptional regulation of glpD and glpE genes)

  • 정희태;최용악;정수열
    • 생명과학회지
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    • 제5권4호
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    • pp.162-169
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    • 1995
  • The glpD genes encoding gly-3-p dehydrogenase is essential for the aerobic growth of E. coli on glycerol or gly-3-p. The glpE gene, the function of which is unknownm is transcribed divergently with respect to glpD gene. Expression of the adjacent but divergently transcribed glpD the glpE genes is positively regulated by the cAMP-CRP complex. In this study, for a precise investigation of the functional elements in the regulatory region for transcription activation by cAMP-CRP, deletion mutation have been introducted into the regulatory region. The effect of the deletion mutant on transcriptional regulation was tested in vivo by $\beta$-galctosidase activity. Deletion mutants in the regulatory region of glpD demonstrated that the presence of the CRP-binding site resulted in an sixfold increase in promoter activity. And also deletion mutants of glpE gene demonstrated that the presence of the CRP-binding site resulted in an eightfold increase in promoter activity. Insertion of 22 bp oligomer in the deletion mutants has shown that the CRP binding site is need for maximal expression of glpD and glpE genes. glpD and glpE gene, cAMP-CRP complex, deletion mutant, transcriptional regulation.

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Analysis of the functional domains of CFTase gene cloned from Xanthomonas oryzae #5 using recombinant deletion mutant

  • 김병우;유동주;류혜경;박주희
    • 한국생물공학회:학술대회논문집
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    • 한국생물공학회 2001년도 추계학술발표대회
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    • pp.727-730
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    • 2001
  • Xanthomonas oryzae #5로부터 클로닝 된 CFTase 의 functional domain의 분석을 위해 CFTase의 recombinant deletion mutant를 구성하고, recombinant protein을 분리, 정제하였다. 분리, 정제한 recombinant protein의 활성을 측정한 결과 C-terminal이 deletion 된 mutant는 cyclization 반응이 소실 되었다. 이와 같은 결과로부터 CFTase의 C-terminal 은 cyclization 반응의 중요한 functional domain 이다.

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뇌량의 부분 발육부전을 동반한 4q Deletion 1례 (A Case of 4q Deletion with Partial Agenesis of Corpus Callosum)

  • 강미나;임인숙;김병의;최명재;김상우
    • Clinical and Experimental Pediatrics
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    • 제45권2호
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    • pp.273-277
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    • 2002
  • 저자들은 짧은 사지를 가지고 태어난 생후 2일된 여자 신생아에서 뇌량의 부분 발육부전과 특징적인 임상소견을 보이면서 염색체 검사상 4번 염색체 장완 간질부결손으로 확진된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Patterns of consonant deletion in the word-internal onset position: Evidence from spontaneous Seoul Korean speech

  • Kim, Jungsun;Yun, Weonhee;Kang, Ducksoo
    • 말소리와 음성과학
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    • 제8권1호
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    • pp.45-51
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    • 2016
  • This study examined the deletion of onset consonant in the word-internal structure in spontaneous Seoul Korean speech. It used the dataset of speakers in their 20s extracted from the Korean Corpus of Spontaneous Speech (Yun et al., 2015). The proportion of deletion of word-internal onset consonants was analyzed using the linear mixed-effects regression model. The factors that promoted the deletion of onsets were primarily the types of consonants and their phonetic contexts. The results showed that onset deletion was more likely to occur for a lenis velar stop [k] than the other consonants, and in the phonetic contexts, when the preceding vowel was a low central vowel [a]. Moreover, some speakers tended to more frequently delete onset consonants (e.g., [k] and [n]) than other speakers, which reflected individual differences. This study implies that word-internal onsets undergo a process of gradient reduction within individuals' articulatory strategies.