• Title/Summary/Keyword: Deletion

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A Case of Nonsyndromic Intrahepatic Bile Duct Paucity with Congenital Bilateral Vocal Cord Paralysis and 13q Deletion (선천성 양측 성대마비와 13번 염색체 장완 결실이 동반된 비증후군성 간내담도부족증 1례)

  • Chung, Ju-Young;Lee, Jeong-Soo;Kim, Byung-Eoi;Choi, Myung-Jai;Park, Dong-Chul;Kim, Sang-Woo;Kang, Kyung-Hoon
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.4 no.1
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    • pp.108-112
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    • 2001
  • Nonsyndromic intrahepatic bile duct paucity is known to be associated with several kinds of etiology such as infection, chromosomal anomaly, metabolic disease and idiopathic. We report a rare case of intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion.

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Deletion Mutageneses of the Helicobacter pylori Urease Accessory Genes

  • Lee, Mann-Hyong;Sung, Jae-Young
    • Journal of Life Science
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    • v.9 no.1
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    • pp.5-8
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    • 1999
  • Helicobacter pylori is the etiologic agent of human gastritis and peptic ulceration and produces urease as the major protein component on its surface. H. pylori urease is known to serve as a major virulence factor and a potent immunogen. Deletion mutageneses were performed in the H. pylori urease accessory genes by using combinations of restriction enzymes and other DNA modifying enzymes in order to assess the function of these accessory gene products in the expression of the active urease. Selective disruptions in the accessory gene regions resulted in complete abolishment of the urease activity, which is consistent with other bacterial ureases. Interestingly, deletions in ureE-containing regions caused reduced expression of the structural enzyme subunits.

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Effects of R100 Mutant MerR on Regulation of mer Operon from Shigella flexneri

  • Yoon, Kyung-Pyo
    • Journal of Microbiology and Biotechnology
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    • v.4 no.4
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    • pp.245-249
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    • 1994
  • An amino-terminal 14 amino acids deletion and three site-directed mutations were created to investigate the mechanism of induction and repression of MerR regulatory protein in R100 mer operon from gramnegative Shigella flexneri. The amino-terminal 14 amino acids deletion, Cysl17Ser, and Cys126Ser mutations abolished the inducibility of the mer operon and the Hisl18Ala mutation resulted in the reduction of inducibility (about 9.1 % remaining) in complementation experiment in the presence of $Hg^{2+}$ at subtoxic level ($1\mu M$). The complementation experiment with $Hg^{2+}$ absent showed that Hisl18Ala, Cys126Ser, and wild-type MerR could repress the operon but Cysl17Ser could not, and the amino-terminal deletion mutant could neither induce nor repress the R100 mer operon.

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Metrical Foot in Korean Phonology (한국어 음운론의 음보)

  • Lee Sang-Jik
    • MALSORI
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    • no.25_26
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    • pp.38-51
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    • 1993
  • Korean phonology has not recognised metrical foot as a phonological unit to account for certain phonological processes. This paper, however, suggests that an optional h-deletion process in Korean should require the notion of metrical foot as an independent phonological domain. The previous analyses rely on the notion of speech speed to explain optional h-deletion : i. e. an intervocalic h is deleted in fast speech, but in slow speech it remains. This paper claims that the notion of speech speed should be reinterpreted in terms of metrical foot : i.e. foot-internal t is deleted, but foot-initial h remains. Such analysis provides evidence that metrical foot constitutes a phonological unit in Korean phonology. With the notion of metrical foot, it enables us to achieve more detailed and accurate analysis of the optional h-deletion process in Korean.

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LAMMER Kinase Lkh1 Is an Upstream Regulator of Prk1-Mediated Non-Sexual Flocculation in Fission Yeast

  • Park, Yoon-Dong;Kwon, Soo Jeong;Bae, Kyung Sook;Park, Hee-Moon
    • Mycobiology
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    • v.46 no.3
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    • pp.236-241
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    • 2018
  • The cation-dependent galactose-specific flocculation activity of the Schizosaccharomyces pombe null mutant of $lkh1^+$, the gene encoding LAMMER kinase homolog, has previously been reported by our group. Here, we show that disruption of $prk1^+$, another flocculation associated regulatory kinase encoding gene, also resulted in cation-dependent galactosespecific flocculation. Deletion of prk1 increased the flocculation phenotype of the $lkh1^+$ null mutant and its overexpression reversed the flocculation of cells caused by lkh1 deletion. Transcript levels of $prk1^+$ were also decreased by $lkh1^+$ deletion. Cumulatively, these results indicate that Lkh1 is one of the negative regulators acting upstream of Prk1, regulating non-sexual flocculation in fission yeast.

A study on the realization of /h/ between sonorant sounds (공명음 사이의 /ㅎ/의 실현에 대한 음성, 음운론적 고찰)

  • Cha Jaeeun;Jung Myungsook;Shin Jiyoung
    • Proceedings of the KSPS conference
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    • 2003.05a
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    • pp.48-51
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    • 2003
  • The purpose of this paper is to research the realization of /h/ between sonorant sounds. For this purpose, we analyze speech of 5 people using standard Korean. As a result, we can find that the possibility of deletion of /h/ is increasing, when speech rate is high, the AP has more syllables, and /h/ is far from the AP-initial. While the position of AP or IP has no relation to realization of /h/. The deletion of /h/ is more often in this order. Followed segments: lateral>nasal>vowel, following segments: vowel>glide. And there is no change on duration of following vowel after /h/ deletion.

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The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome (한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석)

  • Park, Sang-Jin;Kim, Sook-Ryung;Baek, Kum-Nyeo;Yoon, Joon-No;Jeong, Eun-Jeong;Kown, Ji-Eun;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.133-141
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    • 2007
  • Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

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Cold-Sensitive Growth of Bacillus subtilis Mutants Deleted for Putative DEAD-Box RNA Helicase Genes (Bacillus subtilis DEAD-Box RNA Helicase 유전자 결손 균주들의 저온 민감성 생장)

  • Oh, Eun-Ha;Lee, Sang-Soo
    • Korean Journal of Microbiology
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    • v.46 no.3
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    • pp.233-239
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    • 2010
  • Four genes (yqfR, yfmL, ydbR, deaD) were identified as putative DEAD-box RNA helicase genes in the genomic sequence of Bacillus subtilis by homology search. To understand the function of these genes, each of the genes was deleted and the constructed strains were tested for their growth charateristics at different temperatures. The growth rate of ydbR deletion mutant ($T_d$=53 min) was a little bit reduced at $37^{\circ}C$ as compared to that of wild type strain (CU1065). But the growth rate of other three (yqfR, yfmL, deaD) deletion mutants ($T_d$=30-40 min) is nearly equal to the growth rate of wild type ($T_d$=32 min). On the other hands, the growth rate of deletion mutants were reduced at $22^{\circ}C$ in order of yqfR ($T_d$=151 min), yfmL ($T_d$=214 min), ydbR ($T_d$=343 min), which showed cold-sensitive phenotype. The deletion mutant of deaD ($T_d$=109 min) grew equally as compared to the growth rate ($T_d$=102 min) of the wild type at $22^{\circ}C$ and did not show cold-sensitive growth. Double, triple and quadruple deletion mutants of these genes were constructed, and growth rate of these mutants were measured at various temperature conditions ($22^{\circ}C$, $37^{\circ}C$, $42^{\circ}C$) using LB broth. Multiple deletion mutations showed more severe cold-sensitive growth than single deletion mutations, and double deletion of ydbR and yfmL ($T_d$=984 min) showed most cold-sensitive growth than any other double mutants. Such a cold-sensitive growth of these mutations is quite similar to the result of csdA or srmB deletion in E. coli and suggested that physiological role of ydbR and yfmL is related with ribosome assembly.

Evaluation of trace mineral source and preharvest deletion of trace minerals from finishing diets on tissue mineral status in pigs

  • Ma, Y.L.;Lindemann, M.D.;Webb, S.F.;Rentfrow, G.
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.2
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    • pp.252-262
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    • 2018
  • Objective: An experiment was conducted to evaluate dietary supplemental trace mineral source and deletion on mineral content in tissues. Methods: Weanling crossbred pigs (n = 144; 72 barrows and 72 gilts; body weight [BW] = $7.4{\pm}1.05kg$) were used. A basal diet was prepared, and trace mineral premix containing either inorganic (ITM) or organic (OTM) trace minerals (Cu, Fe, Mn, and Zn) was added to the basal diet. Pigs were blocked by sex and BW and randomly allotted to 24 pens for a total of 6 pigs per pen, and fed a diet containing either ITM or OTM supplemented at the 1998 NRC requirement estimates for each of 5 BW phases (Phase I to V) from 7 to 120 kg. The trace mineral supplementation was deleted for 6, 4, 2, and 0 wk of Phase V; regarding nutrient adequacy during this phase, the indigenous dietary Fe and Mn was sufficient, Cu was marginal and Zn was deficient. Results: At the end of Phase IV, Mn content (mg/kg on the dry matter basis) was greater (p<0.05) in heart (0.77 vs 0.68), kidney (6.32 vs 5.87), liver (9.46 vs 8.30), and longissimus dorsi (LD; 0.30 vs 0.23) of pigs fed OTM. The pigs fed OTM were greater (p<0.05) in LD Cu (2.12 vs 1.89) and Fe (21.75 vs 19.40) and metacarpal bone Zn (141.86 vs 130.05). At the end of Phase V, increased length of deletion period (from 0 to 6 wk) resulted in a decrease (linear, p<0.01) in liver Zn (196.5 to 121.8), metacarpal bone Zn (146.6 to 86.2) and an increase (linear, p<0.01) in heart Mn (0.70 to 1.08), liver Mn (7.74 to 12.96), and kidney Mn (5.58 to 7.56). The only mineral source by deletion period interaction (p<0.05) was observed in LD Zn. Conclusion: The results demonstrated differential effects of mineral deletion on tissue mineral content depending on both mineral assessed and source of the mineral.