• Title/Summary/Keyword: Translocation 11

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Anatomical Repair of Double-Outlet Left Ventricle with Ventricular Septal Defect and Pulmonary Stenosis by Reight Ventricular Outflow Patch Reconstruction (폐동맥 협착증을 동반한 양대혈관 좌심실 기시증에서, 우심실 유출로 첩포 재건술을 이용한 해부학적 완전 교정술)

  • 한재진;장지원;원태희;김혜순;손세정
    • Journal of Chest Surgery
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    • v.33 no.4
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    • pp.316-319
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    • 2000
  • Double-outlet left ventricle with ventricular septal defect and pulmonary stenosis was conventionally repaired with extracardiac conduit or pulmonary artery translocation. Here, we report an anatomically repaired double-outlet left ventricle without extracardiac conduit or pulmonary artery translocation in an 11 month old patient who had undergone palliative systemic-pulmonary shunt at a nonatal period. The location of ventricular septal defect, both great arteries and coronary arteries made it possible to reconstruct the right ventricular outflow tract using on-lay patch after incision and undercutting the tissue between the ventriculotomy and the pulmonary arteriotomy.

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The linker connecting the tandem ubiquitin binding domains of RAP80 is critical for lysine 63-linked polyubiquitin-dependent binding activity

  • Cho, Hyun-Jung;Lee, Sang-Ho;Kim, Hong-Tae
    • BMB Reports
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    • v.42 no.11
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    • pp.764-768
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    • 2009
  • The tandem ubiquitin-interacting motif (UIM) domain located at the N-terminus of Receptor Associated Protein 80 (RAP80) plays a crucial role in ionizing radiation (IR)-induced DNA damage response. RAP80 translocates to sites of IR-induced DNA damage through interaction of its UIM domain with ubiquitinated H2A and Lys63-linked polyubiquitin chains. The exact mechanism, however, through which RAP80 associates with Lys63-linked polyubiquitin chains is not clear. Here, we show by in vitro GST-pull down assays that modifying the linker region between the tandem ubiquitin binding domains of RAP80 changes the binding affinity for Lys63-linked polyubiquitin chains and affects translocation to sites of DNA breaks. Based on these findings, we suggest that the length of the linker region between the tandem ubiquitin binding domains of RAP80 may be a key factor in the binding of RAP80 with Lys63-linked polyubiquitin chains as well as in the translocation of RAP80 to DNA break sites.

Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

  • Park, Sang Hee;Shim, Sung Han;Jung, Yong Wook;Kim, Da Hee;Kang, Su Jin;Park, Sun Ok;Cha, Dong Hyun
    • Journal of Genetic Medicine
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    • v.11 no.1
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    • pp.16-21
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    • 2014
  • A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

  • Lee, Dongsook;Park, Heeju;Kwak, Sanha;Lee, Soomin;Go, Sanghee;Park, Sohyun;Jo, Sukyung;Kim, Kichul;Lee, Seunggwan;Hwang, Doyeong
    • Journal of Genetic Medicine
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    • v.13 no.2
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    • pp.95-98
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    • 2016
  • We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

Uptake and Translocation of Ethoprophos Mixed with Soil for Cultivation of Preceding Crop into Succeeding Crop (전작물 재배를 위해 토양에 혼화처리된 Ethoprophos의 후작물 흡수이행)

  • Kwak, Se-Yeon;Lee, Sang-Hyeob;Kim, Hyo-Young;Shin, Byung-Gon;Kim, Jang-Eok
    • Korean Journal of Environmental Agriculture
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    • v.40 no.2
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    • pp.92-98
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    • 2021
  • BACKGROUND: Unintentional residual pesticide in soil derived from preceding crops and the transfer to succeeding crops was considered a critical barrier for positive list system (PLS). Thus, an uncertain risk is predicted for ethoprophos applied at cultivation of preceding crop (Korean cabbage) to succeeding crop (spinach). METHODS AND RESULTS: Ethoprophos was treated on soil following the recommended dose and 5 times dose according to the safe use guidelines for Korean cabbage after seeding. On the 4 days after harvesting of preceding crop, spinach was sowed. The initial residual amounts of ethoprophos on soil (7.081-19.493 mg/kg) were decreased to 3.832-7.218 mg/kg until the harvest of Korean cabbage, and then finally decreased to 0.011-0.079 mg/kg after spinach cultivation. The uptake rates of ethoprophos from soil by Korean cabbage were 0.01-0.03% and distributed to root (0.150-0.903 mg/kg) and shoot (0.021-0.151 mg/kg), respectively. The residual amounts of uptake and translocation from preceding crop cultivated soil to spinach edible part were found to be below LOQ. CONCLUSION: The plant back internal (PBI) for ethoprophos is not recommended during sequential cultivation of leafy vegetables, since the residual amounts of ethoprophos in spinach were less than MRL (0.02 mg/kg).

Pulmonary Trunk Translocation from LV to RV in Double-Outlet Left Ventricle -A case report- (양대혈관 좌심실기시에서 좌심실에서 우심실로의 폐동맥간 전위술의 치험 -1례 보고-)

  • 김상익;최진호;전태국;박표원
    • Journal of Chest Surgery
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    • v.34 no.11
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    • pp.854-857
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    • 2001
  • Double-outlet left ventricle(DOLV) is a rare congenital cardiac malformation, defined as the origin of both the aorta and the pulmonary artery being entirely or predominantly above the morphologically left ventricle, which is difficult to diagnose accurately. A 3-year old male was admitted for cyanosis and dyspnea. At the age of 2 months, he had undergone pulmonary artery banding and coarctoplasty. He was diagnosed as DOLV with subaortic ventricular septal defect(VSD). Biventricular repair was achieved by patch closure of VSD, primary closure of PFO, and pulmonary trunk translocation from left ventricle to right ventricle. The advantages of this procedure using native tissue for right ventricular outflow tract reconstruction are growth potential and preserved valve function, which contribute to a decreased likelihood of reoperation related to the right ventricular dysfunction related to pulmonary insufficiency.

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A Cytogenetic Study of 92 Korean Patients with Down's Syndrome (Down's Syndrome(몽고증)의 세포유전학적 연구)

  • Kim, Chung-Hoon;Oh, Sun-Kyung;Kim, Jung-Koo;Moon, Shin-Yong;Lee, Jin-Yong;Chang, Yoon-Seok
    • Clinical and Experimental Reproductive Medicine
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    • v.13 no.2
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    • pp.145-151
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    • 1986
  • The purpose of this study is to investigate the cytogenetic characteristics of Down's syndrome in Korea. For this study, selected were 92 patients who were diagnosed as Down's syndrome by the chromosomal analyses, among 115 patients who were supected of Down's syndrome and referred to the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University, for 2 years from January 1984 to December 1985. Among 92 patients with Down's syndrome 83 (90.2%) had G-trisomy, 4 (4.3%) had translocation, and 2 (2.2%) had mosaicism of normal and G-trisomic cell lines. Two patients of the remaining 3 had both G-trisomic and translocation, 47, XX, t (1:21) (p32:q22), +21, 47, XX, t (9:11) (q34:q14), +21. The remaining 1 patient had 47, XY, +mar.

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Arterial Switch Operation of Transposition of Great Arteries [1 case] (대혈관전위증에 대한 동맥전환술 1례 치험)

  • 김창호
    • Journal of Chest Surgery
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    • v.19 no.1
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    • pp.153-159
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    • 1986
  • A 11 month old child with transposition of the great arteries and a large ventricular septal defect [VSD] underwent repair by VSD closure and arterial switching with translocation of the coronary ostia. Cardiopulmonary bypass was established along with core cooling to between 18 degree C and low flow was employed. By LeCompte maneuver, we avoided the use of a tubular prosthesis in the repair of pulmonary outflow tract. The post-operative course was uneventful.

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Absorption, Translocation and Metabolism of Naproanilide in Rice and Paddy Weeds under Different Temperature Conditions (수도(水稻)와 잡초(雜草)에서 온도조건(溫度條件)에 따른 Naproanilide의 흡수(吸收), 이행(移行) 및 대사(代謝)에 관(關)한 연구(硏究))

  • Park, C.W.;Pyon, J.Y.;Kim, Y.W.
    • Korean Journal of Weed Science
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    • v.11 no.3
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    • pp.187-194
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    • 1991
  • Absorption and translocation, and metabolism studies using $^{14}C$-naproanilide were conducted to determine selective mode of action of naproanilide in rice and paddy weeds under different temperature conditions. Absorption amount of $^{14}C$-naproanilide was greater in Cyperus serotinus and Sagittaria pygmaea than rice and Echinochloa crusgalli. Especially, absorption of $^{14}C$-naproanilide in C. serotinus was increased twice at 32 $^{\circ}C$ and 48 hour exposure conditions. $^{14}C$-naproanilide in roots was translocated to shoots very little in rice and E. crusgalli, but S. pygmaea somewhat greater translocation than the other species. In C. serotinus and S. pygmaea, susceptible weeds, metabolic rates of naproanilide into phytotoxic NOP (2-(2-naphthoxy)-propionic acid) and NOPM (methyl 2-(2-naphthoxy) propionate) were significantly greater than in rice and E. crugalli, tolerant species. Consequently, differential uptake by roots and the difference in activation metabolism of naproanilide among species may explain the possible mechanism of selectivity.

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Cytogenetic Analysis of Reciprocal Hybrids Reveals a Robertsonian Translocation between Mud Loach ($Misgurnus$ $mizolepis$) and Cyprinid Loach ($M.$ $anguillicaudatus$) (미꾸라지($Misgurnus$ $mizolepis$)와 미꾸리($M.$ $anguillicaudatus$) 및 유도된 종간 잡종의 세포유전학적 연구)

  • Lee, Seung-Ki;Kim, Dong-Soo
    • Korean Journal of Ichthyology
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    • v.24 no.1
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    • pp.1-10
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    • 2012
  • Reciprocal hybrids between the mud loach ($Misgurnus$ $mizolepis$) and cyprinid loach ($M.$ $anguillicaudatus$) were produced by artificial fertilization. The chromosome number of mud loach was 2n=48, consisting of 12M+4SM+32A chromosomes. The cyprinid loach has 2n=50, consisting of 10M+4SM+36A chromosomes. The chromosome numbers of the diploid reciprocal hybrids were 2n=49, consisting of 11M+4SM+34A chromosomes. All the karyotypes documented in this study had the same arm number of 64. There was no evidence of chromosomal polymorphisms or sex-related heteromorphism. The cytogenetic traits of the hybrid genotypes were intermediate between those of the parent species. In all genotypes, the chromosomal NORs localized to the terminal short arms of the same metacentric chromosome pair. These results suggest that Robertsonian translocation occurred between metacentric chromosome 1 of mud loach and acrocentric chromosome of cyprinid loach.