• 제목/요약/키워드: 46

검색결과 36,722건 처리시간 0.049초

터너증후군의 핵형과 표현형간의 연관성 (Correlation between Karyotype and Phenotype in Turner Syndrome)

  • 심예지;황영주;이건수
    • Journal of Genetic Medicine
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    • 제6권1호
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    • pp.67-73
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    • 2009
  • 목 적 : 터너증후군 환자들에게는 다양한 핵형과 표현형이 나타나지만 우리나라에서는 그 연관성에 대한 연구가 미미한 실정이다. 그리하여 본 연구에서는 터너증후군으로 진단받은 환자들의 염색체 이상, 임상양상, 동반 질환에 대해 조사하였다. 대상 및 방 법 : 경북대학교병원에서 터너증후군으로 진단받은 환자 92명을 대상으로 염색체 핵형을 분류하였으며, 그 중 62명을 대상으로 임상 양상 및 동반 질환을 조사하였다. 결 과 : 핵형이 45,X인 환자는 54.3%였고. 섞임증 및 구조 이상이 나머지를 차지하였다. 섞임증의 경우 45,X에 비하여 Turner stigmata의 빈도가 낮았다. 46,X,del(Xp) 및 45,X/46,X,del(Xq)에서는 모두 골격 이상이 나타난 반면, 46,X, del(Xq)에서는 나타나지 않았다. 46,X,del(Xp)에서는 성적 유치증이 나타나지 않았지만, 46,X,del(Xq) 및 45,X/46,X,del(Xq)의 경우에는 이차 성징 지연이 지연 및 무월경이 나타났다. 46,X,i(Xq) 및 45,X/46,X,i(Xq)의 경우 이차 성징이 발현되지 않았고 모두 일차 무월경을 보였다. 그 외에 장완의 isochromosome이 있는 경우 청력 장애 및 갑상선 질환이 더 빈번하게 나타났다. 결 론 : 터너증후군 환자들의 핵형과 표현형 사이의 연관성을 조사하는 작업은 성염색체에 위치하는 유전자자리를 예측하는 정보를 얻을 수 있다는 점에서 중요하다고 생각한다.

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원발성 무월경환자의 세포유전학적 연구 (Cytogenetic Studies in Primary Amenorrhea)

  • 문신용;차상헌;이진용;장윤석
    • Clinical and Experimental Reproductive Medicine
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    • 제12권2호
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    • pp.59-64
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    • 1985
  • This investigation represents a cytogenetic study of 382 women with primary amenorrhea. 235 cases (61.5%) showed normal karyotype, 46, XX and l47 cases (38.5%) showed chromosomal abnormalities. Of 144 females with cytogenetic abnormalities, 44 cases (30.0%) showed a 45, X constitution: 37 cases (25.2%) with 45, X/46, XX: 3 (2.0%) 45, X/47, XXX: 11 (7.5%) 45, X/46, XX/47, XXX: 1 (0.7%) 45, X/46, XY: 3 (2.0%) 46, $XX_{p-}$: 2 (1.4%) 46, $XX_{q-}$: 6 (4.1%) 46, X, i ($X_q$): 1 (0.7%) 45, X/46, $XX_{q+}$: 1 (0.7%) 45, X/46, XX, inv(X): 1 (0.7%) 45, X, inv (9)/47, XXX, inv(9). 36 women (24.5%) had a 46, XY constitution and 1 case (0.7%) had a 47, XXX constitution.

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Bisphenol A and 4-tert-Octylphenol Inhibit Cx46 Hemichannel Currents

  • Oh, Seunghoon
    • The Korean Journal of Physiology and Pharmacology
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    • 제19권1호
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    • pp.73-79
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    • 2015
  • Connexins (Cx) are membrane proteins and monomers for forming gap junction (GJ) channels. Cx46 and Cx50 are also known to function as conductive hemichannels. As part of an ongoing effort to find GJ-specific blocker(s), endocrine disruptors were used to examine their effect on Cx46 hemichannels expressed in Xenopus oocytes. Voltage-dependent gating of Cx46 hemichannels was characterized by slowly activating outward currents and relatively fast inward tail currents. Bisphenol A (BPA, 10 nM) reduced outward currents of Cx46 hemichannels up to ~18% of control, and its effect was reversible (n=5). 4-tert-Octylphenol (OP, $1{\mu}M$) reversibly reduced outward hemichannel currents up to ~28% (n=4). However, overall shapes of Cx46 hemichannel current traces (outward and inward currents) were not changed by these drugs. These results suggest that BPA and OP are likely to occupy the pore of Cx46 hemichannels and thus obstruct the ionic fluxes. This finding provides that BPA and OP are potential candidates for GJ channel blockers.

FAM46B inhibits cell proliferation and cell cycle progression in prostate cancer through ubiquitination of β-catenin

  • Liang, Tao;Ye, Xuxiao;Liu, Yuanyuan;Qiu, Xinkai;Li, Zuowei;Tian, Binqiang;Yan, Dongliang
    • Experimental and Molecular Medicine
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    • 제50권12호
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    • pp.8.1-8.12
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    • 2018
  • FAM46B is a member of the family with sequence similarity 46. Little is known about the expression and functional role (s) of FAM46B in prostate cancer (PC). In this study, the expression of FAM46B expression in The Cancer Genome Atlas, GSE55945, and an independent hospital database was measured by bioinformatics and real-time PCR analysis. After PC cells were transfected with siRNA or a recombinant vector in the absence or presence of a ${\beta}$-catenin signaling inhibitor (XAV-939), the expression levels of FAM46B, C-myc, Cyclin D1, and ${\beta}$-catenin were measured by western blot and realtime PCR. Cell cycle progression and cell proliferation were measured by flow cytometry and the CCK-8 assay. The effects of FAM46B on tumor growth and protein expression in nude mice with PC tumor xenografts were also measured. Our results showed that FAM46B was downregulated but that ${\beta}$-catenin was upregulated in patients with PC. FAM46B silencing promoted cell proliferation and cell cycle progression in PC, which were abrogated by XAV-939. Moreover, FAM46B overexpression inhibited PC cell cycle progression and cell proliferation in vitro and tumor growth in vivo. FAM46B silencing promoted ${\beta}$-catenin protein expression through the inhibition of ${\beta}$-catenin ubiquitination. Our data clearly show that FAM46B inhibits cell proliferation and cell cycle progression in PC through ubiquitination of ${\beta}$-catenin.

$n-CdS_{0.46}Se_{0.54}/p-Cu_{2-X}S_{0.46}Se_{0.54}$ 이종접합 태양전지의 제작과 그 특성에 관한 연구 (The Study of the Fabrication and Characteristics of $n-CdS_{0.46}Se_{0.54}/p-Cu_{2-X}S_{0.46}Se_{0.54}$ heterojunction Solar Cells)

  • 유상하;최승평;이상열;홍광준;서상석;김혜숙;전승룡;윤은희;문종대;신영진;정태수;신현길;김택성;유기수
    • 태양에너지
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    • 제13권1호
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    • pp.49-58
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    • 1993
  • 승화방법에 의해 $CdS_{0.46}Se_{0.54}$ 단결정을 성장하여 결정구조를 조사하고, Van der Pauw 방법으로 Hall effect를 측정하여 carrier density의 온도 의존성과 mobility의 온도 의존성을 조사하였다. 성장된 $CdS_{0.46}Se_{0.54}$ 단결정을 치환반응하여 $n-CdS_{0.46}Se_{0.54}/p-Cu_{2-X}S_{0.46}Se_{0.54}$ 이종접합 태양전지를 제작하였다. Spectral response, 전류-전압특성 및 전력변환 효율을 조사하여 그 결과로부터 개방전압은 0.48V, 단락 전류 밀도는 $21mA/cm^2$, fill factor와 전력변환효율은 각각 0.75와 9.5%를 얻었다.

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드라이버 샤프트 길이와 신체적 조건이 헤드스피드, 비거리 및 방향성에 미치는 영향 (Influence of Shaft Length and Physical Condition on Golf Driving Performance according to Physical Condition)

  • 정철;김지선
    • 한국응용과학기술학회지
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    • 제36권1호
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    • pp.217-225
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    • 2019
  • 본 연구의 목적은 드라이버 샤프트 길이와 신체적 조건이 헤드스피드와 비거리 및 방향성에 미치는 영향에 대하여 분석하였다. 연구에 참여한 대상은 핸디캡인 0인 남자 프로골퍼 27명을 대상으로 신체적인 조건은 키($170cm{\geq}170-175cm{\geq}175-180cm$)로 하였고, 연구에 사용한 드라이버 길이는 44 인치, 45 인치, 46 인치로 하였다. 골프 수행력은 헤드스피드와 비거리 및 방향성을 종속변인으로 설정하여 분석하였다. 연구 결과 일반적인 헤드스피드는 44, 45인치와 46인치 간에는 유의한 차이가 나타났다(p<.01). 비거리에서는 44인치와 46인치 간에 유의한 차이가 나타났다(p<.05). 방향성에서는 44, 45인치와 46인치 간에는 유의한 차이가 나타났다(p<.05). 키에 따른 헤드스피드는 170, 171-175cm에서는 클럽 간에 대동소이하였고, 176-180cm 44인치와 46인치 간에 유의한 차이가 나타났다(p<.01). 키에 따른 비거리는 170cm에서는 클럽길이 간 대동소이하였고, 171-175cm에서는 44인치와 46인치 간에 유의한 차이가 나타났으며(p<.01). 176-180cm 45인치와 46인치 간에 유의한 차이가 나타났다(p<.05). 키에 따른 방향성에서는 170cm에서 44인치와 45인치 간에 유의한 차이가 나타났고(p<.05), 45, 46인치에서는 키와 상관없이 클럽 간 유의한 차이가 없는 것으로 나타났다. 결론적으로 드라이버 샤프트 길이 및 키에 따른 골프 수행력에 영향을 미치는 것으로 나타났다.

Isolation and Characterization of the Ribosomal Protein 46 Gene in Drosophila melanogaster

    • Animal cells and systems
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    • 제2권1호
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    • pp.113-116
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    • 1998
  • A cDNA clone coding for ribosomal protein 46 (rp46) which is a component of 60S ribosomal large subunit has been identified from Drosophila melanogaster. A cDNA clone encoding S. cerevisiae rp46 was used as a probe to screen a Drosophila larvae cDNA library. The DNA sequence analysis revealed that the cDNA coding for Drosophils rp46 contains a complete reading frame of 153 nucleotides coding for 51 amino acids. The deduced amino acid sequence showed 71-75% homology with those of other eukaryotic organisms. Northern blot analysis showed that about 1-kb rp46 transcripts are abundant throughout fly development. Whole mount embryonic mRNA in situ hybridization also showed no preferential distribution of the transcripts to any specific region. The chromosomal in situ hybridization revealed that the identified gene is localized at position 60C on the right arm of the second polytene chromosome with a possibility of single copy.

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Rapid Expression of Bm46 in Bombyx mori Cell Lines, Larvae and Pupae

  • Wang, Haiyan;Chen, Keping;Guo, Zhongjian;Yao, Qin;Wang, Qiang;Mu, Runhong
    • International Journal of Industrial Entomology and Biomaterials
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    • 제15권1호
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    • pp.35-38
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    • 2007
  • In this study, ORF 46 of Bombyx mod nucleopolyhedrovirus(Bm46) fused with EGFP was expressed in Bombyx mod cell lines, larvae and pupae by BmNPV Bacmid system. Bm46 and EGFP were cloned into donor plasmid pFastBacHTb, which was transformed to competent DH10B cells containing helper and BmNPV bacmid by site-specific transposition. Recombinant bacmid was used to transfected BmN-4 cells to produce the recombinant baculovirus vBm-Bm46-EGFP. Recombination virus was injected into silkworm larvae and pupae. The expression of the fusion protein was monitored by examining green fluorescence using a fluorescent microscope. Intense fluorescence in cells and silkworm was observed at 4 days post-infection, indicating the Bm46-EGFP fusion gene was expressed successfully.

46XX에서 원발성 무월경과 성선 결여를 동반한 뮬러관 이상 1예 (A Case of 46XX, Primary Amenorrhea, Absent Gonads and Lack of Mullerian Ducts)

  • 이봉주
    • Clinical and Experimental Reproductive Medicine
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    • 제28권2호
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    • pp.169-171
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    • 2001
  • Objective: To study the etiology of primary amenorrhea in 19-aged woman. Materials and Methods: Case report. Results: I found that there were not gonads and organ of mullerian ducts origin on diagnostic laparoscopy. She was normal 46XX on chromosomal study and normal external genitalia except short vaginal canal. Conclusion: It is very rare that absent gonads and lack of mullerian ducts with 46XX female and primary amenorrhea.

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Bacterial Carotenoids를 생산하는 광합성세균 Erythrobacter longus SY-46의 분리 및 특성 (Isolation and Characteristics of Photosynthetic Bacterium, Erythrobacter longus SY-46 which Produces Bacterial Carotenoids)

  • 김윤숙;이대성;정성윤;이원재
    • 한국환경과학회지
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    • 제17권4호
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    • pp.469-477
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    • 2008
  • The aerobic photosynthetic bacterium, which produces bacterial carotenoids was isolated and identified from coastal marine environments. This bacterium was identified by 16S rDNA sequencing and designated as Erythrobacter longus SY-46. E. longus SY-46 was Gram negative and rod shape, and the optimal culture conditions were $25^{\circ}C$, pH 7.0, and 3.0% NaCl concentration, respectively. The carbon and nitrogen sources required for the optimal growth were lactose and tryptone, respectively. Fatty acid compositions of E. longus SY-46 were $C_{18:1}$(78.32%), v-linolenic acid($C_{18:3n9.12.15c}:3.83%$), margaric acid($C_{17:0}$: 3.38%), palmitic acid($C_{16:0}$: 3.07%), and docosahexaenoic acid($C_{22:6n3}$: 2.21%). In addition, E. longus SY-46 showed the characteristic absorption peaks of bacterial carotenoids(in the region of 450 to 480 nm) and bacteriochlorophyll(770 to 772 nm). Major carotenoids of E. longus SY-46 were polyhydroxylated xanthophylls such as fucoxanthin and zeaxanthin.