RISS 학술연구정보서비스

검색
다국어 입력

http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.

변환된 중국어를 복사하여 사용하시면 됩니다.

예시)
  • 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
  • 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
닫기
    인기검색어 순위 펼치기

    RISS 인기검색어

      검색결과 좁혀 보기

      선택해제
      • 좁혀본 항목 보기순서

        • 원문유무
        • 원문제공처
          펼치기
        • 등재정보
        • 학술지명
          펼치기
        • 주제분류
          펼치기
        • 발행연도
          펼치기
        • 작성언어
        • 저자
          펼치기

      오늘 본 자료

      • 오늘 본 자료가 없습니다.
      더보기
      • 무료
      • 기관 내 무료
      • 유료
      • KCI등재
      • KCI등재
      • KCI등재후보

        Protein Tyrosine Phosphatase N1 Gene Variants Associated with Type 2 Diabetes Mellitus and Its Related Phenotypes in the Korean Population

        홍경원,진현석,임지은,류하정,안윤진,이종영,한복기,신형두,조남한,신철,우정택,박헌국,오범석 한국유전체학회 2008 Genomics & informatics Vol.6 No.3

        Protein phosphorylation at tyrosine residues is a key regulatory event that modulates insulin signal transduction. We studied the PTPN1 gene with regard to susceptibility to Korean type 2 diabetes mellitus (T2DM) and its related quantitative traits. A total of seven SNPs [g.36171G>A (rs941798), g.58166G>A (rs3787343), g.58208A>G (rs2909270), g.64840C>T (rs754118), g.69560C>G (rs6020612), g.69866G>A (rs718050), and g.69934T>G (rs3787343)] were selected based on frequency (>0.05), linkage disequilibrium (LD) status, and haplotype tagging status. We studied the seven SNPs in 483 unrelated patients with type 2 diabetes (age: 64±2.8 years, onset age: 56±8.1 years; 206 men, 277 women) and 1138 nondiabetic control subjects (age: 64±2.9; 516 men, 622 women). The SNP rs941798 had protective effects against T2DM with an odds ratio of 0.726 (C.I. 0.541∼0.975) and p-value=0.034, but none of the remaining six SNPs was associated with T2DM. Also, rs941798 was associated with blood pressure, HDL cholesterol, insulin sensitivity. rs941798 also has been associated with T2DM in previous reports of Caucasian-American and Hispanic-American populations. This is the first report that shows an association between PTPN1 and T2DM in the Korean as well as Asian population.

      • KCI등재

        SOX 유전자의 다양성

        홍경원,김희수 한국생명과학회 2004 생명과학회지 Vol.14 No.4

        Sox protein family, a transcription factor, has been found in whole animal kingdom, and contains a sequence-specific DNA binding domain called high mobility group domain (HMG). The Sox protein family based on the amino acid sequence of HMG domain was classified into 10 groups. Each group of Sox family shows significant conservation from nematode to human. The HMG domain affect to various developmental cell differentiation through binding to enhancer and regulating other transcription factors. Recently, many molecular biologists focus their research on the illustration of Sox-related disease, evolution and phylogeny. Especially, stem cell research with Sox gene family is indispensable field for understanding of their biological functions. The understanding of Sox genes may contribute to understand their role in human genetic disease and whole animal evolution. Sox 패밀리는 동물계 전체에서 찾아지는 전사인자이고, HMG라는 특이적인 DNA결합 도메인을 가진다. 이 Sox 패밀리는 HMG 도메인의 아미노산 서열을 바탕으로 현재 10개의 그룹으로 분류된다. 각 그룹의 오소로그한 Sox 단백질들은 선충에서 인간까지 상당한 보존성을 보인다. HMG 도메인은 전사 촉진 좌위에 결합하고 다른 전사인자들의 결합을 조절함으로써 동물 발생과정의 다양한 세포에서 발현되어 그들의 분화에 결정적인 영향을 미친다. 최근 많은 분자 생물학자들이 Sox 유전자와 관련된 질병, 진화, 그리고 계통 분류 등에 많은 관심을 보이고 있다. 특히, 줄기세포에서 Sox 유전자의 연구는 그들의 생물학적인 기능을 이해하기 위해 꼭 필요한 분야이다. 아마도 이 Sox 유전자들을 이해함으로써, 인간의 유전적 질병과 인간을 포함한 전체 동물계의 진화를 이해할 수 있는 열쇠가 될 것이라 생각한다.

      • KCI등재후보

        Genome-Wide Association Study of Orthostatic Hypotension and Supine-Standing Blood Pressure Changes in Two Korean Populations

        홍경원,김성수,김연정 한국유전체학회 2013 Genomics & informatics Vol.11 No.3

        Orthostatic hypotension (OH) is defined by a 20-mm Hg difference of systolic blood pressure (dtSBP) and/or a 10-mm Hg difference of diastolic blood pressure (dtDBP) between supine and standing, and OH is associated with a failure of the cardiovascular reflex to maintain blood pressure on standing from a supine position. To understand the underlying genetic factors for OH traits (OH, dtSBP, and dtDBP), genome-wide association studies (GWASs) using 333,651 single nucleotide polymorphisms (SNPs) were conducted separately for two population-based cohorts, Ansung (n = 3,173) and Ansan (n =3,255). We identified 8 SNPs (5 SNPs for dtSBP and 3 SNPs for dtDBP) that were repeatedly associated in both the Ansung and Ansan cohorts and had p-values of <1 × 10-5 in the meta-analysis. Unfortunately, the SNPs of the OH case control GWAS did not pass our p-value criteria. Four of 8 SNPs were located in the intergenic region of chromosome 2, and the nearest gene (CTNNA2) was located at 1 Mb of distance. CTNNA2 is a linker between cadherin adhesion receptors and the actin cytoskeleton and is essential for stabilizing dendritic spines in rodent hippocampal neurons. Although there is no report about the function in blood pressure regulation, hippocampal neurons interact primarily with the autonomic nervous system and might be related to OH. The remaining SNPs, rs7098785 of dtSBP trait and rs6892553, rs16887217, and rs4959677 of dtDBP trait were located in the PIK3AP1 intron, ACTBL2-3’ flanking, STAR intron, and intergenic region, respectively, but there was no clear functional link to blood pressure regulation.

      • KCI등재

        Replication of genomewide association studies on age at menarche in the Korean population

        홍경원,김청식,민해숙,박선주,박재경,안영진,김성수,김연정 한국유전학회 2013 Genes & Genomics Vol.35 No.1

        Early menarche is associated with adverse health outcomes, including breast cancer, endometrial cancer,obesity, type 2 diabetes, and cardiovascular disease. Recently, a genomewide association study (GWAS) of age at menarche (AAM) in 104,533 individuals of European ancestry was reported by the ReproGen consortium. They identified 42 loci known and novel loci that were linked to age at menarche. Because age at menarche varies between ethnic groups, we decided to investigate if these results would be replicated in the Korean population. To this end, we examined the association of the SNPs reported in the ReproGen GWAS with AAM in 3,194 individuals from the Korean Genome and Epidemiology Study (KoGES) cohort. Genotype data for total 17 SNPs (6 genotyped SNPs and 11imputed SNPs) were available for the association analysis using linear regression analysis for age at menarche with controlling current age, waist-to-hip ratio, and body mass index as the covariates. We found replication of the Repro-Gen study in two SNPs; one SNP (rs466639) in the retinoic acid receptor gamma gene (RXRG), showing a significant association with early menarche (beta = -0.224 ± 0.065,p value = 5.2 9 10-4, Bonferroni-corrected p value =0.009), and the other (rs10899489), in GRB2 (growth factor receptor bound protein 2)-associated binding protein 2(GAB2), linked to late menarche (beta = 0.140 ± 0.047,p value = 2.8 9 10-3, Bonferroni-corrected p value =0.049). This result possibly suggests that genetic factors governing AAM in the Korean population would be distinct from those in the Europeans, implying roles of modulating or interacting factors in determining AAM, including environmental factors such as nutritional status.

      • KCI등재
      • KCI등재
      • KCI등재후보

        아프리카 대형 유인원(침팬지, 고릴라) : 특징, 계통 및 진화

        홍경원,김희수 한국생명과학회 2003 생명과학회지 Vol.13 No.2

        침팬지와 고릴라는 영장목의 사람상과에 속한다. 이들은 아프리카 대형 유인원이라 불리며, 그들의 기원은 아프리카이다. 최근 영장류 학자들은 침팬지와 고릴라 각각 2종 5아종으로 분류하고 있다. 인간 게놈 프로젝트가 완성되었지만, 인간의 유전적 질병을 극복하고 인간의 진화를 풀기 위해서는 인간과 가장 유사한 아프리카 대형 유인원에 대한 연구가 요구된다. 인간의 21번에 상응하는 침팬지의 22번 염색체의 서열이 완성되었고, 현재 Y염색체 염기 서열이 분석되고 있다. 인간, 침팬지, 고릴라의 비교 연구로부터 인간이 가지는 다양한 질병에 대한 이해와 실마리를 제공해 줄 것이다. 영장류의 진화 과정에서 인간만이 가지는 기능성 유전자 및 가동성 유전자 (HERV, LINE, SINE)를 탐지해 냄으로 인해, 인간이란 무엇인가\ulcorner 라는 근본적인 의문점을 해명 할 수 있을 것이다. 이러한 영장류의 비교연구를 위해, 우리는 인간을 포함한 아프리카 대형 유인원에 대한 특징, 진화 및 계통 등의 기본적인 지식을 종합정리하여 보고하고자 한다. The chimpanzee and gorilla are classified into hominidae, catarrhini, primates. These species are originated from Africa, so called African great apes. Recently, primatologists have classified that there are 2 species 5 subspecies of the chimpanzee and gorilla, respectively. Since the human genome project has been finished, the chimpanzee genome project has been launched to understand human evolution and genetic diseases. The sequences of chimpanzee chromosome 22 homologous to human chromosome 21 were completed, and then the Y chromosome of chimpanzee is being analyzed. Comparative analysis of human, chimpanzee and gorilla could provide the key for understanding of various human diseases and human origin. By detecting human specific-functional genes or mobile genetic elements (HERV, LINE, SINE) through primate research, we could understand what is human being\ulcorner gradually, For these comparative researches, we summarized fundamental knowledge of the feature, phylogeny and evolution of African great apes including humans.

      연관 검색어 추천

      이 검색어로 많이 본 자료

      활용도 높은 자료

      해외이동버튼