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

      오늘 본 자료

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

        New Relations for the Normal Subgroups of Hecke Groups

        Musa DEMIRCI,Osman AKBAYRAK,Aydin OZBEK,Ugur ANA 장전수학회 2021 Proceedings of the Jangjeon mathematical society Vol.24 No.2

        For an integer q ≥ 3, Hecke groups H(λq) are an important class of discrete groups with the most important member being the famous modular group obtained in the case of q = 3. They were defined by E. Hecke in 1936 when he was studying with Dirichlet series. There are a number of research papers on the properties of Hecke groups, their normal subgroups and the relation with regular maps. Here we add some recent results to state new relations between the parameters of the normal subgroups of Hecke groups and the corresponding regular maps which are also graphs in combinatorial sense by means of a new graph invariant called omega which was recently defined in 2018.

      • KCI등재

        Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

        Mercan Sevcan,Akcakaya Nihan Hande,Salman Baris,Yapici Zuhal,Ozbek Ugur,Sibel Aylin Ugur Iseri 한국유전학회 2023 Genes & Genomics Vol.45 No.1

        Background Syndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting extreme genetic and clinical heterogeneity. This layered heterogeneity can partially be resolved by unbiased genetic approaches targeting the genome with next generation sequencing (NGS) technologies, including exome sequencing (ES). Objective This study was performed to dissect the clinical and genetic features in five distinct IDM cases. Methods Singleton or trio ES approach followed by in-depth variant analysis using alternative inheritance models was performed. Results We have identified biallelic loss of function variants in genes WDR62 and AP4M1 in three families, together with de novo missense variants in genes SOX11 and TRIO in two families. ES based haplotype analysis in two cases upon identification of an identical WDR62 variant in the homozygous state in two cases was suggestive of a small shared haplotype of 0.1 Mb. Additionally, we have shown a paternal origin for the de novo variant in TRIO via a polymorphic tag SNP, which enlightens the mutational mechanism for this variant. Conclusion In populations with high parental consanguinity, an autosomal recessive inheritance pattern for data analysis is usually the most obvious choice. Therefore, heterozygous variants may be overlooked in standard NGS analyses in consanguineous families. Our findings underlie the importance of using multiple inheritance models in NGS data analysis.

      • KCI등재

        Real-Time PCR analysis of af4 and dek genes expression in acute promyelocytic leukemia t (15; 17) patients

        Hakan Savli,Sema Sirma, Balint Nagy,Melih Aktan,Guncag Dinco,Zafer Salcioglu,Nazan Sarper,Ugur Ozbek 생화학분자생물학회 2004 Experimental and molecular medicine Vol.36 No.3

        Among several newly identified oncogenes, dek and af4 are atractive targets for researchers interested with leukemia. In this study quanti-define alterations in expresion of dek and af4 genes associated with acute promyelocytic leu-kaemia (APL) t (15; 17). RNA samples obtained from bone marow aspirates of fourten APL patients, cDNA portions were labelled with Sy-ber Gren 1 dye and LightCycler analysis have been performed. Expression changes in patients were found not significant in comparison to healthy donors for af4 (P = 0.192) and dek (P = 0.0895). We sugest that af4 gene may have a blastic lineage; also further studies must cary on with a larger series of patients in order to understand the relationship betwen the dek gene and APL. Our study was the first attempt for analysing dek and af4 genes in APL t (15; 17) patients by quantitative Real-Time RT-PCR. This rapid and sensitive method could be used to screen these genes in diferent types of leukaemia.

      연관 검색어 추천

      이 검색어로 많이 본 자료

      활용도 높은 자료

      해외이동버튼