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      KCI등재 SCOPUS SCIE

      Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases

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      https://www.riss.kr/link?id=A108050548

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      다국어 초록 (Multilingual Abstract)

      Patients suffering from rare human diseases often go through a painful journey for finding a definite molecular diagnosis prerequisite of appropri- ate cures. With a novel variant isolated from a single patient, determination of its pathogenicity to end such “diagnostic odyssey” requires multi-step processes involving experts in diverse areas of interest, including clinicians, bioinformaticians and research scientists. Recent efforts in building large-scale genomic databases and in silico prediction platforms have facilitated identification of potentially pathogenic variants causative of rare human diseases of a Mendelian basis. However, the functional significance of individual variants remains elusive in many cases, thus requiring incorporation of versatile and rapid model organism (MO)-based platforms for functional analyses. In this review, the current scope of rare disease research is briefly discussed. In addition, an overview of invertebrate MOs for their key features relevant to rare neurological diseases is provided, with the characteristics of two representative invertebrate MOs, Drosophila melanogaster and Caenorhabditis elegans , as well as the challenges against them. Finally, recently developed research networks integrating these MOs in collaborative research are portraited with an array of bio- informatical analyses embedded. A comprehensive survey of MO-based research activities provided in this review will help us to design a well- structured analysis of candidate genes or potentially pathogenic variants for their roles in rare neurological diseases in future.
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      Patients suffering from rare human diseases often go through a painful journey for finding a definite molecular diagnosis prerequisite of appropri- ate cures. With a novel variant isolated from a single patient, determination of its pathogenicity to e...

      Patients suffering from rare human diseases often go through a painful journey for finding a definite molecular diagnosis prerequisite of appropri- ate cures. With a novel variant isolated from a single patient, determination of its pathogenicity to end such “diagnostic odyssey” requires multi-step processes involving experts in diverse areas of interest, including clinicians, bioinformaticians and research scientists. Recent efforts in building large-scale genomic databases and in silico prediction platforms have facilitated identification of potentially pathogenic variants causative of rare human diseases of a Mendelian basis. However, the functional significance of individual variants remains elusive in many cases, thus requiring incorporation of versatile and rapid model organism (MO)-based platforms for functional analyses. In this review, the current scope of rare disease research is briefly discussed. In addition, an overview of invertebrate MOs for their key features relevant to rare neurological diseases is provided, with the characteristics of two representative invertebrate MOs, Drosophila melanogaster and Caenorhabditis elegans , as well as the challenges against them. Finally, recently developed research networks integrating these MOs in collaborative research are portraited with an array of bio- informatical analyses embedded. A comprehensive survey of MO-based research activities provided in this review will help us to design a well- structured analysis of candidate genes or potentially pathogenic variants for their roles in rare neurological diseases in future.

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      참고문헌 (Reference)

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      연월일 이력구분 이력상세 등재구분
      2023 평가예정 해외DB학술지평가 신청대상 (해외등재 학술지 평가)
      2020-01-01 평가 등재학술지 유지 (해외등재 학술지 평가) KCI등재
      2015-01-01 평가 등재학술지 선정 (계속평가) KCI등재
      2013-01-01 평가 등재후보 1차 FAIL (등재후보1차) KCI등재후보
      2012-01-01 평가 등재후보학술지 유지 (기타) KCI등재후보
      2010-01-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      2016 0.25 0.25 0.22
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