Kyoto University · Medicine
Seishi Ogawa 교수의 연구실은 골수이四项성증후군(MDS)을 비롯한 혈액계 종양의 유전적 기반을 규명하는 데 초점을 맞추고 있습니다. 특히 RNA 스플라이싱, 에피제네틱 조절, DNA 메틸화와 관련된 유전자 변이의 기능적 역할과 임상적 영향을 분석하며, MDS의 분류 및 진단 기준에 기여하고자 합니다. SF3B1 돌연변이가 포함된 MDS는 고유한 임상 양상과 예후를 보이며, 이는 새로운 질환 유형으로 인정받을 만큼 중요한 연구 주제입니다.
Figures are computed from collected data and may differ slightly.
Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related myeloid disorders has been dramatically improved during the past decade, in which revolutionized sequencing technologies have played a major role. Through intensive efforts of sequencing of a large number of MDS genomes, a comprehensive registry of driver mutations recurrently found in a recognizable fraction of MDS patients has been revealed, and ongoing efforts are being made to clarify their impacts on clinical ph
The 2016 revision of the World Health Organization classification of tumors of hematopoietic and lymphoid tissues is characterized by a closer integration of morphology and molecular genetics. Notwithstanding, the myelodysplastic syndrome (MDS) with isolated del(5q) remains so far the only MDS subtype defined by a genetic abnormality. Approximately half of MDS patients carry somatic mutations in spliceosome genes, with SF3B1 being the most commonly mutated one. SF3B1 mutation identifies a condit
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