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1 de dic. de 2023 · Takenouchi-Kosaki Syndrome (TKS), a rare genetic disorder caused by a de novo mutation in the CDC42 gene is modeled using patient-derived iPSCs. •. Macrothrombocytopenia, the hallmark TKS phenotype is recapitulated by TKS-iPSCs using a modified platelet producing protocol. •. This study emphasizes the role of Cdc42 in megakaryocyte and ...
研究成果の学術的意義や社会的意義. 本研究の成果をもとに、さらに治療に向けた研究に発展させるため、2018年度から日本医療研究開発機構 難治性疾患克服研究事業「CDC42阻害剤による武内・小崎症候群の治療法の開発」研究班が発足した。. 本疾患が2019 ...
CDC42阻害剤による武内・小崎症候群の治療法の開発研究班. CDC42遺伝子異常症、Takenouchi-Kosaki症候群とは、巨大血小板性血小板減少症、知的障害、特徴的顔貌、感音性難聴、屈指、リンパ浮腫、反復性の感染症、甲状腺機能低下症などを特徴とする先天異常 ...
18 de may. de 2020 · CDC42 is a Ras-related GTP-binding protein that plays roles in a variety of biologic activities including cell adhesion, migration, polarization, proliferation, and malignant transformation. Germline pathogenic heterozygous mutations in CDC42 lead to Takenouchi-Kosaki syndrome, presenting with neurodevelopmental delay, distinctive facial ...
4 de abr. de 2018 · Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema.
5 de jun. de 2023 · Herein, we report a pediatric patient with the Takenouchi-Kosaki syndrome due to a heterozygous p.Tyr64Cys variant in CDC42 manifesting as a congenital malformation complex accompanied by macrothrombocytopenia, poor specific antibody response, B and T cell immunodeficiency, and low serum immunoglobulin A level.
12 de mar. de 2020 · In contrast to patients with the classical Takenouchi–Kosaki syndrome and similarly to our patient, systemic autoinflammatory disease and development of HLH were predominating manifestations in four patients with three distinct C-terminal de novo variants (p.C188Y, p.R186C, p. * 192C * 24) in CDC42 reported by Gernez et al. .
