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9 de sept. de 2021 · Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 exhibits a variety of clinical manifestations, including immunological and hematological anomalies. In … Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics.
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、脳構造異常、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症候群の一つです。
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 ...
武内・小崎症候群 Takenouchi-Kosaki syndrome. ... Takenouchi, T., Kosaki, K. (2016). Jacobsen syndrome, braddock-carey syndrome, and beyond: Reflections on intellectual disability accompanied with thrombocytopenia. American journal of medical genetics. Part A, 170 ...
9 de sept. de 2021 · Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics. Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 ...
Specific classes of de novo heterozygous gain-of-function pathogenic variants of the PDGFRB (platelet-derived growth factor receptor-beta) cause a distinctive overgrowth syndrome, named the Kosaki overgrowth syndrome (KOGS) (OMIM #616592). Until now, six patients with this condition have been report …
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 ...
