阵发性睡眠性血红蛋白尿 ( paroxysmal nocturnal hemoglobinuria，PNH)是一种少见的获得性克隆性造血干细胞疾病，表现为溶血性贫血、血栓和骨髓衰竭 [1~4]。 PNH是由造血干细胞出现磷 …

Mar 16, 2021 · Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder caused by mutation of the X-linked PIGA gene, resulting in a...

Nov 5, 2020 · Somatic mutations of X-chromosomal PIGA gene in hematopoietic stem cells are the key molecular events in the pathogenesis of PNH. PIGA mutations lead to impaired …

Nov 2, 2023 · Background: Patients with paroxysmal nocturnal hemoglobinuria (PNH) exhibit clonal expansion of hematopoietic cells deficient in glycosylphosphatidylinositol-anchored …

It is caused by somatic mutation of the X-linked PIGA gene, resulting in a deficient expression of glycosylphosphatidylinositol-anchored proteins (GPI-APs). In this study, we aimed to explore …

May 18, 2017 · Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle...

Apr 25, 2018 · Somatic PIGA gene mutations initiate pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH) [1, 2] and exemplify evolutional somatic adaptability of hematopoietic …

May 2, 2020 · Mutational analysis of PIGA identified 124 mutations in 92% PNH patients, including 101 distinct mutations and 23 recurrent mutations. Among them, 102 mutations were …

Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant clonal hematopoietic disorder characterized by the lack of glycosylphosphatidylinositol-anchored proteins (GPI-APs) as a …

May 1, 1994 · Our results provide convincing evidence that alterations in the Piga gene are responsible for PNH. Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal …