| Автор | Kinoshita, M.D, Taroh |
| Автор | Inoue, M.D, Norimitsu |
| Автор | Takeda, M.D, Junji |
| Дата выпуска | 1996 |
| dc.description | ▪ Abstract Patients with paroxysmal nocturnal hemoglobinuria have one or more mutant hematopoietic stem cell clones deficient in glycosylphosphatidylinositol (GPI)-anchor synthesis owing to somatic mutations in the X-linked gene PIG-A. The progeny of mutant stem cells dominates the peripheral blood. The presence of a large number of GPI-anchor deficient, complement-sensitive erythrocytes leads to hemolytic anemia. The somatic mutations in PIG-A are small, various, and widely distributed in the coding regions and splice sites, indicating they occur randomly. Profiles of the mutations vary geographically, suggesting the presence of mutagen-induced mutations. The clonal dominance by the mutants does not seem to be solely due to the PIG-A mutation but may be caused either by autonomous expansion of the mutants due to a combination of the PIG-A mutation and some other genetic change(s) or by selection that preferentially suppresses normal stem cells. |
| Формат | application.pdf |
| Издатель | Annual Reviews |
| Копирайт | Annual Reviews |
| Название | ROLE OF PHOSPHATIDYLINOSITOL-LINKED PROTEINS IN PAROXYSMAL NOCTURNAL HEMOGLOBINURIA PATHOGENESIS |
| DOI | 10.1146/annurev.med.47.1.1 |
| Print ISSN | 0066-4219 |
| Журнал | Annual Review of Medicine |
| Том | 47 |
| Первая страница | 1 |
| Последняя страница | 10 |
| Аффилиация | Kinoshita, M.D, Taroh; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan |
