Recombinant Human Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA), partial

1. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. PMID: 29974678
2. The study established a human induced pluripotent stem cell (hiPSC) model containing the PIGAc.1234C>T mutation to study the effects of a hypomorphic allele of PIGA on neuronal development. Neuronal differentiation from neural progenitor cells generated by embryoid bodie formation in PIGAc.1234C>T is significantly impaired with decreased proliferation, aberrant synapse formation and abnormal membrane depolarization. PMID: 28441409
3. Pig-a MFs as measured by the RBC Pig-a assay for the ENU-treated group increased in a time-dependent manner with the maximum value at week 4; however, those using the PIGRET assay reached comparable values at week 1 PMID: 27931808
4. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. PMID: 26545172
5. This case reports on a new missense PIGA germline mutation in a Chinese male infant presenting with developmental arrest and multisystemic disorders. PMID: 25885527
6. the PIGA mutation in this family likely causes a reduction in GPI anchor protein cell surface expression in various cell types, resulting in the observed pleiotropic phenotype involving central nervous system, skin, and iron metabolism. PMID: 24259288
7. Our data strongly suggest that the early frameshift mutation in PIGA produces a truncated hypomorph, which is sufficient to rescue the lethality in males but not the MCAHS2-like phenotype. PMID: 24357517
8. The results of this study confirmed that PIGA mutations are one genetic cause of early-onset epileptic encephalopathies, suggesting that GPI-anchor deficiencies may be an underlying cause of EOEE. PMID: 24706016
9. The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells. PMID: 22315493
10. An X chromosome exome next-generation sequencing screen identified a single nonsense PIGA mutation. PMID: 22305531
11. loss of PIG-A or a combination of genes within the 0.5 Mb commonly deleted region leads to a phenotype capable of avoiding immune surveillance, but is not inherently malignant. PMID: 21116280
12. the PIG-A mutations in paroxysmal nocturnal hemoglobinuria patients PMID: 15625823
13. Molecular testing for mutations in the PIG-A gene can serve as a confirmation test of paroxysmal nocturnal hemoglobinuria. PMID: 12037021
14. Decreased susceptibility of leukemic cells with PIG-A mutation to natural killer cells in vitro allows paroxysmal nocturnal hemoglobinuria clones to escape immune attack. PMID: 12130519
15. PIG-A gene abnormality in precursor cells and changes of expression of GPI-anchored protein and contribution of paroxysmal nocturnal hemoglobinuria clones with PIG-A gene abnormalities among various cell lineages during differentiation and maturation PMID: 12411324
16. The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria reveals a high incidence of multiple mutations and evidence of a mutational hot spot. PMID: 12424196
17. PIG-A mutations are relatively common in normal hematopoiesis PMID: 15687243
18. review of the clinical and biological relevance of PIG-A mutations in paroxysmal nocturnal hemoglobinuria, aplastic anemia and healthy controls [review] PMID: 16923549
19. In patients with paroxysmal nocturnal hemoglobinuria, it is very unlikely that more than one PIG-A mutated clone arises at the level of the hematopoietic stem cells. PMID: 17823237
20. PIG-A mutations contribute to clonal expansion in PNH by conferring a survival advantage to hematopoietic progenitors under proapoptotic stresses. PMID: 19013003
21. Paroxysmal nocturnal hemoglobinuria is an acquired hemolytic anemia caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked PIGA gene. PMID: 19074066

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HGNC: 8957

OMIM: 300818

KEGG: hsa:5277

STRING: 9606.ENSP00000369820

UniGene: Hs.137154