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804 results

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Page 1
Paroxysmal nocturnal hemoglobinuria.
Brodsky RA. Brodsky RA. Blood. 2014 Oct 30;124(18):2804-11. doi: 10.1182/blood-2014-02-522128. Epub 2014 Sep 18. Blood. 2014. PMID: 25237200 Free PMC article. Review.
GPI anchor protein deficiency is almost always due to somatic mutations in phosphatidylinositol glycan class A (PIGA), a gene involved in the first step of GPI anchor biosynthesis; however, alternative mutations that cause PNH have recently been discovered. In addit …
GPI anchor protein deficiency is almost always due to somatic mutations in phosphatidylinositol glycan class A (PIGA), a gene …
Paroxysmal Nocturnal Hemoglobinuria: Biology and Treatment.
Bravo-Perez C, Guarnera L, Williams ND, Visconte V. Bravo-Perez C, et al. Medicina (Kaunas). 2023 Sep 6;59(9):1612. doi: 10.3390/medicina59091612. Medicina (Kaunas). 2023. PMID: 37763731 Free PMC article. Review.
Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant clonal hematopoietic disorder characterized by the lack of glycosylphosphatidylinositol-anchored proteins (GPI-APs) as a consequence of somatic mutations in the phosphatidylinositol glycan anchor biosynthesis class A ( …
Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant clonal hematopoietic disorder characterized by the lack of glycosylphosphatidyli …
Paroxysmal nocturnal haemoglobinuria.
Hill A, DeZern AE, Kinoshita T, Brodsky RA. Hill A, et al. Nat Rev Dis Primers. 2017 May 18;3:17028. doi: 10.1038/nrdp.2017.28. Nat Rev Dis Primers. 2017. PMID: 28516949 Free PMC article. Review.
The gene product of PIGA is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; thus, PIGA mutations lead to a deficiency of GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotei …
The gene product of PIGA is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; thus, PIGA mut …
Insights Into the Emergence of Paroxysmal Nocturnal Hemoglobinuria.
Colden MA, Kumar S, Munkhbileg B, Babushok DV. Colden MA, et al. Front Immunol. 2022 Jan 28;12:830172. doi: 10.3389/fimmu.2021.830172. eCollection 2021. Front Immunol. 2022. PMID: 35154088 Free PMC article. Review.
PNH patients develop somatic loss-of-function mutations in phosphatidylinositol N-acetylglucosaminyltransferase subunit A gene (PIGA), required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. ...The loss of two GPI-anchored surface proteins, CD55 …
PNH patients develop somatic loss-of-function mutations in phosphatidylinositol N-acetylglucosaminyltransferase subunit A gene (PI …
Gut microbiota alternation under the intestinal epithelium-specific knockout of mouse Piga gene.
Jangid A, Fukuda S, Seki M, Suzuki Y, Taylor TD, Ohno H, Prakash T. Jangid A, et al. Sci Rep. 2022 Jun 25;12(1):10812. doi: 10.1038/s41598-022-15150-5. Sci Rep. 2022. PMID: 35752737 Free PMC article.
Properly polarised epithelial cells are essential for the establishment of the barrier function of gut epithelia. The Piga gene is one among seven genes that encode for an enzyme which is involved in the first step of GPI-anchor biosynthesis. This is the firs …
Properly polarised epithelial cells are essential for the establishment of the barrier function of gut epithelia. The Piga gene …
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes. In this review, we comprehensively describe the main features of both …
The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic …
Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.
Ware RE, Rosse WF, Howard TA. Ware RE, et al. Blood. 1994 May 1;83(9):2418-22. Blood. 1994. PMID: 8167330 Free article.
In all patients tested thus far, the defect is at the level of N-acetylglucosamine attachment to phosphatidylinositol (complementation class A defect). A human cDNA, Piga, that repairs cell lines with the class A defect has been recently cloned, making Piga a candid …
In all patients tested thus far, the defect is at the level of N-acetylglucosamine attachment to phosphatidylinositol (complementation class …
Simple monitoring of gene targeting efficiency in human somatic cell lines using the PIGA gene.
Karnan S, Konishi Y, Ota A, Takahashi M, Damdindorj L, Hosokawa Y, Konishi H. Karnan S, et al. PLoS One. 2012;7(10):e47389. doi: 10.1371/journal.pone.0047389. Epub 2012 Oct 8. PLoS One. 2012. PMID: 23056640 Free PMC article.
Using this PIGA-based reporter system, we successfully detected adeno-associated virus (AAV)-mediated gene targeting events both with and without promoter-trap enrichment of gene-targeted cell population. ...Thus, our PIGA-based system is useful for mo …
Using this PIGA-based reporter system, we successfully detected adeno-associated virus (AAV)-mediated gene targeting events bo …
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Liu X, Meng J, Ma J, Shu J, Gu C, Chen X, Li D, Cai C. Liu X, et al. Mol Biol Rep. 2022 Nov;49(11):10469-10477. doi: 10.1007/s11033-022-07614-8. Epub 2022 Sep 18. Mol Biol Rep. 2022. PMID: 36116096 Review.
BACKGROUND: PIGA (PIG class A) gene codes for the PIG-A protein, which is a catalytic subunit of GPI-GlcNAc transferase. GPI-anchored proteins play an important role in the metabolism of mammals. Somatic variants of PIGA genes in bone marrow hematopoie …
BACKGROUND: PIGA (PIG class A) gene codes for the PIG-A protein, which is a catalytic subunit of GPI-GlcNAc transferase. GPI-a …
[Acquired aplastic anemia].
Hosokawa K, Nakao S. Hosokawa K, et al. Rinsho Ketsueki. 2019;60(5):417-422. doi: 10.11406/rinketsu.60.417. Rinsho Ketsueki. 2019. PMID: 31168007 Review. Japanese.
Recently, genomic studies have revealed clonal hematopoiesis by HSCs with altered genes. PIGA, DNMT3A, ASXL1, BCOR, 6pLOH, and HLA class I allele mutations are common in patients with AA. ...
Recently, genomic studies have revealed clonal hematopoiesis by HSCs with altered genes. PIGA, DNMT3A, ASXL1, BCOR, 6pLOH, and …
804 results