- A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy
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Hwang JK, Cha TH, Jang JH, Park HK, Kim CR, Seol IJ, Lee HJ
- KMID: 2367039
- Perinatology.
- 2016 Dec;27(4):260-263.
- doi: 10.14734/PN.2016.27.4.260
Multiple congenital anomalies-hypotonia-seizures syndrome-2 is a genetic disorder also known as infantile epileptic encephalopathy. This disorder is associated with a mutation in the PIGA gene, resulting in defective in glycosylphosphatidylinositol... -
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- A Case of Coexistence with Myelodysplastic Syndrome and Paroxysmal Nocturnal Hemoglobinuria: Confirmed by Reticulocytes Survival Test and Glycosylphosphatidylinositol (GPI)-linked Protein Test
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Lim JH, Kim Y, Kim DW, Jin JY, Han CW, Han K, Shim SI, Kim CC
- KMID: 2038504
- Korean J Hematol.
- 1997 Nov;32(3):465-469.
A patient presenting paroxysmal nocturnal hemoglobinuria (PNH) cloned cells in the course of myelodysplastic syndrome (MDS) with reticulocytosis is described. The bone marrow biopsy demonstrated erythroid hyperplasia and moderate dysplasia.... -
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- Folate Receptor-Targeted Diagnostics and Therapeutics for Inflammatory Diseases
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Yi YS
- KMID: 2362798
- Immune Netw.
- 2016 Dec;16(6):337-343.
- doi: 10.4110/in.2016.16.6.337
Inflammation, an innate immune response mediated by macrophages, forms the first line of defence to protect our body from the invasion of various pathogens. Although inflammation is a defensive response,... -
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- Mutation Analysis of PIG-A Gene in Korean Patients with Paroxysmal Nocturnal Hemoglobinuria
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Yoon JH, Cho HI, Park SS, Chang YH
- KMID: 2083413
- Korean J Hematol.
- 2000 May;35(2):143-149.
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is caused by deficient biosynthesis of the glycosylphosphatidylinositol (GPI) anchor in hemopoietic stem cells. Mutation of phosphatidyl inositol glycan class A (PIG-A) gene, an X-linked... -
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- Trypanosome Glycosylphosphatidylinositol Biosynthesis
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Hong Y, Kinoshita
- KMID: 1729449
- Korean J Parasitol.
- 2009 Sep;47(3):197-204.
- doi: 10.3347/kjp.2009.47.3.197
Trypanosoma brucei, a protozoan parasite, causes sleeping sickness in humans and Nagana disease in domestic animals in central Africa. The trypanosome surface is extensively covered by glycosylphosphatidylinositol (GPI)-anchored proteins known... -
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- Structural analyses of putative porcine cluster of differentiation (CD) 24 gene
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Ko H, Chai HH, Jang GW, Park JE, Kim JM, Lee KT
- KMID: 2436120
- J Biomed Transl Res.
- 2018 Mar;19(1):1-9.
- doi: 10.12729/jbtr.2018.19.001
Cluster of differentiation (CD) 24 or heat stable antigen 24 (HSA) molecule is a mucin-type glycoprotein attached to the cell surface by glycosylphosphatidylinositol (GPI)-anchor, promoting adhesive interactions between cells or... -
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