| 1 | GPIBD20, HPMR, HPMRS4, MCAHS, MCAHS2, PGAP3, PIGA, PIGN, PIGU, PIGV
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| Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
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| Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM.
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| Am J Hum Genet 105(2):395-402. doi: 10.1016/j.ajhg.2019.06.009. Epub 2019 Jul 25. 2019
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| 2 | MCAHS, MCAHS2, PIGA, PIGN
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| Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
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| Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.
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| Genome Med 10(1):3. doi: 10.1186/s13073-017-0510-5. 2018
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| 3 | MCAHS2, PIGA
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| A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
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| Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A.
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| Am J Med Genet A 170(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6.
2016
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| 4 | PIGA, PNH
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| Paroxysmal nocturnal hemoglobinuria induced by the occurrence of BCR-ABL in a PIGA mutant hematopoietic progenitor cell.
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| Tominaga R, Katagiri T, Kataoka K, Wee RK, Maeda A, Gomyo H, Mizuno I, Murayama T, Ogawa S, Nakao S.
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| Leukemia eukemia. 2015 Oct 6. doi: 10.1038/leu.2015.268. [Epub ahead of print] No abstract available.
2015
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| 5 | MCAHS2, PIGA
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| The genotypic and phenotypic spectrum of PIGA deficiency.
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| Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD.
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| Orphanet J Rare Dis 10:23. doi: 10.1186/s13023-015-0243-8.
2015
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| 6 | MCAHS2, PIGA
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| Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
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| Belet S, Fieremans N, Yuan X, Van Esch H, Verbeeck J, Ye Z, Cheng L, Brodsky BR, Hu H, Kalscheuer VM, Brodsky RA, Froyen G.
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| Hum Mutat 35(3):350-5. doi: 10.1002/humu.22498. Epub 2014 Jan 13.
2014
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| 7 | MCAHS2, PIGA
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| PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
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| Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
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| Neurology 82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4.
2014
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| 8 | MCAHS2, PIGA
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| A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
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| Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.
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| Am J Med Genet A 164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.
2014
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| 9 | MCAHS2, PIGA
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| Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
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| van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM.
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| Am J Med Genet A 164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Review.
2014
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| 10 | MCAHS, MCAHS2, PIGA, PIGN, PNH
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| The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria.
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| Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG.
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| Am J Hum Genet 90(2):295-300. Epub 2012 Feb 2. 2012
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| 11 | PIGA
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| The use of PIG-A as a sentinel gene for the study of the somatic mutation rate and of mutagenic agents in vivo.
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| Peruzzi B, Araten DJ, Notaro R, Luzzatto L.
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| Mutat Res 705(1):3-10. Epub 2009 Dec 24.PMID: 20034593 2010
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| 12 | PIGA, PNH
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| Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH).
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| Inoue N, Izui-Sarumaru T, Murakami Y, Endo Y, Nishimura J, Kurokawa K, Kuwayama M, Shime H, Machii T, Kanakura Y, Meyers G, Wittwer C, Chen Z, Babcock W, Frei-Lahr D, Parker CJ, Kinoshita T.
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| Blood 108(13):4232-6. Epub 2006 Aug 29.
2006
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| 13 | PIGA, PNH
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| The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot.
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| Mortazavi Y, Merk B, McIntosh J, Marsh JC, Schrezenmeier H, Rutherford TR; BIOMED II Pathophysiology and Treatment of Aplastic Anaemia Study Group.
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| Blood 101(7):2833-41. Epub 2002 Nov 07. 2003
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| 14 | PIGA, PNH
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| Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria.
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| Kai T, Shichishima T, Noji H, Yamamoto T, Okamoto M, Ikeda K, Maruyama Y.
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| Blood 100(10):3812-8. 2002
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| 15 | PIGA, PNH
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| Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.
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| Yoon JH, Cho HI, Park SS, Chang YH, Kim BK.
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| J Clin Pathol 55(6):410-3. 2002
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| 16 | CD59, CD59D, PIGA, PNH
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| CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia.
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| Azenishi Y, et al.
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| Br J Haematol 104(3):523-9. 1999
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| 17 | PIGA, PNH
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| The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.
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| Nafa K, Bessler M, Castro-Malaspina H, Jhanwar S, Luzzatto L.
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| Blood Cells Mol Dis 24 : 370-384. 1998
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| 18 | PIGA, PIGC, PIGH, PIGL, PIGQ
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| The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.
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| Watanabe R, Inoue N, Westfall B, Taron CH, Orlean P, Takeda J, Kinoshita T.
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| EMBO J 17(4):877-85. 1998
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| 19 | PIGA, PNH
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| Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.
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| Brodsky RA, Vala MS, Barber JP, Medof ME, Jones RJ.
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| Proc Natl Acad Sci U S A 94(16):8756-60. 1997
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| 20 | PIGA, PNH
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| Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.
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| Maugard C, Margueritte G, Tuffery S, Rabesandratana H, Demaille J, Claustres M.
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| Br J Haematol 98(1):21-4. 1997
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| 21 | PIGA, PNH
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| Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG-A gene.
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| Pavlu J, Mortazavi Y, Tooze J, Marsh JC, Gordon-Smith EC, Rutherford TR.
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| Br J Haematol 98(2):289-91. 1997
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| 22 | PIGA, PNH
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| Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.
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| Savoia A, et al.
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| Hum Genet 97 : 45-48. 1996
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| 23 | PNH, PIGA
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| Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria.
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| Endo M, et al.
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| Blood 87 : 2546-2557. 1996
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| 24 | PIGA, PNH
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| Identification and characterization of an inherited mutation of PIG-A ina patient with paroxysmal nocturnal haemoglobinuria.
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| Endo M, et al.
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| Br J Haematol 93 : 590-593. 1996
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| 25 | PIGA, PIGH
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| PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum.
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| Watanabe R, Kinoshita T, Masaki R, Yamamoto A, Takeda J, Inoue N.
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| J Biol Chem 271(43):26868-75. 1996
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| 26 | PIGA, PNH
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| Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type.
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| Nafa K, et al.
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| Blood 86 : 4650-4655. 1995
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| 27 | DXS69E, GEMIN8, GLRA2, PIGA, GRPR, S100G, PHKA2
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| A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes.
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| Alitalo T, et al.
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| Genomics 25 : 691-700. 1995
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| 28 | PIGA, PNH
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| Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria.
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| Yamada N, et al.
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| Blood 85 : 885-892. 1995
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| 29 | PIGA, PNH
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| Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.
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| Bessler M, et al.
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| EMBO J 13 : 110-117. 1994
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| 30 | PIGA, PNH
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| Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria.
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| Miyata T, et al.
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| N Engl J Med 330 : 249-255. 1994
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| 31 | PNH, PIGA
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| Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.
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| Bessler M, et al.
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| Lancet 343 : 951-953. 1994
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| 32 | PIGA, PIGAP1
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| Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21.
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| Bessler M, et al.
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| Hum Mol Genet 3 : 751-757. 1994
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| 33 | PIGA, PNH
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| Development of the glycosylphosphatitylinositol-anchoring defect characteristic for paroxysmal nocturnal hemoglobinuria in patients with aplastic anemia.
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| Schubert J, et al.
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| Blood 83 : 2323-2328. 1994
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| 34 | PNH, PIGA
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| Characterization of genomic PIG-A gene : a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.
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| Iida Y, et al.
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| Blood 83 : 3126-3131. 1994
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| 35 | PIGA, PNH
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| Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria.
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| Bessler M, et al.
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| Br J Haematol 87 : 863-866. 1994
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| 36 | PIGA
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| A -5 Mb YAC contig in Xp22.1-p22.2 spanning the DXS69, XE59, GLRA2, PIGA, GRPR and CaBP loci. (abstr)
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| Alitalo T, et al.
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| Cytogenet Cell Genet 67 : 329. 1994
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| 37 | PIGA, PIGH, PIGF
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| Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis : implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria.
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| Ware RE, et al.
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| Blood 83 : 3753-3757. 1994
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| 38 | PIGA, PNH
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| Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
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| Takeda J, et al.
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| Cell 73 : 703-711. 1993
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| 39 | PIGA
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| The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis.
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| Miyata T, et al.
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| Science 259 : 1318-1320. 1993
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