| Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation. | Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.
Crenshaw MM, Thompson L, Piqué DG, Micke K, Saenz M, Baker PR 2nd. | 11/16/2023 |
| PIG-A gene mutation as a mutagenicity biomarker among coke oven workers. | PIG-A gene mutation as a mutagenicity biomarker among coke oven workers.
Xi J, Cao Y, Wang Y, You X, Liu W, Wang T, Yin J, Ma J, Wang Z, Wu N, Zhang X, Duan H, Luan Y. | 09/6/2023 |
| Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction. | Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.
Muckenthaler L, Marques O, Colucci S, Kunz J, Fabrowski P, Bast T, Altamura S, Höchsmann B, Schrezenmeier H, Langlotz M, Richter-Pechanska P, Rausch T, Hofmeister-Mielke N, Gunkel N, Hentze MW, Kulozik AE, Muckenthaler MU., Free PMC Article | 03/19/2022 |
| Mutations in PIGA cause a CD52-/GPI-anchor-deficient phenotype complicating alemtuzumab treatment in T-cell prolymphocytic leukemia. | Mutations in PIGA cause a CD52-/GPI-anchor-deficient phenotype complicating alemtuzumab treatment in T-cell prolymphocytic leukemia.
Johansson P, Klein-Hitpass L, Röth A, Möllmann M, Reinhardt HC, Dührsen U, Dürig J. | 09/25/2021 |
| Implication of PIGA genotype on erythrocytes phenotype in Paroxysmal Nocturnal Hemoglobinuria. | Implication of PIGA genotype on erythrocytes phenotype in Paroxysmal Nocturnal Hemoglobinuria.
Gurnari C, Pagliuca S, Patel BJ, Awada H, Kongkiatkamon S, Terkawi L, Zawit M, Corey S, Lichtin AE, Carraway HE, Wahida A, Visconte V, Maciejewski JP., Free PMC Article | 09/4/2021 |
| PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity. | PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity.
Perk Yucel P, Mutlu Albayrak H. | 06/5/2021 |
| Evaluation of PIG-A-mutated granulocytes and ex-vivo binucleated micronucleated lymphocytes frequencies after breast cancer radiotherapy in humans. | Evaluation of PIG-A-mutated granulocytes and ex-vivo binucleated micronucleated lymphocytes frequencies after breast cancer radiotherapy in humans.
Bonetto RM, Castel P, Robert SP, Tassistro VM, Claeys-Bruno M, Sergent M, Delecourt CA, Cowen D, Carcopino X, Orsière TG. | 04/24/2021 |
| Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases. | Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM. | 01/16/2021 |
| Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria. | Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria.
Li J, Lin Y, Chen L, Qin L, Tan H, Zou J, Zhang D, Nie Y, Wang G, Zhang H, Liu E, Chen X, Ru K. | 01/9/2021 |
| Lessons learned from 40 novel PIGA patients and a review of the literature. | Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. | 12/5/2020 |
| The presence of PIGA mutations in approximately 80% of PNH patients. No detection of any phenotypic differences between patients with and without PIGA mutation, it could not fully explain the clonal expansion of PNH cells based on PIGA mutation alone. | Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of PIGA Mutations and T-cell Receptor Clonality.
Park J, Kim M, Kim Y, Han K, Chung NG, Cho B, Lee SE, Lee JW., Free PMC Article | 08/17/2019 |
| REVIEW: A somatic mutation of the PIGA gene underlies the clonal disease paroxysmal nocturnal haemoglobinuria (PNH): there is direct evidence that the expansion of the PIGA mutant clone results from Darwinian selection exerted by a glycosyl-phosphatidyl-inositol -specific auto-immune attack. Thus, PNH patients are a unique subset of patients with AA, in whom haematopoiesis recovers through this escape mechanism. | Advances in understanding the pathogenesis of acquired aplastic anaemia.
Luzzatto L, Risitano AM. | 07/20/2019 |
| Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria. | Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria.
Clemente MJ, Przychodzen B, Hirsch CM, Nagata Y, Bat T, Wlodarski MW, Radivoyevitch T, Makishima H, Maciejewski JP., Free PMC Article | 06/15/2019 |
| This polyclonal mutational landscape in the PIGA gene was also found in CD52(-) T cells present. | High Mutation Frequency of the PIGA Gene in T Cells Results in Reconstitution of GPI Anchor(-)/CD52(-) T Cells That Can Give Early Immune Protection after Alemtuzumab-Based T Cell-Depleted Allogeneic Stem Cell Transplantation.
Loeff FC, Falkenburg JHF, Hageman L, Huisman W, Veld SAJ, van Egmond HME, van de Meent M, von dem Borne PA, Veelken H, Halkes CJM, Jedema I. | 02/23/2019 |
| We used the peripheral blood micronucleus assay to evaluate the chromosomal damage, and Pig-a gene mutation assay and gpt gene mutation assay to examine the mutagenicity of BDE-47. | Gene mutation and micronucleus assays in gpt delta mice treated with 2,2',4,4'-tetrabromodiphenyl ether.
You X, Ando T, Xi J, Cao Y, Liu W, Zhang X, Honma M, Masumura K, Luan Y. | 01/5/2019 |
| 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. | 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.
Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H., Free PMC Article | 12/22/2018 |
| 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. | A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model.
Yuan X, Li Z, Baines AC, Gavriilaki E, Ye Z, Wen Z, Braunstein EM, Biesecker LG, Cheng L, Dong X, Brodsky RA., Free PMC Article | 09/9/2017 |
| 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 | Evaluation of a single-dose PIGRET assay for acetaminophen in rats compared with the RBC Pig-a assay.
Suzuki Y, Goto K, Nakayama Y, Saratani M, Takata T, Okamoto T, Okazaki S. | 06/3/2017 |
| A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. | A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
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. | 10/29/2016 |
| This case reports on a new missense PIGA germline mutation in a Chinese male infant presenting with developmental arrest and multisystemic disorders. | The genotypic and phenotypic spectrum of PIGA deficiency.
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., Free PMC Article | 01/23/2016 |
| 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. | A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM., Free PMC Article | 04/18/2015 |
| 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. | Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
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. | 10/11/2014 |
| 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. | PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
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. | 06/21/2014 |
| The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells. | The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells.
Pu JJ, Hu R, Mukhina GL, Carraway HE, McDevitt MA, Brodsky RA., Free PMC Article | 12/22/2012 |
| An X chromosome exome next-generation sequencing screen identified a single nonsense PIGA mutation. | The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG., Free PMC Article | 06/23/2012 |