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Select item 106529391.

Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction

Lena Muckenthaler, Oriana Marques, Silvia Colucci, Joachim Kunz, Piotr Fabrowski, Thomas Bast, Sandro Altamura, Britta Höchsmann, Hubert Schrezenmeier, Monika Langlotz, Paulina Richter-Pechanska, Tobias Rausch, Nicole Hofmeister-Mielke, Nikolas Gunkel, Matthias W. Hentze, Andreas E. Kulozik, Martina U. Muckenthaler

Blood. 2022 Mar 3; 139(9): 1418–1422. Published online 2021 Dec 9. doi: 10.1182/blood.2021013519

PMCID:: PMC10652939

Article

Select item 86940932.

Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria

Michael J. Clemente, Bartlomiej Przychodzen, Cassandra M. Hirsch, Yasunobu Nagata, Taha Bat, Marcin W. Wlodarski, Tomas Radivoyevitch, Hideki Makishima, Jaroslaw P. Maciejewski

Leukemia. Author manuscript; available in PMC 2021 Dec 22.

Published in final edited form as: Leukemia. 2018 Nov; 32(11): 2507–2511. Published online 2018 Apr 25. doi: 10.1038/s41375-018-0138-5

PMCID:: PMC8694093

Article PDF–644K

Select item 82995403.

Implication of PIGA genotype on erythrocytes phenotype in Paroxysmal Nocturnal Hemoglobinuria

Carmelo Gurnari, Simona Pagliuca, Bhumika J. Patel, Hassan Awada, Sunisa Kongkiatkamon, Laila Terkawi, Misam Zawit, Seth Corey, Alan E. Lichtin, Hetty E. Carraway, Adam Wahida, Valeria Visconte, Jaroslaw P. Maciejewski

Leukemia. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Leukemia. 2021 Aug; 35(8): 2431–2434. Published online 2021 Jan 22. doi: 10.1038/s41375-020-01113-0

PMCID:: PMC8299540

Article PDF–613K

Select item 65029534.

Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of PIGA Mutations and T-cell Receptor Clonality

Joonhong Park, Myungshin Kim, Yonggoo Kim, Kyungja Han, Nack-Gyun Chung, Bin Cho, Sung-Eun Lee, Jong Wook Lee

Ann Lab Med. 2019 Sep; 39(5): 438–446. Published online 2019 Apr 26. doi: 10.3343/alm.2019.39.5.438

PMCID:: PMC6502953

Abstract Article PDF–420K

Select item 61606995.

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

Junli Yang, Qiong Wang, Qingcui Zhuo, Huiling Tian, Wen Li, Fang Luo, Jinghui Zhang, Dan Bi, Jing Peng, Dong Zhou, Huawei Xin

Mol Genet Genomic Med. 2018 Sep; 6(5): 739–748. Published online 2018 Jul 4. doi: 10.1002/mgg3.428

PMCID:: PMC6160699

Abstract Article PDF–2.0M

Select item 54048676.

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model

Xuan Yuan, Zhe Li, Andrea C. Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M. Braunstein, Leslie G. Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A. Brodsky

PLoS One. 2017; 12(4): e0174074. Published online 2017 Apr 25. doi: 10.1371/journal.pone.0174074

PMCID:: PMC5404867

Abstract Article PDF–9.7M

Select item 43495227.

A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload

Kathryn J. Swoboda, Rebecca L. Margraf, John C. Carey, Holly Zhou, Tara M. Newcomb, Emily Coonrod, Jacob Durtschi, Kalyan Mallempati, Attila Kumanovics, Ben E. Katz, Karl V. Voelkerding, John M. Opitz

Am J Med Genet A. Author manuscript; available in PMC 2015 Mar 4.

Published in final edited form as: Am J Med Genet A. 2014 Jan; 0(1): 17–28. Published online 2013 Nov 20. doi: 10.1002/ajmg.a.36189

PMCID:: PMC4349522

Abstract Article PDF–4.0M

Select item 43483728.

The genotypic and phenotypic spectrum of PIGA deficiency

Maja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr, Roberta Biancheri, Tracey Oh, Bryan Sayson, Mirafe Lafek, Colin J Ross, Wendy P Robinson, Wyeth W Wasserman, Andrea Rossi, Clara DM van Karnebeek

Orphanet J Rare Dis. 2015; 10: 23. Published online 2015 Feb 27. doi: 10.1186/s13023-015-0243-8

PMCID:: PMC4348372

Abstract Article PDF–1.7M

Select item 34098219.

The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells

Jeffrey J. Pu, Rong Hu, Galina L. Mukhina, Hetty E. Carraway, Michael A. McDevitt, Robert A. Brodsky

Haematologica. 2012 Aug; 97(8): 1225–1233. doi: 10.3324/haematol.2011.048215

PMCID:: PMC3409821

Abstract Article PDF–1.2M

Select item 327665510.

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Jennifer J. Johnston, Andrea L. Gropman, Julie C. Sapp, Jamie K. Teer, Jodie M. Martin, Cyndi F. Liu, Xuan Yuan, Zhaohui Ye, Linzhao Cheng, Robert A. Brodsky, Leslie G. Biesecker

Am J Hum Genet. 2012 Feb 10; 90(2): 295–300. doi: 10.1016/j.ajhg.2011.11.031

PMCID:: PMC3276655

Abstract Article PDF–637K

Select item 283486611.

A quantitative analysis of genomic instability in lymphoid and plasma cell neoplasms based on the PIG-A gene

David J. Araten, Jose A. Martinez-Climent, Mary Ann Perle, Eliana Holm, Leah Zamechek, Kimberly DiTata, Katie J. Sanders

Mutat Res. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Mutat Res. 2010 Apr 1; 686(1-2): 1–8. Published online 2010 Jan 8. doi: 10.1016/j.mrfmmm.2009.11.012

PMCID:: PMC2834866

Abstract Article PDF–1.1M

Select item 272013212.

Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells

Jizhong Zou, Morgan L. Maeder, Prashant Mali, Shondra M Pruett-Miller, Stacey Thibodeau-Beganny, Bin-Kuan Chou, Guibin Chen, Zhaohui Ye, In-Hyun Park, George Q. Daley, Matthew H. Porteus, J. Keith Joung, Linzhao Cheng

Cell Stem Cell. Author manuscript; available in PMC 2010 Jul 2.

Published in final edited form as: Cell Stem Cell. 2009 Jul 2; 5(1): 97–110. Published online 2009 Jun 18. doi: 10.1016/j.stem.2009.05.023

PMCID:: PMC2720132

Abstract Article PDF–4.8M

Select item 262876113.

Glycosylphosphatidylinositol-anchored Protein Deficiency Confers Resistance to Apoptosis in PNH

William J. Savage, James P. Barber, Galina L. Mukhina, Rong Hu, Guibin Chen, William Matsui, Chris Thoburn, Allan D. Hess, Linzhao Cheng, Richard J. Jones, Robert A. Brodsky

Exp Hematol. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Exp Hematol. 2009 Jan; 37(1): 42–51. Published online 2008 Nov 14. doi: 10.1016/j.exphem.2008.09.002

PMCID:: PMC2628761

Abstract Article PDF–854K

Select item 189508414.

PIG-A mutations in normal hematopoiesis

Rong Hu, Galina L. Mukhina, Steven Piantadosi, Jamie P. Barber, Richard J. Jones, Robert A. Brodsky

Blood. 2005 May 15; 105(10): 3848–3854. Prepublished online 2005 Feb 1. doi: 10.1182/blood-2004-04-1472

PMCID:: PMC1895084

Abstract Article

Select item 176967015.

Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria

J H Yoon, H I Cho, S S Park, Y H Chang, B K Kim

J Clin Pathol. 2002 Jun; 55(6): 410–413. doi: 10.1136/jcp.55.6.410

PMCID:: PMC1769670

Abstract Article PDF–124K

Select item 39478416.

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

M Bessler, P J Mason, P Hillmen, T Miyata, N Yamada, J Takeda, L Luzzatto, T Kinoshita

EMBO J. 1994 Jan 1; 13(1): 110–117. doi: 10.1002/j.1460-2075.1994.tb06240.x

PMCID:: PMC394784

Summary Page Browse PDF–1.8M

Select item 117043717.

The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

R Watanabe, N Inoue, B Westfall, C H Taron, P Orlean, J Takeda, T Kinoshita

EMBO J. 1998 Feb 16; 17(4): 877–885. doi: 10.1093/emboj/17.4.877

PMCID:: PMC1170437

Summary PDF–660K

Select item 30204018.

Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2

Reika Watanabe, Yoshiko Murakami, Mina D. Marmor, Norimitsu Inoue, Yusuke Maeda, Jun Hino, Kenji Kangawa, Michael Julius, Taroh Kinoshita

EMBO J. 2000 Aug 15; 19(16): 4402–4411. doi: 10.1093/emboj/19.16.4402

PMCID:: PMC302040

Abstract Article PDF–477K

Select item 126642219.

The Initial Enzyme for Glycosylphosphatidylinositol Biosynthesis Requires PIG-Y, a Seventh Component

Yoshiko Murakami, Uamporn Siripanyaphinyo, Yeongjin Hong, Yuko Tashima, Yusuke Maeda, Taroh Kinoshita

Mol Biol Cell. 2005 Nov; 16(11): 5236–5246. doi: 10.1091/mbc.E05-08-0743

PMCID:: PMC1266422

Abstract Article PDF–710K

Select item 268304720.

Ubiquitin-mediated proteolysis of HuR by heat shock

Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe

EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67

PMCID:: PMC2683047

Abstract Article PDF–1.4M

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PMC Links for Gene (Select 5277) (27)
PMC
ATPase H+ transporting V0 subunit cb [Danio rerio]
ATPase H+ transporting V0 subunit cb [Danio rerio]
gi|60678280|ref|NP_991117.1|

Protein
TPA: Bifidobacterium dentium Bd1 tmRNA gene Bifid_denti_27678
TPA: Bifidobacterium dentium Bd1 tmRNA gene Bifid_denti_27678
gi|559138911|tpe|HG522408.1|

Nucleotide
crp3 C-reactive protein 3 [Danio rerio]
crp3 C-reactive protein 3 [Danio rerio]
Gene ID:100141350

Gene
slc12a7b solute carrier family 12 member 7b [Danio rerio]
slc12a7b solute carrier family 12 member 7b [Danio rerio]
Gene ID:567667

Gene

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