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Items: 1 to 20 of 28

1.
PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
Elena Meuser, Kyle Chang, Angharad Walters, Joanna J. Hurley, Hannah D. West, Iain Perry, Matthew Mort, Laura Reyes-Uribe, Rebekah Truscott, Nicholas Jones, Rachel Lawrence, Gareth Jenkins, Peter Giles, Sunil Dolwani, Bilal Al-Sarireh, Neil Hawkes, Emma Short, Geraint T. Williams, Melissa W. Taggart, Kim Luetchford, Patrick M. Lynch, Diantha Terlouw, Maartje Nielsen, Sarah-Jane Walton, Andrew Latchford, Susan K. Clark, Julian R. Sampson, Eduardo Vilar, Laura E. Thomas
Mol Cancer Res. 2024 Jun 4; 22(6): 515–523. Published online 2024 Mar 28. doi: 10.1158/1541-7786.MCR-23-0810
PMCID:
PMC11148540
AbstractArticlePDF–1.8M
2.
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
3.
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
ArticlePDF–644K
4.
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
ArticlePDF–613K
5.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
6.
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
AbstractArticlePDF–420K
7.
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
AbstractArticlePDF–2.0M
8.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
9.
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
AbstractArticlePDF–9.7M
10.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
11.
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
AbstractArticlePDF–4.0M
12.
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
AbstractArticlePDF–1.7M
13.
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
AbstractArticlePDF–1.2M
14.
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
AbstractArticlePDF–637K
15.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
16.
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
AbstractArticlePDF–1.1M
17.
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
AbstractArticlePDF–4.8M
18.
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
AbstractArticlePDF–1.4M
19.
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
AbstractArticlePDF–854K
20.
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
AbstractArticle

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