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Select item 47581901.

Frequent Mutations in SH2D1A (XLP) in Males Presenting With High-Grade Mature B-Cell Neoplasms

J.T. Sandlund, S.A. Shurtleff, M. Onciu, E. Horwitz, W. Leung, V. Howard, R. Rencher, M.E. Conley

Pediatr Blood Cancer. Author manuscript; available in PMC 2016 Feb 18.

Published in final edited form as: Pediatr Blood Cancer. 2013 Sep; 60(9): E85–E87. Published online 2013 Apr 15. doi: 10.1002/pbc.24525

PMCID:: PMC4758190

Abstract Article PDF–69K

Select item 27444772.

PHENOTYPIC DIFFERENCES BETWEEN MICE DEFICIENT IN XIAP AND SAP, TWO FACTORS TARGETED IN X-LINKED LYMPHOPROLIFERATIVE SYNDROME (XLP)

Julie M. Rumble, Karolyn A. Oetjen, Paul L. Stein, Pamela L. Schwartzberg, Bethany B. Moore, Colin S. Duckett

Cell Immunol. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Cell Immunol. 2009; 259(1): 82–89. Published online 2009 Jun 13. doi: 10.1016/j.cellimm.2009.05.017

PMCID:: PMC2744477

Abstract Article PDF–2.7M

Select item 68509793.

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria

Hetanshi Naik, Jessica R. Overbey, Robert J. Desnick, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Ashwani Singal, Manisha Balwani

JIMD Rep. 2019 Nov; 50(1): 9–19. Published online 2019 Sep 14. doi: 10.1002/jmd2.12052

PMCID:: PMC6850979

Abstract Article PDF–1.2M

Select item 91680364.

Genome Editing With TALEN, CRISPR-Cas9 and CRISPR-Cas12a in Combination With AAV6 Homology Donor Restores T Cell Function for XLP

Benjamin C. Houghton, Neelam Panchal, Simone A. Haas, Kay O. Chmielewski, Markus Hildenbeutel, Thomas Whittaker, Claudio Mussolino, Toni Cathomen, Adrian J Thrasher, Claire Booth

Front Genome Ed. 2022; 4: 828489. Published online 2022 May 23. doi: 10.3389/fgeed.2022.828489

PMCID:: PMC9168036

Abstract Article PDF–1.8M

Select item 25564305.

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, Bernard Grandchamp, Carole Beaumont, Michael N. Badminton, George H. Elder, S. Alexander Holme, Alexander V. Anstey, Michelle Parker, Anne V. Corrigall, Peter N. Meissner, Richard J. Hift, Joanne T. Marsden, Yun Ma, Giorgina Mieli-Vergani, Jean-Charles Deybach, Hervé Puy

Am J Hum Genet. 2008 Sep 12; 83(3): 408–414. Published online 2008 Sep 5. doi: 10.1016/j.ajhg.2008.08.003

PMCID:: PMC2556430

Abstract Article PDF–617K

Select item 87752486.

Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria

Elena Di Pierro, Francesca Granata, Michele De Canio, Mariateresa Rossi, Andrea Ricci, Matteo Marcacci, Giacomo De Luca, Luisa Sarno, Luca Barbieri, Paolo Ventura, Giovanna Graziadei

Diagnostics (Basel) 2022 Jan; 12(1): 151. Published online 2022 Jan 8. doi: 10.3390/diagnostics12010151

PMCID:: PMC8775248

Abstract Article PDF–1.2M

Select item 71866257.

X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2

Tao Wang, Yongwei Wang, Qi Dong, Chenchen Xu, Xiping Zhou, Yunshu Ouyang, Yaping Liu, Jonathan J. Lee, Nina Hu, Kevin Wang, Tanja Prunk Zdravkovic, Jun Shen, Guangjun Nie, Christine G. Lian, Yuehua Liu

Ann Transl Med. 2020 Mar; 8(6): 344. doi: 10.21037/atm.2020.02.80

PMCID:: PMC7186625

Abstract Article PDF–1.1M

Select item 66566248.

Erythropoietic Protoporphyria and X-Linked Protoporphyria: Pathophysiology, Genetics, Clinical Manifestations, and Management

Manisha Balwani

Mol Genet Metab. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: Mol Genet Metab. 2019 Nov; 128(3): 298–303. Published online 2019 Jan 24. doi: 10.1016/j.ymgme.2019.01.020

PMCID:: PMC6656624

Abstract Article PDF–759K

Select item 96724259.

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

Manisha Balwani, Hetanshi Naik, Jessica R. Overbey, Herbert L. Bonkovsky, D. Montgomery Bissell, Bruce Wang, John D. Phillips, Robert J. Desnick, Karl E. Anderson

Mol Genet Metab Rep. 2022 Dec; 33: 100939. Published online 2022 Nov 14. doi: 10.1016/j.ymgmr.2022.100939

PMCID:: PMC9672425

Abstract Article PDF–448K

Select item 451293310.

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria

V. Brancaleoni, M. Balwani, F. Granata, G. Graziadei, P. Missineo, V. Fiorentino, S. Fustinoni, M.D. Cappellini, H. Naik, R.J. Desnick, E. Di Pierro

Clin Genet. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Clin Genet. 2016 Jan; 89(1): 20–26. Published online 2015 Feb 17. doi: 10.1111/cge.12562

PMCID:: PMC4512933

Abstract Article PDF–328K

Select item 659976011.

Identification of a novel DGKα inhibitor for XLP-1 therapy by virtual screening

Suresh Velnati, Elisa Ruffo, Alberto Massarotti, Maria Talmon, Konduru Sai Sandeep Varma, Alessandro Gesu, Luigia Grazia Fresu, Andrew L. Snow, Alessandra Bertoni, Daniela Capello, Gian Cesare Tron, Andrea Graziani, Gianluca Baldanzi

Eur J Med Chem. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Eur J Med Chem. 2019 Feb 15; 164: 378–390. Published online 2018 Dec 26. doi: 10.1016/j.ejmech.2018.12.061

PMCID:: PMC6599760

Abstract Article PDF–1.7M

Select item 181049312.

Factors involved in the generation of memory CD8⁺ T cells in patients with X-linked lymphoproliferative disease (XLP)

L Belmonte, C Parodi, P Baré, A Malbrán, B Ruibal-Ares, María M de E de Bracco

Clin Exp Immunol. 2007 Mar; 147(3): 456–464. doi: 10.1111/j.1365-2249.2006.03300.x

PMCID:: PMC1810493

Abstract Article PDF–535K

Select item 457333513.

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt Conformational Equilibrium and Enhance Product Release

Erica J. Fratz, Jerome Clayton, Gregory A. Hunter, Sarah Ducamp, Leonid Breydo, Vladimir N. Uversky, Jean-Charles Deybach, Laurent Gouya, Hervé Puy, Gloria C. Ferreira

Biochemistry. Author manuscript; available in PMC 2015 Sep 17.

Published in final edited form as: Biochemistry. 2015 Sep 15; 54(36): 5617–5631. Published online 2015 Sep 2. doi: 10.1021/acs.biochem.5b00407

PMCID:: PMC4573335

Abstract Article PDF–1.5M

Select item 491850514.

Inhibition of diacylglycerol kinase alpha restores restimulation-induced cell death and reduces immunopathology in XLP-1

Elisa Ruffo, Valeria Malacarne, Sasha E. Larsen, Rupali Das, Laura Patrussi, Christoph Wülfing, Christoph Biskup, Senta M. Kapnick, Katherine Verbist, Paige Tedrick, Pamela L. Schwartzberg, Cosima T. Baldari, Ignacio Rubio, Kim E. Nichols, Andrew L. Snow, Gianluca Baldanzi, Andrea Graziani

Sci Transl Med. Author manuscript; available in PMC 2016 Jul 13.

Published in final edited form as: Sci Transl Med. 2016 Jan 13; 8(321): 321ra7. doi: 10.1126/scitranslmed.aad1565

PMCID:: PMC4918505

Abstract Article PDF–2.3M

Select item 364609415.

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Manisha Balwani, Dana Doheny, David F Bishop, Irina Nazarenko, Makiko Yasuda, Harry A Dailey, Karl E Anderson, D Montgomery Bissell, Joseph Bloomer, Herbert L Bonkovsky, John D Phillips, Lawrence Liu, Robert J Desnick

Mol Med. 2013; 19(1): 26–35. Published online 2013 Jan 28. doi: 10.2119/molmed.2012.00340

PMCID:: PMC3646094

Abstract Article PDF–4.6M

Select item 359293116.

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

David F Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J Desnick

Mol Med. 2013; 19(1): 18–25. Published online 2013 Jan 16. doi: 10.2119/molmed.2013.00003

PMCID:: PMC3592931

Abstract Article PDF–4.0M

Select item 1064681117.

How I treat erythropoietic protoporphyria and X-linked protoporphyria

Rebecca Karp Leaf, Amy K. Dickey

Blood. 2023 Jun 15; 141(24): 2921–2931. Published online 2023 Mar 15. doi: 10.1182/blood.2022018688

PMCID:: PMC10646811

Abstract Article

Select item 1065563718.

Regulation of NKT cell development by SAP, the protein defective in XLP

Kim E Nichols, Jamie Hom, Shun-You Gong, Arupa Ganguly, Cindy S Ma, Jennifer L Cannons, Stuart G Tangye, Pamela L Schwartzberg, Gary A Koretzky, Paul L Stein

Nat Med. Author manuscript; available in PMC 2023 Nov 17.

Published in final edited form as: Nat Med. 2005 Mar; 11(3): 340–345. Published online 2005 Feb 13. doi: 10.1038/nm1189

PMCID:: PMC10655637

Abstract Article PDF–1.1M

Select item 571040319.

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

Manisha Balwani, Hetanshi Naik, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Jessica R. Overbey, Bruce Wang, Ashwani K. Singal, Lawrence U. Liu, Robert J. Desnick

JAMA Dermatol. 2017 Aug; 153(8): 789–796. Prepublished online 2017 Jun 14. Published online 2017 Aug 9. doi: 10.1001/jamadermatol.2017.1557