Edward J. Benz headshot

Edward Benz, Jr., M.D.

Richard and Susan Smith Distinguished Professor of Medicine, Dana-Farber Cancer Institute
Professor of Genetics, Harvard Medical School
Professor of Pediatrics, Dana-Farber Cancer Institute

In erythrocytes, Protein 4.1R is essential for membrane integrity. Deficiencies cause congenital hemolytic anemia. We have shown that there are many isoforms of P4.1R in other tissues. These participate in the mitotic apparatus, costameres, tight junctions, and adherens junctions. We are studying the structure function relationships of these isoforms. We also study the regulated pre-mRNA splicing events that govern their tissue and differentiation stage expression. We have identified a novel splicing factor induced during erythropoiesis that is critical to regulated P4.1R splicing and have characterized the mechanism by which it alters splicing.

RBFOX2 promotes protein 4.1R exon 16 selection via U1 snRNP recruitment.
Authors: Authors: Huang SC, Ou AC, Park J, Yu F, Yu B, Lee A, Yang G, Zhou A, Benz EJ.
Mol Cell Biol
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Role of RBM25/LUC7L3 in abnormal cardiac sodium channel splicing regulation in human heart failure.
Authors: Authors: Gao G, Xie A, Huang SC, Zhou A, Zhang J, Herman AM, Ghassemzadeh S, Jeong EM, Kasturirangan S, Raicu M, Sobieski MA, Bhat G, Tatooles A, Benz EJ, Kamp TJ, Dudley SC.
Circulation
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Case records of the Massachusetts General Hospital. Case 25-2011. A 62-year-old woman with anemia and paraspinal masses.
Authors: Authors: Benz EJ, Wu CC, Sohani AR.
N Engl J Med
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Newborn screening for a-thalassemia--keeping up with globalization.
Authors: Authors: Benz EJ.
N Engl J Med
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American Journal of Blood Research: Editorial Board (2011) e-Century Publishing Corporation.
Authors: Authors: Kwak LW, Goldenberg DM, Benz EJ, Yi Q, Müschen M, Wang D.
Am J Blood Res
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Launching of american journal of blood research.
Authors: Authors: Kwak LW, Goldenberg DM, Benz EJ, Yi Q, Muschen M, Wang D.
Am J Blood Res
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Learning about genomics and disease from the anucleate human red blood cell.
Authors: Authors: Benz EJ.
J Clin Invest
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Ensuring quality cancer care through the oncology workforce.
Authors: Authors: Levit L, Smith AP, Benz EJ, Ferrell B.
J Oncol Pract
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Coupled transcription-splicing regulation of mutually exclusive splicing events at the 5' exons of protein 4.1R gene.
Authors: Authors: Huang SC, Cho A, Norton S, Liu ES, Park J, Zhou A, Munagala ID, Ou AC, Yang G, Wickrema A, Tang TK, Benz EJ.
Blood
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Inhibition of protein 4.1 R and NuMA interaction by mutagenization of their binding-sites abrogates nuclear localization of 4.1 R.
Authors: Authors: Mattagajasingh SN, Huang SC, Benz EJ.
Clin Transl Sci
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