Edward J. Benz headshot

Edward Benz Jr., M.D.

President and CEO Emeritus, Dana-Farber Cancer Institute
Richard and Susan Smith Distinguished Professor of Medicine, Professor of Pediatrics, Professor of Genetics, Harvard Medical School
617-632-4266
Researcher Information

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.

Edward J. Benz, Jr, MD.
Authors: Authors: Benz EJ.
J Investig Med
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A nonerythroid isoform of protein 4.1R interacts with components of the contractile apparatus in skeletal myofibers.
Authors: Authors: Kontrogianni-Konstantopoulos A, Huang SC, Benz EJ.
Mol Biol Cell
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Characterization of the interaction between protein 4.1R and ZO-2. A possible link between the tight junction and the actin cytoskeleton.
Authors: Authors: Mattagajasingh SN, Huang SC, Hartenstein JS, Benz EJ.
J Biol Chem
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Clonal variation, autoimmunity, and neoplasia: an ecology lesson from paroxysmal nocturnal hemoglobinuria.
Authors: Authors: Benz EJ.
Ann Intern Med
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A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein.
Authors: Authors: Mattagajasingh SN, Huang SC, Hartenstein JS, Snyder M, Marchesi VT, Benz EJ.
J Cell Biol
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Increasing academic internal medicine's investment in female faculty.
Authors: Authors: Benz EJ, Clayton CP, Costa ST.
Am J Med
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The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
Authors: Authors: Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, Benz EJ, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Hoover KB, et al.
Trends Biochem Sci
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Organization of the human protein 4.1 genomic locus: new insights into the tissue-specific alternative splicing of the pre-mRNA.
Authors: Authors: Baklouti F, Huang SC, Vulliamy TJ, Delaunay J, Benz EJ.
Genomics
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Role of tissue specific alternative pre-mRNA splicing in the differentiation of the erythrocyte membrane.
Authors: Authors: Benz EJ, Huang SC.
Trans Am Clin Climatol Assoc
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Asynchronous regulation of splicing events within protein 4.1 pre-mRNA during erythroid differentiation.
Authors: Authors: Baklouti F, Huang SC, Tang TK, Delaunay J, Marchesi VT, Benz EJ.
Blood
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