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.
Blood Spotlight Review on Gene Therapy for Sickle Cell Disease.
Thalassemia.
Remembering the Contributions of Professor David J. Weatherall.
Introduction to the Thalassemia Syndromes: Molecular Medicine's Index Case.
Multifunctional protein 4.1R regulates the asymmetric segregation of Numb during terminal erythroid maturation.
Authors: Authors: Huang SC, Vu LV, Yu FH, Nguyen DT, Benz EJ.
J Biol Chem
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J Biol Chem
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Progress in Cancer Research, Prevention, and Care.
Authors: Authors: Schilsky RL, Nass S, Le Beau MM, Benz EJ.
N Engl J Med
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N Engl J Med
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Value of Oncology Pharmacists in the Oncology Health Care Workforce-Reply.
The Future of Cancer Care in the United States-Overcoming Workforce Capacity Limitations.
Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia.
Authors: Authors: Huang SC, Liang JY, Vu LV, Yu FH, Ou AC, Ou JP, Zhang HS, Burnett KM, Benz EJ.
J Biol Chem
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J Biol Chem
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Accelerating the Science of SCD Therapies-Is a Cure Possible?