Thalassemia. Hematol Oncol Clin North Am. 2023 04; 37(2):xiii-xv.
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Introduction to the Thalassemia Syndromes: Molecular Medicine's Index Case. Hematol Oncol Clin North Am. 2023 04; 37(2):245-259.
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Remembering the Contributions of Professor David J. Weatherall. Hematol Oncol Clin North Am. 2023 Apr; 37(2):xvii-xxi.
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Multifunctional protein 4.1R regulates the asymmetric segregation of Numb during terminal erythroid maturation. J Biol Chem. 2021 09; 297(3):101051.
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Progress in Cancer Research, Prevention, and Care. N Engl J Med. 2020 Sep 03; 383(10):897-900.
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Value of Oncology Pharmacists in the Oncology Health Care Workforce-Reply. JAMA Oncol. 2020 07 01; 6(7):1121.
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The Future of Cancer Care in the United States-Overcoming Workforce Capacity Limitations. JAMA Oncol. 2020 03 01; 6(3):327-328.
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Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia. J Biol Chem. 2020 01 03; 295(1):191-211.
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Accelerating the Science of SCD Therapies-Is a Cure Possible? JAMA. 2019 Sep 10; 322(10):921-922.
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Breakthrough Therapy Designation for New Drugs. JAMA. 2018 11 20; 320(19):2042.
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Advancing the Science of Healthcare Service Delivery: The NHLBI Corporate Healthcare Leaders' Panel. Glob Heart. 2018 12; 13(4):339-345.
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Protein 4.1R Exon 16 3' Splice Site Activation Requires Coordination among TIA1, Pcbp1, and RBM39 during Terminal Erythropoiesis. Mol Cell Biol. 2017 05 01; 37(9).
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The Jeremiah Metzger Lecture Cancer in the Twenty-First Century: An Inside View from an Outsider. Trans Am Clin Climatol Assoc. 2017; 128:275-297.
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Protein 4.1R Influences Myogenin Protein Stability and Skeletal Muscle Differentiation. J Biol Chem. 2016 Dec 02; 291(49):25591-25607.
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Value, Access, and Cost of Cancer Care Delivery at Academic Cancer Centers. J Natl Compr Canc Netw. 2016 07; 14(7):837-47.
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BERNARD GREGOIRE FORGET, MD: 1939 - 2015. Trans Am Clin Climatol Assoc. 2016; 127:lxxxviii-xci.
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In Support of a Patient-Driven Initiative and Petition to Lower the High Price of Cancer Drugs. Mayo Clin Proc. 2015 Aug; 90(8):996-1000.
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A tribute to Emil Frei III. J Clin Invest. 2013 Aug 1; 123(8):3188-9.
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Presidential address: doing our part to ensure the future of academic medicine. Trans Am Clin Climatol Assoc. 2013; 124:1-13.
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RBFOX2 promotes protein 4.1R exon 16 selection via U1 snRNP recruitment. Mol Cell Biol. 2012 Jan; 32(2):513-26.
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Role of RBM25/LUC7L3 in abnormal cardiac sodium channel splicing regulation in human heart failure. Circulation. 2011 Sep 06; 124(10):1124-31.
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Case records of the Massachusetts General Hospital. Case 25-2011. A 62-year-old woman with anemia and paraspinal masses. N Engl J Med. 2011 Aug 18; 365(7):648-58.
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American Journal of Blood Research: Editorial Board (2011) e-Century Publishing Corporation. Am J Blood Res. 2011; 1(1):106-9.
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Launching of american journal of blood research. Am J Blood Res. 2011; 1(1):i.
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Newborn screening for a-thalassemia--keeping up with globalization. N Engl J Med. 2011 Feb 24; 364(8):770-1.
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Learning about genomics and disease from the anucleate human red blood cell. J Clin Invest. 2010 Dec; 120(12):4204-6.
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Ensuring quality cancer care through the oncology workforce. J Oncol Pract. 2010 Jan; 6(1):7-11.
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Coupled transcription-splicing regulation of mutually exclusive splicing events at the 5' exons of protein 4.1R gene. Blood. 2009 Nov 05; 114(19):4233-42.
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Commentary: troublesome words, linguistic precision, and medical oncology. Oncologist. 2009 Apr; 14(4):445-7.
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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. Clin Transl Sci. 2009 Apr; 2(2):102-11.
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Novel splicing factor RBM25 modulates Bcl-x pre-mRNA 5' splice site selection. Mol Cell Biol. 2008 Oct; 28(19):5924-36.
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Paroxysmal nocturnal hemoglobinuria (PNH): an historical perspective. Hematology Am Soc Hematol Educ Program. 2008; 92.
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Targeting the cell death-survival equation. Clin Cancer Res. 2007 Dec 15; 13(24):7250-3.
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Development of an integrated approach to cancer disparities: one cancer center's experience. Cancer Epidemiol Biomarkers Prev. 2007 Nov; 16(11):2186-92.
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Regulated Fox-2 isoform expression mediates protein 4.1R splicing during erythroid differentiation. Blood. 2008 Jan 01; 111(1):392-401.
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2006 Association of American Physicians George M. Kober Medal. Introduction of David G. Nathan, MD. J Clin Invest. 2007 Apr; 117(4):1107-11.
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Partnerships with patients. Trustee. 2006 Oct; 59(9):40, 56.
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Restructuring the academic department of internal medicine. Am J Med. 2005 Dec; 118(12):1430-5.
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Mitotic regulation of protein 4.1R involves phosphorylation by cdc2 kinase. Mol Biol Cell. 2005 Jan; 16(1):117-27.
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An erythroid differentiation-specific splicing switch in protein 4.1R mediated by the interaction of SF2/ASF with an exonic splicing enhancer. Blood. 2005 Mar 01; 105(5):2146-53.
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Genotypes and phenotypes--another lesson from the hemoglobinopathies. N Engl J Med. 2004 Oct 07; 351(15):1490-2.
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Protein 4.1R, a microtubule-associated protein involved in microtubule aster assembly in mammalian mitotic extract. J Biol Chem. 2004 Aug 13; 279(33):34595-602.
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A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells. Blood. 2002 Oct 01; 100(7):2629-36.
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Multiple cis elements regulate an alternative splicing event at 4.1R pre-mRNA during erythroid differentiation. Blood. 2001 Dec 15; 98(13):3809-16.
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Comprehensive cancer centres and the war on cancer. Nat Rev Cancer. 2001 Dec; 1(3):240-5.
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Reassignment of the EPB4.1 gene to 1p36 and assessment of its involvement in neuroblastomas. Eur J Clin Invest. 2001 Oct; 31(10):907-14.
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The prototypical 4.1R-10-kDa domain and the 4.1g-10-kDa paralog mediate fodrin-actin complex formation. J Biol Chem. 2001 Jun 08; 276(23):20679-87.
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Translational regulation of Na-K-ATPase subunit mRNAs by glucocorticoids. Am J Physiol Renal Physiol. 2000 Dec; 279(6):F1132-8.
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A nonerythroid isoform of protein 4.1R interacts with components of the contractile apparatus in skeletal myofibers. Mol Biol Cell. 2000 Nov; 11(11):3805-17.
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Edward J. Benz, Jr, MD. J Investig Med. 2000 Nov; 48(6):381-4.
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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. J Biol Chem. 2000 Sep 29; 275(39):30573-85.
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Clonal variation, autoimmunity, and neoplasia: an ecology lesson from paroxysmal nocturnal hemoglobinuria. Ann Intern Med. 1999 Sep 21; 131(6):467-8.
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A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein. J Cell Biol. 1999 Apr 05; 145(1):29-43.
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Increasing academic internal medicine's investment in female faculty. Am J Med. 1998 Dec; 105(6):459-63.
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The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci. 1998 Aug; 23(8):281-2.
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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. Genomics. 1997 Feb 01; 39(3):289-302.
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Role of tissue specific alternative pre-mRNA splicing in the differentiation of the erythrocyte membrane. Trans Am Clin Climatol Assoc. 1997; 108:78-95.
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Asynchronous regulation of splicing events within protein 4.1 pre-mRNA during erythroid differentiation. Blood. 1996 May 01; 87(9):3934-41.
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Na, K-ATPase isoform gene expression in normal and hypertrophied dog heart. Basic Res Cardiol. 1996 May-Jun; 91(3):256-66.
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The thalassemia syndromes: lessons from molecular medicines index case. Trans Am Clin Climatol Assoc. 1996; 107:20-36; discussion 35-6.
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Gene therapy in hematology. Rev Invest Clin. 1994 Apr; Suppl:143-6.
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Molecular cloning and functional expression of the bumetanide-sensitive Na-K-Cl cotransporter. Proc Natl Acad Sci U S A. 1994 Mar 15; 91(6):2201-5.
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Tissue-specific alternative splicing of protein 4.1 inserts an exon necessary for formation of the ternary complex with erythrocyte spectrin and F-actin. Blood. 1993 Oct 15; 82(8):2558-63.
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Posttranscriptional regulation of colony-stimulating factor-1 (CSF-1) and CSF-1 receptor gene expression during inhibition of phorbol-ester-induced monocytic differentiation by dexamethasone and cyclosporin A: potential involvement of a destabilizing protein. Exp Hematol. 1993 Sep; 21(10):1328-34.
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Expression of alpha isoforms of the Na,K-ATPase in human heart. Biochim Biophys Acta. 1993 Jul 04; 1149(2):189-94.
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Genomic structure of the locus encoding protein 4.1. Structural basis for complex combinational patterns of tissue-specific alternative RNA splicing. J Biol Chem. 1993 Feb 15; 268(5):3758-66.
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Prevalent skipping of an individual exon accounts for shortened protein 4.1 Presles. Blood. 1992 Dec 01; 80(11):2925-30.
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Differential translation of the Na,K-ATPase subunit mRNAs. J Biol Chem. 1992 Nov 05; 267(31):22435-9.
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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. J Clin Invest. 1992 Nov; 90(5):1713-7.
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Presidential address to the American Society for Clinical Investigation, Baltimore, Maryland, 2-6 May 1992. J Clin Invest. 1992 Oct; 90(4):1177-9.
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Changes in Na,K-ATPase gene expression during granulocytic differentiation of HL60 cells. Blood. 1992 Sep 15; 80(6):1559-64.
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Deamidation of human erythrocyte protein 4.1: possible role in aging. Blood. 1992 Jun 15; 79(12):3355-61.
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Lactoferrin gene promoter: structural integrity and nonexpression in HL60 cells. Blood. 1992 Jun 01; 79(11):2998-3006.
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The A2 isoform of rat Na+,K(+)-adenosine triphosphatase is active and exhibits high ouabain affinity when expressed in transfected fibroblasts. FEBS Lett. 1992 Jun 01; 303(2-3):147-53.
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Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc Natl Acad Sci U S A. 1992 Apr 01; 89(7):2935-9.
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The cardiac conduction system in the rat expresses the alpha 2 and alpha 3 isoforms of the Na+,K(+)-ATPase. Proc Natl Acad Sci U S A. 1992 Jan 01; 89(1):99-103.
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Differential utilization of translation initiation sites in alternatively spliced mRNAs arising from the protein 4.1 gene. Trans Assoc Am Physicians. 1992; 105:165-71.
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The stem cell mavens had a blast. Second International Symposium on the Molecular Biology of Hematopoiesis, Innsbruck, Austria, July 14-18, 1991. New Biol. 1992 Jan; 4(1):42-7.
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Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps. Blood. 1991 Oct 15; 78(8):2113-9.
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Cytoarchitectural relationships between [3H]ouabain binding and mRNA for isoforms of the sodium pump catalytic subunit in rat brain. Brain Res Mol Brain Res. 1991 May; 10(2):139-50.
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Detection of the Na(+)-K(+)-ATPase alpha 3-isoform in multinucleated macrophages. Am J Physiol. 1991 May; 260(5 Pt 2):F704-9.
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Gene expression during erythropoiesis. Int J Cell Cloning. 1991 Mar; 9(2):109-22.
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Heterogeneity of mRNA and protein products arising from the protein 4.1 gene in erythroid and nonerythroid tissues. J Cell Biol. 1990 Mar; 110(3):617-24.
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The molecular genetics of cancer. Introduction to principles of recombinant DNA technology. Cancer. 1990 Feb 01; 65(3 Suppl):731-41.
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Sequence analysis of the gamma-globin gene locus from a patient with the deletion form of hereditary persistence of fetal hemoglobin. Blood. 1990 Jan 15; 75(2):499-504.
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Metabolism of non-translatable globin mRNAs arising from premature translation termination codons. Ann N Y Acad Sci. 1990; 612:55-66.
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Amplification of the phosphorylation site-ATP-binding site cDNA fragment of the Na+,K(+)-ATPase and the Ca2(+)-ATPase of Drosophila melanogaster by polymerase chain reaction. FEBS Lett. 1989 Dec 04; 258(2):203-7.
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Expression of multiple Na+,K+-adenosine triphosphatase isoform genes in human hematopoietic cells. Behavior of the novel A3 isoform during induced maturation of HL60 cells. J Clin Invest. 1989 Jul; 84(1):347-51.
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Characterization of the calmodulin-binding site of nonerythroid alpha-spectrin. Recombinant protein and model peptide studies. J Biol Chem. 1989 Apr 05; 264(10):5826-30.
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Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. J Clin Invest. 1989 Feb; 83(2):514-9.
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Selective expression of an erythroid-specific isoform of protein 4.1. Proc Natl Acad Sci U S A. 1988 Jun; 85(11):3713-7.
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Nonsense mutations in the human beta-globin gene affect mRNA metabolism. Proc Natl Acad Sci U S A. 1988 Apr; 85(7):2056-60.
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Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics. 1988 Feb; 2(2):128-38.
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Molecular cloning and characterization of alpha-subunit isoforms of the Na,K-ATPase. Prog Clin Biol Res. 1988; 268B:119-26.
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Antenatal diagnosis of the hemoglobinopathies. Hematol Pathol. 1988; 2(4):199-220.
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Cellular factor affecting the stability of beta-globin mRNA. Gene. 1988; 62(1):65-74.
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Expression of specific isoforms of protein 4.1 in erythroid and non-erythroid tissues. Adv Exp Med Biol. 1988; 241:81-95.
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Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species. Mol Cell Biol. 1988 Jan; 8(1):1-9.
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In vitro expression of the alpha and beta subunits of the Na,K-ATPase. Prog Clin Biol Res. 1988; 268B:71-6.
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Molecular cloning of Na+,K+-ATPase alpha subunit gene using antibody probes. Methods Enzymol. 1988; 156:379-92.
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Tissue specificity, localization in brain, and cell-free translation of mRNA encoding the A3 isoform of Na+,K+-ATPase. Proc Natl Acad Sci U S A. 1988 Jan; 85(1):284-8.
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Isolation of lactoferrin cDNA from a human myeloid library and expression of mRNA during normal and leukemic myelopoiesis. Blood. 1987 Oct; 70(4):989-93.
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Equal stabilities of normal beta globin and nontranslatable beta0 -39 thalassemic transcripts in cell-free extracts. Blood. 1987 Jul; 70(1):293-300.
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Hospital cardiology, cardiac surgery program reported. Physician Exec. 1987 Mar-Apr; 13(2):28.
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Expression of genes for the alpha and beta subunits of the Na,K-ATPase in normal and drug resistant cells. Blood Cells. 1987; 13(1-2):299-307.
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Amino acid sequence of the plasma membrane ATPase of Neurospora crassa: deduction from genomic and cDNA sequences. Proc Natl Acad Sci U S A. 1986 Oct; 83(20):7693-7.
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Amplification of DNA sequences coding for the Na,K-ATPase alpha-subunit in ouabain-resistant C+ cells. Mol Cell Biol. 1986 Jul; 6(7):2476-81.
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Molecular cloning of rat brain Na,K-ATPase alpha-subunit cDNA. Proc Natl Acad Sci U S A. 1985 Sep; 82(18):6357-61.
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Metabolism of structurally abnormal mRNAs resulting from beta-thalassemia mutations. Ann N Y Acad Sci. 1985; 445:57-67.
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Analysis of gene expression during hematopoiesis: present and future applications. Crit Rev Oncol Hematol. 1985; 4(1):67-102.
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Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon. Blood. 1984 Jul; 64(1):13-22.
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An immediate hemolytic transfusion reaction due to anti-C and a delayed hemolytic transfusion reaction due to anti-Ce+e: hemoglobinemia, hemoglobinuria and transient impaired renal function. Vox Sang. 1984; 47(5):348-53.
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Molecular genetics of the sickling syndromes: evolution of new strategies for improved diagnosis. Am J Pediatr Hematol Oncol. 1984; 6(1):59-66.
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Clinical management of gene expression. N Engl J Med. 1982 Dec 09; 307(24):1515-6.
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Abnormally spliced messenger RNA in erythroid cells from patients with beta+ thalassemia and monkey cells expressing a cloned beta+-thalassemic gene. Cell. 1982 Mar; 28(3):585-93.
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The thalassemia syndromes: models for the molecular analysis of human disease. Annu Rev Med. 1982; 33:363-73.
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beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0]. Proc Natl Acad Sci U S A. 1981 Jan; 78(1):469-73.
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Embryonic-fetal erythroid characteristics of a human leukemic cell line. Proc Natl Acad Sci U S A. 1980 Jun; 77(6):3509-13.
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Heterogeneity of messenger RNA defects in the thalassemia syndromes. Ann N Y Acad Sci. 1980; 344:101-12.
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Detection of early cardiac dysfunction in patients with severe beta-thalassemia and chronic iron overload. N Engl J Med. 1979 Nov 22; 301(21):1143-8.
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Hemoglobin switching in sheep. Synthesis, cloning, and characterization of DNA sequences coding for the beta B, beta C, and gamma-globin mRNAs. J Biol Chem. 1979 Aug 10; 254(15):6880-8.
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Hemoglobin switching in sheep: only the gamma gene is in the active conformation in fetal liver but all the beta and gamma genes are in the active conformation in bone marrow. Proc Natl Acad Sci U S A. 1978 Dec; 75(12):5884-8.
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Hemoglobin switching in sheep. Quantitation of betaA- and betaC-mRNA sequences in nuclear and cytoplasmic RNA during the HbA to HbC switch. J Biol Chem. 1978 Jul 25; 253(14):5025-32.
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Regulation of hemoglobin synthesis during the development of the red cell. (Second of three parts). N Engl J Med. 1977 Dec 22; 297(25):1371-81.
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Regulation of hemoglobin synthesis during the development of the red cell (first of three parts). N Engl J Med. 1977 Dec 15; 297(24):1318-28.
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