Samuel E. Lux IV, MD

Application Factors Associated With Clinical Performance During Pediatric Internship. Acad Pediatr. 2020 Sep - Oct; 20(7):1007-1012. View in: Pubmed

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4):a000885. View in: Pubmed

Anatomy of the red cell membrane skeleton: unanswered questions. Blood. 2016 Jan 14; 127(2):187-99. View in: Pubmed

Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. Am J Physiol Cell Physiol. 2011 Dec; 301(6):C1325-43. View in: Pubmed

Training program in cancer and blood diseases: Pediatric Hematology/Oncology Fellowship Program, Children's Hospital Boston/Dana-Farber Cancer Institute. Am J Hematol. 2010 Oct; 85(10):793-4. View in: Pubmed

The carboxyterminal EF domain of erythroid alpha-spectrin is necessary for optimal spectrin-actin binding. Blood. 2010 Oct 07; 116(14):2600-7. View in: Pubmed

Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes. Proc Natl Acad Sci U S A. 2010 Mar 30; 107(13):6022-7. View in: Pubmed

Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells. Blood. 2010 Mar 04; 115(9):1804-14. View in: Pubmed

Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner. J Biol Chem. 2010 Feb 12; 285(7):4757-70. View in: Pubmed

A uniform third-year application and offer date for pediatric fellow applicants: pro and con. J Pediatr. 2006 Nov; 149(5):587-588. View in: Pubmed

Identification and functional characterization of protein 4.1R and actin-binding sites in erythrocyte beta spectrin: regulation of the interactions by phosphatidylinositol-4,5-bisphosphate. Biochemistry. 2005 Aug 09; 44(31):10681-8. View in: Pubmed

Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol. 2004 Apr; 41(2):118-41. View in: Pubmed

A functional magnetic resonance imaging study of local/global processing with stimulus presentation in the peripheral visual hemifields. Neuroscience. 2004; 124(1):113-20. View in: Pubmed

Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency. Blood. 2004 Apr 15; 103(8):3233-40. View in: Pubmed

Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. Br J Haematol. 2003 Aug; 122(4):669-77. View in: Pubmed

Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. Nat Genet. 2003 May; 34(1):59-64. View in: Pubmed

A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix. J Biol Chem. 2001 Jun 29; 276(26):23974-85. View in: Pubmed

The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter. Blood. 2000 Aug 01; 96(3):1136-43. View in: Pubmed

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000 Feb 17; 403(6771):776-81. View in: Pubmed

Immunolocalization of AE2 anion exchanger in rat and mouse epididymis. Biol Reprod. 1999 Oct; 61(4):973-80. View in: Pubmed

Dependence of nodal sodium channel clustering on paranodal axoglial contact in the developing CNS. J Neurosci. 1999 Sep 01; 19(17):7516-28. View in: Pubmed

The Alzheimer-related gene presenilin 1 facilitates notch 1 in primary mammalian neurons. Brain Res Mol Brain Res. 1999 Jun 08; 69(2):273-80. View in: Pubmed

Mild spherocytosis and altered red cell ion transport in protein 4. 2-null mice. J Clin Invest. 1999 Jun; 103(11):1527-37. View in: Pubmed

Notch1 inhibits neurite outgrowth in postmitotic primary neurons. Neuroscience. 1999; 93(2):433-9. View in: Pubmed

Red blood cell membrane disorders. Br J Haematol. 1999 Jan; 104(1):2-13. View in: Pubmed

Regulation of band 3 rotational mobility by ankyrin in intact human red cells. Biochemistry. 1998 Dec 22; 37(51):17828-35. View in: Pubmed

A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. Proc Natl Acad Sci U S A. 1998 Nov 24; 95(24):14158-63. View in: Pubmed

Distribution of epithelial ankyrin (Ank3) spliceoforms in renal proximal and distal tubules. Am J Physiol. 1998 01; 274(1):F129-38. View in: Pubmed

Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. J Biol Chem. 1997 Aug 01; 272(31):19220-8. View in: Pubmed

Isoforms of ankyrin-3 that lack the NH2-terminal repeats associate with mouse macrophage lysosomes. J Cell Biol. 1997 Mar 10; 136(5):1059-70. View in: Pubmed

Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell. 1996 Sep 20; 86(6):917-27. View in: Pubmed

Isolated beta-globin chains reproduce, in normal red cell membranes, the defective binding of spectrin to alpha-thalassaemic membranes. Br J Haematol. 1996 Aug; 94(2):273-8. View in: Pubmed

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet. 1996 Jun; 13(2):214-8. View in: Pubmed

Constitutively active human Notch1 binds to the transcription factor CBF1 and stimulates transcription through a promoter containing a CBF1-responsive element. Proc Natl Acad Sci U S A. 1996 May 28; 93(11):5663-7. View in: Pubmed

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. J Clin Invest. 1996 Jan 15; 97(2):373-80. View in: Pubmed

Increased cation permeability in mutant mouse red blood cells with defective membrane skeletons. Blood. 1995 Dec 01; 86(11):4307-14. View in: Pubmed

Differential expression of Na(+)-K(+)-ATPase, ankyrin, fodrin, and E-cadherin along the kidney nephron. Am J Physiol. 1995 Dec; 269(6 Pt 1):C1417-32. View in: Pubmed

Characterization of the binary interaction between human erythrocyte protein 4.1 and actin. Eur J Biochem. 1995 Aug 01; 231(3):644-50. View in: Pubmed

Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain. J Cell Biol. 1995 Jul; 130(2):313-30. View in: Pubmed

Chromosomal location of the murine anion exchanger genes encoding AE2 and AE3. Mamm Genome. 1994 Dec; 5(12):827-9. View in: Pubmed

A highly conserved region of human erythrocyte ankyrin contains the capacity to bind spectrin. J Biol Chem. 1993 Nov 15; 268(32):24421-6. View in: Pubmed

Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis. Blood. 1993 Nov 15; 82(10):2953-60. View in: Pubmed

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. J Clin Invest. 1993 Aug; 92(2):612-6. View in: Pubmed

Complex patterns of sequence variation and multiple 5' and 3' ends are found among transcripts of the erythroid ankyrin gene. J Biol Chem. 1993 May 05; 268(13):9533-40. View in: Pubmed

Mouse microcytic anaemia caused by a defect in the gene encoding the globin enhancer-binding protein NF-E2. Nature. 1993 Apr 22; 362(6422):768-70. View in: Pubmed

Ankyrins: structure and function in normal cells and hereditary spherocytes. Semin Hematol. 1993 Apr; 30(2):85-118. View in: Pubmed

Expression, purification, and characterization of the functional dimeric cytoplasmic domain of human erythrocyte band 3 in Escherichia coli. Protein Sci. 1992 Sep; 1(9):1206-14. View in: Pubmed

The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nat Genet. 1992 Sep; 2(1):80-3. View in: Pubmed

Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo. Proc Natl Acad Sci U S A. 1992 Jul 01; 89(13):5749-53. View in: Pubmed

Large numbers of alternatively spliced isoforms of the regulatory region of human erythrocyte ankyrin. Trans Assoc Am Physicians. 1992; 105:268-77. View in: Pubmed

Murine erythrocyte ankyrin cDNA: highly conserved regions of the regulatory domain. Mamm Genome. 1992; 3(5):281-5. View in: Pubmed

Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol. 1991 Sep; 114(6):1233-41. View in: Pubmed

Isolation and chromosomal localization of a novel nonerythroid ankyrin gene. Genomics. 1991 Aug; 10(4):858-66. View in: Pubmed

Radiolabel-transfer cross-linking demonstrates that protein 4.1 binds to the N-terminal region of beta spectrin and to actin in binary interactions. Eur J Biochem. 1990 Nov 13; 193(3):827-36. View in: Pubmed

Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. N Engl J Med. 1990 Oct 11; 323(15):1046-50. View in: Pubmed

Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature. 1990 Jun 21; 345(6277):736-9. View in: Pubmed

Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin. Proc Natl Acad Sci U S A. 1990 Apr; 87(8):3117-21. View in: Pubmed

Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins. Nature. 1990 Mar 01; 344(6261):36-42. View in: Pubmed

Demonstration of the deletion of a copy of the ankyrin gene in a patient with hereditary spherocytosis by in situ hybridization. Trans Assoc Am Physicians. 1990; 103:242-8. View in: Pubmed

Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1). Proc Natl Acad Sci U S A. 1989 Dec; 86(23):9089-93. View in: Pubmed

Hereditary disorders of the red cell membrane skeleton. Trends Genet. 1989 Jul; 5(7):222-7. View in: Pubmed

Mapping the ankyrin-binding site of the human erythrocyte anion exchanger. J Biol Chem. 1989 Jun 05; 264(16):9665-72. View in: Pubmed

Differing erythrocyte membrane skeletal protein defects in alpha and beta thalassemia. J Clin Invest. 1989 Feb; 83(2):404-10. View in: Pubmed

Hemoglobin Brockton [beta 138 (H16) Ala----Pro]: an unstable variant near the C-terminus of the beta-subunits with normal oxygen-binding properties. Biochemistry. 1988 Oct 04; 27(20):7614-9. View in: Pubmed

Abnormal oxidant sensitivity and beta-chain structure of spectrin in hereditary spherocytosis associated with defective spectrin-protein 4.1 binding. J Clin Invest. 1987 Aug; 80(2):557-65. View in: Pubmed

Molecular defect in the membrane skeleton of blood bank-stored red cells. Abnormal spectrin-protein 4.1-actin complex formation. J Clin Invest. 1986 Dec; 78(6):1681-6. View in: Pubmed

Cation depletion by the sodium pump in red cells with pathologic cation leaks. Sickle cells and xerocytes. J Clin Invest. 1986 Dec; 78(6):1487-96. View in: Pubmed

The effect of mild diamide oxidation on the structure and function of human erythrocyte spectrin. J Biol Chem. 1986 Apr 05; 261(10):4620-8. View in: Pubmed

An examination of the soluble oligomeric complexes extracted from the red cell membrane and their relation to the membrane cytoskeleton. Eur J Cell Biol. 1985 Mar; 36(2):299-306. View in: Pubmed

Hereditary spherocytosis and related disorders. Clin Haematol. 1985 Feb; 14(1):15-43. View in: Pubmed

The effect of oxidation on the structure and function of human erythrocyte spectrin. Prog Clin Biol Res. 1985; 195:185-93. View in: Pubmed

Molecular defect in the sickle erythrocyte skeleton. Abnormal spectrin binding to sickle inside-our vesicles. J Clin Invest. 1985 Jan; 75(1):266-71. View in: Pubmed

Platelet membrane glycoprotein IIIa contains target antigens that bind anti-platelet antibodies in immune thrombocytopenias. J Clin Invest. 1984 Nov; 74(5):1701-7. View in: Pubmed

The erythrocyte membrane skeleton: pathophysiology. Hosp Pract (Off Ed). 1984 Nov; 19(11):89-95, 99, 103 passim. View in: Pubmed

The erythrocyte membrane skeleton: biochemistry. Hosp Pract (Off Ed). 1984 Oct; 19(10):77-83. View in: Pubmed

Analysis of the ternary interaction of the red cell membrane skeletal proteins spectrin, actin, and 4.1. Biochemistry. 1984 Sep 11; 23(19):4416-20. View in: Pubmed

An analogue of the erythroid membrane skeletal protein 4.1 in nonerythroid cells. J Cell Biol. 1984 Sep; 99(3):886-93. View in: Pubmed

A phenomenological difference between membrane skeletal protein complexes isolated from normal and hereditary spherocytosis erythrocytes. Br J Haematol. 1983 Nov; 55(3):455-63. View in: Pubmed

Red cell membrane skeletal defects in hereditary and acquired hemolytic anemias. Semin Hematol. 1983 Jul; 20(3):189-224. View in: Pubmed

High yield purification of protein 4.1 from human erythrocyte membranes. Anal Biochem. 1983 Jul 01; 132(1):195-201. View in: Pubmed

Hemolytic anemia in the mouse. Report of a new mutation and clarification of its genetics. J Hered. 1983 Mar-Apr; 74(2):88-92. View in: Pubmed

A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. N Engl J Med. 1982 Nov 25; 307(22):1367-74. View in: Pubmed

A technique to detect reduced mechanical stability of red cell membranes: relevance to elliptocytic disorders. Blood. 1982 Apr; 59(4):768-74. View in: Pubmed

Exercise-induced hemolysis in xerocytosis. Erythrocyte dehydration and shear sensitivity. J Clin Invest. 1981 Sep; 68(3):631-8. View in: Pubmed

Elliptical erythrocyte membrane skeletons and heat-sensitive spectrin in hereditary elliptocytosis. Proc Natl Acad Sci U S A. 1981 Mar; 78(3):1911-5. View in: Pubmed

Hemolytic anemias due to abnormalities in red cell spectrin: a brief review. Prog Clin Biol Res. 1981; 45:159-68. View in: Pubmed

Structural characterization of the phosphorylation sites of human erythrocyte spectrin. J Biol Chem. 1980 Dec 10; 255(23):11512-20. View in: Pubmed

Comparison of the phosphorylation of human erythrocyte spectrin in the intact red cell and in various cell-free systems. J Biol Chem. 1980 Dec 10; 255(23):11521-5. View in: Pubmed

Inherited disorders of the red cell membrane skeleton. Pediatr Clin North Am. 1980 May; 27(2):463-86. View in: Pubmed

Dissecting the red cell membrane skeleton. Nature. 1979 Oct 11; 281(5731):426-9. View in: Pubmed

Spectrin-actin membrane skeleton of normal and abnormal red blood cells. Semin Hematol. 1979 Jan; 16(1):21-51. View in: Pubmed

Hemolytic anemias associated with deficient or dysfunctional spectrin. Prog Clin Biol Res. 1979; 30:463-9. View in: Pubmed

Energy reserve and cation composition of irreversibly sickled cells in vivo. Br J Haematol. 1978 Dec; 40(4):527-32. View in: Pubmed

Membrane protein phosphorylation of intact normal and hereditary spherocytic erythrocytes. J Biol Chem. 1978 May 10; 253(9):3336-42. View in: Pubmed

Diminished spectrin extraction from ATP-depleted human erythrocytes. Evidence relating spectrin to changes in erythrocyte shape and deformability. J Clin Invest. 1978 Mar; 61(3):815-27. View in: Pubmed

Isolation and partial characterization of a high molecular weight red cell membrane protein complex normally removed by the spleen. Blood. 1977 Oct; 50(4):625-41. View in: Pubmed

Evidence that spectrin is a determinant of shape and deformability in the human erythrocyte. Prog Clin Biol Res. 1977; 17:481-91. View in: Pubmed

Irreversible deformation of the spectrin-actin lattice in irreversibly sickled cells. J Clin Invest. 1976 Oct; 58(4):955-63. View in: Pubmed

Human plasma high density lipoprotein. Interaction of the cyanogen bromide fragments from apolipoprotein glutamine II (A-II) with phosphatidylcholine. J Biol Chem. 1973 Dec 25; 248(24):8449-56. View in: Pubmed

Isolation and characterization of the tryptic and cyanogen bromide peptides of apoLp-Gln-II (apoA-II), plasma high density apolipoprotein. J Biol Chem. 1972 Dec 10; 247(23):7519-27. View in: Pubmed

Isolation and characterization of apoLp-Gln-II (apoA-II), a plasma high density apolipoprotein containing two identical polypeptide chains. J Biol Chem. 1972 Dec 10; 247(23):7510-8. View in: Pubmed

Identification of the lipid-binding cyanogen bromide fragment from the cystine-containing high density apolipoprotein, APOLP-GLN-II. Biochem Biophys Res Commun. 1972 Oct 06; 49(1):23-9. View in: Pubmed

Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein. J Clin Invest. 1972 Oct; 51(10):2505-19. View in: Pubmed

Further characterization of the polymorphic forms of a human high density apolipoprotein, apoLP-Gln-I (apoA-I). Biochim Biophys Acta. 1972 Sep 29; 278(2):266-70. View in: Pubmed

Amino acid sequence of human apoLp-Gln-II (apoA-II), an apolipoprotein isolated from the high-density lipoprotein complex. Proc Natl Acad Sci U S A. 1972 May; 69(5):1304-8. View in: Pubmed

Degradation of membrane phospholipids and thiols in peroxide hemolysis: studies in vitamin E deficiency. Blood. 1968 Oct; 32(4):549-68. View in: Pubmed