These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 14661034)

  • 1. Mutation of a highly conserved isoleucine disrupts hydrophobic interactions in the alpha beta spectrin self-association binding site.
    Gallagher PG; Zhang Z; Morrow JS; Forget BG
    Lab Invest; 2004 Feb; 84(2):229-34. PubMed ID: 14661034
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.
    Gallagher PG; Petruzzi MJ; Weed SA; Zhang Z; Marchesi SL; Mohandas N; Morrow JS; Forget BG
    J Clin Invest; 1997 Jan; 99(2):267-77. PubMed ID: 9005995
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis.
    Iolascon A; King MJ; Robertson S; Avvisati RA; Vitiello F; Asci R; Scoppettuolo MN; Delaunay J
    Blood Cells Mol Dis; 2011 Mar; 46(3):195-200. PubMed ID: 21212007
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.
    Gallagher PG; Tse WT; Coetzer T; Lecomte MC; Garbarz M; Zarkowsky HS; Baruchel A; Ballas SK; Dhermy D; Palek J
    J Clin Invest; 1992 Mar; 89(3):892-8. PubMed ID: 1541680
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.
    Garbarz M; Lecomte MC; Féo C; Devaux I; Picat C; Lefebvre C; Galibert F; Gautero H; Bournier O; Galand C
    Blood; 1990 Apr; 75(8):1691-8. PubMed ID: 2328319
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation.
    Harper SL; Sriswasdi S; Tang HY; Gaetani M; Gallagher PG; Speicher DW
    Blood; 2013 Oct; 122(17):3045-53. PubMed ID: 23974198
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.
    Coetzer T; Palek J; Lawler J; Liu SC; Jarolim P; Lahav M; Prchal JT; Wang W; Alter BP; Schewitz G
    Blood; 1990 Jun; 75(11):2235-44. PubMed ID: 2346784
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
    Tse WT; Lecomte MC; Costa FF; Garbarz M; Feo C; Boivin P; Dhermy D; Forget BG
    J Clin Invest; 1990 Sep; 86(3):909-16. PubMed ID: 1975598
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).
    Perrotta S; Miraglia del Giudice E; Alloisio N; Sciarratta G; Pinto L; Delaunay J; Cutillo S; Iolascon A
    Blood; 1994 Jun; 83(11):3346-9. PubMed ID: 8193371
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex.
    Ipsaro JJ; Harper SL; Messick TE; Marmorstein R; Mondragón A; Speicher DW
    Blood; 2010 Jun; 115(23):4843-52. PubMed ID: 20197550
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
    Christensen RD; Nussenzveig RH; Reading NS; Agarwal AM; Prchal JT; Yaish HM
    Neonatology; 2014; 105(1):1-4. PubMed ID: 24193021
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).
    Dalla Venezia N; Alloisio N; Forissier A; Denoroy L; Aymerich M; Vives-Corrons JL; Besalduch J; Besson I; Delaunay J
    Blood; 1993 Sep; 82(5):1661-5. PubMed ID: 8364215
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
    Alloisio N; Wilmotte R; Morlé L; Baklouti F; Maréchal J; Ducluzeau MT; Denoroy L; Féo C; Forget BG; Kastally R
    Blood; 1992 Aug; 80(3):809-15. PubMed ID: 1638030
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain.
    Zhang Z; Weed SA; Gallagher PG; Morrow JS
    Blood; 2001 Sep; 98(6):1645-53. PubMed ID: 11535493
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.
    Randon J; Boulanger L; Marechal J; Garbarz M; Vallier A; Ribeiro L; Tamagnini G; Dhermy D; Delaunay J
    Br J Haematol; 1994 Nov; 88(3):534-40. PubMed ID: 7819065
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis.
    Qualtieri A; Pasqua A; Bisconte MG; Le Pera M; Brancati C
    Br J Haematol; 1997 May; 97(2):273-8. PubMed ID: 9163587
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer.
    Sahr KE; Coetzer TL; Moy LS; Derick LH; Chishti AH; Jarolim P; Lorenzo F; Miraglia del Giudice E; Iolascon A; Gallanello R
    J Biol Chem; 1993 Oct; 268(30):22656-62. PubMed ID: 8226774
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spectrin oligomerization is cooperatively coupled to membrane assembly: a linkage targeted by many hereditary hemolytic anemias?
    Giorgi M; Cianci CD; Gallagher PG; Morrow JS
    Exp Mol Pathol; 2001 Jun; 70(3):215-30. PubMed ID: 11418000
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion.
    Gallagher PG; Roberts WE; Benoit L; Speicher DW; Marchesi SL; Forget BG
    Blood; 1993 Oct; 82(7):2210-5. PubMed ID: 8400271
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
    Suzuki T; Togawa T; Kanno H; Ogura H; Yamamoto T; Sugiura T; Kouwaki M; Saitoh S
    J Pediatr Hematol Oncol; 2021 Mar; 43(2):e250-e254. PubMed ID: 32287101
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.