| 1 | Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R C oimbra variant of hereditary elliptocytosis. (20863723) | MoriniA"re M.... Baklouti F. | 2010 | EPB41 |
| 2 | Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. (15757247) | Dash S. | 2004 | G6PD |
| 3 | Hereditary elliptocytosis: spectrin and protein 4.1R. (15071791) | Gallagher P.G. | 2004 | EPB41 |
| 4 | Erythrocyte membrane proteins in healthy Saudis and p atients with hereditary spherocytosis and hereditary elliptocytosis. (16985305) | Al Khairy K.S.... Oluboyede O.A. | 2003 | RHD |
| 5 | Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. (11154235) | Wandersee N.J.... Barker J.E. | 2001 | SPTB |
| 6 | Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. (10845937) | Muro A.F.... Baralle F.E. | 2000 | ADD2, ADD3 |
| 7 | Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). (10049589) | Vitelli F.... Renieri A. | 1999 | AMMECR1 |
| 8 | FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (9480748) | Piccini M.... Renieri A. | 1998 | ACSL4, COL4A5, AMMECR1 |
| 9 | Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. (9576854) | Nicolas G.... Lecomte M.C. | 1998 | SPTB |
| 10 | Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? (9598718) | Jonsson J.J.... Pober B.R. | 1998 | ACSL4, COL4A5 |
| 11 | Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. (9163587) | Qualtieri A.... Brancati C. | 1997 | SPTA1, SPTB |
| 12 | Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. (8790144) | Pranke P.H.... Saad S.T. | 1996 | SPTB |
| 13 | Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575) | Gallagher P.G.... Forget B.G. | 1996 | SPTA1 |
| 14 | Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. (9037349) | Delaunay J.... Wilmotte R. | 1996 | ANK1, SPTA1, SPTB |
| 15 | Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (8844207) | Maillet P.... Delaunay J. | 1996 | SPTA1, SPTB |
| 16 | Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. (8857939) | Glele-Kakai C.... Dhermy D. | 1996 | SPTA1 |
| 17 | Beta spectrin PRAGUE: a truncated beta spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis. (8547102) | Jarolim P.... Palek J. | 1995 | SPTB |
| 18 | Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. (8018926) | Parquet N.... Garbarz M. | 1994 | SPTA1, SPTB |
| 19 | A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. (8040317) | Hassoun H.... Palek J. | 1994 | SPTA1 |
| 20 | Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74). (8193371) | Perrotta S.... Lolascon A. | 1994 | SPTA1 |
| 21 | An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. (8423235) | Conboy J.G.... Mohandas N. | 1993 | EPB41 |
| 22 | Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site. (1638030) | Alloisio N.... Delaunay J. | 1992 | SPTA1 |
| 23 | Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene. (1498324) | Garbarz M.... Dhermy D. | 1992 | SPTB |
| 24 | Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. (1430200) | Dalla Venezia N.... Delaunay J. | 1992 | EPB41 |
| 25 | Abnormalities of beta spectrin with hereditary elliptocytosis in mother and child (1635163) | Iyori H.... Yamada O. | 1992 | HP, SPTB |
| 26 | 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. (1541680) | Gallagher P.G.... Forget B.G. | 1992 | SPTA1 |
| 27 | A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). (1391962) | Kanzaki A.... Horiguchi M. | 1992 | SPTA1, SPTB |
| 28 | A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. (1840591) | Gallagher P.G.... Forget B.G. | 1991 | SPTB |
| 29 | Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597) | Floyd P.B.... Forget B.G. | 1991 | SPTA1 |
| 30 | Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. (1679439) | Coetzer T.L.... Palek J. | 1991 | SPTA1 |
| 31 | An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). (2070088) | Tse W.T.... Forget B.G. | 1991 | SPTA1, SPTB |
| 32 | Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. (1884026) | Telen M.J.... Colin Y. | 1991 | GYPC |
| 33 | Disorders of the membrane skeleton of erythrocytes i n hereditary spherocytosis and elliptocytosis: significance of the molecular de fect for pathogenesis and clinical severity (1942935) | Eber S.W. | 1991 | SPTB |
| 34 | Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. (2056132) | Garbarz M.... Forget B.G. | 1991 | SPTA1, SPTB |
| 35 | Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. (2384598) | Conboy J.... Mohandas N. | 1990 | EPB41 |
| 36 | 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. (2346784) | Coetzer T.... Schewitz G. | 1990 | SPTA1, SPTB |
| 37 | Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. (1975598) | Tse W.T.... Forget B.G. | 1990 | SPTB |
| 38 | Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. (2794061) | Sahr K.E.... Forget B.G. | 1989 | SPTA1 |
| 39 | Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. (3597773) | Marchesi S.L.... Gulati G. | 1987 | SPTA1 |
| 40 | Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis. (3580577) | Pothier B.... Lecomte M.C. | 1987 | SPTA1, SPTB |
| 41 | Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. (6894932) | Tchernia G.... Shohet S.B. | 1981 | EPB41 |
