151 related articles for article (PubMed ID: 2384601)
1. Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).
Morlé L; Roux AF; Alloisio N; Pothier B; Starck J; Denoroy L; Morlé F; Rudigoz RC; Forget BG; Delaunay J
J Clin Invest; 1990 Aug; 86(2):548-54. PubMed ID: 2384601
[TBL] [Abstract][Full Text] [Related]
2. 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.
Sahr KE; Tobe T; Scarpa A; Laughinghouse K; Marchesi SL; Agre P; Linnenbach AJ; Marchesi VT; Forget BG
J Clin Invest; 1989 Oct; 84(4):1243-52. PubMed ID: 2794061
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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.
Garbarz M; Tse WT; Gallagher PG; Picat C; Lecomte MC; Galibert F; Dhermy D; Forget BG
J Clin Invest; 1991 Jul; 88(1):76-81. PubMed ID: 2056132
[TBL] [Abstract][Full Text] [Related]
6. Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution.
Pothier B; Alloisio N; Maréchal J; Morlé L; Ducluzeau MT; Caldani C; Philippe N; Delaunay J
Blood; 1990 May; 75(10):2061-9. PubMed ID: 2337674
[TBL] [Abstract][Full Text] [Related]
7. Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.
Perrotta S; Iolascon A; De Angelis F; Pagano L; Colonna G; Cutillo S; Miraglia del Giudice E
Br J Haematol; 1995 Apr; 89(4):933-6. PubMed ID: 7772539
[TBL] [Abstract][Full Text] [Related]
8. Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.
Coetzer TL; Sahr K; Prchal J; Blacklock H; Peterson L; Koler R; Doyle J; Manaster J; Palek J
J Clin Invest; 1991 Sep; 88(3):743-9. PubMed ID: 1679439
[TBL] [Abstract][Full Text] [Related]
9. Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.
Wilmotte R; Maréchal J; Morlé L; Baklouti F; Philippe N; Kastally R; Kotula L; Delaunay J; Alloisio N
J Clin Invest; 1993 May; 91(5):2091-6. PubMed ID: 8486776
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant].
Garbarz M; Devaux I; Grandchamp B; Picat C; Dhermy D; Lecomte MC; Boivin P; Sahr KE; Forget B
C R Acad Sci III; 1989; 308(2):43-8. PubMed ID: 2493313
[TBL] [Abstract][Full Text] [Related]
12. Abnormal tryptic peptide from the spectrin alpha-chain resulting from alpha- or beta-chain mutations: two genetically distinct forms of the Sp alpha I/74 variant.
Lecomte MC; Gautero H; Garbarz M; Boivin P; Dhermy D
Br J Haematol; 1990 Nov; 76(3):406-13. PubMed ID: 2261350
[TBL] [Abstract][Full Text] [Related]
13. 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.
Garbarz M; Boulanger L; Pedroni S; Lecomte MC; Gautero H; Galand C; Boivin P; Feldman L; Dhermy D
Blood; 1992 Aug; 80(4):1066-73. PubMed ID: 1498324
[TBL] [Abstract][Full Text] [Related]
14. Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain.
Morlé L; Morlé F; Roux AF; Godet J; Forget BG; Denoroy L; Garbarz M; Dhermy D; Kastally R; Delaunay J
Blood; 1989 Aug; 74(2):828-32. PubMed ID: 2568861
[TBL] [Abstract][Full Text] [Related]
15. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
Floyd PB; Gallagher PG; Valentino LA; Davis M; Marchesi SL; Forget BG
Blood; 1991 Sep; 78(5):1364-72. PubMed ID: 1878597
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants.
Lecomte MC; Garbarz M; Gautero H; Bournier O; Galand C; Boivin P; Dhermy D
Br J Haematol; 1993 Nov; 85(3):584-95. PubMed ID: 8136282
[TBL] [Abstract][Full Text] [Related]
17. [Family of hereditary elliptocytosis with abnormalities of spectrin function (Sp alpha 1/74)].
Okino E; Mori C; Yamazaki S; Toyota K; Yamada T; Tachi K; Shike S; Kanzaki A; Ikeda A; Yawata Y
Rinsho Ketsueki; 1989 Jul; 30(7):1047-51. PubMed ID: 2810789
[TBL] [Abstract][Full Text] [Related]
18. Clinical expression of alpha spectrin mutants in hereditary elliptocytosis.
Palek J; Coetzer T
Blood Cells; 1987; 13(1-2):237-50. PubMed ID: 3311220
[TBL] [Abstract][Full Text] [Related]
19. Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis.
Baklouti F; Marechal J; Morle L; Alloisio N; Wilmotte R; Pothier B; Ducluzeau MT; Kastally R; Delaunay J
Br J Haematol; 1991 May; 78(1):108-13. PubMed ID: 2043465
[TBL] [Abstract][Full Text] [Related]
20. Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families.
Roux AF; Morlé F; Guetarni D; Colonna P; Sahr K; Forget BG; Delaunay J; Godet J
Blood; 1989 Jun; 73(8):2196-201. PubMed ID: 2567189
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]