Literature DB >> 2287951

Clinical and molecular aspects of disorders of the erythrocyte membrane skeleton.

P G Gallagher1, W T Tse, B G Forget.   

Abstract

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Year:  1990        PMID： 2287951

Source DB:  PubMed          Journal:  Semin Perinatol        ISSN： 0146-0005            Impact factor:   3.300


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  7 in total

1.  Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin.

Authors:  E M del Giudice; M T Ducluzeau; N Alloisio; R Wilmotte; J Delaunay; S Perrotta; S Cutillo; A Iolascon
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

2.  An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.

Authors:  N Dalla Venezia; R Wilmotte; L Morlé; A Forissier; N Parquet; M Garbarz; T Rousset; D Dhermy; N Alloisio; J Delaunay
Journal:  Hum Genet       Date:  1993-02       Impact factor: 4.132

3.  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.

Authors:  R Wilmotte; J Maréchal; L Morlé; F Baklouti; N Philippe; R Kastally; L Kotula; J Delaunay; N Alloisio
Journal:  J Clin Invest       Date:  1993-05       Impact factor: 14.808

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.

Authors:  P G Gallagher; W T Tse; T Coetzer; M C Lecomte; M Garbarz; H S Zarkowsky; A Baruchel; S K Ballas; D Dhermy; J Palek
Journal:  J Clin Invest       Date:  1992-03       Impact factor: 14.808

5.  The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin.

Authors:  M L Bloom; T M Kaysser; C S Birkenmeier; J E Barker
Journal:  Proc Natl Acad Sci U S A       Date:  1994-10-11       Impact factor: 11.205

6.  Spectrin alpha IIa variant in dominant and non-dominant spherocytosis.

Authors:  P Boivin; C Galand; I Devaux; M C Lecomte; M Garbarz; D Dhermy
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

7.  Dystrophin colocalizes with beta-spectrin in distinct subsarcolemmal domains in mammalian skeletal muscle.

Authors:  G A Porter; G M Dmytrenko; J C Winkelmann; R J Bloch
Journal:  J Cell Biol       Date:  1992-06       Impact factor: 10.539
  7 in total

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