Literature DB >> 2403451

The red cell skeleton and its genetic disorders.

J Delaunay1, N Alloisio, L Morlé, B Pothier.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1990        PMID: 2403451     DOI: 10.1016/0098-2997(90)90001-i

Source DB:  PubMed          Journal:  Mol Aspects Med        ISSN: 0098-2997


× No keyword cloud information.
  11 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.  Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

Authors:  N Dalla Venezia; F Gilsanz; N Alloisio; M T Ducluzeau; E J Benz; J Delaunay
Journal:  J Clin Invest       Date:  1992-11       Impact factor: 14.808

3.  Evidence that expression of Sp alpha I/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous alpha-spectrin allele.

Authors:  D Guetarni; A F Roux; N Alloisio; F Morlé; M T Ducluzeau; B G Forget; P Colonna; J Delaunay; J Godet
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

4.  Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.

Authors:  N Alloisio; L Morlé; J Maréchal; A F Roux; M T Ducluzeau; D Guetarni; B Pothier; F Baklouti; A Ghanem; R Kastally; J Delaunay
Journal:  J Clin Invest       Date:  1991-06       Impact factor: 14.808

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.

Authors:  M Garbarz; W T Tse; P G Gallagher; C Picat; M C Lecomte; F Galibert; D Dhermy; B G Forget
Journal:  J Clin Invest       Date:  1991-07       Impact factor: 14.808

6.  Immunocytochemical study of membrane skeletons in abnormally shaped erythrocytes as revealed by a quick-freezing and deep-etching method.

Authors:  S Ohno; N Terada; Y Fujii; H Ueda; H Kuramoto; N Kamisawa
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

7.  VPS13 regulates membrane morphogenesis during sporulation in Saccharomyces cerevisiae.

Authors:  Jae-Sook Park; Aaron M Neiman
Journal:  J Cell Sci       Date:  2012-03-22       Impact factor: 5.285

8.  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

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.

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

10.  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

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.