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Titolo:
2 DISTINCT TRUNCATED VARIANTS OF ANKYRIN ASSOCIATED WITH HEREDITARY SPHEROCYTOSIS
Autore:
HAYETTE S; CARRE G; BOZON M; ALLOISIO N; MAILLET P; WILMOTTE R; PASCAL O; REYNAUD J; REMAN O; STEPHAN JL; MORLE L; DELAUNAY J;
Indirizzi:
UNIV LYON 1,CGMC,BATIMENT 741,43 BLVD 11 NOVEMBRE 1918 F-69622 VILLEURBANNE FRANCE INST PASTEUR LYON,LAB GENET MOL HUMAINE,CNRS,URA 1171 LYON FRANCE HOP EDOUARD HERRIOT,FEDERAT BIOCHIM,UNITE FONCT 468 LYON FRANCE CHU NANTES,GENET MOL LAB F-44035 NANTES 01 FRANCE HOP NORD,HEMATOL LAB ST ETIENNE ROUVRA FRANCE CHU CAEN,SERV HEMATOL CLIN F-14000 CAEN FRANCE HOP NORD,UNITE HEMATOL & ONCOL PEDIAT ST ETIENNE ROUVRA FRANCE
Titolo Testata:
American journal of hematology
fascicolo: 1, volume: 58, anno: 1998,
pagine: 36 - 41
SICI:
0361-8609(1998)58:1<36:2DTVOA>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
MESSENGER-RNA; ERYTHROCYTE ANKYRIN; REGULATORY DOMAIN; MUTATIONS; NONSENSE; GENE; DOMINANT; MEMBRANE;
Keywords:
HEREDITARY SPHEROCYTOSIS; ANK1 GENE; NONSENSE MUTATIONS; TRUNCATED ANKYRINS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
S. Hayette et al., "2 DISTINCT TRUNCATED VARIANTS OF ANKYRIN ASSOCIATED WITH HEREDITARY SPHEROCYTOSIS", American journal of hematology, 58(1), 1998, pp. 36-41

Abstract

We present two distinct truncated variants of ankyrin associated withmild to moderate hereditary spherocytosis, Ankyrin Saint-Etienne 1 was manifested by an additional band located between bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 39: TGG-->TGA; W1721X. Ankyrin Saint-Etienne 2 appeared as two faint bands underlining bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 41: CGA-->TGA; R1833X. Overall ankyrin was diminished in splenectomized patients. Messenger RNAs Saint-Etienne 1 and 2 amounted to 20 and 37% of the total ankyrin mRNA, respectively. Ankyrin molecules truncated in their C-terminal region retain some ability to bind to the membrane whereas the bulk of nonsense mutations, located in more upstream regions, result in the mere disappearance of one haploid set of ankyrin, Inthe present cases, it was not possible to apportion the roles of ankyrin reduction and truncation in the pathogenesis of hereditary spherocytosis. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 07:49:46