DETECTION OF 3 NONSENSE MUTATIONS AND ONE MISSENSE MUTATION IN THE INTERLEUKIN-2 RECEPTOR-GAMMA CHAIN GENE IN SCIDX1 THAT DIFFERENTLY AFFECT THE MESSENGER-RNA PROCESSING

被引：26

作者：

MARKIEWICZ, S ^{[1
]}

SUBTIL, A ^{[1
]}

DAUTRYVARSAT, A ^{[1
]}

FISCHER, A ^{[1
]}

DESAINTBASILE, G ^{[1
]}

机构：

[1] INST PASTEUR,CNRS,URA 361,F-75743 PARIS 15,FRANCE

来源：

GENOMICS | 1994年 / 21卷 / 01期

关键词：

D O I：

10.1006/geno.1994.1265

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

[No abstract available]

引用

页码：291 / 293

页数：3

共 16 条

[1] STRUCTURAL DESIGN AND MOLECULAR EVOLUTION OF A CYTOKINE RECEPTOR SUPERFAMILY [J].

BAZAN, JF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (18) :6934-6938

[2] CHARACTERIZATION OF CDNAS ENCODING THE MURINE INTERLEUKIN-2 RECEPTOR (IL-2R) GAMMA-CHAIN - CHROMOSOMAL MAPPING AND TISSUE-SPECIFICITY OF IL-2R GAMMA-CHAIN EXPRESSION [J].

CAO, XQ ;

KOZAK, CA ;

LIU, YJ ;

NOGUCHI, M ;

OCONNELL, E ;

LEONARD, WJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (18) :8464-8468

[3] PREMATURE TRANSLATION TERMINATION MEDIATES TRIOSEPHOSPHATE ISOMERASE MESSENGER-RNA DEGRADATION [J].

DAAR, IO ;

MAQUAT, LE .

MOLECULAR AND CELLULAR BIOLOGY, 1988, 8 (02) :802-813

[4] THE SKIPPING OF CONSTITUTIVE EXONS INVIVO INDUCED BY NONSENSE MUTATIONS [J].

DIETZ, HC ;

VALLE, D ;

FRANCOMANO, CA ;

KENDZIOR, RJ ;

PYERITZ, RE ;

CUTTING, GR .

SCIENCE, 1993, 259 (5095) :680-683

[5] INTERLEUKIN-2 (IL-2) RECEPTOR-GAMMA CHAIN MUTATIONS IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY DISEASE RESULT IN THE LOSS OF HIGH-AFFINITY IL-2 RECEPTOR-BINDING [J].

DISANTO, JP ;

DAUTRYVARSAT, A ;

CERTAIN, S ;

FISCHER, A ;

DESAINTBASILE, G .

EUROPEAN JOURNAL OF IMMUNOLOGY, 1994, 24 (02) :475-479

[6] A NONSENSE MUTATION AND EXON SKIPPING IN THE FANCONI-ANEMIA GROUP-C GENE [J].

GIBSON, RA ;

HAJIANPOUR, A ;

MURERORLANDO, M ;

BUCHWALD, M ;

MATHEW, CG .

HUMAN MOLECULAR GENETICS, 1993, 2 (06) :797-799

[7] SELECTIVE DEFECT OF PRECURSOR T-CELLS ASSOCIATED WITH APPARENTLY NORMAL B-LYMPHOCYTES IN SEVERE COMBINED IMMUNODEFICIENCY DISEASE [J].

GRISCELLI, C ;

DURANDY, A ;

VIRELIZIER, JL ;

BALLET, JJ ;

DAGUILLARD, F .

JOURNAL OF PEDIATRICS, 1978, 93 (03) :404-411

[8] SHARING OF THE INTERLEUKIN-2 (IL-2) RECEPTOR GAMMA-CHAIN BETWEEN RECEPTORS FOR IL-2 AND IL-4 [J].

KONDO, M ;

TAKESHITA, T ;

ISHII, N ;

NAKAMURA, M ;

WATANABE, S ;

ARAI, K ;

SUGAMURA, K .

SCIENCE, 1993, 262 (5141) :1874-1877

[9] ALTERNATIVE SPLICING - A MECHANISM FOR PHENOTYPIC RESCUE OF A COMMON INHERITED DEFECT [J].

MORISAKI, H ;

MORISAKI, T ;

NEWBY, LK ;

HOLMES, EW .

JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (05) :2275-2280

[10] INTERLEUKIN-2 RECEPTOR GAMMA CHAIN MUTATION RESULTS IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY IN HUMANS [J].

NOGUCHI, M ;

YI, HF ;

ROSENBLATT, HM ;

FILIPOVICH, AH ;

ADELSTEIN, S ;

MODI, WS ;

MCBRIDE, OW ;

LEONARD, WJ .

CELL, 1993, 73 (01) :147-157

← 1 2 →