CFTR NONSENSE MUTATIONS G542X AND W1282X ASSOCIATED WITH SEVERE REDUCTION OF CFTR MESSENGER-RNA IN NASAL EPITHELIAL-CELLS

被引：87
|
作者：
HAMOSH, A
ROSENSTEIN, BJ
CUTTING, GR
机构：
[1] JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21287 USA
[2] JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21287 USA
[3] JOHNS HOPKINS UNIV, SCH MED, DEPT MED, BALTIMORE, MD 21287 USA
来源：
HUMAN MOLECULAR GENETICS | 1992年 / 1卷 / 07期
关键词：
D O I：
10.1093/hmg/1.7.542
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：542 / 544
页数：3
相关论文
共 27 条
  • [21] A DONOR SPLICE MUTATION (405+1G-]A) IN CYSTIC-FIBROSIS ASSOCIATED WITH EXON SKIPPING IN EPITHELIAL CFTR MESSENGER-RNA
    DORK, T
    WILL, K
    DEMMER, A
    TUMMLER, B
    HUMAN MOLECULAR GENETICS, 1993, 2 (11) : 1965 - 1966
  • [22] Functional rescue of c.3846G>A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action
    Laselva, Onofrio
    Eckford, Paul D. W.
    Bartlett, Claire
    Ouyang, Hong
    Gunawardena, Tarini N. A.
    Gonska, Tanja
    Moraes, Theo J.
    Bear, Christine E.
    JOURNAL OF CYSTIC FIBROSIS, 2020, 19 (05) : 717 - 727
  • [23] ANALYSIS OF CFTR TRANSCRIPTS IN NASAL EPITHELIAL-CELLS AND LYMPHOBLASTS OF A CYSTIC-FIBROSIS PATIENT WITH 621+1G-]T AND 711+1G-]T MUTATIONS
    ZIELENSKI, J
    BOZON, D
    MARKIEWICZ, D
    AUBIN, G
    SIMARD, F
    ROMMENS, JM
    TSUI, LC
    HUMAN MOLECULAR GENETICS, 1993, 2 (06) : 683 - 687
  • [24] NONSENSE MUTATION R1162X OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE DOES NOT REDUCE MESSENGER-RNA EXPRESSION IN NASAL EPITHELIAL TISSUE
    ROLFINI, R
    CABRINI, G
    JOURNAL OF CLINICAL INVESTIGATION, 1993, 92 (06): : 2683 - 2687
  • [25] Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutations in CFTR gene
    Kondrateva, Ekaterina
    Demchenko, Anna
    Slesarenko, Yana
    Pozhitnova, Victoria
    Yasinovsky, Matvey
    Amelina, Elena
    Tabakov, Vyacheslav
    Voronina, Ekaterina
    Lavrov, Alexander
    Smirnikhina, Svetlana
    STEM CELL RESEARCH, 2021, 52
  • [26] Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene
    Maria Tzetis
    Alexandra Efthymiadou
    Stavros Doudounakis
    Emmanuel Kanavakis
    Human Genetics, 2001, 109 : 592 - 601
  • [27] Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717-9T→C-D565G) and one nonsense mutation (ES22X) in the CFTR gene
    Tzetis, M
    Efthymiadou, A
    Doudounakis, S
    Kanavakis, E
    HUMAN GENETICS, 2001, 109 (06) : 592 - 601
123