学术探索
学术期刊
新闻热点
数据分析
智能评审

DNA helicases in inherited human disorders

被引：114
作者：
Ellis, NA
机构：
[1] Laboratory of Human Genetics, New York Blood Center, New York, NY 10021
来源：
CURRENT OPINION IN GENETICS & DEVELOPMENT | 1997年 / 7卷 / 03期
关键词：
D O I：
10.1016/S0959-437X(97)80149-9
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.
引用
收藏
页码：354 / 363
页数：10
相关论文
共 79 条
  • [1] Role for N-CoR and histone deacetylase in Sin3-mediated transcriptional repression
    Alland, L
    Muhle, R
    Hou, H
    Potes, J
    Chin, L
    SchreiberAgus, N
    DePinho, RA
    [J]. NATURE, 1997, 387 (6628) : 49 - 55
  • [2] MUTATIONS IN THE XERODERMA-PIGMENTOSUM GROUP-D DNA REPAIR/TRANSCRIPTION GENE IN PATIENTS WITH TRICHOTHIODYSTROPHY
    BROUGHTON, BC
    STEINGRIMSDOTTIR, H
    WEBER, CA
    LEHMANN, AR
    [J]. NATURE GENETICS, 1994, 7 (02) : 189 - 194
  • [3] THE SNF/SWI FAMILY OF GLOBAL TRANSCRIPTIONAL ACTIVATORS
    CARLSON, M
    LAURENT, BC
    [J]. CURRENT OPINION IN CELL BIOLOGY, 1994, 6 (03) : 396 - 402
  • [4] RETRACTED: Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G (Retracted Article. See vol 308, pg 1740, 2005)
    Cooper, PK
    Nouspikel, T
    Clarkson, SG
    Leadon, SA
    [J]. SCIENCE, 1997, 275 (5302) : 990 - 993
  • [5] STIMULATION OF GAL4 DERIVATIVE BINDING TO NUCLEOSOMAL DNA BY THE YEAST SWI/SNF COMPLEX
    COTE, J
    QUINN, J
    WORKMAN, JL
    PETERSON, CL
    [J]. SCIENCE, 1994, 265 (5168) : 53 - 60
  • [6] EVOLUTION OF THE SNF2 FAMILY OF PROTEINS - SUBFAMILIES WITH DISTINCT SEQUENCES AND FUNCTIONS
    EISEN, JA
    SWEDER, KS
    HANAWALT, PC
    [J]. NUCLEIC ACIDS RESEARCH, 1995, 23 (14) : 2715 - 2723
  • [7] ELLIS NA, 1994, AM J HUM GENET, V55, P453
  • [8] ELLIS NA, 1995, AM J HUM GENET, V57, P1019
  • [9] THE BLOOMS-SYNDROME GENE-PRODUCT IS HOMOLOGOUS TO RECQ HELICASES
    ELLIS, NA
    GRODEN, J
    YE, TZ
    STRAUGHEN, J
    LENNON, DJ
    CIOCCI, S
    PROYTCHEVA, M
    GERMAN, J
    [J]. CELL, 1995, 83 (04) : 655 - 666
  • [10] WERNERS SYNDROME - A REVIEW OF ITS SYMPTOMATOLOGY NATURAL HISTORY PATHOLOGIC FEATURES GENETICS AND RELATIONSHIP TO NATURAL AGING PROCESS
    EPSTEIN, CJ
    MARTIN, GM
    SCHULTZ, AL
    MOTULSKY, AG
    [J]. MEDICINE, 1966, 45 (03) : 177 - +
12345678