SUBSTITUTION OF A CYSTEINE RESIDUE IN A NON-CALCIUM BINDING, EGF-LIKE DOMAIN OF FIBRILLIN SEGREGATES WITH THE MARFAN-SYNDROME IN A LARGE KINDRED

被引:11
|
作者
PIERSALL, LD
DIETZ, HC
HALL, BD
CADLE, RG
PYERITZ, RE
FRANCOMANO, CA
MCINTOSH, I
机构
[1] JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,DEPT MED,BALTIMORE,MD 21287
[2] JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,DEPT PEDIAT,BALTIMORE,MD 21287
[3] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,DIV PEDIAT CARDIOL,BALTIMORE,MD 21287
[4] UNIV KENTUCKY,DEPT PEDIAT,DIV GENET & DYSMORPHOL,KENTUCKY CLIN,LEXINGTON,KY 40536
关键词
D O I
10.1093/hmg/3.6.1013
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:1013 / 1014
页数:2
相关论文
共 8 条
  • [1] FIBRILLIN DOMAIN FOLDING AND CALCIUM-BINDING - SIGNIFICANCE TO MARFAN-SYNDROME
    WU, YS
    BEVILACQUA, VLH
    BERG, JM
    CHEMISTRY & BIOLOGY, 1995, 2 (02): : 91 - 97
  • [2] 4 NOVEL FBN1 MUTATIONS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL AND EGF-LIKE DOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME
    DIETZ, HC
    MCINTOSH, I
    SAKAI, LY
    CORSON, GM
    CHALBERG, SC
    PYERITZ, RE
    FRANCOMANO, CA
    GENOMICS, 1993, 17 (02) : 468 - 475
  • [3] 4 NOVEL FBN1 MUTATIONS IMPLICATE MUTANT TRANSCRIPT LEVEL AND EGF-LIKE DOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME
    ELDADAH, ZA
    MCINTOSH, I
    PYERITZ, RE
    FRANCOMANO, CA
    DIETZ, HC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1154 - 1154
  • [4] A NOVEL FIBRILLIN MUTATION IN THE MARFAN-SYNDROME WHICH COULD DISRUPT CALCIUM-BINDING OF THE EPIDERMAL GROWTH FACTOR-LIKE MODULE
    HEWETT, DR
    LYNCH, JR
    SMITH, R
    SYKES, BC
    HUMAN MOLECULAR GENETICS, 1993, 2 (04) : 475 - 477
  • [5] 2 NOVEL MUTATIONS AND A NEUTRAL POLYMORPHISM IN EGF-LIKE DOMAINS OF THE FIBRILLIN GENE (FBN1) - SSCP SCREENING OF EXONS 15-21 IN MARFAN-SYNDROME PATIENTS
    HAYWARD, C
    RAE, AL
    PORTEOUS, MEM
    LOGIE, LJ
    BROCK, DJH
    HUMAN MOLECULAR GENETICS, 1994, 3 (02) : 373 - 375
  • [6] EXTRA CYSTEINE IN ONE OF THE NON-CALCIUM-BINDING EPIDERMAL GROWTH FACTOR-LIKE MOTIFS OF THE FBN1 POLYPEPTIDE IS CONNECTED TO A NOVEL VARIANT OF MARFAN-SYNDROME
    STAHLHALLENGREN, C
    UKKONEN, T
    KAINULAINEN, K
    KRISTOFERSSON, U
    SAXNE, T
    TORNQVIST, K
    PELTONEN, L
    JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (02): : 709 - 713
  • [7] Novel non-synonymous mutation in the transforming growth factor β binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS)
    Qin, Yingying
    Yan, Junhao
    Simpson, Joe Leigh
    Zhao, Yueran
    Gu, Harvest F.
    Wang, Laicheng
    Chen, Zi-Jiang
    NEUROENDOCRINOLOGY LETTERS, 2007, 28 (05) : 629 - 632
  • [8] Bovine model of marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1
    Singleton, AC
    Mitchell, AL
    Byers, PH
    Potter, KA
    Pace, JM
    HUMAN MUTATION, 2005, 25 (04) : 348 - 352