Cell-specific processing of mutant type I collagen in three probands with Osteogenesis imperfecta.

被引：0
|
作者：
Cabral, WA [1 ]
Marini, JC [1 ]
机构：
[1] NICHD, NIH, Bethesda, MD USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1606
引用
收藏
页码：A287 / A287
页数：1
相关论文
共 50 条
  • [41] OSTEOGENESIS IMPERFECTA (OI) - INCREASED POSTTRANSLATIONAL MODIFICATION OF ABNORMAL TYPE-I COLLAGEN
    RAO, VH
    STEINMANN, B
    GITZELMANN, R
    EXPERIENTIA, 1984, 40 (06): : 652 - 652
  • [42] Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice
    Lee, Katie J.
    Rambault, Lisa
    Bou-Gharios, George
    Clegg, Peter D.
    Akhtar, Riaz
    Czanner, Gabriela
    van't Hof, Rob
    Canty-Laird, Elizabeth G.
    DISEASE MODELS & MECHANISMS, 2022, 15 (09)
  • [43] Aberrant binding of mutant HSP47 affects post-translational modification of type I collagen and leads to osteogenesis imperfecta
    Syx, Delfien
    Ishikawa, Yoshihiro
    Gebauer, Jan
    Boudko, Sergei P.
    Guillemyn, Brecht
    Van Damme, Tim
    D'hondt, Sanne
    Symoens, Sofie
    Nampoothiri, Sheela
    Gould, Douglas B.
    Baumann, Ulrich
    Bachinger, Hans Peter
    Malfait, Fransiska
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 165 - 166
  • [44] Selective Suppression of Mutant Type I Collagen mRNA in Cultured Osteogenesis Imperfecta Fibroblasts: Development of Gene Therapy for Dominant Disorders • 708
    Paul A Dawson
    Joan C Marini
    Pediatric Research, 1998, 43 (Suppl 4) : 123 - 123
  • [45] Defining Interactomes of Wild-Type Versus Misfolding Type I Collagen Variants in Osteogenesis Imperfecta
    Duc Ngoc Doan
    DiChiara, Andrew S.
    Del Rosario, Amanda
    Shoulders, Matthew D.
    FASEB JOURNAL, 2017, 31
  • [46] Specific osteogenesis imperfecta-related Gly substitutions in type I collagen induce distinct structural, mechanical, and dynamic characteristics
    Shi, Haoyuan
    Zhao, Liming
    Zhai, Chenxi
    Yeo, Jingjie
    CHEMICAL COMMUNICATIONS, 2021, 57 (91) : 12183 - 12186
  • [47] Studies on type I collagen in skin fibroblasts cultured from twins with lethal osteogenesis imperfecta
    Galicka, A
    Wolczynski, S
    Gindzienski, A
    ACTA BIOCHIMICA POLONICA, 2003, 50 (02) : 481 - 488
  • [48] COLLAGEN DEFECT OF BONE IN OSTEOGENESIS IMPERFECTA (TYPE-I) - AN ELECTRON-MICROSCOPIC STUDY
    JONES, CJP
    CUMMINGS, C
    BALL, J
    BEIGHTON, P
    CLINICAL ORTHOPAEDICS AND RELATED RESEARCH, 1984, (183) : 208 - 214
  • [49] Expression and regulation of type I collagen and other matrix components in osteogenesis imperfecta osteoblasts.
    Cohen, IR
    Gajko, A
    Marini, JC
    MATRIX BIOLOGY, 1996, 15 (03) : 177 - 178
  • [50] Expression and regulation of type I collagen and other matrix components in Osteogenesis Imperfecta osteoblasts.
    Cohen, IR
    Gajko, A
    Marini, JC
    JOURNAL OF BONE AND MINERAL RESEARCH, 1996, 11 : S644 - S644
12345