Effects of Fibrillin-1 mutation (Tight skin mouse) in joint health

被引：0
作者：
Keenan, C. [1 ]
Ramos, L. [1 ]
Smith, H. [1 ]
Ramanayake, W. [2 ]
Andrew, P. [3 ]
Bou-Gharios, G. [1 ]
David, A. [2 ]
Blandine, P. [1 ]
机构：
[1] Univ Liverpool, Inst Ageing & Chrom Dis, Liverpool, Merseyside, England
[2] UCL, Ctr Rheumatol & Connect Tissue Dis, London, England
[3] Royal Vet Coll, Comparat Biomed Sci, London, England
来源：
INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY | 2019年 / 100卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
28
引用
收藏
页码：A22 / A22
页数：1
相关论文
共 50 条
  • [31] Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
    Loeys, B. L.
    Gerber, E. E.
    Riegert-Johnson, D.
    Iqbal, S.
    Whiteman, P.
    McConnell, V.
    Chillakuri, C. R.
    Macaya, D.
    Coucke, P. J.
    De Paepe, A.
    Judge, D. P.
    Wigley, F.
    Davis, E. C.
    Mardon, H. J.
    Handford, P.
    Keene, D. R.
    Sakai, L. Y.
    Dietz, H. C.
    SCIENCE TRANSLATIONAL MEDICINE, 2010, 2 (23) : 23ra20
  • [32] Investigation of fibrillin-1 and LOXL1 in ocular health and disease
    Kuchtey, Rachel W.
    Wareham, Lauren
    Wu, Hangjing
    Krystofiak, Evan
    Wu, Yusheng
    Reinhart-King, Cynthia
    Raghunathan, Vijaykrishna
    Pokidysheva, Elena
    Budko, Sergei
    Kuchtey, John
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [33] Hypogenesis of Lymphatic Vessels in the Mitral Valve of Fibrillin-1 Mutant Mouse
    Tan, Can
    Chiu, Stephen
    Kume, Tsutomu
    CIRCULATION, 2024, 150
  • [34] Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
    Wanguo Liu
    Chiping Qian
    Uta Francke
    Nature Genetics, 1997, 16 : 328 - 329
  • [35] SPONTANEOUS CORONARY ARTERY DISSECTION AS AN ISOLATED MANIFESTATION OF FIBRILLIN-1 MUTATION.
    Meda, Namratha Seetharam
    Garg, Mohil
    Tuli, Aakash
    Shakhtour, Omar
    Gadodia, Ritika
    Saxena, Abhinav
    Melaku, Gebremedhin
    Garcia, Hector Manuel Garcia
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2023, 81 (08) : 2738 - 2738
  • [36] Fibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice
    Hossain, A. S. M. Sakhawat
    Clarin, Maria Thea Rane Dela Cruz
    Kimura, Kenichi
    Biggin, George
    Taga, Yuki
    Uto, Koichiro
    Yamagishi, Ayana
    Motoyama, Eri
    Narenmandulaa
    Mizuno, Kazunori
    Nakamura, Chikashi
    Asano, Keiichi
    Ohtsuki, Sumio
    Nakamura, Tomoyuki
    Kanki, Sachiko
    Baldock, Clair
    Raja, Erna
    Yanagisawa, Hiromi
    MATRIX BIOLOGY, 2025, 135 : 24 - 38
  • [37] A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in Korean Girl
    Nam, Hyo-Kyoung
    Nam, Myung-Hyun
    Rhie, Young-Jun
    Lee, Kee-Hyoung
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 462 - 462
  • [38] A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl
    Nam, Hyo-Kyoung
    Nam, Myung-Hyun
    Ha, Kee-Soo
    Rhie, Young-Jun
    Lee, Kee-Hyoung
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2017, 47 (02) : 221 - 225
  • [39] Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of marfan syndrome in a national health service laboratory
    Howarth, Rachel
    Yearwood, Catharina
    Harvey, John F.
    GENETIC TESTING, 2007, 11 (02): : 146 - 152
  • [40] A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome
    Liu, Dan-Li
    Cao, Juan-Hui
    Yang, Jie
    He, Fen
    Wang, Yun
    Fan, Ning
    Liu, Xu-Yang
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2015, 8 (05): : 7419 - 7424
12345