Overlapping phenotype of cardiomyopathy associated with lamine (LMNA AlC) gene mutation

被引:0
|
作者
Vaikhanskaya, T. Tatiyana [1 ]
Kurushka, T. V. [1 ]
Sivitskaya, L. N. [2 ]
Danilenko, N. G. [2 ]
Sidorenko, I. V. [1 ]
机构
[1] Republican Sci & Pract Ctr Cardiol, Minsk, BELARUS
[2] Natl Acad Sci, Inst Cytol & Genet, Minsk, BELARUS
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
115
引用
收藏
页码:23 / 23
页数:1
相关论文
共 50 条
  • [31] Dual Specificity Phosphatase 4 Mediates Cardiomyopathy Caused by Lamin A/C (LMNA) Gene Mutation
    Choi, Jason C.
    Wu, Wei
    Muchir, Antoine
    Iwata, Shinichi
    Homma, Shunichi
    Worman, Howard J.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2012, 287 (48) : 40513 - 40524
  • [32] LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype
    Klupa, Tomasz
    Szopa, Magdalena
    Skupien, Jan
    Wojtyczek, Katarzyna
    Cyganek, Katarzyna
    Kowalska, Irina
    Malecki, Maciej T.
    ENDOCRINE, 2009, 36 (03) : 518 - 523
  • [33] LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype
    Klupa, T.
    Szopa, M.
    Skupien, J.
    Wojtyczek, K.
    Cyganek, K.
    Kowalska, I.
    Malecki, M. T.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2010, 40 : 79 - 80
  • [34] LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype
    Tomasz Klupa
    Magdalena Szopa
    Jan Skupien
    Katarzyna Wojtyczek
    Katarzyna Cyganek
    Irina Kowalska
    Maciej T. Malecki
    Endocrine, 2009, 36 : 518 - 523
  • [35] A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy
    Araujo-Vilar, David
    Lado-Abeal, Joaquin
    Palos-Paz, Fernando
    Lattanzi, Giovanna
    Bandin, Manuel A.
    Bellido, Diego
    Dominguez-Gerpe, Lourdes
    Calvo, Carlos
    Perez, Oscar
    Ramazanova, Alia
    Martinez-Sanchez, Noelia
    Victoria, Berta
    Costa-Freitas, Ana Teresa
    CLINICAL ENDOCRINOLOGY, 2008, 69 (01) : 61 - 68
  • [36] Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy
    Jaecheol Lee
    Vittavat Termglinchan
    Sebastian Diecke
    Ilanit Itzhaki
    Chi Keung Lam
    Priyanka Garg
    Edward Lau
    Matthew Greenhaw
    Timon Seeger
    Haodi Wu
    Joe Z. Zhang
    Xingqi Chen
    Isaac Perea Gil
    Mohamed Ameen
    Karim Sallam
    June-Wha Rhee
    Jared M. Churko
    Rinkal Chaudhary
    Tony Chour
    Paul J. Wang
    Michael P. Snyder
    Howard Y. Chang
    Ioannis Karakikes
    Joseph C. Wu
    Nature, 2019, 572 : 335 - 340
  • [37] Dilated cardiomyopathy due to novel LMNA mutation: a case report
    Patel, Riddhi
    Patel, Raj
    Patel, Ekta
    Patel, Mehul
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2024, 11
  • [38] Case report of familial dilated cardiomyopathy caused by LMNA mutation
    Yermakovich, D. P.
    Sivitskaya, L. N.
    Vaikhanskaya, T. G.
    Liaudanski, A. D.
    Kurushka, T. V.
    Danilenko, N. G.
    Davydenko, O. G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 920 - 920
  • [39] Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy
    Lee, Jaecheol
    Termglinchan, Vittavat
    Diecke, Sebastian
    Itzhaki, Ilanit
    Lam, Chi Keung
    Garg, Priyanka
    Lau, Edward
    Greenhaw, Matthew
    Seeger, Timon
    Wu, Haodi
    Zhang, Joe Z.
    Chen, Xingqi
    Gil, Isaac Perea
    Ameen, Mohamed
    Sallam, Karim
    Rhee, June-Wha
    Churko, Jared M.
    Chaudhary, Rinkal
    Chour, Tony
    Wang, Paul J.
    Snyder, Michael P.
    Chang, Howard Y.
    Karakikes, Ioannis
    Wu, Joseph C.
    NATURE, 2019, 572 (7769) : 335 - +
  • [40] Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy
    Luo, Xiang
    Jia, Hao
    Wang, Fang
    Mo, Han
    Kang, Yu
    Zhang, Ningning
    Zhao, Lu
    Xu, Lizhu
    Yang, Zhengsheng
    Yang, Qiaoyan
    Chang, Yuan
    Li, Shulin
    Bian, Ning
    Hua, Xiumeng
    Cui, Hao
    Cao, Yu
    Chu, Chu
    Zeng, Yuqiang
    Chen, Xinglong
    Chen, Zhigang
    Ji, Weizhi
    Long, Chengzu
    Song, Jiangping
    Niu, Yuyu
    JACC-BASIC TO TRANSLATIONAL SCIENCE, 2024, 9 (03): : 380 - 395