Classifying of Arrhythmogenic Cardiomyopathy-Linked Desmoplakin Variants through Molecular Mechanisms of Pathogenicity

被引:0
|
作者
Stevens, Tyler L. [1 ]
Manring, Heather [1 ]
Albertelli, Taylor [2 ]
Ng, Ronald [3 ]
Wright, Nathan T. [2 ]
Campbell, Stuart [3 ]
Ackermann, Maegen [1 ]
机构
[1] Ohio State Univ, Physiol & Cell Biol, Columbus, OH 43210 USA
[2] James Madison Univ, Chem & Biochem, Harrisonburg, VA 22807 USA
[3] Yale Univ, Biomed Engn, New Haven, CT USA
关键词
D O I
10.1016/j.bpj.2018.11.1018
中图分类号
Q6 [生物物理学];
学科分类号
071011 ;
摘要
906-Pos
引用
收藏
页码:183A / 183A
页数:1
相关论文
共 44 条
  • [31] Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants
    Carruth, Eric D.
    Beer, Dominik
    Alsaid, Amro
    Schwartz, Marci L. B.
    McMinn, Megan
    Kelly, Melissa A.
    Buchanan, Adam H.
    Nevius, Christopher D.
    Calkins, Hugh
    James, Cynthia A.
    Murray, Brittney
    Tichnell, Crystal
    Matsumura, Martin E.
    Kirchner, H. Lester
    Fornwalt, Brandon K.
    Sturm, Amy C.
    Haggerty, Christopher M.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2021, 14 (02): : 201 - 212
  • [32] PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants
    Clausen, Lene
    Okarmus, Justyna
    Voutsinos, Vasileios
    Meyer, Morten
    Lindorff-Larsen, Kresten
    Hartmann-Petersen, Rasmus
    CELLULAR AND MOLECULAR LIFE SCIENCES, 2024, 81 (01)
  • [33] Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
    Sacristan-Reviriego, Almudena
    Le, Hoang Mai
    Georgiou, Michalis
    Meunier, Isabelle
    Bocquet, Beatrice
    Roux, Anne-Francoise
    Prodromou, Chrisostomos
    Bainbridge, James
    Michaelides, Michel
    van der Spuy, Jacqueline
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [34] Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
    Almudena Sacristan-Reviriego
    Hoang Mai Le
    Michalis Georgiou
    Isabelle Meunier
    Beatrice Bocquet
    Anne-Françoise Roux
    Chrisostomos Prodromou
    James Bainbridge
    Michel Michaelides
    Jacqueline van der Spuy
    Scientific Reports, 10
  • [35] Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome
    Ukita, Nao
    Ogawa, Takuya
    Yamada, Mamiko
    Takeuchi, Chisen
    Kosaki, Kenjiro
    Moriyama, Keiji
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025,
  • [36] Molecular Mechanisms Involved in Cardioskeletal Dysfunction Caused by Mutations in Myosin RLC Linked to Hypertrophic Cardiomyopathy
    Szczesna-Cordary, Danuta
    Yuan, Chen-Ching
    Kazmierczak, Katarzyna
    Zhou, Zhiqun
    Liang, Jingsheng
    Yadav, Sunil
    Irving, Thomas C.
    Cheah, Jenice X.
    Gomes, Aldrin V.
    BIOPHYSICAL JOURNAL, 2017, 112 (03) : 558A - 558A
  • [37] Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population
    Carruth, Eric D.
    Qureshi, Maria
    Alsaid, Amro
    Kelly, Melissa A.
    Calkins, Hugh
    Murray, Brittney
    Tichnell, Crystal
    Sturm, Amy C.
    Baras, Aris
    Kirchner, H. Lester
    Fornwalt, Brandon K.
    James, Cynthia A.
    Haggerty, Christopher M.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2022, 15 (04): : 278 - 286
  • [38] Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
    Amir Ghaffari Jolfayi
    Erfan Kohansal
    Serwa Ghasemi
    Niloofar Naderi
    Mahshid Hesami
    MohammadHossein MozafaryBazargany
    Maryam Hosseini Moghadam
    Amir Farjam Fazelifar
    Majid Maleki
    Samira Kalayinia
    Scientific Reports, 14
  • [39] Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
    Jolfayi, Amir Ghaffari
    Kohansal, Erfan
    Ghasemi, Serwa
    Naderi, Niloofar
    Hesami, Mahshid
    Mozafarybazargany, Mohammadhossein
    Moghadam, Maryam Hosseini
    Fazelifar, Amir Farjam
    Maleki, Majid
    Kalayinia, Samira
    SCIENTIFIC REPORTS, 2024, 14 (01)
  • [40] Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction
    Enomoto, Hirokazu
    Mittal, Nishant
    Inomata, Takayuki
    Arimura, Takuro
    Izumi, Tohru
    Kimura, Akinori
    Fukuda, Keiichi
    Makino, Shinji
    CARDIOVASCULAR RESEARCH, 2021, 117 (04) : 1118 - 1131