Results 21 to 30 of about 6,762 (204)

Case report: Multiple biventricular aneurysms in arrhythmogenic cardiomyopathy

Frontiers in Cardiovascular Medicine, 2023
Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by fibro-fatty myocardial replacement and is clinically associated with malignant ventricular arrhythmias and sudden cardiac death.
Jiadong Lin, Zhijuang Lu, Mingqin Lin, Ying Wan, Jianfeng Li, Xinsheng Huang   +5 more
doaj   +1 more source

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)

Cardiogenetics, 2022
Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years.
Nosheen Reza, Alejandro de Feria, Jessica L. Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, Anjali Tiku Owens   +7 more
doaj   +1 more source

Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin [PDF]

, 1996
The cornified envelope is a layer of transglutaminase cross-linked protein that is deposited under the plasma membrane of keratinocytes in the outermost layers of the epidermis.
Dooley, TP, Hajibagheri, MAN, Watt, FM, M A Hajibagheri, Ruhrberg, C, Simon, M, F M Watt, C Ruhrberg, M Simon, T P Dooley   +9 more
core   +1 more source

Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease

Cardiogenetics, 2021
Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led ...
Joanne Simpson, Joan Anusas, Denise Oxnard, Sylvia Wright, Ruth McGowan, Caroline Coats   +5 more
doaj   +1 more source

Skin fragility, hair abnormality and pachyonychia caused by DSP mutations:a case report and literature review

Pifu-xingbing zhenliaoxue zazhi, 2022
Objective To report a case of genodermatosis featured by skin fragility, alopecia and pachyonychia, and to identify the underlying genetic basis. Methods Clinical information was collected, and peripheral blood was obtained from the patient and his ...
Huijun WANG, Zhimiao LIN
doaj   +1 more source

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant

Diagnostics, 2020
Mono-allelic dominant mutations in the desmoplakin gene (DSP) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy.
Przemysław Chmielewski, Grażyna T. Truszkowska, Piotr Kukla, Joanna Zakrzewska-Koperska, Mateusz Śpiewak, Małgorzata Stępień-Wojno, Maria Bilińska, Anna Lutyńska, Rafał Płoski, Zofia T. Bilińska   +9 more
doaj   +1 more source

Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin [PDF]

, 1997
The cornified envelope is a layer of transglutaminase cross-linked protein that is assembled under the plasma membrane of keratinocytes in the outermost layers of the epidermis.
Christiana Ruhrberg, Hajibagheri, MAN, Parry, DAD, Watt, FM, Ruhrberg, C, M.A. Nasser Hajibagheri, David A.D. Parry, Fiona M. Watt   +7 more
core   +1 more source

Intermediate filament–membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength [PDF]

, 2002
By tethering intermediate filaments (IFs) to sites of intercellular adhesion, desmosomes facilitate formation of a supercellular scaffold that imparts mechanical strength to a tissue.
Godsel, Lisa M., Hudson, TY, Green, Kathleen J., Kathleen J. Green, Gumbiner, BM, Hudson, Tracie Y., Kelsell, David P., Leigh, IM, Leigh, Irene M., Evangeline V. Amargo, Anne K. Mongiu, Huen, Arthur C., Leslie J. Bannon, Bannon, Leslie J., Mongiu, AK, David P. Kelsell, Kelsell, DP, Park, Jung K., Park, JK, Green, KJ, Huen, AC, Chen, XJ, Xuejun Chen, Bannon, LJ, Arthur C. Huen, Amargo, Evangeline V., Gumbiner, Barry M., Chen, Xuejun, Tracie Y. Hudson, Irene M. Leigh, Lisa M. Godsel, Barry M. Gumbiner, Mongiu, Anne K., Jung K. Park, Amargo, FV, Godsel, LM   +35 more
core   +1 more source

GSK3- and PRMT-1–dependent modifications of desmoplakin control desmoplakin–cytoskeleton dynamics [PDF]

Journal of Cell Biology, 2015
Intermediate filament (IF) attachment to intercellular junctions is required for skin and heart integrity, but how the strength and dynamics of this attachment are modulated during normal and pathological remodeling is poorly understood. We show that glycogen synthase kinase 3 (GSK3) and protein arginine methyltransferase 1 (PRMT-1) cooperate to ...
Albrecht, Lauren V., Zhang, Lichao, Shabanowitz, Jeffrey, Purevjav, Enkhsaikhan, Towbin, Jeffrey A., Hunt, Donald F., Green, Kathleen J.   +6 more
openaire   +2 more sources

Immunoglobulin Kappa Light Chain Produced by Cardiomyocytes and Participates in Maintaining Intercalated Disc Integrity. [PDF]

MedComm (2020)
This study identifies Igκ expression in cardiomyocytes, with predominant localization at ICDs. Cardiomyocyte‐specific Igκ knockout induces cardiac dysfunction and ICDs structural disorganization. Mechanistically, Igκ stabilizes plectin to facilitate desmin‒actin network assembly and anchor desmin to DSP, which is critical for maintaining ICDs ...
Zhu Z, Sheng Y, Chang Y, Chang Y, Xu M, Zhou W, Wang W, Liao Q, Shi Z, Zhang M, Lan F, Song J, Qiu X.   +12 more
europepmc   +2 more sources