Exercise: A Risky Subject in Arrhythmogenic Cardiomyopathy

Autor: Marina Cerrone

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 7, Iss 12 (2018)

Externí odkaz: https://doaj.org/article/8b083b659e2d4dfba49133796cd4dc8b

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

Autor: Pantou, Malena P.¹ (AUTHOR) pantou@ocsc.gr, Gourzi, Polyxeni¹ (AUTHOR), Vlagkouli, Vasiliki² (AUTHOR), Papatheodorou, Efstathios² (AUTHOR), Tsoutsinos, Alexandros³ (AUTHOR), Nyktari, Eva⁴ (AUTHOR), Degiannis, Dimitrios¹ (AUTHOR), Anastasakis, Aris² (AUTHOR)

Publikováno v: BMC Medical Genomics. 8/14/2023, Vol. 16 Issue 1, p1-8. 8p.

Alteration in tyrosine phosphorylation of cardiac proteome and EGFR pathway contribute to hypertrophic cardiomyopathy.

Autor: Xu, Mingguo^1,2 (AUTHOR), Bermea, Kevin C.¹ (AUTHOR), Ayati, Marzieh³ (AUTHOR), Kim, Han Byeol⁴ (AUTHOR), Yang, Xiaomei⁵ (AUTHOR), Medina, Andres⁶ (AUTHOR), Fu, Zongming⁷ (AUTHOR), Heravi, Amir¹ (AUTHOR), Zhang, Xinyu⁸ (AUTHOR), Na, Chan Hyun^4,9 (AUTHOR), Everett, Allen D.¹ (AUTHOR), Gabrielson, Kathleen¹⁰ (AUTHOR), Foster, D. Brian¹¹ (AUTHOR), Paolocci, Nazareno^11,12 (AUTHOR), Murphy, Anne M.¹ (AUTHOR) murphy@jhmi.edu, Ramirez-Correa, Genaro A.^1,6 (AUTHOR) genaro.ramirezcorrea@utrgv.edu

Publikováno v: Communications Biology. 11/15/2022, Vol. 5 Issue 1, p1-17. 17p.

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.

Autor: Vahlquist, A.¹, Virtanen, M.¹, Hellström‐Pigg, M.², Dragomir, A.², Ryberg, K.³, Wilson, N. J.⁴, Östman‐Smith, I.⁵, Lu, L.⁶, McGrath, J. A.⁷, Smith, F. J. D.⁴

Publikováno v: Clinical & Experimental Dermatology. Jan2014, Vol. 39 Issue 1, p30-34. 5p.

Alterations of protein expression of phospholamban, ZASP and plakoglobin in human atria in subgroups of seniors

Autor: Gergs, Ulrich, Mangold, Winnie, Langguth, Frank, Hatzfeld, Mechthild, Hauptmann, Steffen, Bushnaq, Hasan, Simm, Andreas, Silber, Rolf-Edgar, Neumann, Joachim

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports

The mature mammalian myocardium contains composite junctions (areae compositae) that comprise proteins of adherens junctions as well as desmosomes. Mutations or deficiency of many of these proteins are linked to heart failure and/or arrhythmogenic ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0534a972c2188ce504b71fde0d68f713
http://link.springer.com/article/10.1038/s41598-019-42141-w