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Items: 1 to 20 of 217

1.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles
Circ Genom Precis Med. 2023 Feb; 16(1): e003672. Published online 2022 Dec 29. doi: 10.1161/CIRCGEN.121.003672
PMCID:
PMC9946166
ArticlePDF–698K
2.
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo
Int J Mol Sci. 2023 Feb; 24(3): 2490. Published online 2023 Jan 27. doi: 10.3390/ijms24032490
PMCID:
PMC9916412
ArticlePDF–1.5M
3.
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign
V. Karvonen, L. Harjama, K. Heliö, K. Kettunen, O. Elomaa, J.W. Koskenvuo, J. Kere, S. Weckström, M. Holmström, J. Saarela, A. Ranki, T. Heliö, K. Hannula‐Jouppi
J Eur Acad Dermatol Venereol. 2022 Aug; 36(8): 1349–1358. Published online 2022 May 6. doi: 10.1111/jdv.18164
PMCID:
PMC9545885
ArticlePDF–631K
4.
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity
Mathilde C. S. C. Vermeer, Daniela Andrei, Duco Kramer, Albertine M. Nijenhuis, Yvonne M. Hoedemaekers, Helga Westers, Jan D. H. Jongbloed, Hendri H. Pas, Maarten P. van den Berg, Herman H. W. Silljé, Peter van der Meer, Maria C. Bolling
Exp Dermatol. 2022 Jun; 31(6): 970–979. Published online 2022 Apr 1. doi: 10.1111/exd.14571
PMCID:
PMC9322008
ArticlePDF–25M
5.
Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy
Vincent Chen, Bradley P Knight, Elizabeth M McNally
Eur Heart J Case Rep. 2022 Mar; 6(3): ytac105. Published online 2022 Mar 21. doi: 10.1093/ehjcr/ytac105
PMCID:
PMC9026210
ArticlePDF–1.2M
6.
Bidirectional regulation of desmosome hyperadhesion by keratin isotypes and desmosomal components
Fanny Büchau, Franziska Vielmuth, Jens Waschke, Thomas M. Magin
Cell Mol Life Sci. 2022; 79(5): 223. Published online 2022 Apr 5. doi: 10.1007/s00018-022-04244-y
PMCID:
PMC8983532
ArticlePDF–8.6M
7.
Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)
Nosheen Reza, Alejandro de Feria, Jessica L. Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, Anjali Tiku Owens
Cardiogenetics. Author manuscript; available in PMC 2022 Mar 1.
Published in final edited form as: Cardiogenetics. 2022 Mar; 12(1): 24–36. Published online 2022 Jan 6. doi: 10.3390/cardiogenetics12010003
PMCID:
PMC8785953
ArticlePDF–1.1M
8.
Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function
Fiyaz Mohammed, Elena Odintsova, Martyn Chidgey
Int J Mol Sci. 2022 Jan; 23(1): 529. Published online 2022 Jan 4. doi: 10.3390/ijms23010529
PMCID:
PMC8745463
ArticlePDF–2.9M
9.
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene
Wolfgang Poller, Jan Haas, Karin Klingel, Jirko Kühnisch, Martina Gast, Ziya Kaya, Felicitas Escher, Elham Kayvanpour, Franziska Degener, Bernd Opgen‐Rhein, Felix Berger, Hans‐Christian Mochmann, Carsten Skurk, Bettina Heidecker, Heinz‐Peter Schultheiss, Lorenzo Monserrat, Benjamin Meder, Ulf Landmesser, Sabine Klaassen
J Am Heart Assoc. 2020 May 18; 9(10): e015289. Published online 2020 May 15. doi: 10.1161/JAHA.119.015289
PMCID:
PMC7660888
ArticlePDF–2.8M
10.
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy
Eric D Smith, Neal K Lakdawala, Nikolaos Papoutsidakis, Gregory Aubert, Andrea Mazzanti, Anthony C McCanta, Prachi P Agarwal, Patricia Arscott, Lisa M Dellefave-Castillo, Esther E Vorovich, Kavitha Nutakki, Lisa D Wilsbacher, Silvia G Priori, Daniel L Jacoby, Elizabeth M McNally, Adam S Helms
Circulation. Author manuscript; available in PMC 2021 Jun 9.
Published in final edited form as: Circulation. 2020 Jun 9; 141(23): 1872–1884. Published online 2020 May 6. doi: 10.1161/CIRCULATIONAHA.119.044934
PMCID:
PMC7286080
ArticlePDF–711K
11.
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents
Elizabeth S. DeWitt, Stephanie F. Chandler, Robyn J. Hylind, Virginie Beausejour Ladouceur, Elizabeth D. Blume, Christina VanderPluym, Andrew J. Powell, Francis Fynn-Thompson, Amy E. Roberts, Stephen P. Sanders, Vassilios Bezzerides, Neal K. Lakdawala, Calum A. MacRae, Dominic J. Abrams
J Am Coll Cardiol. Author manuscript; available in PMC 2020 Jul 23.
Published in final edited form as: J Am Coll Cardiol. 2019 Jul 23; 74(3): 346–358. doi: 10.1016/j.jacc.2019.05.022
PMCID:
PMC7261020
ArticlePDF–1.6M
12.
Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy
Xiaoping Lin, Yuankun Ma, Zhejun Cai, Qiyuan Wang, Lihua Wang, Zhaoxia Huo, Dan Hu, Jian’an Wang, Meixiang Xiang
BMC Cardiovasc Disord. 2020; 20: 74. Published online 2020 Feb 11. doi: 10.1186/s12872-020-01369-5
PMCID:
PMC7011609
ArticlePDF–2.2M
13.
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo
BMC Med Genet. 2020; 21: 19. Published online 2020 Jan 31. doi: 10.1186/s12881-020-0955-z
PMCID:
PMC6995042
ArticlePDF–960K
14.
Nuclear localization of Desmoplakin and its involvement in telomere maintenance
Peipei Li, Yuan Meng, Yuan Wang, Jingjing Li, Manting Lam, Li Wang, Li-jun Di
Int J Biol Sci. 2019; 15(11): 2350–2362. Published online 2019 Aug 24. doi: 10.7150/ijbs.34450
PMCID:
PMC6775319
ArticlePDF–1.8M
15.
Genetic Risk of Arrhythmic Phenotypes in Patients with Dilated Cardiomyopathy
Marta Gigli, Marco Merlo, Sharon Graw, Giulia Barbati, Teisha Rowland, Dobromir Slavov, Davide Stolfo, Mary E Sweet, Matteo Dal Ferro, Alessandro Altinier, Federica Ramani, Francesca Brun, Andrea Cocciolo, Ilaria Puggia, Gaetano Morea, William J McKenna, Francisco G. La Rosa, Matthew RG Taylor, Gianfranco Sinagra, Luisa Mestroni
J Am Coll Cardiol. Author manuscript; available in PMC 2020 Sep 17.
Published in final edited form as: J Am Coll Cardiol. 2019 Sep 17; 74(11): 1480–1490. doi: 10.1016/j.jacc.2019.06.072
PMCID:
PMC6750731
ArticlePDF–1.1M
16.
Desmoplakin harnesses Rho GTPase and p38 MAPK signaling to coordinate cellular migration.
Jacqueline L. Bendrick, Luke A. Eldredge, Erica I. Williams, Nick B. Haight, Adi D. Dubash
J Invest Dermatol. Author manuscript; available in PMC 2020 Jun 1.
Published in final edited form as: J Invest Dermatol. 2019 Jun; 139(6): 1227–1236. Published online 2018 Dec 20. doi: 10.1016/j.jid.2018.11.032
PMCID:
PMC6535125
ArticlePDF–2.6M
17.
Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype
T. Maruthappu, A. Posafalvi, S. Castelletti, P.J. Delaney, P. Syrris, E.A. O’Toole, K.J. Green, P.M. Elliott, P.D. Lambiase, A. Tinker, W.J. McKenna, D.P. Kelsell
Br J Dermatol. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Br J Dermatol. 2019 May; 180(5): 1114–1122. Published online 2019 Jan 2. doi: 10.1111/bjd.17388
PMCID:
PMC6318013
ArticlePDF–1.5M
18.
ERS Special Article.
Reversing Mechanoinductive DSP Expression by CRISPR/dCas9–mediated Epigenome Editing
Jing Qu, Lanyan Zhu, Zijing Zhou, Ping Chen, Shuyan Liu, Morgan L. Locy, Victor J. Thannickal, Yong Zhou
Am J Respir Crit Care Med. 2018 Sep 1; 198(5): 599–609. Published online 2018 Sep 1. doi: 10.1164/rccm.201711-2242OC
PMCID:
PMC6118013
ArticlePDF–1.2M
19.
Identification of rare variants of DSP gene in Sudden Unexplained Nocturnal Death Syndrome in the southern Chinese Han population
Qianhao Zhao, Yili Chen, Longlun Peng, Rui Gao, Nian Liu, Pingping Jiang, Chao Liu, Shuangbo Tang, Li Quan, Jonathan C. Makielski, Jianding Cheng
Int J Legal Med. Author manuscript; available in PMC 2016 Jul 19.
Published in final edited form as: Int J Legal Med. 2016 Mar; 130(2): 317–322. Published online 2015 Nov 19. doi: 10.1007/s00414-015-1275-2
PMCID:
PMC4951159
ArticlePDF–124K
20.
Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis
Susan K. Mathai, Brent S. Pedersen, Keith Smith, Pamela Russell, Marvin I. Schwarz, Kevin K. Brown, Mark P. Steele, James E. Loyd, James D. Crapo, Edwin K. Silverman, Deborah Nickerson, Tasha E. Fingerlin, Ivana V. Yang, David A. Schwartz
Am J Respir Crit Care Med. 2016 May 15; 193(10): 1151–1160. Published online 2016 May 15. doi: 10.1164/rccm.201509-1863OC
PMCID:
PMC4872666
ArticlePDF–1.2M

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