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Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies.
Paldino A, Dal Ferro M, Stolfo D, Gandin I, Medo K, Graw S, Gigli M, Gagno G, Zaffalon D, Castrichini M, Masè M, Cannatà A, Brun F, Storm G, Severini GM, Lenarduzzi S, Girotto G, Gasparini P, Bortolotti F, Giacca M, Zacchigna S, Merlo M, Taylor MRG, Mestroni L, Sinagra G. Paldino A, et al. J Am Coll Cardiol. 2022 Nov 22;80(21):1981-1994. doi: 10.1016/j.jacc.2022.08.804. J Am Coll Cardiol. 2022. PMID: 36396199 Free PMC article.
RESULTS: Survival analysis revealed that SCD/MVA events occurred more frequently in patients without a DCM phenotype and in carriers of DSP, PKP2, LMNA, and FLNC variants. However, after adjustment for age and sex, genotype-based classification, but not phenotype-based cla …
RESULTS: Survival analysis revealed that SCD/MVA events occurred more frequently in patients without a DCM phenotype and in carriers of DSP, …
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS. Smith ED, et al. Circulation. 2020 Jun 9;141(23):1872-1884. doi: 10.1161/CIRCULATIONAHA.119.044934. Epub 2020 May 6. Circulation. 2020. PMID: 32372669 Free PMC article.
METHODS: Clinical and genetic data were collected on 107 patients with pathogenic DSP mutations and 81 patients with pathogenic plakophilin 2 (PKP2) mutations as a comparison cohort. A composite outcome of severe ventricular arrhythmia was assessed. ...Left v …
METHODS: Clinical and genetic data were collected on 107 patients with pathogenic DSP mutations and 81 patients with pathogenic plakophil
Loss of Nuclear Envelope Integrity and Increased Oxidant Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular Substrate of ARVC.
Pérez-Hernández M, van Opbergen CJM, Bagwan N, Vissing CR, Marrón-Liñares GM, Zhang M, Torres Vega E, Sorrentino A, Drici L, Sulek K, Zhai R, Hansen FB, Christensen AH, Boesgaard S, Gustafsson F, Rossing K, Small EM, Davies MJ, Rothenberg E, Sato PY, Cerrone M, Jensen THL, Qvortrup K, Bundgaard H, Delmar M, Lundby A. Pérez-Hernández M, et al. Circulation. 2022 Sep 13;146(11):851-867. doi: 10.1161/CIRCULATIONAHA.122.060454. Epub 2022 Aug 12. Circulation. 2022. PMID: 35959657 Free PMC article.
More than 40% of reported genetic variants linked to ARVC reside in the PKP2 gene, which encodes the PKP2 protein (plakophilin-2). METHODS: We describe a comprehensive characterization of the ARVC molecular landscape as determined by high-resolution ma …
More than 40% of reported genetic variants linked to ARVC reside in the PKP2 gene, which encodes the PKP2 protein (plakophi
MYH10 activation rescues contractile defects in arrhythmogenic cardiomyopathy (ACM).
García-Quintáns N, Sacristán S, Márquez-López C, Sánchez-Ramos C, Martinez-de-Benito F, Siniscalco D, González-Guerra A, Camafeita E, Roche-Molina M, Lytvyn M, Morera D, Guillen MI, Sanguino MA, Sanz-Rosa D, Martín-Pérez D, Garcia R, Bernal JA. García-Quintáns N, et al. Nat Commun. 2023 Oct 13;14(1):6461. doi: 10.1038/s41467-023-41981-5. Nat Commun. 2023. PMID: 37833253 Free PMC article.
The most prevalent genetic form of inherited arrhythmogenic cardiomyopathy (ACM) is caused by mutations in desmosomal plakophilin-2 (PKP2). By studying pathogenic deletion mutations in the desmosomal protein PKP2, here we identify a general mechanism b …
The most prevalent genetic form of inherited arrhythmogenic cardiomyopathy (ACM) is caused by mutations in desmosomal plakophilin- …
Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence.
Lluch A, Latorre J, Serena-Maione A, Espadas I, Caballano-Infantes E, Moreno-Navarrete JM, Oliveras-Cañellas N, Ricart W, Malagón MM, Martin-Montalvo A, Birchmeier W, Szymanski W, Graumann J, Gómez-Serrano M, Sommariva E, Fernández-Real JM, Ortega FJ. Lluch A, et al. Nat Commun. 2023 Aug 22;14(1):5106. doi: 10.1038/s41467-023-40596-0. Nat Commun. 2023. PMID: 37607954 Free PMC article.
Plakophilin-2 (PKP2) is a key component of desmosomes, which, when defective, is known to promote the fibro-fatty infiltration of heart muscle. ...Our findings connect the expression of PKP2 in fat cells to the physiopathology of obesity, as well as un
Plakophilin-2 (PKP2) is a key component of desmosomes, which, when defective, is known to promote the fibro-fatty infil
Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene.
Bekhite MM, Hübner S, Kretzschmar T, Backsch C, Weise A, Klein E, Bogoviku J, Westphal J, Christian Schulze P. Bekhite MM, et al. Stem Cell Res. 2024 Dec;81:103565. doi: 10.1016/j.scr.2024.103565. Epub 2024 Sep 21. Stem Cell Res. 2024. PMID: 39332132 Free article.
To better study disease pathways in vitro, we generated human induced pluripotent stem cell (hiPSC) lines from the father (UKJi006-A) and son (UKJi001-A), who both shared the same heterozygous mutation in the PKP2 gene (OMIM *602861). While the father had a clinical diagno …
To better study disease pathways in vitro, we generated human induced pluripotent stem cell (hiPSC) lines from the father (UKJi006-A) and so …
Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy.
Tsui H, van Kampen SJ, Han SJ, Meraviglia V, van Ham WB, Casini S, van der Kraak P, Vink A, Yin X, Mayr M, Bossu A, Marchal GA, Monshouwer-Kloots J, Eding J, Versteeg D, de Ruiter H, Bezstarosti K, Groeneweg J, Klaasen SJ, van Laake LW, Demmers JAA, Kops GJPL, Mummery CL, van Veen TAB, Remme CA, Bellin M, van Rooij E. Tsui H, et al. Sci Transl Med. 2023 Mar 22;15(688):eadd4248. doi: 10.1126/scitranslmed.add4248. Epub 2023 Mar 22. Sci Transl Med. 2023. PMID: 36947592
Many patients with ACM harbor mutations in desmosomal genes, predominantly in plakophilin-2 (PKP2). Although the genetic basis of ACM is well characterized, the underlying disease-driving mechanisms remain unresolved. ...Additional proteomics analyses identif …
Many patients with ACM harbor mutations in desmosomal genes, predominantly in plakophilin-2 (PKP2). Although the geneti …
Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics.
Bradford WH, Zhang J, Gutierrez-Lara EJ, Liang Y, Do A, Wang TM, Nguyen L, Mataraarachchi N, Wang J, Gu Y, McCulloch A, Peterson KL, Sheikh F. Bradford WH, et al. Nat Cardiovasc Res. 2023 Dec;2(12):1246-1261. doi: 10.1038/s44161-023-00370-3. Epub 2023 Dec 7. Nat Cardiovasc Res. 2023. PMID: 39196150 Free PMC article.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic heart disease characterized by cardiac arrhythmias, in which fibrofatty deposition leads to heart failure, with no effective treatments. Plakophilin 2 (PKP2) is the most frequently muta …
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic heart disease characterized by cardiac arrhythmias, in which fibro …
Generation of CRISPR/Cas9 edited human induced pluripotent stem cell line carrying the heterozygous p.H695VfsX5 frameshift mutation in the exon 10 of the PKP2 gene.
Pierre B, Laëtitia DB, Camille B, Claire P, Elise B, Estelle G, Vincent F, Eric V. Pierre B, et al. Stem Cell Res. 2024 Apr;76:103341. doi: 10.1016/j.scr.2024.103341. Epub 2024 Feb 13. Stem Cell Res. 2024. PMID: 38382214 Free article.
Loss-of-function mutations in the PKP2 gene are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare cardiac disease associated with a poor prognosis. ...We also showed that PKP2 protein was expressed at the plasma membrane, with an overall …
Loss-of-function mutations in the PKP2 gene are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare cardia …
70 results