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2024 28
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FTO-mediated DSP m(6)A demethylation promotes an aggressive subtype of growth hormone-secreting pituitary neuroendocrine tumors.
Zou Y, Bao X, Li D, Ye Z, Xiang R, Yang Y, Zhu Z, Chen Z, Zeng L, Xue C, Zhao H, Yao B, Zhang Q, Yan Z, Deng Z, Cheng J, Yue G, Hu W, Zhao J, Bai R, Zhang Z, Liu A, Zhang J, Zuo Z, Jiang X. Zou Y, et al. Mol Cancer. 2024 Sep 20;23(1):205. doi: 10.1186/s12943-024-02117-5. Mol Cancer. 2024. PMID: 39304899 Free PMC article.
Mechanically, FTO-mediated m(6)A demethylation destabilizes desmoplakin (DSP) mRNA, mediated by the m(6)A reader FMR1, leading to prohibited desmosome integrity and enhanced tumor hypoxia tolerance. ...
Mechanically, FTO-mediated m(6)A demethylation destabilizes desmoplakin (DSP) mRNA, mediated by the m(6)A reader FMR1, leading to pro …
NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.
Tsatsopoulou A, Abrams DJ, Anastasakis A, Antoniades L, Arbelo E, Arbustini E, Ashley EA, Asimaki A, Basso C, Bossone E, Cadrin-Turigny J, Calkins H, Carbone A, Elliott PM, Efthimiadis G, Franzese M, Frogoudaki A, Gimeno JR, McGrath J, Ingles J, Kaski JP, Keren A, Kohiadakis G, Lazarou E, Lazaros G, Lerakis S, Limongelli G, Meditskou S, Mestroni L, Metaxa I, Monda E, Papatheodorou E, Parharidou D, Patrianakos A, Pilichou K, Protonotarios A, Protonotarios I, Rega S, Rigopoulos A, Saffitz J, Syrris P, Taylor M, Peter van Tintelen J, Vlachopoulos C, Xylouri Z, McKenna WJ. Tsatsopoulou A, et al. Hellenic J Cardiol. 2026 Jan-Feb;87:147-159. doi: 10.1016/j.hjc.2025.04.004. Epub 2025 Apr 30. Hellenic J Cardiol. 2026. PMID: 40316016 Free article. Review.
Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.
Badowski C, Benny P, Verma CS, Lane EB. Badowski C, et al. Sci Rep. 2024 Oct 5;14(1):23206. doi: 10.1038/s41598-024-73705-0. Sci Rep. 2024. PMID: 39369039 Free PMC article.
It can be induced by different types of mutations throughout the desmoplakin gene including the R2834H mutation in the extreme carboxyterminus tail of desmoplakin (DP CT) which remains structurally uncharacterized and poorly understood. ...However, by preventing PTM …
It can be induced by different types of mutations throughout the desmoplakin gene including the R2834H mutation in the extreme carbox …
Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA. Gasperetti A, et al. Eur Heart J. 2025 Jan 21;46(4):362-376. doi: 10.1093/eurheartj/ehae571. Eur Heart J. 2025. PMID: 39288222 Free PMC article.
BACKGROUND AND AIMS: Pathogenic variants in the desmoplakin (DSP) gene are associated with the development of a distinct arrhythmogenic cardiomyopathy phenotype not fully captured by either dilated cardiomyopathy (DCM), non-dilated left ventricular cardiomyopathy (NDLVC), …
BACKGROUND AND AIMS: Pathogenic variants in the desmoplakin (DSP) gene are associated with the development of a distinct arrhythmogen …
Transcriptome analysis of archived tumors by Visium, GeoMx DSP, and Chromium reveals patient heterogeneity.
Dong Y, Saglietti C, Bayard Q, Espin Perez A, Carpentier S, Buszta D, Tissot S, Dubois R, Kamburov A, Kang S, Haignere C, Sarkis R, Andre S, Alexandre Gaveta M, Lopez Lastra S, Piazzon N, Santos R, von Loga K, Hoffmann C, Coukos G, Peters S, Soumelis V, Durand EY, de Leval L, Gottardo R, Homicsko K, Madissoon E. Dong Y, et al. Nat Commun. 2025 May 12;16(1):4400. doi: 10.1038/s41467-025-59005-9. Nat Commun. 2025. PMID: 40355415 Free PMC article.
Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression.
Foco L, De Bortoli M, Del Greco M F, Frommelt LS, Volani C, Riekschnitz DA, Motta BM, Fuchsberger C, Delerue T, Völker U, Huan T, Gögele M, Winkelmann J, Dörr M, Levy D, Waldenberger M, Teumer A, Pramstaller PP, Rossini A, Pattaro C. Foco L, et al. Hum Genet. 2025 Aug;144(8):843-860. doi: 10.1007/s00439-025-02761-x. Epub 2025 Jul 30. Hum Genet. 2025. PMID: 40736537 Free PMC article.
We tested associations between genotype imputed variants covering the five desmosomal genes Desmoplakin (DSP), junction plakoglobin (JUP), plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocollin 2 (DSC2), and P-wave, PR, QRS, and QT electrocardiographic intervals, using …
We tested associations between genotype imputed variants covering the five desmosomal genes Desmoplakin (DSP), junction plakoglobin ( …
A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.
Carrick RT, Gasperetti A, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Dooijes D, Syrris P, Cannie D, Tichnell C, Gilotra NA, Cappelletto C, Medo K, Saguner AM, Duru F, Hylind RJ, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Compagnucci P, Casella M, Conte G, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Schulze-Bahr E, Dittman S, Carruth ED, Young K, Qureshi M, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott P, Calkins H, Wu KC, James CA. Carrick RT, et al. Eur Heart J. 2024 Aug 21;45(32):2968-2979. doi: 10.1093/eurheartj/ehae409. Eur Heart J. 2024. PMID: 39011630 Free PMC article.
BACKGROUND AND AIMS: Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form of arrhythmogenic cardiomyopathy known as DSP cardiomyopathy. ...METHODS: Patients from the multi-national DSP-ERADOS (Desmoplakin SPecific Effort …
BACKGROUND AND AIMS: Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form of arrhythmoge …
Imaging features of desmoplakin arrhythmogenic cardiomyopathy: A comparative cardiovascular magnetic resonance study.
Laredo M, Charpentier E, Soulez S, Nguyen V, Martino A, Calò L, Ader F, Hermida A, Fressart V, Charron P, Kachenoura N, Gandjbakhch E, Redheuil A. Laredo M, et al. J Cardiovasc Magn Reson. 2025 Summer;27(1):101867. doi: 10.1016/j.jocmr.2025.101867. Epub 2025 Feb 26. J Cardiovasc Magn Reson. 2025. PMID: 40021092 Free PMC article.
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) related to Desmoplakin (DSP) mutations is a distinct condition associated with particularly severe outcomes, more frequent left ventricular (LV) involvement, including fibrosis, dysfunction, and inflammatory episodes. ...
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) related to Desmoplakin (DSP) mutations is a distinct condition associated with partic …
Desmoplakin Cardiomyopathy: Role of Inflammation and Potential Role of Disease-Modifying Therapies.
Gasperetti A, Carrick RT, Muller S, Murray B, Adamo L, Bauce B, McNally E, Helms A. Gasperetti A, et al. Curr Cardiol Rep. 2025 Jan 9;27(1):12. doi: 10.1007/s11886-024-02183-7. Curr Cardiol Rep. 2025. PMID: 39786454 Review.
PURPOSE OF REVIEW: To summarize the available data on the use of immunosuppression therapies for the management of hot phases of disease and recurrent myocarditis in patients with desmoplakin cardiomyopathy (DSP-CMP). RECENT FINDINGS: Occurrence of myocarditis episodes has …
PURPOSE OF REVIEW: To summarize the available data on the use of immunosuppression therapies for the management of hot phases of disease and …
Hot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies.
Bassetto G, Angriman F, Gava CPLD, Paldino A, Perotto M, Bordignon L, Gigli M, Ferro MD, Massa L, Altinier A, De Luca A, Sinagra G, Merlo M. Bassetto G, et al. Curr Cardiol Rep. 2025 Jan 9;27(1):11. doi: 10.1007/s11886-024-02168-6. Curr Cardiol Rep. 2025. PMID: 39786662 Free PMC article. Review.
RECENT FINDINGS: Hot phases have been linked to genetic mutations, particularly in desmosomal proteins such as Desmoplakin (DSP). Diagnostic challenges include differentiating hot phases from isolated acute myocarditis, through identification of red flags and a multimodal …
RECENT FINDINGS: Hot phases have been linked to genetic mutations, particularly in desmosomal proteins such as Desmoplakin (DSP). Dia …
78 results