The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Regulatory mutations in transforming growth factor-?3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
Open accessAbstract
OBJECTIVE: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous disorder characterized by fibro-fatty replacement of the right ventricular myocardium, associated with high risk of sudden death. The objective of this study is to identify the gene involved in ARVD1, which has been elusive ever since its locus was mapped to chromosome 14q24.3. METHODS AND RESULTS: Mutation screening of the promoter and untranslated regions (UTRs) of the transforming growth factor-beta3 (TGFbeta3) gene was performed by direct sequencing of genomic DNA of one index case belonging to an ARVD1 family including 38 members in four generations. We detected a nucleotide substitution (c.-36G>A) in 5' UTR of TGFbeta3 gene, invariably associated with the typical ARVC clinical phenotype in the affected family members, according to the established diagnostic criteria. Investigation extended to 30 unrelated ARVC patients, performed by denaturing high-performance liquid chromatography (DHPLC), led to the identification of an additional mutation (c.1723C>T) in the 3' UTR of one proband. Neither nucleotide change was found in 300 control subjects. In vitro expression assays with constructs containing the mutations showed that mutated UTRs were twofold more active than wild-types. CONCLUSION: We identified TGFbeta3 as the disease gene involved in ARVD1. The identification of a novel ARVC gene will increase the power of the genetic screening for early diagnosis of asymptomatic carriers among relatives of ARVC patients.
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Cites
TGF-β signaling and the fibrotic response
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Self-citationGene Expression Regulation by Upstream Open Reading Frames and Human Disease
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Before It Gets Started: Regulating Translation at the 5′ UTR
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James, C. A., Jongbloed, J. D. H., Hershberger, R. E., Morales, A., Judge, D. P., Syrris, P., Pilichou, K., Domingo, A. M., Murray, B., Cadrin-Tourigny, J., et al. (2021) · Circulation: Genomic and Precision Medicine · doi:10.1161/circgen.120.003273 · Cited by 238
Martin, C. J., Datta, A., Littlefield, C., Kalra, A., Chapron, C., Wawersik, S., Dagbay, K. B., Brueckner, C. T., Nikiforov, A., Danehy, F. T., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aay8456 · Cited by 224
Chatterjee, D., Fatah, M., Akdis, D., Spears, D. A., Koopmann, T. T., Mittal, K., Rafiq, M. A., Cattanach, B. M., Zhao, Q., Healey, J. S., et al. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehy567 · Cited by 161
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Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy
Lorenzon, A., Calore, M., Poloni, G., De Windt, L. J., Braghetta, P., & Rampazzo, A. (2017) · Oncotarget · doi:10.18632/oncotarget.17457 · Cited by 64
Giuliodori, A., Beffagna, G., Marchetto, G., Fornetto, C., Vanzi, F., Toppo, S., Facchinello, N., Santimaria, M., Vettori, A., Rizzo, S., et al. (2018) · Cardiovascular Research · doi:10.1093/cvr/cvy057 · Cited by 57
Self-citationGenetics and Genomics of Single-Gene Cardiovascular Diseases
Marian, A. J., van Rooij, E., & Roberts, R. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.09.968 · Cited by 48
Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench
Peretto, G., Sommariva, E., Di Resta, C., Rabino, M., Villatore, A., Lazzeroni, D., Sala, S., Pompilio, G., & Cooper, L. T. (2023) · Biomolecules · doi:10.3390/biom13040646 · Cited by 37
Gao, S., Puthenvedu, D., Lombardi, R., & Chen, S. N. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176320 · Cited by 28
Lu, W., Li, Y., Dai, Y., & Chen, K. (2022) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.900810 · Cited by 18
Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy
Bueno-Beti, C., & Asimaki, A. (2021) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2021.746321 · Cited by 12
Peretto, G., Villatore, A., & Cooper, L. T. (2026) · Immunological Reviews · doi:10.1111/imr.70105 · Cited by 10
Metadata
- Authors
- BEFFAGNA, G., OCCHI, G., NAVA, A., VITIELLO, L., DITADI, A., BASSO, C., BAUCE, B., CARRARO, G., THIENE, G., & TOWBIN, J.
- Venue
- Cardiovascular Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-02-01
- Volume
- 65
- Issue
- 2
- Pages
- 366-373
- ISSN
- 0008-6363 (ISSN-L)
- OpenAlex
- W2010186048
- Cited by
- 422
- References
- 3
- FWCI
- 13.01
- Type
- journal article
- Language
- en
- Open access
- green
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