Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation-Reference-Cited by-同舟云学术

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Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

Published:2019-01-02 Issue:6 Volume:12 Page:514-516
ISSN:1937-5387
Container-title:Journal of Cardiovascular Translational Research
language:en
Short-container-title:J. of Cardiovasc. Trans. Res.

Author:

Tini Giacomo,Vianello Pier Filippo,Gemelli Chiara,Grandis Marina,Canepa Marco

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Cardiology and Cardiovascular Medicine,Pharmaceutical Science,Genetics,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12265-018-9859-0.pdf

Reference5 articles.

1. Rapezzi, C., Quarta, C. C., Obici, L., et al. (2013). Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. European Heart Journal, 34(7), 520–528. https://doi.org/10.1093/eurheartj/ehs123 .

2. Redondo, C., Damas, A. M., Olofsson, A., et al. (2000). Search for intermediate structures in transthyretin fibrillogenesis: soluble tetrameric Tyr78Phe TTR expresses a specific epitope present only in amyloid fibrils. Journal of Molecular Biology, 304(3), 461–470. https://doi.org/10.1006/jmbi.2000.4220 .

3. Anesi, E., Palladini, G., Perfetti, V., et al. (2001). Therapeutic advances demand accurate typing of amyloid deposits. The American Journal of Medicine, 111(3), 243–244.

4. Magy, N., Liepnieks, J. J., Gil, H., et al. (2003). A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis. Amyloid, 10(1), 29–33.

5. Riboldi, G., Del Bo, R., Ranieri, M., et al. (2011). Tyr78Phe transthyretin mutation with predominant motor neuropathy as the initial presentation. Case Report in Neurology, 3(1), 62–68. https://doi.org/10.1159/000324925 .

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1. The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases;Clinical Genetics;2024-06-04

2. First case of symptomatic transthyretin cardiac amyloidosis with rare Tyr78Phe variant, normal left ventricular wall thickness, and no cardiac uptake on scintigraphy;European Heart Journal;2024-03-01

3. Identification and management of gastrointestinal manifestations of hereditary transthyretin amyloidosis: Recommendations from an Italian group of experts;Digestive and Liver Disease;2023-12

4. The Many Faces of Arterial Hypertension in Hypertrophic Cardiomyopathy and Its Phenocopies: Bystander, Consequence, Modifier;High Blood Pressure & Cardiovascular Prevention;2021-04-27

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