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Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations
Open accessAbstract
Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is associated with mutations in genes encoding eight different proteins, including transthyretin, apolipoprotein AI, apolipoprotein AII, lysozyme, fibrinogen A α-chain, cystatin C, gelsolin and beta-2-microglobulin. With support from the EU FP6 EURAMY project we have designed an online registry of genes and mutations in hereditary amyloidosis including their associated clinical phenotypes, with a view to having a single free online portal for the collection and distribution of this information. Users can search the registry by either mutation, phenotype or authors who have published or submitted mutations. It provides a submission form for reporting newly identified mutations. We also wanted to introduce nomenclature which complies with recommendations set out by Human Genome Variation Society and HUGO Gene Nomenclature Committee for description of new and known genetic variants. We hope this registry would be a useful and convenient tool for the medical and scientific community.
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Cited by
Solomon, S. D., Adams, D., Kristen, A., Grogan, M., González-Duarte, A., Maurer, M. S., Merlini, G., Damy, T., Slama, M. S., Brannagan, T. H., et al. (2019) · Circulation · doi:10.1161/circulationaha.118.035831 · Cited by 462
Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease
Adams, D., Koike, H., Slama, M., & Coelho, T. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0210-4 · Cited by 448
“Red‐flag” symptom clusters in transthyretin familial amyloid polyneuropathy
Conceição, I., González‐Duarte, A., Obici, L., Schmidt, H. H. ‐., Simoneau, D., Ong, M., & Amass, L. (2016) · Journal of the Peripheral Nervous System · doi:10.1111/jns.12153 · Cited by 299
Self-citationPatisiran, an RNAi Therapeutic for the Treatment of Hereditary Transthyretin-Mediated Amyloidosis
Kristen, A. V., Ajroud-Driss, S., Conceição, I., Gorevic, P., Kyriakides, T., & Obici, L. (2019) · Neurodegenerative Disease Management · doi:10.2217/nmt-2018-0033 · Cited by 268
Self-citationGertz, M. A., Scheinberg, M., Waddington-Cruz, M., Heitner, S. B., Karam, C., Drachman, B., Khella, S., Whelan, C., & Obici, L. (2019) · Expert Review of Clinical Pharmacology · doi:10.1080/17512433.2019.1635008 · Cited by 38
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Metadata
- Authors
- Rowczenio, D. M., Noor, I., Gillmore, J. D., Lachmann, H. J., Whelan, C., Hawkins, P. N., Obici, L., Westermark, P., Grateau, G., & Wechalekar, A. D.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2014-08-04
- Volume
- 35
- Issue
- 9
- Pages
- E2403-E2412
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W1986782676
- Cited by
- 308
- References
- 0
- FWCI
- 5.72
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations. https://app.cochat.ai/papers/10.1002/humu.22619
- The paper
- Rowczenio, D. M., Noor, I., Gillmore, J. D., Lachmann, H. J., Whelan, C., Hawkins, P. N., Obici, L., Westermark, P., Grateau, G., & Wechalekar, A. D. (2014). Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations. Human Mutation. https://doi.org/10.1002/humu.22619
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