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Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations
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Rowczenio, Dorota M. (author)
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Noor, Islam (author)
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Gillmore, Julian D. (author)
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Lachmann, Helen J. (author)
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Whelan, Carol (author)
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Hawkins, Philip N. (author)
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Obici, Laura (author)
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- Westermark, Per (author)
- Uppsala universitet,Molekylär och morfologisk patologi
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Grateau, Gilles (author)
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Wechalekar, Ashutosh D. (author)
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(creator_code:org_t)
- 2014-08-04
- 2014
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 35:9, s. E2403-E2412
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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 alpha-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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Hereditary amyloidosis
- online registry
- amyloidogenic and non-amyloidogenic mutations
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Rowczenio, Dorot ...
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Noor, Islam
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Gillmore, Julian ...
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Lachmann, Helen ...
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Whelan, Carol
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Hawkins, Philip ...
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show more...
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Obici, Laura
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Westermark, Per
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Grateau, Gilles
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Wechalekar, Ashu ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Mutation
- By the university
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Uppsala University