Trinucleotide repeat diseases - antecipation diseases
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10284/8594 |
Resumo: | Dynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e. adjacent to one another) present in a gene or in its neighborhood. These repeats may occur in different genes and may code for different aminoacids. According to expansions sizes, it is possible to have unaffected individuals that are carriers of a pre-mutation. Instability of triplet repeat size can lead to gradual expansion through generations, a phenomenon called anticipation. Genetic anticipation is characterized by the reduction in the age of disease onset and by a worsening of symptoms in affected individuals in successive generations. This work describes dynamic mutations giving emphasis on triplet repeats diseases, making the parallel with disease anticipation. Treatment strategies that have been developed during the last years are also discussed. |
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Trinucleotide repeat diseases - antecipation diseasesTrinucleotide repeatsAnticipation diseasesDynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e. adjacent to one another) present in a gene or in its neighborhood. These repeats may occur in different genes and may code for different aminoacids. According to expansions sizes, it is possible to have unaffected individuals that are carriers of a pre-mutation. Instability of triplet repeat size can lead to gradual expansion through generations, a phenomenon called anticipation. Genetic anticipation is characterized by the reduction in the age of disease onset and by a worsening of symptoms in affected individuals in successive generations. This work describes dynamic mutations giving emphasis on triplet repeats diseases, making the parallel with disease anticipation. Treatment strategies that have been developed during the last years are also discussed.Repositório Institucional da Universidade Fernando PessoaCardoso, Inês LopesMarques, Vicente2020-03-03T09:46:27Z2020-02-28T16:14:03Z2018-01-01T00:00:00Z2018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10284/8594engcv-prod-368720info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-06T02:07:58Zoai:bdigital.ufp.pt:10284/8594Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:45:28.453509Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Trinucleotide repeat diseases - antecipation diseases |
title |
Trinucleotide repeat diseases - antecipation diseases |
spellingShingle |
Trinucleotide repeat diseases - antecipation diseases Cardoso, Inês Lopes Trinucleotide repeats Anticipation diseases |
title_short |
Trinucleotide repeat diseases - antecipation diseases |
title_full |
Trinucleotide repeat diseases - antecipation diseases |
title_fullStr |
Trinucleotide repeat diseases - antecipation diseases |
title_full_unstemmed |
Trinucleotide repeat diseases - antecipation diseases |
title_sort |
Trinucleotide repeat diseases - antecipation diseases |
author |
Cardoso, Inês Lopes |
author_facet |
Cardoso, Inês Lopes Marques, Vicente |
author_role |
author |
author2 |
Marques, Vicente |
author2_role |
author |
dc.contributor.none.fl_str_mv |
Repositório Institucional da Universidade Fernando Pessoa |
dc.contributor.author.fl_str_mv |
Cardoso, Inês Lopes Marques, Vicente |
dc.subject.por.fl_str_mv |
Trinucleotide repeats Anticipation diseases |
topic |
Trinucleotide repeats Anticipation diseases |
description |
Dynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e. adjacent to one another) present in a gene or in its neighborhood. These repeats may occur in different genes and may code for different aminoacids. According to expansions sizes, it is possible to have unaffected individuals that are carriers of a pre-mutation. Instability of triplet repeat size can lead to gradual expansion through generations, a phenomenon called anticipation. Genetic anticipation is characterized by the reduction in the age of disease onset and by a worsening of symptoms in affected individuals in successive generations. This work describes dynamic mutations giving emphasis on triplet repeats diseases, making the parallel with disease anticipation. Treatment strategies that have been developed during the last years are also discussed. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-01-01T00:00:00Z 2018-01-01T00:00:00Z 2020-03-03T09:46:27Z 2020-02-28T16:14:03Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10284/8594 |
url |
http://hdl.handle.net/10284/8594 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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cv-prod-368720 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.source.none.fl_str_mv |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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