Trinucleotide repeat diseases - antecipation diseases

Detalhes bibliográficos
Autor(a) principal: Cardoso, Inês Lopes
Data de Publicação: 2018
Outros Autores: Marques, Vicente
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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spelling 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
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