Inativação do cromossoma X: implicações na patologia humana

Detalhes bibliográficos
Autor(a) principal: Guilherme José Ruivo Pereira
Data de Publicação: 2021
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://hdl.handle.net/10216/134410
Resumo: X-Chromosome Inactivation (XCI) is a process involved in the pathogenesis of several diseases. In this mini review we discuss the known mechanisms associated with XCI, when and how it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address skewed XCI, the condition that happen when this process is not fully randomized, and its consequences to the phenotype of some pathologies. We debate about the known pathologies implicated, including X unbalanced rearrangements, X-autosomal balanced translocations, Turner and Klinefelter syndromes and also for X-linked diseases and his consequences for males and females. Some pathologies were discussed more in detail such as intellectual disability with a recognize relation with XCI. Finally, possible future implications for genomic therapy and treatment of patients and list areas that need further research on this topic were addressed.
id RCAP_ccbbc583557a84c8379def3ed364f949
oai_identifier_str oai:repositorio-aberto.up.pt:10216/134410
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Inativação do cromossoma X: implicações na patologia humanaMedicina clínicaClinical medicineX-Chromosome Inactivation (XCI) is a process involved in the pathogenesis of several diseases. In this mini review we discuss the known mechanisms associated with XCI, when and how it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address skewed XCI, the condition that happen when this process is not fully randomized, and its consequences to the phenotype of some pathologies. We debate about the known pathologies implicated, including X unbalanced rearrangements, X-autosomal balanced translocations, Turner and Klinefelter syndromes and also for X-linked diseases and his consequences for males and females. Some pathologies were discussed more in detail such as intellectual disability with a recognize relation with XCI. Finally, possible future implications for genomic therapy and treatment of patients and list areas that need further research on this topic were addressed.2021-05-172021-05-17T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttps://hdl.handle.net/10216/134410TID:202848744engGuilherme José Ruivo Pereirainfo: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:RCAAP2023-11-29T13:12:11Zoai:repositorio-aberto.up.pt:10216/134410Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T23:35:48.703004Repositório 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 Inativação do cromossoma X: implicações na patologia humana
title Inativação do cromossoma X: implicações na patologia humana
spellingShingle Inativação do cromossoma X: implicações na patologia humana
Guilherme José Ruivo Pereira
Medicina clínica
Clinical medicine
title_short Inativação do cromossoma X: implicações na patologia humana
title_full Inativação do cromossoma X: implicações na patologia humana
title_fullStr Inativação do cromossoma X: implicações na patologia humana
title_full_unstemmed Inativação do cromossoma X: implicações na patologia humana
title_sort Inativação do cromossoma X: implicações na patologia humana
author Guilherme José Ruivo Pereira
author_facet Guilherme José Ruivo Pereira
author_role author
dc.contributor.author.fl_str_mv Guilherme José Ruivo Pereira
dc.subject.por.fl_str_mv Medicina clínica
Clinical medicine
topic Medicina clínica
Clinical medicine
description X-Chromosome Inactivation (XCI) is a process involved in the pathogenesis of several diseases. In this mini review we discuss the known mechanisms associated with XCI, when and how it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address skewed XCI, the condition that happen when this process is not fully randomized, and its consequences to the phenotype of some pathologies. We debate about the known pathologies implicated, including X unbalanced rearrangements, X-autosomal balanced translocations, Turner and Klinefelter syndromes and also for X-linked diseases and his consequences for males and females. Some pathologies were discussed more in detail such as intellectual disability with a recognize relation with XCI. Finally, possible future implications for genomic therapy and treatment of patients and list areas that need further research on this topic were addressed.
publishDate 2021
dc.date.none.fl_str_mv 2021-05-17
2021-05-17T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://hdl.handle.net/10216/134410
TID:202848744
url https://hdl.handle.net/10216/134410
identifier_str_mv TID:202848744
dc.language.iso.fl_str_mv eng
language eng
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 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution 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
repository.mail.fl_str_mv
_version_ 1799135669982855168