Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

Detalhes bibliográficos
Autor(a) principal: Ellard, S.
Data de Publicação: 2008
Outros Autores: Bellanné-Chantelot, C., Hattersley, A.T., European Molecular Genetics Quality Network (EMQN) MODY group
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/314
Resumo: Member of the EMQN MODY group: Gisela Gaspar
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spelling Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the youngBest practiceGCKHNF1AHNF4AMaturity-onset diabetes of the youngMODYMonogenic diabetesDoenças Cardio e Cérebro-vascularesMember of the EMQN MODY group: Gisela GasparAIMS/HYPOTHESIS: Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results.SpringerRepositório Científico do Instituto Nacional de SaúdeEllard, S.Bellanné-Chantelot, C.Hattersley, A.T.European Molecular Genetics Quality Network (EMQN) MODY group2011-11-09T15:43:10Z2008-02-232008-02-23T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/314engDiabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 230012-186Xinfo: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:RCAAP2023-07-20T15:38:08Zoai:repositorio.insa.pt:10400.18/314Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:35:32.497227Repositório 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 Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
title Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
spellingShingle Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
Ellard, S.
Best practice
GCK
HNF1A
HNF4A
Maturity-onset diabetes of the young
MODY
Monogenic diabetes
Doenças Cardio e Cérebro-vasculares
title_short Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
title_full Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
title_fullStr Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
title_full_unstemmed Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
title_sort Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
author Ellard, S.
author_facet Ellard, S.
Bellanné-Chantelot, C.
Hattersley, A.T.
European Molecular Genetics Quality Network (EMQN) MODY group
author_role author
author2 Bellanné-Chantelot, C.
Hattersley, A.T.
European Molecular Genetics Quality Network (EMQN) MODY group
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Ellard, S.
Bellanné-Chantelot, C.
Hattersley, A.T.
European Molecular Genetics Quality Network (EMQN) MODY group
dc.subject.por.fl_str_mv Best practice
GCK
HNF1A
HNF4A
Maturity-onset diabetes of the young
MODY
Monogenic diabetes
Doenças Cardio e Cérebro-vasculares
topic Best practice
GCK
HNF1A
HNF4A
Maturity-onset diabetes of the young
MODY
Monogenic diabetes
Doenças Cardio e Cérebro-vasculares
description Member of the EMQN MODY group: Gisela Gaspar
publishDate 2008
dc.date.none.fl_str_mv 2008-02-23
2008-02-23T00:00:00Z
2011-11-09T15:43:10Z
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/10400.18/314
url http://hdl.handle.net/10400.18/314
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Diabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 23
0012-186X
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.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
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
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