The first case of NEUROD1-MODY reported in Latin America

Detalhes bibliográficos
Autor(a) principal: Abreu, Gabriella de Medeiros
Data de Publicação: 2019
Outros Autores: Tarantino, Roberta Magalhães, Cabello, Pedro Hernan, Zembrzuski, Verônica Marques, Fonseca, Ana Carolina Proença da, Rodacki, Melanie, Zajdenverg, Lenita, Campos Junior, Mário
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/42046
Resumo: Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.
id CRUZ_d53d78cd0aca196c3a443d8205a25d81
oai_identifier_str oai:www.arca.fiocruz.br:icict/42046
network_acronym_str CRUZ
network_name_str Repositório Institucional da FIOCRUZ (ARCA)
repository_id_str 2135
spelling Abreu, Gabriella de MedeirosTarantino, Roberta MagalhãesCabello, Pedro HernanZembrzuski, Verônica MarquesFonseca, Ana Carolina Proença daRodacki, MelanieZajdenverg, LenitaCampos Junior, Mário2020-07-02T18:50:28Z2020-07-02T18:50:28Z2019ABREU, Gabriella de Medeiros et al. The first case of NEUROD1‐MODY reported in Latin America. Molecular Genetics & Genomic Medicine, v. 7, p. 1-6, 2019.2324-9269https://www.arca.fiocruz.br/handle/icict/4204610.1002/mgg3.989engWileyNEUROD1MODYDiabetes MellitusMODY6Diabetes monogênicaDiabetes mellitusMODYMODY6Monogenic diabeteNEUROD1Latin AmerciaThe first case of NEUROD1-MODY reported in Latin Americainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna, Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil / Instituto Estadual de Diabetes e Endocrinologia. Ambulatório de Diabetes. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Unigranrio. Escola de CIência da Saúde. Laboratório de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna, Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna, Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Background: MODY‐NEUROD1 is a rare form of monogenic diabetes caused by mutations in Neuronal differentiation 1 (NEUROD1). Until now, only a few cases of MODY‐NEUROD1 have been reported worldwide and the real contribution of mutations in NEUROD1 in monogenic diabetes and its clinical impact remain unclear. Methods: Genomic DNA was isolated from peripheral blood lymphocytes of 25 unrelated Brazilians patients with clinical characteristics suggestive of monogenic diabetes and the screening of the entire coding region of NEUROD1 was performed by Sanger sequencing. Results: We identified one novel frameshift deletion (p.Phe256Leufs*2) in NEUROD1 segregating in an autosomal dominant inheritance fashion. Almost 20 years after the first report of NEUROD1‐MODY, only a few families in Europe and Asia had shown mutations in NEUROD1 as the cause of monogenic diabetes. Conclusion: To our knowledge, we described the first case of NEUROD1‐MODY in a Latin American family.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/42046/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALPedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdfPedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdfapplication/pdf498461https://www.arca.fiocruz.br/bitstream/icict/42046/2/PedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdf5309be7e1470da0e6652fae18c215025MD52TEXTPedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdf.txtPedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdf.txtExtracted texttext/plain27611https://www.arca.fiocruz.br/bitstream/icict/42046/3/PedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdf.txt5040fd59588d9c12621ede79923382e9MD53icict/420462020-07-03 02:07:49.139oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352020-07-03T05:07:49Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv The first case of NEUROD1-MODY reported in Latin America
title The first case of NEUROD1-MODY reported in Latin America
spellingShingle The first case of NEUROD1-MODY reported in Latin America
Abreu, Gabriella de Medeiros
NEUROD1
MODY
Diabetes Mellitus
MODY6
Diabetes monogênica
Diabetes mellitus
MODY
MODY6
Monogenic diabete
NEUROD1
Latin Amercia
title_short The first case of NEUROD1-MODY reported in Latin America
title_full The first case of NEUROD1-MODY reported in Latin America
title_fullStr The first case of NEUROD1-MODY reported in Latin America
title_full_unstemmed The first case of NEUROD1-MODY reported in Latin America
title_sort The first case of NEUROD1-MODY reported in Latin America
author Abreu, Gabriella de Medeiros
author_facet Abreu, Gabriella de Medeiros
Tarantino, Roberta Magalhães
Cabello, Pedro Hernan
Zembrzuski, Verônica Marques
Fonseca, Ana Carolina Proença da
Rodacki, Melanie
Zajdenverg, Lenita
Campos Junior, Mário
author_role author
author2 Tarantino, Roberta Magalhães
Cabello, Pedro Hernan
Zembrzuski, Verônica Marques
Fonseca, Ana Carolina Proença da
Rodacki, Melanie
Zajdenverg, Lenita
Campos Junior, Mário
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Abreu, Gabriella de Medeiros
Tarantino, Roberta Magalhães
Cabello, Pedro Hernan
Zembrzuski, Verônica Marques
Fonseca, Ana Carolina Proença da
Rodacki, Melanie
Zajdenverg, Lenita
Campos Junior, Mário
dc.subject.other.pt_BR.fl_str_mv NEUROD1
MODY
Diabetes Mellitus
MODY6
Diabetes monogênica
topic NEUROD1
MODY
Diabetes Mellitus
MODY6
Diabetes monogênica
Diabetes mellitus
MODY
MODY6
Monogenic diabete
NEUROD1
Latin Amercia
dc.subject.en.pt_BR.fl_str_mv Diabetes mellitus
MODY
MODY6
Monogenic diabete
NEUROD1
Latin Amercia
description Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.
publishDate 2019
dc.date.issued.fl_str_mv 2019
dc.date.accessioned.fl_str_mv 2020-07-02T18:50:28Z
dc.date.available.fl_str_mv 2020-07-02T18:50:28Z
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.citation.fl_str_mv ABREU, Gabriella de Medeiros et al. The first case of NEUROD1‐MODY reported in Latin America. Molecular Genetics & Genomic Medicine, v. 7, p. 1-6, 2019.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/42046
dc.identifier.issn.pt_BR.fl_str_mv 2324-9269
dc.identifier.doi.pt_BR.fl_str_mv 10.1002/mgg3.989
identifier_str_mv ABREU, Gabriella de Medeiros et al. The first case of NEUROD1‐MODY reported in Latin America. Molecular Genetics & Genomic Medicine, v. 7, p. 1-6, 2019.
2324-9269
10.1002/mgg3.989
url https://www.arca.fiocruz.br/handle/icict/42046
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.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/42046/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/42046/2/PedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdf
https://www.arca.fiocruz.br/bitstream/icict/42046/3/PedroCabello_GabrielaAbreu_etal_IOC_2019.pdd.pdf.txt
bitstream.checksum.fl_str_mv 5a560609d32a3863062d77ff32785d58
5309be7e1470da0e6652fae18c215025
5040fd59588d9c12621ede79923382e9
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv repositorio.arca@fiocruz.br
_version_ 1813009264879337472

Registros relacionados