EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

Miller, Emily E; Kobayashi, Gerson S; Musso, Camila M; Allen, Miranda; Ishiy, Felipe A A; de Caires, Luiz Carlos; Goulart, Ernesto; Griesi-Oliveira, Karina; Zechi-Ceide, Roseli M; Richieri-Costa, Antonio; Bertola, Debora R; Passos-Bueno, Maria Rita; Silver, Debra L

Miller, Emily E; Kobayashi, Gerson S; Musso, Camila M; Allen, Miranda; Ishiy, Felipe A A; de Caires, Luiz Carlos; Goulart, Ernesto; Griesi-Oliveira, Karina; Zechi-Ceide, Roseli M; Richieri-Costa, Antonio; Bertola, Debora R; Passos-Bueno, Maria Rita; Silver, Debra L.

Afiliação

Miller EE; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.
Kobayashi GS; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
Musso CM; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
Allen M; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.
Ishiy FAA; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
de Caires LC; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
Goulart E; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
Griesi-Oliveira K; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
Zechi-Ceide RM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
Richieri-Costa A; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
Bertola DR; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
Passos-Bueno MR; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
Silver DL; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.

Hum Mol Genet ; 26(12): 2177-2191, 2017 06 15.

Article em En | MEDLINE | ID: mdl-28334780

Assuntos

Pé Torto Equinovaro/genética; RNA Helicases DEAD-box/genética; RNA Helicases DEAD-box/metabolismo; Fator de Iniciação 4A em Eucariotos/genética; Fator de Iniciação 4A em Eucariotos/metabolismo; Deformidades Congênitas da Mão/genética; Síndrome de Pierre Robin/genética; Animais; Osso e Ossos/metabolismo; Região Branquial/metabolismo; Diferenciação Celular/genética; Movimento Celular; Condrogênese/genética; Pé Torto Equinovaro/metabolismo; Anormalidades Craniofaciais/genética; Anormalidades Craniofaciais/metabolismo; Modelos Animais de Doenças; Deformidades Congênitas da Mão/metabolismo; Humanos; Células-Tronco Pluripotentes Induzidas/metabolismo; Camundongos; Crista Neural/crescimento & desenvolvimento; Crista Neural/metabolismo; Osteogênese/genética; Síndrome de Pierre Robin/metabolismo

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Deformidades Congênitas da Mão / Pé Torto Equinovaro / Fator de Iniciação 4A em Eucariotos / RNA Helicases DEAD-box Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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