Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-ß responses through SKI stabilization.

Gori, Ilaria; George, Roger; Purkiss, Andrew G; Strohbuecker, Stephanie; Randall, Rebecca A; Ogrodowicz, Roksana; Carmignac, Virginie; Faivre, Laurence; Joshi, Dhira; Kjær, Svend; Hill, Caroline S

Gori, Ilaria; George, Roger; Purkiss, Andrew G; Strohbuecker, Stephanie; Randall, Rebecca A; Ogrodowicz, Roksana; Carmignac, Virginie; Faivre, Laurence; Joshi, Dhira; Kjær, Svend; Hill, Caroline S.

Afiliação

Gori I; Developmental Signalling Laboratory, The Francis Crick Institute, London, United Kingdom.
George R; Structural Biology Facility, The Francis Crick Institute, London, United Kingdom.
Purkiss AG; Structural Biology Facility, The Francis Crick Institute, London, United Kingdom.
Strohbuecker S; Bioinformatics and Biostatistics Facility, The Francis Crick Institute, London, United Kingdom.
Randall RA; Developmental Signalling Laboratory, The Francis Crick Institute, London, United Kingdom.
Ogrodowicz R; Structural Biology Facility, The Francis Crick Institute, London, United Kingdom.
Carmignac V; INSERM - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Faivre L; INSERM - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Joshi D; Peptide Chemistry Facility, The Francis Crick Institute, London, United Kingdom.
Kjær S; Structural Biology Facility, The Francis Crick Institute, London, United Kingdom.
Hill CS; Developmental Signalling Laboratory, The Francis Crick Institute, London, United Kingdom.

Elife ; 102021 01 08.

Article em En | MEDLINE | ID: mdl-33416497

Assuntos

Aracnodactilia/genética; Craniossinostoses/genética; Proteínas de Ligação a DNA/genética; Síndrome de Marfan/genética; Mutação; Proteínas Proto-Oncogênicas/genética; Fator de Crescimento Transformador beta/genética; Proteínas de Ligação a DNA/metabolismo; Feminino; Humanos; Masculino; Proteínas Proto-Oncogênicas/metabolismo; Transdução de Sinais; Fator de Crescimento Transformador beta/metabolismo

Palavras-chave

Activin; Marfan syndrome; SKI; SMAD; Shprintzen-Goldberg syndrome; TGF-ß; biochemistry; chemical biology; chromosomes; gene expression; human

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fator de Crescimento Transformador beta / Proteínas Proto-Oncogênicas / Craniossinostoses / Proteínas de Ligação a DNA / Aracnodactilia / Síndrome de Marfan / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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