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Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFß-mediated α-SMA cytoskeleton assembly and autophagy.
Micale, Lucia; Morlino, Silvia; Biagini, Tommaso; Carbone, Annalucia; Fusco, Carmela; Ritelli, Marco; Giambra, Vincenzo; Zoppi, Nicoletta; Nardella, Grazia; Notarangelo, Angelantonio; Schirizzi, Annalisa; Mazzoccoli, Gianluigi; Grammatico, Paola; Wade, Emma M; Mazza, Tommaso; Colombi, Marina; Castori, Marco.
Afiliação
  • Micale L; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. Electronic address: l.micale@operapadrepio.it.
  • Morlino S; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Biagini T; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Carbone A; Division of Internal Medicine and Unit of Chronobiology, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Fusco C; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Giambra V; Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies (ISBReMIT), Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Zoppi N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Nardella G; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Notarangelo A; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Schirizzi A; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy; Dipartimento di Biologia, Università degli Studi di Bari, "Aldo Moro", Bari, Italy.
  • Mazzoccoli G; Division of Internal Medicine and Unit of Chronobiology, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Wade EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Mazza T; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Castori M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Biochim Biophys Acta Mol Basis Dis ; 1866(6): 165742, 2020 06 01.
Article em En | MEDLINE | ID: mdl-32105826
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Autofagia / Anormalidades Múltiplas / Actinas / MAP Quinase Quinase Quinases / Perda Auditiva Bilateral / Insuficiência da Valva Mitral Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2020 Tipo de documento: Article País de publicação: Holanda
Texto completo
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Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Autofagia / Anormalidades Múltiplas / Actinas / MAP Quinase Quinase Quinases / Perda Auditiva Bilateral / Insuficiência da Valva Mitral Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2020 Tipo de documento: Article País de publicação: Holanda