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MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Piccolo, Pasquale; Attanasio, Sergio; Secco, Ilaria; Sangermano, Riccardo; Strisciuglio, Caterina; Limongelli, Giuseppe; Miele, Erasmo; Mutarelli, Margherita; Banfi, Sandro; Nigro, Vincenzo; Pons, Tirso; Valencia, Alfonso; Zentilin, Lorena; Campione, Severo; Nardone, Gerardo; Lynnes, Ty C; Celestino-Soper, Patricia B S; Spoonamore, Katherine G; D'Armiento, Francesco P; Giacca, Mauro; Staiano, Annamaria; Vatta, Matteo; Collesi, Chiara; Brunetti-Pierri, Nicola.
Afiliação
  • Piccolo P; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
  • Attanasio S; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
  • Secco I; Molecular Medicine Laboratory, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.
  • Sangermano R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
  • Strisciuglio C; Department of Woman, Child and General and Specialized Surgery, Second University of Naples, Naples, Italy.
  • Limongelli G; Department of Cardiothoracic Sciences, Monaldi Hospital, Second University of Naples, Naples, Italy.
  • Miele E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Mutarelli M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
  • Banfi S; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
  • Nigro V; Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy.
  • Pons T; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
  • Valencia A; Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy.
  • Zentilin L; Structural Biology and BioComputing Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
  • Campione S; Structural Biology and BioComputing Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
  • Nardone G; Molecular Medicine Laboratory, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.
  • Lynnes TC; Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
  • Celestino-Soper PB; Department of Clinical Medicine and Surgery, Gastroenterology Unit, Federico II University, Naples, Italy.
  • Spoonamore KG; Department of Medical and Molecular Genetics.
  • D'Armiento FP; Department of Medical and Molecular Genetics.
  • Giacca M; Krannert Institute of Cardiology, Division of Cardiology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Staiano A; Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
  • Vatta M; Molecular Medicine Laboratory, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.
  • Collesi C; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  • Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
Hum Mol Genet ; 26(1): 33-43, 2017 01 01.
Article em En | MEDLINE | ID: mdl-28013292
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gastropatias / Disfunção Ventricular Esquerda / Mutação de Sentido Incorreto / Ubiquitina-Proteína Ligases / Receptores Notch / Gastrite Hipertrófica / Cardiomiopatias Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gastropatias / Disfunção Ventricular Esquerda / Mutação de Sentido Incorreto / Ubiquitina-Proteína Ligases / Receptores Notch / Gastrite Hipertrófica / Cardiomiopatias Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido