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Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
Loconte, Daria C; Grossi, Valentina; Bozzao, Cristina; Forte, Giovanna; Bagnulo, Rosanna; Stella, Alessandro; Lastella, Patrizia; Cutrone, Mario; Benedicenti, Francesco; Susca, Francesco C; Patruno, Margherita; Varvara, Dora; Germani, Aldo; Chessa, Luciana; Laforgia, Nicola; Tenconi, Romano; Simone, Cristiano; Resta, Nicoletta.
Afiliación
  • Loconte DC; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Grossi V; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy; National Cancer Institute, IRCCS Oncologico Giovanni Paolo II, Bari, Italy.
  • Bozzao C; Department of Clinical and Molecular Medicine, "Sapienza" University of Rome, Rome, Italy.
  • Forte G; Cancer Genetics Laboratory, IRCCS "S. de Bellis", Castellana Grotte, Italy.
  • Bagnulo R; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Stella A; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Lastella P; Center for Rare Diseases-Internal Medicine "C. Frugoni", University Hospital of Bari, Bari, Italy.
  • Cutrone M; US Dermatologia Pediatrica, Ospedale dell'Angelo Ulss 12 Mestre, Venezia, Italy.
  • Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Susca FC; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Patruno M; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Varvara D; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Germani A; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Chessa L; Department of Clinical and Molecular Medicine, "Sapienza" University of Rome, Rome, Italy.
  • Laforgia N; Neonatology and NICU Section, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
  • Tenconi R; University of Padova, Padova, Italy.
  • Simone C; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy; National Cancer Institute, IRCCS Oncologico Giovanni Paolo II, Bari, Italy.
  • Resta N; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
PLoS One ; 10(4): e0123092, 2015.
Article en En | MEDLINE | ID: mdl-25915946
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Transducción de Señal / Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Serina-Treonina Quinasas TOR / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans / Infant / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Transducción de Señal / Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Serina-Treonina Quinasas TOR / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans / Infant / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos