Paola Daniele
Casa Sollievo della Sofferenza
12 Papers
6 Citations
Paola Daniele is an academic researcher from Casa Sollievo della Sofferenza. The author has contributed to research in topics: Noonan syndrome & RASopathy. The author has an hindex of 6, co-authored 12 publications. Previous affiliations of Paola Daniele include University of Naples Federico II.
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Papers
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Valentina Pinna,Valentina Lanari,Paola Daniele,Federica Consoli,Emanuele Agolini,Katia Margiotti,Irene Bottillo,Isabella Torrente,Alessandro Bruselles,Caterina Fusilli,Anna Ficcadenti,Sara Bargiacchi,Eva Trevisson,Monica Forzan,Sandra Giustini,Chiara Leoni,Giuseppe Zampino,Maria Cristina Digilio,Bruno Dallapiccola,Maurizio Clementi,Marco Tartaglia,Alessandro De Luca +21 more
TL;DR: Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 allowed to identify the heterozygous c.5425C>T missense variant in six unrelated probands, all exhibiting a mild form of disease.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
Viviana Cordeddu,Jiani C. Yin,Cecilia Gunnarsson,Carl Virtanen,Séverine Drunat,Francesca Romana Lepri,Alessandro De Luca,Cesare Rossi,Andrea Ciolfi,Trevor J. Pugh,Alessandro Bruselles,James R. Priest,Len A. Pennacchio,Len A. Pennacchio,Zhibin Lu,Arnavaz Danesh,Rene Quevedo,Alaa Hamid,Simone Martinelli,Francesca Pantaleoni,Maria Gnazzo,Paola Daniele,Christina Lissewski,Gianfranco Bocchinfuso,Lorenzo Stella,Sylvie Odent,Nicole Philip,Laurence Faivre,Marketa Vlckova,Eva Seemanova,Cristina Digilio,Martin Zenker,Giuseppe Zampino,Alain Verloes,Bruno Dallapiccola,Amy E. Roberts,Hélène Cavé,Bruce D. Gelb,Benjamin G. Neel,Benjamin G. Neel,Marco Tartaglia,Marco Tartaglia +41 more
TL;DR: It is reported that missense mutations altering Son of Sevenless, Drosophila, homolog 2 (SOS2), which encodes a RAS guanine nucleotide exchange factor, occur in a small percentage of subjects with NS, and mutations were found to promote enhanced signaling from RAS to ERK.
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.
Marleny Salazar,Federica Consoli,Victoria E. Villegas,Víctor Caicedo,Valeria Maddaloni,Paola Daniele,Giuseppe Caianiello,Sonia Pachón,Federico Núñez,Giuseppe Limongelli,Giuseppe Pacileo,Bruno Marino,Jaime E. Bernal,Alessandro De Luca,Bruno Dallapiccola +14 more
TL;DR: The present study has identified NKX2.5 and GATA4 constitutional variants in the CHD cohort, but was unable to replicate the previously published findings of high prevalence of somatically derived sequence mutations in patients with cardiac septal defects using fresh-frozen cardiac tissues rather than formalin-fixed tissues.
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Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats
Cristina Zalfa,Laura Rota Nodari,Elena Vacchi,Maurizio Gelati,Daniela Celeste Profico,Marina Boido,Elena Binda,Lidia De Filippis,Massimiliano Copetti,Valentina Garlatti,Paola Daniele,Jessica Rosati,Alessandro De Luca,Francesca Pinos,Laura Cajola,Alberto Visioli,Letizia Mazzini,Alessandro Vercelli,Maria Svelto,Angelo L. Vescovi,Angelo L. Vescovi,Angelo L. Vescovi,Daniela Ferrari +22 more
TL;DR: It is demonstrated that the beneficial effects observed after stem cell transplantation arises from multiple events that counteract several aspects of the disease, a crucial feature for multifactorial diseases, such as ALS.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Alexandra Scott,Niccolò Di Giosaffatte,Valentina Pinna,Paola Daniele,Sara Corno,Valentina D'Ambrosio,Elena Andreucci,Annabella Marozza,Fabio Sirchia,Giada Tortora,Daniela Mangiameli,Chiara Di Marco,Maria Romagnoli,Ilaria Donati,Andrea Zonta,Enrico Grosso,Valeria Giorgia Naretto,Gioia Mastromoro,Paolo Versacci,Francesca Pantaleoni,Francesca Clementina Radio,Tommaso Mazza,Giuseppe Damante,Laura Papi,Teresa Mattina,Antonella Giancotti,Antonio Pizzuti,Anne-Marie Laberge,Marco Tartaglia,Marie Ange Delrue,Alessandro De Luca +30 more
TL;DR: In this paper, the authors compare genotype distributions between pre- and postnatal populations and propose genotype-phenotype correlations for RASopathy prenatal testing. But, the results showed that the overall diagnostic yield was only 14% (50/352), with rates >20% for effusions, hydrops, and CHD.
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