Výsledky vyhledávání - Francesca Pantaleoni
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1
Enhanced ability of dendritic cells to stimulate innate and adaptive immunity on short-term incubation with zoledronic acid Autor Francesca Fiore, Barbara Castella, Barbara Nuschak, Raffaello Bertieri, Sara Mariani, Benedetto Bruno, Francesca Pantaleoni, Myriam Foglietta, Mario Boccadoro, Massimo Massaia
Vydáno 2007Artigo -
2
Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling Autor Marialetizia Motta, Miray Fidan, Emanuele Bellacchio, Francesca Pantaleoni, Konstantin Schneider‐Heieck, Simona Coppola, Guntram Borck, Leonardo Salviati, Martin Zenker, Ion Cristian Cirstea, Marco Tartaglia
Vydáno 2018Artigo -
3
Immune Modulation by Zoledronic Acid in Human Myeloma: An Advantageous Cross-Talk between Vγ9Vδ2 T Cells, αβ CD8+ T Cells, Regulatory T Cells, and Dendritic Cells Autor Barbara Castella, Chiara Riganti, Francesca Fiore, Francesca Pantaleoni, Maria Elisa Canepari, Silvia Peola, Myriam Foglietta, Antonio Palumbo, Amalia Bosìa, Marta Coscia, Mario Boccadoro, Massimo Massaia
Vydáno 2011Artigo -
4
Zoledronic acid repolarizes tumour‐associated macrophages and inhibits mammary carcinogenesis by targeting the mevalonate pathway Autor Marta Coscia, Elena Quaglino, Manuela Iezzi, Claudia Curcio, Francesca Pantaleoni, Chiara Riganti, Ingunn Holen, Hannu Mönkkönen, Mario Boccadoro, Guido Forni, Piero Musiani, Amalia Bosìa, Federica Cavallo, Massimo Massaia
Vydáno 2009Artigo -
5
Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype Autor Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sárközy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia
Vydáno 2006Artigo -
6
IGHV unmutated CLL B cells are more prone to spontaneous apoptosis and subject to environmental prosurvival signals than mutated CLL B cells Autor Marta Coscia, Francesca Pantaleoni, Chiara Riganti, Candida Vitale, Micol Maria Rigoni, Silvia Peola, Barbara Castella, Myriam Foglietta, Valentina Griggio, Daniela Drandi, Marco Ladetto, Amalia Bosìa, Mario Boccadoro, Massimo Massaia
Vydáno 2011Artigo -
7
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations Autor Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, Claudio Carta, Francesca Romana Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, M. Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Bruno Dallapiccola
Vydáno 2009Artigo -
8
Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome Autor Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia
Vydáno 2006Artigo -
9
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome Autor Christiane K. Bauer, Paolo Calligari, Francesca Clementina Radio, Viviana Caputo, Maria Lisa Dentici, N Falah, Frances A. High, Francesca Pantaleoni, Sabina Barresi, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Richard Person, Sarah Richards, Megan T. Cho, Daniela Judith Claps Sepulveda, S. Pro, Roberta Battini, Giuseppe Zampino, M. Cristina Digilio, Gianfranco Bocchinfuso, Bruno Dallapiccola, Lorenzo Stella, Marco Tartaglia
Vydáno 2018Artigo -
10
Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum Autor Anna Sárközy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, M. Cristina Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Romana Lepri, Valentina Petrangeli, Maria Lisa Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni Battista Ferrero, Margherita Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola, Marco Tartaglia
Vydáno 2009Artigo -
11
Genotype and phenotype spectrum of NRAS germline variants Autor Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker
Vydáno 2017Artigo -
12
Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome Autor Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lißewski, Francesca Pantaleoni, Federica Consoli, Francesca Romana Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Čuturilo, Alessandro Sartório, Sigrid Tinschert, Maria Accadia, M. Cristina Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni Battista Ferrero, Simone Martinelli, Marco Tartaglia
Vydáno 2017Artigo -
13
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment Autor Catherine Rodger, Elisabetta Flex, Rachel Allison, Alba Sanchis-Juan, Marcia A. Hasenahuer, Serena Cecchetti, Courtney E. French, James R. Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles, Roberta Onesimo, Giuseppe Zampino, Francesca Marcon, Ester Siniscalchi, Melissa Lees, Deepa Krishnakumar, Emma McCann, Dragana Yosifova, Joanna Jarvis, Michael C. Kruer, Warren A. Marks, Jonathan J. Campbell, Louise Allen, Stefano Gustincich, F. Lucy Raymond, Marco Tartaglia, Evan Reid
Vydáno 2020Artigo -
14
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations Autor Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella, Cesare Rossi, Giuseppina Baldassarre, Francesca Pantaleoni, Viviana Cordeddu, Bradley J. Williams, Maria Lisa Dentici, Viviana Caputo, Serenella Venanzi, Michela Bonaguro, Ines Kavamura, Maria Felicia Faienza, Alba Pilotta, Franco Stanzial, Francesca Faravelli, Orazio Gabrielli, Bruno Marino, Giovanni Neri, Margherita Silengo, Giovanni Battista Ferrero, Isabella Torrrente, Angelo Selicorni, Laura Mazzanti, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia
Vydáno 2011Artigo -
15
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration Autor Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholamreza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian, Serenella Servidei, Marco Tartaglia
Vydáno 2018Artigo -
16
A restricted spectrum of NRAS mutations causes Noonan syndrome Autor Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský, Lothar Gremer, Claudio Carta, Denise Horn, Amy E. Roberts, Francesca Romana Lepri, Torsten Merbitz-Zahradnik, Rainer König, Christian P. Kratz, Francesca Pantaleoni, Maria Lisa Dentici, Victoria A. Joshi, Raju Kucherlapati, Laura Mazzanti, Stefan Mundlos, Michael A. Patton, Margherita Silengo, Cesare Rossi, Giuseppe Zampino, Cristina Digilio, Liborio Stuppia, E Seemanová, L Pennacchio, Bruce D. Gelb, Bruno Dallapiccola, Alfred Wittinghofer, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker
Vydáno 2009Artigo -
17
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome Autor Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca Romana Lepri, Elaine Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C. Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Čuturilo, Neda S. Kazemein Jasemi, Radovan Dvorský, Kristin G. Monaghan, Lisa M. Vincent, Hélène Cavé, Alain Verloès, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker
Vydáno 2019Artigo -
18
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype Autor Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Özlem Şimşek‐Kiper, Elif Yılmaz Güleç, L. Essaddam, Gülen Eda Ütine, Ingrid G. Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E.L.M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, S. Ben Bêcher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia
Vydáno 2021Artigo -
19
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome Autor 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, L 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, Markéta Vlčková, E Seemanová, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloès, Bruno Dallapiccola, Amy E. Roberts, Hélène Cavé, Bruce D. Gelb, Benjamin G. Neel, Marco Tartaglia
Vydáno 2015Artigo -
20
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis Autor Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Simone Martinelli, Marion Strullu, Eyad K. Fansa, Aurélie Caye, Alessandro De Luca, Francesca Romana Lepri, Radovan Dvorský, Luca Pannone, Stefano Paolacci, S.-C. Zhang, V. Fodale, Gianfranco Bocchinfuso, Cesare Rossi, Emma Burkitt‐Wright, Andrea Farrotti, Emilia Stellacci, Serena Cecchetti, Rosangela Ferese, Lisabianca Bottero, S. Castro, Odile Fenneteau, Benoît Brethon, Massimo Sanchez, Amy E. Roberts, Helger G. Yntema, I. van der Bürgt, Paola Cianci, M.-L. Bondeson, M. Cristina Digilio, Giuseppe Zampino, Briedgeen Kerr, Y. Aoki, Mignon L. Loh, Antonio Palleschi, Elia Di Schiavi, Alessandra Carè, Angelo Selicorni, Bruno Dallapiccola, Ion Cristian Cirstea, Lorenzo Stella, Martin Zenker, Bruce D. Gelb, Hélène Cavé, Mohammad Reza Ahmadian, Marco Tartaglia
Vydáno 2014Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Mutation
Cancer research
Noonan syndrome
Phenotype
KRAS
Missense mutation
Costello syndrome
Cell biology
Medicine
Signal transduction
Biochemistry
Germline mutation
PTPN11
Enzyme
Germline
Immunology
MAPK/ERK pathway
Endocrinology
HRAS
Immune system
Internal medicine
Neuroblastoma RAS viral oncogene homolog
Neuroscience
Acquired immune system
Antigen-presenting cell
Cell cycle
Cytotoxic T cell