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Simone Martinelli

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Chemicals & Drugs

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Hela Cells

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DNA Mutational Analysis

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Simone Martinelli; Cesare Rossi; Isabella Screpanti; Marianna Silvano; Emilia Stellacci; Andrea Biondi; Giovanni Cazzaniga; Saula Checquolo; Federica Consoli; Carla Cossu; Alessandro De Luca; Elisabetta Flex; Robin Foà; Giulia Franciosa; Marco Tartaglia
Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia.
Simone Martinelli; Aurelio P Nardozza; Antonio Palleschi; Gilda Sabetta; Lorenzo Stella; Gianfranco Bocchinfuso; Luisa Castagnoli; Gianni Cesareni; Silvia Delle Vigne; Elisabetta Flex; Bruce D Gelb; Paola Torreri; Serenella Venanzi; Marco Tartaglia
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
Marialetizia Motta; Serena Camerini; Marco Crescenzi; Simone Martinelli; Susanna Scarpa; Marco Tartaglia; Massimo Tatti; Rosa Salvioli
Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C.

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All Publications

2012: Simone Martinelli; Cesare Rossi; Isabella Screpanti; Marianna Silvano; Emilia Stellacci; Andrea Biondi; Giovanni Cazzaniga; Saula Checquolo; Federica Consoli; Carla Cossu; Alessandro De Luca; Elisabetta Flex; Robin Foà; Giulia Franciosa; Marco Tartaglia
Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia.
British journal of haematology 2012;159(1):115-9.
2012: Simone Martinelli; Aurelio P Nardozza; Antonio Palleschi; Gilda Sabetta; Lorenzo Stella; Gianfranco Bocchinfuso; Luisa Castagnoli; Gianni Cesareni; Silvia Delle Vigne; Elisabetta Flex; Bruce D Gelb; Paola Torreri; Serenella Venanzi; Marco Tartaglia
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
The Journal of biological chemistry 2012;287(32):27066-77.
2011: Marialetizia Motta; Serena Camerini; Marco Crescenzi; Simone Martinelli; Susanna Scarpa; Marco Tartaglia; Massimo Tatti; Rosa Salvioli
Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C.
Protein expression and purification 2011;78(2):209-15.
2010: Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria Cristina Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
American journal of human genetics 2010;87(2):250-7.
2009: Simone Martinelli; Heather P McDowell; Silvia Delle Vigne; George Kokai; Stefania Uccini; Marco Tartaglia; Carlo Dominici
RAS signaling dysregulation in human embryonal Rhabdomyosarcoma.
Genes, chromosomes & cancer 2009;48(11):975-82.
2008: Simone Martinelli; Paola Torreri; Michele Tinti; Lorenzo Stella; Gianfranco Bocchinfuso; Elisabetta Flex; Alessandro Grottesi; Marina Ceccarini; Antonio Palleschi; Gianni Cesareni; Luisa Castagnoli; Tamara C Petrucci; Bruce D Gelb; Marco Tartaglia
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Human molecular genetics 2008;17(13):2018-29.
2008: Elisabetta Flex; Valentina Petrangeli; Lorenzo Stella; Sabina Chiaretti; Tekla Hornakova; Laurent Knoops; Cristina Ariola; Valentina Fodale; Emmanuelle Clappier; Francesca Paoloni; Simone Martinelli; Alessandra Fragale; Massimo Sanchez; Simona Tavolaro; Monica Messina; Giovanni Cazzaniga; ANDREA CAMERA; Giovanni Pizzolo; Assunta Tornesello; Marco Vignetti; Angela Battistini; Hélène Cavé; Bruce D Gelb; Jean-Christophe Renauld; Andrea Biondi; Stefan N Constantinescu; Robin Foà; Marco Tartaglia
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.
The Journal of experimental medicine 2008;205(4):751-8.
2007: Bhaswati Pandit; Anna Sarkozy; Len A Pennacchio; Claudio Carta; Kimihiko Oishi; Simone Martinelli; Edgar A Pogna; Wendy Schackwitz; Anna Ustaszewska; Andrew P Landstrom; J Martijn Bos; Steve R Ommen; Giorgia Esposito; Francesca Lepri; Faul Christian; Peter Mundel; Juan Pedro López-Siguero; Romano Tenconi; Angelo Selicorni; cesare rossi; Laura Mazzanti; Isabella Torrente; Bruno Marino; Maria Cristina Digilio; Giuseppe Zampino; Michael J Ackerman; Bruno Dallapiccola; Marco Tartaglia; Bruce D Gelb
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nature genetics 2007;39(8):1007-12.
2007: Gianfranco Bocchinfuso; Lorenzo Stella; Simone Martinelli; Elisabetta Flex; Claudio Carta; Francesca Pantaleoni; Basilio Pispisa; Mariano Venanzi; Marco Tartaglia; Antonio Palleschi
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.
Proteins 2007;66(4):963-74.
2007: Marco Tartaglia; Len A Pennacchio; Chen Zhao; Kamlesh K Yadav; Valentina Fodale; Anna Sarkozy; Bhaswati Pandit; Kimihiko Oishi; Simone Martinelli; Wendy Schackwitz; Anna Ustaszewska; Joel Martin; James Bristow; Claudio Carta; Francesca Lepri; Cinzia Neri; Isabella Vasta; Kate Gibson; Cynthia J R Curry; Juan Pedro López Siguero; Maria Cristina Digilio; Giuseppe Zampino; Bruno Dallapiccola; Dafna Bar-Sagi; Bruce D Gelb
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Nature genetics 2007;39(1):75-9.
2006: Sandra Cappellacci; Simone Martinelli; Rosanna Rinaldi; E Martinelli; Pasquale Parisi; Barbara Mancini; R Pescosolido; Paola Grammatico
De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.
American journal of medical genetics. Part A 2006;140(11):1203-7.
2006: Simone Martinelli; Claudio Carta; Elisabetta Flex; Francesco Binni; Emanuela Lucci Cordisco; Sonia Moretti; Efisio Puxeddu; Massimo Tonacchera; Aldo Pinchera; Heather P McDowell; Carlo Dominici; Angelo Rosolen; Concezio Di Rocco; Riccardo Riccardi; Paolo Celli; Mauro Picardo; Maurizio Genuardi; Paola Grammatico; Mariella Sorcini; Marco Tartaglia
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Cancer genetics and cytogenetics 2006;166(2):124-9.
2006: Marco Tartaglia; Simone Martinelli; Lorenzo Stella; Gianfranco Bocchinfuso; Elisabetta Flex; Viviana Cordeddu; Giuseppe Zampino; Ineke van der Burgt; Antonio Palleschi; Tamara C Petrucci; Mariella Sorcini; Claudia Schoch; Robin Foa; Peter D Emanuel; Bruce D Gelb
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
American journal of human genetics 2006;78(2):279-90.
2005: Bianca Goemans; Christian M Zwaan; Simone Martinelli; Patina Harrell; Desiree de Lange; Claudio Carta; Dirk Reinhardt; Karel Hählen; Ursula Creutzig; Marco Tartaglia; Michael C Heinrich; G J L Kaspers
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
British journal of haematology 2005;130(5):801-3.
2005: Marco Tartaglia; Simone Martinelli; IVANO IAVARONE; Giovanni Cazzaniga; Monica Spinelli; Emanuela Giarin; Valentina Petrangeli; Claudio Carta; Riccardo Masetti; Maurizio Aricò; Franco Locatelli; Giuseppe Basso; Mariella Sorcini; Andrea Pession; Andrea Biondi
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
British journal of haematology 2005;129(3):333-9.
2005: Mignon L Loh; Simone Martinelli; Viviana Cordeddu; Melissa G Reynolds; Shashaank Vattikuti; Connie M Lee; Michael Wulfert; Ulrich Germing; Peter Haas; Charlotte Niemeyer; Miloslav E Beran; Sara Strom; Michael Lübbert; Mariella Sorcini; Elihu H Estey; Norbert Gattermann; Marco Tartaglia
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.
Leukemia research 2005;29(4):459-62.
2004: Marco Tartaglia; Simone Martinelli; Giovanni Cazzaniga; Viviana Cordeddu; IVANO IAVARONE; Monica Spinelli; Chiara Palmi; Claudio Carta; Andrea Pession; Maurizio Aricò; Giuseppe Masera; Giuseppe Basso; Mariella Sorcini; Bruce D Gelb; Andrea Biondi
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
Blood 2004;104(2):307-13.
2000: S Fiumicino; Simone Martinelli; Claudia Colussi; Gabriele Aquilina; Carlo Leonetti; Marco Crescenzi; Margherita Bignami
Sensitivity to DNA cross-linking chemotherapeutic agents in mismatch repair-defective cells in vitro and in xenografts.
International journal of cancer. Journal international du cancer 2000;85(4):590-6.
2000: Gabriele Aquilina; S Ceccotti; Simone Martinelli; Silvia Soddu; Marco Crescenzi; P Branch; Peter Karran; Margherita Bignami
Mismatch repair and p53 independently affect sensitivity to N-(2-chloroethyl)-N'-cyclohexyl-N-nitrosourea.
Clinical cancer research : an official journal of the American Association for Cancer Research 2000;6(2):671-80.
1999: Mark O'Driscoll; Simone Martinelli; C Ciotta; Peter Karran
Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV- or ionizing radiation-induced DNA damage.
Carcinogenesis 1999;20(5):799-804.
1998: Gabriele Aquilina; S Ceccotti; Simone Martinelli; R Hampson; Margherita Bignami
N-(2-chloroethyl)-N'-cyclohexyl-N-nitrosourea sensitivity in mismatch repair-defective human cells.
Cancer research 1998;58(1):135-41.
1997: Paola Vaccaro; Luciana Dente; Franco Onofri; Adriana Zucconi; Simone Martinelli; Flavia Valtorta; Paul Greengard; Gianni Cesareni; Fabio Benfenati
Anti-synapsin monoclonal antibodies: epitope mapping and inhibitory effects on phosphorylation and Grb2 binding.
Brain research. Molecular brain research 1997;52(1):1-16.
1997: Gabriele Aquilina; S Fiumicino; Andrea Zijno; Simone Martinelli; Wilhelmina J I Overkamp; Malgorzata Z Zdzienicka; M Oshimura; C P Wild; Margherita Bignami
Reversal of methylation tolerance by transfer of human chromosome 2.
Mutation research 1997;385(2):115-26.
1997: P Bonetti; Liliana Chemello; C Antona; A Breda; P Brosolo; P Casarin; C Crivellàro; G Donà; Simone Martinelli; R Rinaldi; V Zennaro; M Santonastaso; F Urban; Patrizia Pontisso; Alfredo Alberti
Treatment of chronic hepatitis C with interferon-alpha by monitoring the response according to viraemia.
Journal of viral hepatitis 1997;4(2):107-12.