L
Laura Mazzanti
Researcher at University of Bologna
Publications - 211
Citations - 7034
Laura Mazzanti is an academic researcher from University of Bologna. The author has contributed to research in topics: Membrane fluidity & Turner syndrome. The author has an hindex of 40, co-authored 206 publications receiving 6394 citations.
Papers
More filters
Journal ArticleDOI
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
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 Romana Lepri,Christian Faul,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,Marco Tartaglia,Bruce D. Gelb +29 more
TL;DR: Ectopically expressed RAF1 mutants from the two HCM hotspots had increased kinase activity and enhanced ERK activation, whereas non–HCM-associated mutants were kinase impaired, which implicate increased RAS signaling in pathological cardiomyocyte hypertrophy.
Journal ArticleDOI
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu,Elia Di Schiavi,Len A. Pennacchio,Len A. Pennacchio,Avi Ma'ayan,Anna Sarkozy,Valentina Fodale,Valentina Fodale,Serena Cecchetti,Alessio Cardinale,Joel Martin,Wendy Schackwitz,Anna Lipzen,Giuseppe Zampino,Laura Mazzanti,Maria Cristina Digilio,Simone Martinelli,Elisabetta Flex,Francesca Romana Lepri,Deborah Bartholdi,Kerstin Kutsche,Giovanni Battista Ferrero,Cecilia Anichini,Angelo Selicorni,Cesare Rossi,Romano Tenconi,Martin Zenker,Daniela Merlo,Bruno Dallapiccola,Bruno Dallapiccola,Ravi Iyengar,Paolo Bazzicalupo,Bruce D. Gelb,Marco Tartaglia +33 more
TL;DR: It is shown that aberrantly acquired N-myristoylation of SHOC2, a leucine-rich repeat–containing protein that positively modulates RAS-MAPK signal flow, underlies a clinically distinctive condition of the neuro-cardio-facial-cutaneous disorders family.
Journal ArticleDOI
A restricted spectrum of NRAS mutations causes Noonan syndrome
Ion C. Cirstea,Kerstin Kutsche,Radovan Dvorsky,Lothar Gremer,Claudio Carta,Denise Horn,Amy E. Roberts,Amy E. Roberts,Francesca Romana Lepri,Torsten Merbitz-Zahradnik,Rainer König,Christian P. Kratz,Francesca Pantaleoni,Maria Lisa Dentici,Victoria A. Joshi,Victoria A. Joshi,Raju Kucherlapati,Laura Mazzanti,Stefan Mundlos,Michael A. Patton,Margherita Silengo,Cesare Rossi,Giuseppe Zampino,Cristina Digilio,Liborio Stuppia,Eva Seemanova,Len A. Pennacchio,Len A. Pennacchio,Bruce D. Gelb,Bruno Dallapiccola,Alfred Wittinghofer,Mohammad Reza Ahmadian,Marco Tartaglia,Martin Zenker +33 more
TL;DR: Evidence is provided for an obligate dependency on proper NRAS function in human development and growth and for germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation in some cases of Noonan syndrome.
Journal ArticleDOI
Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum
Anna Sarkozy,Claudio Carta,Sonia Moretti,Giuseppe Zampino,Maria 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 +26 more
TL;DR: To investigate the phenotypic spectrum and molecular diversity of germline mutations affecting BRAF, subjects with a diagnosis of NS, LS, and CFCS were screened for the entire coding sequence of the gene.
Journal ArticleDOI
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
Jennifer J. Johnston,Isabelle M. Olivos-Glander,Christina Killoran,Emma Elson,Joyce T. Turner,Kathryn F. Peters,Margaret H. Abbott,David J. Aughton,Arthur S. Aylsworth,Michael J. Bamshad,Carol Booth,Cynthia J. Curry,Albert David,Mary Beth Dinulos,David B. Flannery,Michelle Fox,John M. Graham,John M. Graham,Dorothy K. Grange,Alan E. Guttmacher,Mark C. Hannibal,Wolfram Henn,Raoul C.M. Hennekam,Lewis B. Holmes,H. Eugene Hoyme,Kathleen A. Leppig,Angela E. Lin,Patrick MacLeod,David K. Manchester,Carlo Marcelis,Laura Mazzanti,Emma McCann,Marie T. McDonald,Nancy J. Mendelsohn,John B. Moeschler,Billur Moghaddam,Giovanni Neri,Ruth Newbury-Ecob,Roberta A Pagon,John A. Phillips,Laurie S. Sadler,Joan M. Stoler,David Tilstra,Catherine Walsh Vockley,Elaine H. Zackai,Touran M. Zadeh,Louise Brueton,Graeme C.M. Black,Leslie G. Biesecker +48 more
TL;DR: A robust correlation of genotype and phenotype for GLI3 mutations is demonstrated and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.