Search Results - "Pantaleoni, Francesca"

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling by Motta, Marialetizia, Fidan, Miray, Bellacchio, Emanuele, Pantaleoni, Francesca, Schneider-Heieck, Konstantin, Coppola, Simona, Borck, Guntram, Salviati, Leonardo, Zenker, Martin, Cirstea, Ion C, Tartaglia, Marco

“…Abstract Noonan syndrome (NS), the most common RASopathy, is caused by mutations affecting signaling through RAS and the MAPK cascade. Recently, genome…”
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications by Lissewski, Christina, Chune, Valérie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Radio, Francesca Clementina, Kutsche, Kerstin, Kuechler, Alma, Gérard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Digilio, Maria Cristina, Cave, Hélène, Tartaglia, Marco, Zenker, Martin

“…RASopathies are caused by variants in genes encoding components or modulators of the RAS/MAPK signaling pathway. Noonan syndrome is the most common entity…”
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Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency by Dentici, Maria Lisa, Barresi, Sabina, Niceta, Marcello, Pantaleoni, Francesca, Pizzi, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Digilio, Maria Cristina

“…Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial…”
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When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort by Scott, Alexandra, Di Giosaffatte, Niccolò, Pinna, Valentina, Daniele, Paola, Corno, Sara, D’Ambrosio, Valentina, Andreucci, Elena, Marozza, Annabella, Sirchia, Fabio, Tortora, Giada, Mangiameli, Daniela, Di Marco, Chiara, Romagnoli, Maria, Donati, Ilaria, Zonta, Andrea, Grosso, Enrico, Naretto, Valeria Giorgia, Mastromoro, Gioia, Versacci, Paolo, Pantaleoni, Francesca, Radio, Francesca Clementina, Mazza, Tommaso, Damante, Giuseppe, Papi, Laura, Mattina, Teresa, Giancotti, Antonella, Pizzuti, Antonio, Laberge, Anne-Marie, Tartaglia, Marco, Delrue, Marie-Ange, De Luca, Alessandro

“…Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions,…”
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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered by Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, De Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin

“…The RASopathies are a group of clinically and genetically heterogeneous developmental disorders caused by dysregulation of the RAS/MAPK signalling pathway…”
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TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations by Niceta, Marcello, Barresi, Sabina, Pantaleoni, Francesca, Capolino, Rossella, Dentici, Maria Lisa, Ciolfi, Andrea, Pizzi, Simone, Bartuli, Andrea, Dallapiccola, Bruno, Tartaglia, Marco, Digilio, Maria Cristina

“…TARP syndrome (TARPS) is an X-linked syndromic condition including Robin sequence, congenital heart defects, developmental delay, feeding difficulties and…”
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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations by DENTICI, Maria Lisa, SARKOZY, Anna, ZAMPINO, Giuseppe, TARTAGLIA, Marco, DALLAPICCOLA, Bruno, PANTALEONI, Francesca, CARTA, Claudio, LEPRI, Francesca, FERESE, Rosangela, CORDEDDU, Viviana, MARTINELLI, Simone, BRIUGLIA, Silvana, DIGILIO, Maria Cristina

“…Cardio-facio-cutaneous syndrome (CFCS) is a rare disease characterized by mental retardation, facial dysmorphisms, ectodermal abnormalities, heart defects and…”
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Genotype and phenotype spectrum of NRAS germline variants by Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin

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Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2 by Bocchinfuso, Gianfranco, Stella, Lorenzo, Martinelli, Simone, Flex, Elisabetta, Carta, Claudio, Pantaleoni, Francesca, Pispisa, Basilio, Venanzi, Mariano, Tartaglia, Marco, Palleschi, Antonio

“…Mutations of the protein tyrosine phosphatase SHP‐2 are implicated in human diseases, causing Noonan syndrome (NS) and related developmental disorders or…”
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function by Lam, Michael T, Coppola, Simona, Krumbach, Oliver H F, Prencipe, Giusi, Insalaco, Antonella, Cifaldi, Cristina, Brigida, Immacolata, Zara, Erika, Scala, Serena, Di Cesare, Silvia, Martinelli, Simone, Di Rocco, Martina, Pascarella, Antonia, Niceta, Marcello, Pantaleoni, Francesca, Ciolfi, Andrea, Netter, Petra, Carisey, Alexandre F, Diehl, Michael, Akbarzadeh, Mohammad, Conti, Francesca, Merli, Pietro, Pastore, Anna, Levi Mortera, Stefano, Camerini, Serena, Farina, Luciapia, Buchholzer, Marcel, Pannone, Luca, Cao, Tram N, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Basso-Ricci, Luca, Chiriaco, Maria, Dvorsky, Radovan, Putignani, Lorenza, Carsetti, Rita, Janning, Petra, Stray-Pedersen, Asbjorg, Erichsen, Hans Christian, Horne, AnnaCarin, Bryceson, Yenan T, Torralba-Raga, Lamberto, Ramme, Kim, Rosti, Vittorio, Bracaglia, Claudia, Messia, Virginia, Palma, Paolo, Finocchi, Andrea, Locatelli, Franco, Chinn, Ivan K, Lupski, James R, Mace, Emily M, Cancrini, Caterina, Aiuti, Alessandro, Ahmadian, Mohammad R, Orange, Jordan S, De Benedetti, Fabrizio, Tartaglia, Marco

“…Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated…”
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Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome by Bauer, Christiane K., Calligari, Paolo, Radio, Francesca Clementina, Caputo, Viviana, Dentici, Maria Lisa, Falah, Nadia, High, Frances, Pantaleoni, Francesca, Barresi, Sabina, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Person, Richard, Richards, Sarah, Cho, Megan T., Claps Sepulveda, Daniela J., Pro, Stefano, Battini, Roberta, Zampino, Giuseppe, Digilio, Maria Cristina, Bocchinfuso, Gianfranco, Dallapiccola, Bruno, Stella, Lorenzo, Tartaglia, Marco

“…Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac…”
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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes by Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, Konopatzki, Raphael, Walsh, Laurence, Payne, Katelyn, Pierpont, Mary Ella, Vergano, Samantha Schrier, Langley, Katherine G., Larsen, Douglas, Farwell, Kelly D., Tang, Sha, Mroske, Cameron, Gallotta, Ivan, Di Schiavi, Elia, della Monica, Matteo, Lugli, Licia, Rossi, Cesare, Seri, Marco, Cocchi, Guido, Henderson, Lindsay, Baskin, Berivan, Alders, Mariëlle, Mendoza-Londono, Roberto, Dupuis, Lucie, Nickerson, Deborah A., Chong, Jessica X., Meeks, Naomi, Brown, Kathleen, Causey, Tahnee, Cho, Megan T., Demuth, Stephanie, Digilio, Maria Cristina, Gelb, Bruce D., Bamshad, Michael J., Zenker, Martin, Ahmadian, Mohammad Reza, Hennekam, Raoul C., Tartaglia, Marco, Mirzaa, Ghayda M.

“…Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity…”
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Zoledronic acid repolarizes tumour‐associated macrophages and inhibits mammary carcinogenesis by targeting the mevalonate pathway by Coscia, Marta, Quaglino, Elena, Iezzi, Manuela, Curcio, Claudia, Pantaleoni, Francesca, Riganti, Chiara, Holen, Ingunn, Mönkkönen, Hannu, Boccadoro, Mario, Forni, Guido, Musiani, Piero, Bosia, Amalia, Cavallo, Federica, Massaia, Massimo

“…It is unknown whether zoledronic acid (ZA) at clinically relevant doses is active against tumours not located in bone. Mice transgenic for the activated ErbB‐2…”
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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype by Motta, Marialetizia, Fasano, Giulia, Gredy, Sina, Brinkmann, Julia, Bonnard, Adeline Alice, Simsek-Kiper, Pelin Ozlem, Gulec, Elif Yilmaz, Essaddam, Leila, Utine, Gulen Eda, Guarnetti Prandi, Ingrid, Venditti, Martina, Pantaleoni, Francesca, Radio, Francesca Clementina, Ciolfi, Andrea, Petrini, Stefania, Consoli, Federica, Vignal, Cédric, Hepbasli, Denis, Ullrich, Melanie, de Boer, Elke, Vissers, Lisenka E.L.M., Gritli, Sami, Rossi, Cesare, De Luca, Alessandro, Ben Becher, Saayda, Gelb, Bruce D., Dallapiccola, Bruno, Lauri, Antonella, Chillemi, Giovanni, Schuh, Kai, Cavé, Hélène, Zenker, Martin, Tartaglia, Marco

“…Upregulated signal flow through RAS and the mitogen-associated protein kinase (MAPK) cascade is the unifying mechanistic theme of the RASopathies, a family of…”
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Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy by Motta, Marialetizia, Sagi-Dain, Lena, Krumbach, Oliver H F, Hahn, Andreas, Peleg, Amir, German, Alina, Lissewski, Christina, Coppola, Simona, Pantaleoni, Francesca, Kocherscheid, Luisa, Altmüller, Franziska, Schanze, Denny, Logeswaran, Thushiha, Chahrokh-Zadeh, Soheyla, Munzig, Anna, Nakhaei-Rad, Saeideh, Cavé, Hélène, Ahmadian, Mohammad R, Tartaglia, Marco, Zenker, Martin

“…The RASopathies are a group of genetic syndromes caused by upregulated RAS signaling. Noonan syndrome (NS), the most common entity among the RASopathies, is…”
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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment by Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan

“…The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple membrane modeling and membrane-independent cellular processes. Here…”
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Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants by Priolo, Manuela, Zara, Erika, Radio, Francesca Clementina, Ciolfi, Andrea, Spadaro, Francesca, Bellacchio, Emanuele, Mancini, Cecilia, Pantaleoni, Francesca, Cordeddu, Viviana, Chiriatti, Luigi, Niceta, Marcello, Africa, Emilio, Mammì, Corrado, Melis, Daniela, Coppola, Simona, Tartaglia, Marco

“…RAC1 is a member of the Rac/Rho GTPase subfamily within the RAS superfamily of small GTP-binding proteins, comprising 3 paralogs playing a critical role in…”
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Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome by Dentici, Maria Lisa, Barresi, Sabina, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Bruselles, Alessandro, Pantaleoni, Francesca, Danieli, Alberto, Iarossi, Giancarlo, Cappa, Marco, Bertini, Enrico, Tartaglia, Marco, Zanni, Ginevra

“…ITPR1 encodes an intracellular receptor for inositol 1,4,5-trisphosphate (InsP3) which is highly expressed in the cerebellum and is involved in the regulation…”
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Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism by Dentici, Maria Lisa, Niceta, Marcello, Pantaleoni, Francesca, Barresi, Sabina, Bencivenga, Paola, Dallapiccola, Bruno, Digilio, Maria Cristina, Tartaglia, Marco

“…Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of…”
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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome by Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco

“…Abstract We previously molecularly and clinically characterized Mazzanti syndrome, a RASopathy related to Noonan syndrome that is mostly caused by a single…”
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