Search Results - "SAVOIA, Anna"

Molecular basis of inherited thrombocytopenias: an update by Savoia, Anna

“…PURPOSE OF REVIEWInherited thrombocytopenias are a heterogeneous group of diseases caused by mutations in many genes. They account for approximately only 50%…”
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MYH9: Structure, functions and role of non-muscle myosin IIA in human disease by Pecci, Alessandro, Ma, Xuefei, Savoia, Anna, Adelstein, Robert S.

“…The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed cytoplasmic myosin that participates in a variety of processes requiring the…”
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Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias by Balduini, Carlo L., Pecci, Alessandro, Savoia, Anna

“…Summary MYH9‐related disease (MYH9‐RD) is one of the most frequent forms of inherited thrombocytopenia. It is transmitted in an autosomal dominant fashion and…”
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Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia by Capaci, Valeria, Adam, Etai, Bar-Joseph, Ifat, Faleschini, Michela, Pecci, Alessandro, Savoia, Anna

“…Congenital amegakaryocytic thrombocytopenia (CAMT) is a recessive disorder characterized by severe reduction of megakaryocytes and platelets at birth, which…”
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Genetics of familial forms of thrombocytopenia by Balduini, Carlo L., Savoia, Anna

“…The joint application of clinical and genetic investigation to patients with inherited thrombocytopenias, as well as the availability of new methods for…”
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MYH9 gene mutations associated with bleeding by Savoia, Anna, De Rocco, Daniela, Pecci, Alessandro

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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families by Noris, Patrizia, Perrotta, Silverio, Seri, Marco, Pecci, Alessandro, Gnan, Chiara, Loffredo, Giuseppe, Pujol-Moix, Nuria, Zecca, Marco, Scognamiglio, Francesca, De Rocco, Daniela, Punzo, Francesca, Melazzini, Federica, Scianguetta, Saverio, Casale, Maddalena, Marconi, Caterina, Pippucci, Tommaso, Amendola, Giovanni, Notarangelo, Lucia D., Klersy, Catherine, Civaschi, Elisa, Balduini, Carlo L., Savoia, Anna

“…Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known…”
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia by Melazzini, Federica, Palombo, Flavia, Balduini, Alessandra, De Rocco, Daniela, Marconi, Caterina, Noris, Patrizia, Gnan, Chiara, Pippucci, Tommaso, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Doubek, Michael, Di Buduo, Christian A, Kozubik, Katerina Stano, Radova, Lenka, Loffredo, Giuseppe, Pospisilova, Sarka, Alfano, Caterina, Seri, Marco, Balduini, Carlo L, Pecci, Alessandro, Savoia, Anna

“…ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to…”
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Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event by Persico, Ilaria, Fiscarelli, Ilaria, Pelle, Alessandra, Faleschini, Michela, Pasini, Barbara, Savoia, Anna, Bottega, Roberta

“…Somatic mosaicism appears as a recurrent phenomenon among patients suffering from Fanconi anemia (FA), but its direct prognostic significance mostly remains an…”
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MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations by Pecci, Alessandro, Klersy, Catherine, Gresele, Paolo, Lee, Kieran J.D., De Rocco, Daniela, Bozzi, Valeria, Russo, Giovanna, Heller, Paula G., Loffredo, Giuseppe, Ballmaier, Matthias, Fabris, Fabrizio, Beggiato, Eloise, Kahr, Walter H.A., Pujol-Moix, Nuria, Platokouki, Helen, Van Geet, Christel, Noris, Patrizia, Yerram, Preethi, Hermans, Cedric, Gerber, Bernhard, Economou, Marina, De Groot, Marco, Zieger, Barbara, De Candia, Erica, Fraticelli, Vincenzo, Kersseboom, Rogier, Piccoli, Giorgina B., Zimmermann, Stefanie, Fierro, Tiziana, Glembotsky, Ana C., Vianello, Fabrizio, Zaninetti, Carlo, Nicchia, Elena, Güthner, Christiane, Baronci, Carlo, Seri, Marco, Knight, Peter J., Balduini, Carlo L., Savoia, Anna

“…ABSTRACT MYH9‐related disease (MYH9‐RD) is a rare autosomal‐dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC‐IIA)…”
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ANKRD26-related thrombocytopenia and myeloid malignancies by Noris, Patrizia, Favier, Remi, Alessi, Marie-Christine, Geddis, Amy E., Kunishima, Shinji, Heller, Paula G., Giordano, Paola, Niederhoffer, Karen Y., Bussel, James B., Podda, Gian Marco, Vianelli, Nicola, Kersseboom, Rogier, Pecci, Alessandro, Gnan, Chiara, Marconi, Caterina, Auvrignon, Anne, Cohen, William, Yu, Jennifer C., Iguchi, Akihiro, Miller Imahiyerobo, Allison, Boehlen, Francoise, Ghalloussi, Dorsaf, De Rocco, Daniela, Magini, Pamela, Civaschi, Elisa, Biino, Ginevra, Seri, Marco, Savoia, Anna, Balduini, Carlo L.

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Spectrum of the Mutations in Bernard-Soulier Syndrome by Savoia, Anna, Kunishima, Shinji, De Rocco, Daniela, Zieger, Barbara, Rand, Margaret L., Pujol-Moix, Nuria, Caliskan, Umran, Tokgoz, Huseyin, Pecci, Alessandro, Noris, Patrizia, Srivastava, Alok, Ward, Christopher, Morel-Kopp, Marie-Christine, Alessi, Marie-Christine, Bellucci, Sylvia, Beurrier, Philippe, de Maistre, Emmanuel, Favier, Rémi, Hézard, Nathalie, Hurtaud-Roux, Marie-Françoise, Latger-Cannard, Véronique, Lavenu-Bombled, Cécile, Proulle, Valérie, Meunier, Sandrine, Négrier, Claude, Nurden, Alan, Randrianaivo, Hanitra, Fabris, Fabrizio, Platokouki, Helen, Rosenberg, Nurit, HadjKacem, Basma, Heller, Paula G., Karimi, Mehran, Balduini, Carlo L., Pastore, Annalisa, Lanza, Francois

“…ABSTRACT Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb‐IX‐V complex, a platelet receptor…”
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ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism by Faleschini, Michela, Ammeti, Daniele, Papa, Nicole, Alfano, Caterina, Bottega, Roberta, Fontana, Giorgia, Capaci, Valeria, Zanchetta, Melania E, Pozzani, Federico, Montanari, Francesca, Petroni, Valeria, Giordano, Paola, Noris, Patrizia, Giona, Fiorina, Savoia, Anna

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Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim by Pecci, Alessandro, Ragab, Iman, Bozzi, Valeria, De Rocco, Daniela, Barozzi, Serena, Giangregorio, Tania, Ali, Heba, Melazzini, Federica, Sallam, Mohamed, Alfano, Caterina, Pastore, Annalisa, Balduini, Carlo L, Savoia, Anna

“…Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which…”
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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2 by Pippucci, Tommaso, Savoia, Anna, Perrotta, Silverio, Pujol-Moix, Núria, Noris, Patrizia, Castegnaro, Giovanni, Pecci, Alessandro, Gnan, Chiara, Punzo, Francesca, Marconi, Caterina, Gherardi, Samuele, Loffredo, Giuseppe, De Rocco, Daniela, Scianguetta, Saverio, Barozzi, Serena, Magini, Pamela, Bozzi, Valeria, Dezzani, Luca, Di Stazio, Mariateresa, Ferraro, Marcella, Perini, Giovanni, Seri, Marco, Balduini, Carlo L.

“…THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that…”
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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup by Marconi, Caterina, Pecci, Alessandro, Palombo, Flavia, Melazzini, Federica, Bottega, Roberta, Nardi, Elena, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Giangregorio, Tania, Magini, Pamela, Balduini, Carlo L, Savoia, Anna, Seri, Marco, Noris, Patrizia, Pippucci, Tommaso

“…Inherited thrombocytopenias (IT) are genetic diseases characterized by low platelet count, sometimes associated with congenital defects or a predisposition to…”
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A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly by Barozzi, Serena, Bozzi, Valeria, De Rocco, Daniela, Giangregorio, Tania, Noris, Patrizia, Savoia, Anna, Pecci, Alessandro

“…Bernard-Soulier syndrome (BSS) is an autosomal-recessive bleeding disorder caused by biallelic variants in the GP1BA, GP1BB, and GP9 genes encoding the…”
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Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations by Pecci, Alessandro, Gresele, Paolo, Klersy, Catherine, Savoia, Anna, Noris, Patrizia, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Anna Maria, Melazzini, Federica, Balduini, Carlo L.

“…Platelet transfusion is currently the primary medical treatment for reducing thrombocytopenia in patients with inherited thrombocytopenias. To evaluate whether…”
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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme by Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia by Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna

“…Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the…”
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