Search Results - "DEGIORGIO, Dario"

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression by Degiorgio, Dario, Crosignani, Andrea, Colombo, Carla, Bordo, Domenico, Zuin, Massimo, Vassallo, Emanuela, Syrén, Marie-Louise, Coviello, Domenico A., Battezzati, Pier Maria

“…Background The ABCB4 gene encodes the MDR3 protein. Mutations of this gene cause progressive familial intrahepatic cholestasis type 3 (PFIC3) in children, but…”
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Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy by Cecconi, Massimiliano, Parodi, Maria I, Formisano, Francesco, Spirito, Paolo, Autore, Camillo, Musumeci, Maria B, Favale, Stefano, Forleo, Cinzia, Rapezzi, Claudio, Biagini, Elena, Davì, Sabrina, Canepa, Elisabetta, Pennese, Loredana, Castagnetta, Mauro, Degiorgio, Dario, Coviello, Domenico A

“…Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to…”
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Clinical Features and Genotype‐Phenotype Correlations in Children With Progressive Familial Intrahepatic Cholestasis Type 3 Related to ABCB4 Mutations by Colombo, Carla, Vajro, Pietro, Degiorgio, Dario, Coviello, Domenico A, Costantino, Lucy, Tornillo, Luigi, Motta, Valentina, Consonni, Dario, Maggiore, Giuseppe

“…ABSTRACT Objectives: The aim of the study was to estimate the frequency of ABCB4 mutations among children with chronic intrahepatic cholestasis with elevated…”
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Amniotic Mesenchymal Stem Cells: A New Source for Hepatocyte-Like Cells and Induction of CFTR Expression by Coculture with Cystic Fibrosis Airway Epithelial Cells by Paracchini, Valentina, Carbone, Annalucia, Colombo, Federico, Castellani, Stefano, Mazzucchelli, Silvia, Di Gioia, Sante, Degiorgio, Dario, Seia, Manuela, Porretti, Laura, Colombo, Carla, Conese, Massimo

“…Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, with lung and liver manifestations…”
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Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) by DEGIORGIO, Dario, COLOMBO, Carla, SEIA, Manuela, PORCARO, Luigi, COSTANTINO, Lucy, ZAZZERON, Laura, BORDO, Domenico, COVIELLO, Domenico A

“…Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive disorder due to mutations in the ATP-binding cassette, subfamily B,…”
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Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction by Degiorgio, Dario, Corsetto, Paola A, Rizzo, Angela M, Colombo, Carla, Seia, Manuela, Costantino, Lucy, Montorfano, Gigliola, Tomaiuolo, Rossella, Bordo, Domenico, Sansanelli, Serena, Li, Min, Tavian, Daniela, Rastaldi, Maria P, Coviello, Domenico A

“…The ABCB4 gene encodes for MDR3, a protein that translocates phosphatidylcholine from the inner to the outer leaflet of the hepatocanalicular membrane; its…”
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A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients by Costantino, Lucy, Claut, Laura, Paracchini, Valentina, Coviello, Domenico A, Colombo, Carla, Porcaro, Luigi, Capasso, Patrizia, Zanardelli, Maddalena, Pizzamiglio, Giovanna, Degiorgio, Dario, Seia, Manuela

“…Abstract Background The CFTR gene is tightly regulated and differentially expressed in many mucosal epithelial cell types. There is evidence of an increasing…”
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Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss by Primignani, Paola, Trotta, Luca, Castorina, Pierangela, Lalatta, Faustina, Sironi, Francesca, Radaelli, Chiara, Degiorgio, Dario, Curcio, Cristina, Travi, Maurizio, Ambrosetti, Umberto, Cesarani, Antonio, Garavelli, Livia, Formigoni, Patrizia, Milani, Donatella, Murri, Alessandra, Cuda, Domenico, Coviello, Domenico Antonio

“…Mutations in the GJB2 gene, which encodes the gap-junction protein connexin 26, are the most common cause of nonsyndromic hearing loss (NSHL) and account for…”
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Amniotic Mesenchymal Stem Cells : A New Source for Hepatocyte-Like Cells and Induction of CFTR Expression by Coculture with Cystic Fibrosis Airway Epithelial Cells by Paracchini, Valentina, Carbone, Annalucia, Colombo, Federico, Castellani, Stefano, Mazzucchelli, Silvia, Di Gioia, Sante, Degiorgio, Dario, Seia, Manuela, Porretti, Laura, Colombo, Carla, Conese, Massimo

“…Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, with lung and liver manifestations…”
Get full text