Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

por Peretto, Laura, Tonetto, Elena, Maestri, Iva, Bezzerri, Valentino, Valli, Roberto, Cipolli, Marco, Pinotti, Mirko, Balestra, Dario
Publicado 2023

Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy

por Grosch, Markus, Schraft, Laura, Chan, Adrian, Küchenhoff, Leonie, Rapti, Kleopatra, Ferreira, Anne-Maud, Kornienko, Julia, Li, Shengdi, Radke, Michael H., Krämer, Chiara, Clauder-Münster, Sandra, Perlas, Emerald, Backs, Johannes, Gotthardt, Michael, Dieterich, Christoph, van den Hoogenhof, Maarten M. G., Grimm, Dirk, Steinmetz, Lars M.
Publicado 2023

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

por Izzi, Claudia, Dordoni, Chiara, Delbarba, Elisa, Mazza, Cinzia, Savoldi, Gianfranco, Econimo, Laura, Cortinovis, Roberta, Zeni, Letizia, Martin, Eva, Alberici, Federico, Scolari, Francesco
Publicado 2022

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk

por Rocque, Mariève J., Leipart, Vilde, Kumar Singh, Ashish, Mur, Pilar, Olsen, Maren F., Engebretsen, Lars F., Martin-Ramos, Edgar, Aligué, Rosa, Sætrom, Pål, Valle, Laura, Drabløs, Finn, Otterlei, Marit, Sjursen, Wenche
Publicado 2023

Systematic Evaluation of Serotypes Causing Invasive Pneumococcal Disease among Children Under Five: The Pneumococcal Global Serotype Project

por Johnson, Hope L., Deloria-Knoll, Maria, Levine, Orin S., Stoszek, Sonia K., Freimanis Hance, Laura, Reithinger, Richard, Muenz, Larry R., O'Brien, Katherine L.
Publicado 2010

Whole-Genome Characterization and Strain Comparison of VT2f-Producing Escherichia coli Causing Hemolytic Uremic Syndrome

por Grande, Laura, Michelacci, Valeria, Bondì, Roslen, Gigliucci, Federica, Franz, Eelco, Badouei, Mahdi Askari, Schlager, Sabine, Minelli, Fabio, Tozzoli, Rosangela, Caprioli, Alfredo, Morabito, Stefano
Publicado 2016

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

por Orme, Tatiana, Hernandez, Dena, Ross, Owen A., Kun-Rodrigues, Celia, Darwent, Lee, Shepherd, Claire E., Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Morgan, Kevin, Troakes, Claire, Al-Sarraj, Safa, Lashley, Tammaryn, Holton, Janice, Compta, Yaroslau, Van Deerlin, Vivianna, Trojanowski, John Q., Serrano, Geidy E., Beach, Thomas G., Lesage, Suzanne, Galasko, Douglas, Masliah, Eliezer, Santana, Isabel, Pastor, Pau, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Revesz, Tamas, Lees, Andrew, Boeve, Brad F., Petersen, Ronald C., Ferman, Tanis J., Escott-Price, Valentina, Graff-Radford, Neill, Cairns, Nigel J., Morris, John C., Pickering-Brown, Stuart, Mann, David, Halliday, Glenda, Stone, David J., Dickson, Dennis W., Hardy, John, Singleton, Andrew, Guerreiro, Rita, Bras, Jose
Publicado 2020

Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia?

por Hertz, Laura, Huisjes, Rick, Llaudet-Planas, Esther, Petkova-Kirova, Polina, Makhro, Asya, Danielczok, Jens G., Egee, Stephane, del Mar Mañú-Pereira, Maria, van Wijk, Richard, Vives Corrons, Joan-Lluis, Bogdanova, Anna, Kaestner, Lars
Publicado 2017

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

por Flück, Christa E., Pandey, Amit V., Dick, Bernhard, Camats, Núria, Fernández-Cancio, Mónica, Clemente, María, Gussinyé, Miquel, Carrascosa, Antonio, Mullis, Primus E., Audi, Laura
Publicado 2011

Anti-N-Methyl-D-Aspartate Receptor Encephalitis Causing a Prolonged Depressive Disorder Evolving to Inflammatory Brain Disease

por Mariotto, Sara, Tamburin, Stefano, Salviati, Alessandro, Ferrari, Sergio, Zoccarato, Marco, Giometto, Bruno, Bertolasi, Laura, Alessandrini, Franco, Benedetti, Maria Donata, Monaco, Salvatore
Publicado 2014

Affinity Capillary Electrochromatography of Molecularly Imprinted Thin Layers Grafted onto Silica Capillaries Using a Surface-Bound Azo-Initiator and Living Polymerization

por Giovannoli, Cristina, Passini, Cinzia, Di Nardo, Fabio, Anfossi, Laura, Baggiani, Claudio, Nicholls, Ian A.
Publicado 2018

Perinatal Exposure to Phthalates: From Endocrine to Neurodevelopment Effects

por Lucaccioni, Laura, Trevisani, Viola, Passini, Erica, Righi, Beatrice, Plessi, Carlotta, Predieri, Barbara, Iughetti, Lorenzo
Publicado 2021

The Kids Are Alright (?). Infants’ Development and COVID-19 Pandemic: A Cross-Sectional Study

por Ferrari, Eleonora, Palandri, Lucia, Lucaccioni, Laura, Talucci, Giovanna, Passini, Erica, Trevisani, Viola, Righi, Elena
Publicado 2022

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

por Kauppila, Johanna H.K., Baines, Holly L., Bratic, Ana, Simard, Marie-Lune, Freyer, Christoph, Mourier, Arnaud, Stamp, Craig, Filograna, Roberta, Larsson, Nils-Göran, Greaves, Laura C., Stewart, James B.
Publicado 2016

“Differential risk of hospitalization among single virus infections causing influenza‐like illnesses”

por Ortiz‐Hernández, Ana A., Nishimura, Katherine K., Noyola, Daniel E., Moreno‐Espinosa, Sarbelio, Gamiño, Ana, Galindo‐Fraga, Arturo, Valdéz Vázquez, Rafael, Magaña Aquino, Martín, Ramirez‐Venegas, Alejandra, Valdés Salgado, Raydel, Andrade‐Platas, Diana, Estevez‐Jimenéz, Juliana, Ruiz‐Palacios, Guillermo M., Guerrero, Maria Lourdes, Beigel, John, Smolskis, Mary C., Hunsberger, Sally, Freimanis‐Hence, Laura, Llamosas‐Gallardo, Beatriz
Publicado 2018

Altered Vascular Endothelium-Dependent Responsiveness in Frail Elderly Patients Recovering from COVID-19 Pneumonia: Preliminary Evidence

por Paneroni, Mara, Pasini, Evasio, Vitacca, Michele, Scalvini, Simonetta, Comini, Laura, Pedrinolla, Anna, Venturelli, Massimo
Publicado 2021

Generation Y and surgical residency – Passing the baton or the end of the world as we know it? Results from a survey among medical students in Germany

por Kleinert, Robert, Fuchs, Claudia, Romotzky, Vanessa, Knepper, Laura, Wasilewski, Marie-Luise, Schröder, Wolfgang, Bruns, Christiane, Woopen, Christiane, Leers, Jessica
Publicado 2017

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

por Westenfield, Kristen, Sarafoglou, Kyriakie, Speltz, Laura C., Pierpont, Elizabeth I., Steyermark, Joan, Nascene, David, Bower, Matthew, Pierpont, Mary Ella
Publicado 2018

Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II

por Richter, John E., Zimmermann, Michael T., Blackburn, Patrick R., Mohammad, Ahmed N., Klee, Eric W., Pollard, Laura M., Macmurdo, Colleen F., Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2018

Functional Rescue of a Nephrogenic Diabetes Insipidus Causing Mutation in the V2 Vasopressin Receptor by Specific Antagonist and Agonist Pharmacochaperones

por Szalai, Laura, Sziráki, András, Erdélyi, László Sándor, Kovács, Kinga Bernadett, Tóth, Miklós, Tóth, András Dávid, Turu, Gábor, Bonnet, Dominique, Mouillac, Bernard, Hunyady, László, Balla, András
Publicado 2022