Search Results - "Solari, Andrea"

Literature review on sexuality in the elderly: What is being taught and with what technologies by Acevedo Ayala, Jhonny, Solari Del Sol, Andrea, Arroyo Concha, Magdalena, Tirreau Román, Dominique

“…Chile is facing an increasingly aging population and, with it, changes in its demographic, epidemiological, and healthcare structure. As a result, the sexual…”
Get full text

Regulation of PKA activity by an autophosphorylation mechanism in Saccharomyces cerevisiae by Solari, Clara Andrea, Tudisca, Vanesa, Pugliessi, Marcelo, Nadra, Alejandro Daniel, Moreno, Silvia, Portela, Paula

“…PKA (cAMP-dependent protein kinase) activity, as well as that of other AGC members, is regulated by multiple phosphorylations of its catalytic subunits. In…”
Get more information

Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson by Miller, Stefania A., Solari, Andrea P., Alberto, Guillermo, Benitez Medina, Ana C., García Ayré, Brenda M., Parisini, Daniel, Claps, Aldana, Taboas, Melisa

Get full text

Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency by Espeche, Lucía Daniela, Chiauzzi, Violeta, Ferder, Ianina, Arrar, Mehrnoosh, Solari, Andrea Paula, Bruque, Carlos David, Delea, Marisol, Belli, Susana, Fernández, Cecilia Soledad, Buzzalino, Noemí Delia, Charreau, Eduardo Hernán, Dain, Liliana Beatriz

“…The premutation state of (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic…”
Get full text

16p11.2 Microdeletion: first report in Argentina by Tardivo, Agostina, Masotto, Bárbara, Espeche, Lucía, Solari, Andrea P, Nevado, Julián, Rozental, Sandra

“…The 16p11.2 recurrent microdeletion phenotype is characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. This…”
Get full text

Global kinome profiling reveals DYRK1A as critical activator of the human mitochondrial import machinery by Walter, Corvin, Marada, Adinarayana, Suhm, Tamara, Ernsberger, Ralf, Muders, Vera, Kücükköse, Cansu, Sánchez-Martín, Pablo, Hu, Zehan, Aich, Abhishek, Loroch, Stefan, Solari, Fiorella Andrea, Poveda-Huertes, Daniel, Schwierzok, Alexandra, Pommerening, Henrike, Matic, Stanka, Brix, Jan, Sickmann, Albert, Kraft, Claudine, Dengjel, Jörn, Dennerlein, Sven, Brummer, Tilman, Vögtle, F.-Nora, Meisinger, Chris

“…The translocase of the outer mitochondrial membrane TOM constitutes the organellar entry gate for nearly all precursor proteins synthesized on cytosolic…”
Get full text

Cyclin Y is expressed in Platelets and Modulates Integrin Outside-in Signaling by Kyselova, Anastasia, Siragusa, Mauro, Anthes, Julian, Solari, Fiorella Andrea, Loroch, Stefan, Zahedi, René P, Walter, Ulrich, Fleming, Ingrid, Randriamboavonjy, Voahanginirina

“…Diabetes is associated with platelet hyper-reactivity and enhanced risk of thrombosis development. Here we compared protein expression in platelets from…”
Get full text

Microdeleción 16p11.2: primeros casos reportados en Argentina by Tardivo, Agostina, Masotto, Bárbara, Espeche, Lucía, Solari, Andrea P, Nevado, Julián, Rozental, Sandra

“…La microdeleción 16p11.2 se relaciona, habitualmente, con discapacidad intelectual y trastornos del espectro autista. El rango fenotípico incluye un espectro…”
Get full text

Identification of a pharmacological inhibitor of Epac1 that protects the heart against acute and chronic models of cardiac stress by Laudette, Marion, Coluccia, Antonio, Sainte-Marie, Yannis, Solari, Andrea, Fazal, Loubina, Sicard, Pierre, Silvestri, Romano, Mialet-Perez, Jeanne, Pons, Sandrine, Ghaleh, Bijan, Blondeau, Jean-Paul, Lezoualc’h, Frank

“…Abstract Aims Recent studies reported that cAMP-binding protein Epac1-deficient mice were protected against various forms of cardiac stress, suggesting that…”
Get full text

TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings by Bevilacqua, Florencia, Alberto, Guillermo, Duarte, Santiago Pablo, Serra, Marina, Basterra, Julieta, Espeche, Lucía, Cerretini, Roxana Inés, Solari, Andrea Paula

Get full text

Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families by Ormazábal, Mariel, Solari, Andrea, Espeche, Lucía, Castro, Tania, Buzzalino, Noemí

“…The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the…”
Get full text

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations by Bruque, Carlos D., Delea, Marisol, Fernández, Cecilia S., Orza, Juan V., Taboas, Melisa, Buzzalino, Noemí, Espeche, Lucía D., Solari, Andrea, Luccerini, Verónica, Alba, Liliana, Nadra, Alejandro D., Dain, Liliana

“…Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90–95% of CAH cases. In this work we performed an extensive survey of mutations…”
Get full text

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system by Espeche, Lucía Daniela, Solari, Andrea Paula, Mori, María Ángeles, Arenas, Rubén Martín, Palomares, María, Pérez, Myriam, Martínez, Cinthia, Lotersztein, Vanesa, Segovia, Mabel, Armando, Romina, Dain, Liliana Beatriz, Nevado, Julián, Lapunzina, Pablo, Rozental, Sandra

“…Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination…”
Get full text

Simultaneous Metabolite, Protein, Lipid Extraction (SIMPLEX): A Combinatorial Multimolecular Omics Approach for Systems Biology by Coman, Cristina, Solari, Fiorella Andrea, Hentschel, Andreas, Sickmann, Albert, Zahedi, René Peiman, Ahrends, Robert

“…Interconnected molecular networks are at the heart of signaling pathways that mediate adaptive plasticity of eukaryotic cells. To gain deeper insights into the…”
Get full text

Fragilidad del X y otras entidades asociadas al gen FMR1: estudio de 28 familias afectadas by Ormazábal, Mariel, Solari, Andrea, Espeche, Lucía, Castro, Tania, Buzzalino, Noemí

“…El síndrome de fragilidad del cromosoma X es la causa de discapacidad intelectual heredable más frecuente. Asociado a trastornos del espectro autista en un…”
Get full text

Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families by Ormazábal, Mariel, Solari, Andrea, Espeche, Lucía, Castro, Tania, Buzzalino, Noemí

Get full text

Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases by Andersen, María Soledad, Menazzi, Sebastián, Brun, Paloma, Cocah, Cecilia, Merla, Giuseppe, Solari, Andrea

“…Kabuki syndrome is a genetic entity with multiple anomalies associated with intellectual disability. The clinical diagnosis is based on typical facial…”
Get full text

Malaria infection diagnosis: comparison between traditional methods and a new freeze-dried PCR multiplex test by Alessia Moiana, Maurizio Gramegna, Fiorella Andrea Solari, Simonetta Gatti

“…Malaria is the most diffused parasitic disease that affects humans.A rapid and accurate diagnosis is a prerequisite for an effective treatment. The development…”
Get full text

Phenotypic variability in 47, XXX patients: Clinical report of four new cases by Goldschmidt, Ernesto, Márquez, Marisa, Solari, Andrea, Ziembar, María I, Laudicina, Alejandro

“…The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are…”
Get full text

Diagnóstico clínico en el síndrome de Kabuki: fenotipo y anomalías asociadas en dos casos nuevos by Andersen, María Soledad, Menazzi, Sebastián, Brun, Paloma, Cocah, Cecilia, Merla, Giuseppe, Solari, Andrea

“…El síndrome de Kabuki es una entidad génica caracterizada por discapacidad intelectual asociada con múltiples anomalías sistémicas. El diagnóstico es…”
Get full text