Search Results - "Simone, Maria Luisa"

Evaluation of MALDI-TOF Mass Spectrometry in Diagnostic and Environmental Surveillance of Legionella Species: A Comparison With Culture and Mip -Gene Sequencing Technique by Pascale, Maria Rosaria, Mazzotta, Marta, Salaris, Silvano, Girolamini, Luna, Grottola, Antonella, Simone, Maria Luisa, Cordovana, Miriam, Bisognin, Francesco, Dal Monte, Paola, Bucci Sabattini, Maria Antonietta, Viggiani, Mariagabriella, Cristino, Sandra

“…spp. are widespread bacteria in aquatic environments with a growing impact on human health. Between the 61 species, is the most prevalent in human diseases; on…”
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Fibroblasts’ secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification by Lofaro, Francesco Demetrio, Costa, Sonia, Simone, Maria Luisa, Quaglino, Daniela, Boraldi, Federica

“…Pseudoxanthoma elasticum (PXE) is a rare disease characterized by ectopic calcification, however, despite the widely spread effect of pro/anti-calcifying…”
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In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia by Rabacchi, Claudio, Simone, Maria Luisa, Pisciotta, Livia, Di Leo, Enza, Bocchi, Davide, Pietrangelo, Antonello, D'Addato, Sergio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia

“…Familial hypobetalipoproteinemia type 1 (FHBL-1) is a codominant disorder characterized by greatly reduced plasma levels of total cholesterol, low-density…”
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Constitutive and LPS-regulated expression of interleukin-18 receptor beta variants in the mouse brain by Alboni, Silvia, Montanari, Claudia, Benatti, Cristina, Blom, Johanna M.C, Simone, Maria Luisa, Brunello, Nicoletta, Caggia, Federica, Guidotti, Gianluigi, Marcondes, Maria Cecilia Garibaldi, Sanchez-Alavez, Manuel, Conti, Bruno, Tascedda, Fabio

“…Abstract Interleukin (IL)-18 is a pro-inflammatory cytokine that is proposed to be involved in physiological as well as pathological conditions in the adult…”
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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing by Camparini, Monica, Rinaldi, Chiara, Ciardella, Antonio, Balducci, Nicole, Tranchina, Antonia, Cavallini, Gian Maria, Pietrangelo, Antonello, Marigo, Valeria, Tagliafico, Enrico, Manfredini, Rossella, Simone, Maria Luisa, Artusi, Valentina, Percesepe, Antonio, Artuso, Lucia, Tenedini, Elena, Chiesi, Laura, Bernardis, Isabella, Graziano, Claudio

“…To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects…”
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Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects by Cefalù, Angelo B, Spina, Rossella, Noto, Davide, Rabacchi, Claudio, Giammanco, Antonina, Simone, Maria Luisa, Brucato, Federica, Scrimali, Chiara, Gueli-Alletti, Maria Grazia, Barbagallo, Carlo M, Tarugi, Patrizia, Averna, Maurizio R

“…Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP,…”
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Novel mutations of SAR1B gene in four children with chylomicron retention disease by Simone, Maria Luisa, Rabacchi, Claudio, Kuloglu, Zarife, Kansu, Aydan, Ensari, Arzu, Demir, Arzu Meltem, Hizal, Gulin, Di Leo, Enza, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia

“…Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may…”
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Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects by Cefalù, Angelo B., Spina, Rossella, Noto, Davide, Rabacchi, Claudio, Giammanco, Antonina, Simone, Maria Luisa, Brucato, Federica, Scrimali, Chiara, Gueli-Alletti, Maria Grazia, Barbagallo, Carlo M., Tarugi, Patrizia, Averna, Maurizio R.

“…•Primary hypobetalipoproteinemia (HBL) can be either monogenic or polygenic.•We compared two polygenic risk scores (PRS1-PRS2) in primary HBL.•Among 170…”
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A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region by Marino, Marco, Rabacchi, Claudio, Simone, Maria Luisa, Medici, Veronica, Cortesi, Laura, Calandra, Sebastiano

“…Point mutations in the highly penetrant cancer susceptibility gene BRCA1 are responsible for the majority of hereditary breast and/or ovarian cancer. We…”
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Identification of an Alternative Transcript of ABCA1 Gene in Different Human Cell Types by Bellincampi, Lorenza, Simone, Maria Luisa, Motti, Corradino, Cortese, Claudio, Bernardini, Sergio, Bertolini, Stefano, Calandra, Sebastiano

“…We have observed two ABCA1 gene transcripts in human skin fibroblasts. The RT-PCR amplification of the exon 3–exon 8 region generated a normal fragment (740…”
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