Search Results - "Puddu, Alessandro"

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis by Pangrazio, Alessandra, Puddu, Alessandro, Oppo, Manuela, Valentini, Maria, Zammataro, Luca, Vellodi, Ashok, Gener, Blanca, Llano-Rivas, Isabel, Raza, Jamal, Atta, Irum, Vezzoni, Paolo, Superti-Furga, Andrea, Villa, Anna, Sobacchi, Cristina

“…Abstract Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic…”
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The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity by Marongiu, Mara, Deiana, Manila, Meloni, Alessandra, Marcia, Loredana, Puddu, Alessandro, Cao, Antonio, Schlessinger, David, Crisponi, Laura

“…The FOXL2 forkhead transcription factor is expressed in ovarian granulosa cells, and mutated FOXL2 causes the blepharophimosis, ptosis and epicanthus inversus…”
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Outcomes in Pulmonary Hypertension in Relation to Insurance Status: National Hospital Discharge Survey, 2000-2010 by Banerjee, Srikanta, Puddu, Alessandro

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FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice by Marongiu, Mara, Marcia, Loredana, Pelosi, Emanuele, Lovicu, Mario, Deiana, Manila, Zhang, Yonqing, Puddu, Alessandro, Loi, Angela, Uda, Manuela, Forabosco, Antonino, Schlessinger, David, Crisponi, Laura

“…Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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Retinal Pigment Epithelial Cells Express a Functional Receptor for Glucagon-Like Peptide-1 (GLP-1) by Puddu, Alessandra, Sanguineti, Roberta, Montecucco, Fabrizio, Viviani, Giorgio Luciano

“…Glucagon-like peptide-1 (GLP-1) is a gut-derived incretin hormone that has been shown to improve glucose homeostasis in type 2 diabetes. The biological effects…”
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Withania somnifera Prevents Morphine Withdrawal-Induced Decrease in Spine Density in Nucleus Accumbens Shell of Rats: A Confocal Laser Scanning Microscopy Study by Kasture, Sanjay, Vinci, Stefania, Ibba, Federico, Puddu, Alessandro, Marongiu, Mara, Murali, Balasubramanian, Pisanu, Augusta, Lecca, Daniele, Zernig, Gerald, Acquas, Elio

“…Opiate withdrawal is associated with morphological changes of dopamine neurons in the ventral tegmental area and with reduction of spine density of…”
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It might be balanced, but is it actually good? An Empirical Evaluation of Game Level Balancing by Rupp, Florian, Puddu, Alessandro, Becker-Asano, Christian, Eckert, Kai

“…Achieving optimal balance in games is essential to their success, yet reliant on extensive manual work and playtesting. To facilitate this process, the…”
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It might be balanced, but is it actually good? An Empirical Evaluation of Game Level Balancing by Rupp, Florian, Puddu, Alessandro, Becker-Asano, Christian, Eckert, Kai

“…Achieving optimal balance in games is essential to their success, yet reliant on extensive manual work and playtesting. To facilitate this process, the…”
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Microbial contamination of surfaces in the departments of Medicine and Surgery: single center prevalence study in Sassari (Italy) by Dore, Simone, Sotgiu, Giovanni, Piana, Andrea, Are, Bianca Maria, Arru, Benedetto, Puddu, Alessandro, Piredda, Claudia, Dettori, Marco, Palmieri, Alessandra, Porcu, Alberto, Mura, Ida, Dore, Maria Pina

“…Healthcare-associated infections (HAIs) represent a clinical and public health problem worldwide. Microbial transmission can frequently occurs between patients…”
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