Search Results - "d’Adamo, Adamo P"

Cystinuria type I: Identification of eight new mutations in SLC3A1 by Bisceglia, Luigi, Purroy, Jesús, Jiménez-Vidal, Maite, D'Adamo, Adamo P., Rousaud, Ferran, Beccia, Ercole, Penza, Rosa, Rizzoni, Gianfranco, Gallucci, Michele, Palacín, Manuel, Gasparini, Paolo, Nunes, Virginia, Zelante, Leopoldo

“…Cystinuria type I: Identification of eight new mutations inSLC3A1. Cystinuria is a heritable disorder of amino acid transport characterized by the defective…”
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Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways by Crudele, Francesca, Bianchi, Nicoletta, Terrazzan, Anna, Ancona, Pietro, Frassoldati, Antonio, Gasparini, Paolo, D'Adamo, Adamo P, Papaioannou, Dimitrios, Garzon, Ramiro, Wójcicka, Anna, Gaj, Paweł, Jażdżewski, Krystian, Palatini, Jeffrey, Volinia, Stefano

“…circRNAs constitute a novel class of RNA, generally considered as non-coding RNAs; nonetheless, their coding potential has been under scrutiny. In this work,…”
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Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders by Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d'Adamo, Adamo P, Musante, Luciana

“…encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development,…”
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The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge by Musante, Luciana, Costa, Paola, Zanus, Caterina, Faletra, Flavio, Murru, Flora M, Bianco, Anna M, La Bianca, Martina, Ragusa, Giulia, Athanasakis, Emmanouil, d'Adamo, Adamo P, Carrozzi, Marco, Gasparini, Paolo

“…Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs)…”
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What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study by Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, d'Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, d'Adamo, Adamo P

“…Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be…”
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The oncogene ERG: a key factor in prostate cancer by Adamo, P, Ladomery, M R

“…ETS-related gene ( ERG ) is a member of the E-26 transformation-specific (ETS) family of transcription factors with roles in development that include…”
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Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene by Faletra, Flavio, D'Adamo, Adamo P., Bruno, Irene, Athanasakis, Emmanouil, Biskup, Saskia, Esposito, Laura, Gasparini, Paolo

“…Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory…”
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Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability by Gandin, Ilaria, Faletra, Flavio, Faletra, Francesca, Carella, Massimo, Pecile, Vanna, Ferrero, Giovanni B., Biamino, Elisa, Palumbo, Pietro, Palumbo, Orazio, Bosco, Paolo, Romano, Corrado, Belcaro, Chiara, Vozzi, Diego, d’Adamo, Adamo P.

“…The harmful effects of inbreeding are well known by geneticists, and several studies have already reported cases of intellectual disability caused by recessive…”
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Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection by Athanasakis, Emmanouil, Licastro, Danilo, Faletra, Flavio, Fabretto, Antonella, Dipresa, Savina, Vozzi, Diego, Morgan, Anna, d'Adamo, Adamo P., Pecile, Vanna, Biarnés, Xevi, Gasparini, Paolo

“…The identification of causes underlying intellectual disability (ID) is one of the most demanding challenges for clinical Geneticists and Researchers. Despite…”
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Moss bag biomonitoring: A methodological review by Ares, A., Aboal, J.R., Carballeira, A., Giordano, S., Adamo, P., Fernández, J.A.

“…Although the moss bag technique has been used for active biomonitoring for the past 40years, there is still no standardized protocol that enables application…”
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Reactive astrocytes and Wnt/β-catenin signaling link nigrostriatal injury to repair in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model of Parkinson's disease by L'Episcopo, F, Tirolo, C, Testa, N, Caniglia, S, Morale, M.C, Cossetti, C, D'Adamo, P, Zardini, E, Andreoni, L, Ihekwaba, A.E.C, Serra, P.A, Franciotta, D, Martino, G, Pluchino, S, Marchetti, B

“…Abstract Emerging evidence points to reactive glia as a pivotal factor in Parkinson's disease (PD) and 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine…”
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Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways by Girotto, Giorgia, Pirastu, Nicola, Sorice, Rossella, Biino, Ginevra, Campbell, Harry, d'Adamo, Adamo P, Hastie, Nicholas D, Nutile, Teresa, Polasek, Ozren, Portas, Laura, Rudan, Igor, Ulivi, Sheila, Zemunik, Tatijana, Wright, Alan F, Ciullo, Marina, Hayward, Caroline, Pirastu, Mario, Gasparini, Paolo

“…Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that…”
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Testing mosses exposed in bags as biointerceptors of airborne radiocaesium after the Fukushima Dai-ichi Nuclear Power Station accident by Di Palma, A., Adamo, P., Dohi, T., Fujiwara, K., Hagiwara, H., Kitamura, A., Sakoda, A., Sato, K., Iijima, K.

“…Eight years after the Fukushima nuclear accident, mosses exposed in bags were used to investigate their ability to accumulate radiocaesium and therefore to act…”
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Best options for the exposure of traditional and innovative moss bags: A systematic evaluation in three European countries by Capozzi, F., Giordano, S., Aboal, J.R., Adamo, P., Bargagli, R., Boquete, T., Di Palma, A., Real, C., Reski, R., Spagnuolo, V., Steinbauer, K., Tretiach, M., Varela, Z., Zechmeister, H., Fernández, J.A.

“…To develop an internationally standardized protocol for the moss bag technique application, the research team participating in the FP7 European project…”
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Synaptic dysfunction, memory deficits and hippocampal atrophy due to ablation of mitochondrial fission in adult forebrain neurons by Oettinghaus, B, Schulz, J M, Restelli, L M, Licci, M, Savoia, C, Schmidt, A, Schmitt, K, Grimm, A, Morè, L, Hench, J, Tolnay, M, Eckert, A, D'Adamo, P, Franken, P, Ishihara, N, Mihara, K, Bischofberger, J, Scorrano, L, Frank, S

“…Well-balanced mitochondrial fission and fusion processes are essential for nervous system development. Loss of function of the main mitochondrial fission…”
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Accumulation of airborne trace elements in mosses, lichens and synthetic materials exposed at urban monitoring stations: Towards a harmonisation of the moss-bag technique by Giordano, S., Adamo, P., Spagnuolo, V., Tretiach, M., Bargagli, R.

“…► Devitalisation treatments of moss do not decrease element uptake ability. ► Uptake ability in several devitalised moss materials was not significantly…”
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Biomonitoring of atmospheric pollution by moss bags: Discriminating urban-rural structure in a fragmented landscape by Capozzi, F., Giordano, S., Di Palma, A., Spagnuolo, V., De Nicola, F., Adamo, P.

“…In this paper we investigated the possibility to use moss bags to detect pollution inputs - metals, metalloids and polycyclic aromatic hydrocarbons (PAHs) - in…”
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Spatial distribution of heavy metals in urban soils of Naples city (Italy) by Imperato, M, Adamo, P, Naimo, D, Arienzo, M, Stanzione, D, Violante, P

“…Cu, Cr, Pb and Zn in the surface and sub-surface soils of the Naples city urban area have been studied and compared with historical data. Concentrations of…”
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Distribution and partition of heavy metals in surface and sub-surface sediments of Naples city port by Adamo, P., Arienzo, M., Imperato, M., Naimo, D., Nardi, G., Stanzione, D.

“…The aim of the study was to delineate the extent of heavy metal pollution in the marine sediments within the port of Naples. Total metal contents from twenty…”
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Air pollution monitoring using emission inventories combined with the moss bag approach by Iodice, P., Adamo, P., Capozzi, F., Di Palma, A., Senatore, A., Spagnuolo, V., Giordano, S.

“…Inventory of emission sources and biomonitoring with moss transplants are two different methods to evaluate air pollution. In this study, for the first time,…”
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