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1. SIRT5 rs12216101 T>G variant is associated with oxidative stress and mitochondrial dysfunction in patients with non-alcoholic fatty liver disease

Author

Salomone, F., primary, Pipitone, R.M., additional, Longo, M., additional, Malvestiti, F., additional, Casirati, E., additional, Distefano, A., additional, Amorini, M., additional, Volti, G. Li, additional, Ciociola, E., additional, Lazzarino, G., additional, Craxì, A., additional, Fracanzani, A.L., additional, Dongiovanni, P., additional, Valenti, L., additional, Petta, S., additional, and Grimaudo, S., additional

Published
2023
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3. P731: INTERPLAY BETWEEN INFLAMMATION AND EPIGENETICS IN TUMOR REPROGRAMMING OF MESENCHYMAL STROMAL CELLS (MSCS) IN MYELODYSPLASTIC SYNDROMES (MDS)

Author

Giallongo, C., primary, Dulcamare, I., additional, Tibullo, D., additional, Pieragostino, D., additional, Cufaro, M. C., additional, Amorini, M. A., additional, Lazzarino, G., additional, Romano, A., additional, Scandura, G., additional, Zuppelli, T., additional, Di Rosa, M., additional, Duminuco, A., additional, Broggi, G., additional, Caltabiano, R., additional, Floresti, R., additional, Motterlini, R., additional, Di Raimondo, F., additional, and Palumbo, G. A., additional

Published
2022
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5. Influenza dell’isospin sui modi di decadimento dei sistemi formati nelle reazioni 78,86Kr+40,48Ca a 10 AMeV

Author

Gnoffo, B., La Commara, M., Pirrone, S., Politi, G., Wieleczko, J. P., Ademard, G., Filippo, De, Vigilante, E., Amorini, M., Auditore, Lucrezia, Beck, C., Berceanu, I., Bonnet, E., Borderie, B., Cardella, G., Chbihi, A., Colonna, D’Onofrio, A., Frankland, M., J. D., Geraci, Henry, E., Guidara, La, Lanzalone, E., Lautesse, G., Lebhertz, P., Neindre, Le, Lombardo, N., Mazurek, I., Pagano, K., Papa, A., Piasecki, M., Porto, E., Quinlann, F., Rivet, M., M. F., Rizzo, Rosato, F., Russotto, E., Schroeder, P., W. U., Spadaccini, Trifiro', Antonio, Toke, J., Trimarchi, Marina, and Verde, G.

Published
2014

6. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Author

Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, OMÜ, University of Zurich, Valente, Enza Maria, Fluss, Joel Victor, Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Johnson, C, Atti? Bitach, T, Gleeson, Jg, Valente, Em, International JSRD Study, Group, and DEL GIUDICE, Ennio

Subjects
Male, Ciliata -- Anatomy, Proband, 10039 Institute of Medical Genetics, Meckel syndrome, RPGRIP1L, Syndromes, INPP5E, MODIFIER, Phosphoric Monoester Hydrolases/genetics, Ciliopathies, Polycystic Kidney Diseases/diagnosis/genetics, CILIUM, 0302 clinical medicine, Gene Frequency, Cerebellum, Prenatal Diagnosis, RETINAL DEGENERATION, Prevalence, MECKEL, ciliopathies, Joubert syndrome and related disorders, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Joubert syndrome, Genetics, Polycystic Kidney Diseases, 0303 health sciences, ddc:618, Cerebellar Diseases/diagnosis/genetics, Kidney Diseases, Cystic, Pedigree, 3. Good health, Phenotype, Child, Preschool, Medical genetics, Female, Retinitis Pigmentosa, FORM, Ciliary Motility Disorders, Heterozygote, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Encephalocele/diagnosis/genetics, AHI1, 610 Medicine & health, Biology, Retina, Article, Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome, NO, Ciliary Motility Disorders/diagnosis/genetics, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, REVEALS, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Kidney Diseases, Cystic/diagnosis/genetics, abnormalities, multiple, adolescent, amino acid sequence, cerebellar diseases, cerebellum, child, preschool, ciliary motility disorders, encephalocele, eye abnormalities, female, heterozygote, humans, infant, kidney diseases, cystic, male, molecular sequence data, pedigree, phosphoric monoester hydrolases, polycystic kidney diseases, prenatal diagnosis, prevalence, retina, gene frequency, mutation, phenotype, 030304 developmental biology, Eye Abnormalities/diagnosis/genetics, COACH SYNDROME, Retina/abnormalities, Genetic heterogeneity, Respiration disorders -- Therapy, Infant, medicine.disease, Phosphoric Monoester Hydrolases, INPP5E mutation, 10036 Medical Clinic, Mutation, 030217 neurology & neurosurgery
Abstract

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign’. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS foetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus., peer-reviewed

Published
2013

7. Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Author

Briguglio, Marilena, Pinelli, L., Giordano, L., Ferraris, A., Germano', Eva, Micheletti, S., Severino, M. S., Bernardini, L., Loddo, S., Tortorella, Gaetano, Ormitti, F., Gasparotti, R., Borgatti, R., Romaniello, R., Arrigoni, F., Accorsi, P., Galil, J, Biancheri, R., Mirabelli, M., D’Amico, A., Del Giudice, E., Amorini, M., Briuglia, Silvana, Gallizzi, Romina, Gagliano, Antonella, La Torre, A., SALPIETRO DAMIANO, Carmelo, Chiapparini, L., D’Arrigo, S., Pantaleoni, C., Fiocchi, I., Triulzi, F., Pichiecchio, A., Signorini, S., Battini, R., Casarano, M., Di Sabato, M. L., Leuzzi, V., Bertini, E., Colafati, S., Zanni, G., Fazzi, E., Mercuri, E., Vitiello, G., Romani, M., Micalizzi, A., Simonati, A., Rossi, A., Valente, E. M., Briguglio, M, Pinelli, L, Giordano, L, Ferraris, A, Germanò, E, Micheletti, S, Severino, M, Bernardini, L, Loddo, S, Tortorella, G, Ormitti, F, Gasparotti, R, Rossi, A, Valente, Em, CBCD Study, Group, and DEL GIUDICE, Ennio

Subjects
Decussation, Male, Pediatrics, medicine.medical_specialty, Adolescent, Diffusion Tensor Tractography, lcsh:Medicine, Case Report, Nervous System Malformations, Adolescent age, spectrum, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, children, Swallowing, pontine tegmental cap dysplasia, magnetic resonance imaging, medicine, Pedunculopontine Tegmental Nucleus, Humans, Genetics(clinical), PTCD, Pharmacology (medical), Neuropsychological assessment, disorders, Genetics (clinical), Cognitive deficit, Medicine(all), Pontine Tegmental Cap Dysplasia, brainstem malformation, cerebellar malformation, medicine.diagnostic_test, business.industry, lcsh:R, Cognition, General Medicine, Diffusion Tensor Imaging, Malformations, hindbrain, Pontine tegmental cap dysplasia, Female, Brainstem, medicine.symptom, business, 030217 neurology & neurosurgery, Tractography
Abstract

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration. These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.

Published
2011

11. TLR4 and NOD2/CARD15 genetic polymorphisms and their possible role in gastric carcinogenesis

Author

Rigoli, L., Di Bella, C., Fedele, F., Procopio, V., Amorini, M., Lo Giudice, G., Romeo, P., Pugliatti, F., Finocchiaro, G., Roberta Lucianò, and Caruso, R. A.

Subjects
Adult, Male, Helicobacter pylori, Nod2 Signaling Adaptor Protein, Prognosis, Polymorphism, Single Nucleotide, Helicobacter Infections, Toll-Like Receptor 4, Gene Frequency, Stomach Neoplasms, Case-Control Studies, Gastritis, Mutation, Humans, Female, Genetic Predisposition to Disease, geni TLR4 e NOD2/CARD15.Carcinogenesi gastrica
Abstract

The aim of this study was to evaluate the role of TLR4 and NOD2/CARD15 genes in gastric carcinogenesis.We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and L1007finsC) SNPs in 87 asymptomatic serologically H. pylori-positive individuals (Group I), in 63 patients with antrum-predominant gastritis (Group II) and in 60 patients with corpus-predominant gastritis or pangastritis (Group III).There was significant difference in allelic frequencies of TLR4 D299G SNP in Group II (p=0.02; OR 2.97) as well as in Group III (p=0.001; OR 4.80). Significant difference of T399I SNP allele frequency was only found in Group III (p=0.009; OR 3.73). The allele frequencies of NOD2/CARD15 G908R and of L1007insC SNP were higher in Group III (p=0.003, OR 5.18; p=0.03; OR 3.66, respectively).TLR4 and NOD2/CARD15 genes are associated with high risk Group III patients and, therefore, they appear to play a role in gastric carcinogenesis.

Published
2010

13. Febbri ricorrenti ed eredità oligogenica

Author

Cuppari, C., Gallizzi, Romina, Amorini, M., Lo Giudice, G., Romeo, Petronilla, Comito, D., Vicchio, P., Famiani, A., and SALPIETRO DAMIANO, Carmelo

Published
2009

21. Condrodisplasia Metafisaria di Schmid: descrizione di un caso

Author

Calabrò, G. E., Briuglia, Silvana, Cammarere, B., Vicchio, P., Ferraù, V., Cutrupi, M. C., Aversa, S., Moscheo, C., Rossi, P., Procopio, V., Amorini, M., LO GIUDICE, G., Magnoli, D., Gallizzi, R., and SALPIETRO DAMIANO, Carmelo

Published
2008

32. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Author

Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Mckanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, and Paediatric Genetics

Subjects
Male, Pathology, DNA Mutational Analysis, Cell Cycle Proteins, medicine.disease_cause, Ciliopathies, Ocular Motility Disorders, Cohort Studies, Joubert syndrome–related disorders, CEP290, Genetics(clinical), Child, Genetics (clinical), Genetics, Mutation, Brain, Syndrome, Phenotype, Magnetic Resonance Imaging, Kidney Diseases, Molar, Neoplasm Proteins, Child, Preschool, Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Female, Humans, Abnormalities, Multiple, medicine.medical_specialty, Biology, Article, Joubert syndrome, Central nervous system disease, medicine, Antigens, Preschool, Genetic heterogeneity, medicine.disease, Cytoskeletal Proteins, Situs inversus, Neoplasm
Abstract

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Löken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients representing the spectrum of other JSRD subtypes, with mutations identified in only two patients. The data suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies.

Published
2007

34. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Author

Brancati, F, Barrano, G, Silhavy, Jl, Marsh, Se, Travaglini, L, Bielas, Sl, Amorini, M, Zablocka, D, Kayserili, H, Al Gazali, L, Bertini, E, Boltshauser, E, D'Hooghe, M, Fazzi, E, Fenerci, Ey, Hennekam, Rc, Kiss, A, Lees, Mm, Marco, E, Phadke, Sr, Rigoli, L, Romano, S, Salpietro, Cd, Sherr, Eh, Signorini, S, Stromme, P, Stuart, B, Sztriha, L, Viskochil, Dh, Yuksel, A, Dallapiccola, [International JSRD Study Group], Valente, Em, Gleeson, Jg, Smith, P, Leventer, R, Janecke, A, Van Coster, R, Dias, K, Moco, C, Moreira, A, Chong, Ak, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Martu, I, Quijano Roy, S, De Lonlay, P, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdotir, J, Ludvigsson, P, Magee, A, Lev, D, Michelson, M, Ben Zev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Boccone, L, Ruggieri, Martino, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Cardidi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Tortorella, G, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Lavercla, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Aqeel, A, De Jong MM, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Comu, S, Akcakus, M, Nicholl, D, Woods, Cg, Bennet, C, Hurst, J, Walsh, Ca, Bernes, S, Sanchez, H, Clark, Ae, Donahue, C, Hahn, J, Sanger, Td, Gallager, Te, Dobyns, Wb, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, and Swoboda, Kj

Published
2007

38. Dynamical multi-break processes in the 124Sn+64Ni system at 35 MeV/nucleon and CoMD-II calculations

Author

Amorini, M. Papa F., Anzalone, A., Auditore, L., Baran, V., Berceanu, I., Blicharska, J., Brzychczyk, J., Borderie, B., Bougault, R., Bruno, M., Cardella, G., Cavallaro, S., Chatterjee, M. B., Chbihi, A., Colonna, M., D Agostino, M., Dayras, R., Filippo, E., Di Toro, M., Frankland, J., Galichet, E., Gawlikowicz, W., Elena Irene Geraci, Giustolisi, F., Grzeszczuk, A., Guazzoni, P., Guinet, D., Iacono Manno, M., Kowalski, S., La Guidara, E., Lanzalone, G., Lanzano, G., Maiolino, C., Majka, Z., Le Neindre, N., Pagano, A., Petrovici, M., Piasecki, E., Pirrone, S., Planeta, R., Politi, Giuseppe, Pop, A., Porto, F., Rivet, M. F., Rosato, E., Francesca Rizzo, Russo, S., Russotto, P., Sassi, M., Schmidt, K., Siwek Wilczynska, K., Skwira, I., Sperduto, M. L., Sochocka, A., Swiderski, L., Trifiro, A., Trimarchi, M., Vannini, G., Verde, G., Vigilante, M., Wieleczko, J. P., Wilczynski, J., Zetta, L., and Zipper, W.

Published
2005

41. Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

Author

Rigoli, L., Romano, C., Caruso, R. A., Presti, M. A. L., Di Bella, C., Procopio, V., Giudice, G. L., Amorini, M., Costantino, G., Sergi, M. D., Cuppari, C., Calabro', Giovanna Elisa, Gallizzi, R., Salpietro, C. D., Fries, W., Calabro G. E. (ORCID:0000-0003-0259-3797), Rigoli, L., Romano, C., Caruso, R. A., Presti, M. A. L., Di Bella, C., Procopio, V., Giudice, G. L., Amorini, M., Costantino, G., Sergi, M. D., Cuppari, C., Calabro', Giovanna Elisa, Gallizzi, R., Salpietro, C. D., Fries, W., and Calabro G. E. (ORCID:0000-0003-0259-3797)

Abstract

Aim: To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. Methods: Allele and genotype frequencies of NOD2/CARD15 (R702W, G908R and L1007finsC) and TLR4 (D299G and T399I) SNPs were examined in 133 CD patients, in 45 UC patients, and in 103 healthy controls. A genotype-phenotype correlation was performed. Results: NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03). No significant difference was found between UC patients and control group (P > 0.05). In CD and UC patients, no significant association with G908R variant was found. L1007finsC SNP showed an association with CD (9.8%) compared with controls (2.9%, P = 0.002) and UC patients (2.3%, P = 0.01). Moreover, in CD patients, G908R and L1007finsC mutations were significantly associated with different phenotypes compared to CD wild-type patients. No association of IBD with the TLR4 SNPs was found in either cohort (allele frequencies: D299G-controls 3.9%, CD 3.7%, UC 3.4%, P > 0.05; T399I-controls 2.9%, CD 3.0%, UC 3.4%, P > 0.05). Conclusion: These findings confirm that, in our IBD patients selected from Southern Italy, the NOD2/CARD15, but not TLR4 SNPs, are associated with increased risk of CD. © 2008 The WJG Press. All rights reserved.

Published
2008

43. Interaction of cultured mammalian cells with [125I] diphtheria toxin

Author

Bonventre, P F, Saelinger, C B, Ivins, B, Woscinski, C, and Amorini, M

Abstract

The characteristics of cell adsorption and pinocytotic uptake of diphtheria toxin by several mammalian cell types were studied. Purified toxin iodinated by a solid-state lactoperoxidase method provided preparations of high specific activity and unaltered biological activity. Dephtheria toxin-sensitive HEp-2 cells and guinea pig macrophage cultures were compared with resistant mouse L-929 cells. At 37 C the resistant cells in monolayer adsorbed and internalized [125I] toxin to a greater extent than did the HEp-2 cell cultures; no significant differences were observed at 5 C. Ammonium chloride protection levels did not alter uptake of toxin by either L-929 OR HEp-2 cells. Biological activity of the iodinated toxin, however, was negated provided the presence of ammonium chloride was maintained. The ammonium salt appears to maintain toxin in a state amenable to antitoxin neutralization. Guinea pig macrophages internalized iodinated toxin to a level 10 times greater than the established cell lines. In spite of the increased uptake of toxin by the endocytic cells, ammonium chloride prevented expression of toxicity. In an artificial system, toxin adsorbed to polystyrene latex spheres and internalized by guinea pig macrophages during phagocytosis did express biological activity. Ammonium chloride afforded some but not total protection against toxin present in the phagocytic vacuoles. The data suggest that two mechanisms of toxin uptake by susceptible cells may be operative. Toxin taken into the cell by a pinocytotic process probably is not ordinarily of physiological significance since it is usually degraded by lysosomal enzymes before it can reach cytoplasmic constituents on which it acts. When large quantities of toxin are pinocytized, toxicity may be expressed before enzymatic degradation is complete. A more specific uptake involving direct passage of the toxin through the plasma membrane may be the mechanism leading to cell death in the majority of instances.

Published
1975
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44. Database simplification for field prediction in urban environment

Author

Vittorio Degli-Esposti, Fuschini, F., Amorini, M., V. Degli Esposti, F. Fuschini, and M. Amorini

Subjects
ray tracing, urban environment, computation time
Abstract

The performance and the usability of deterministic field prediction tools for the urban environment is heavily limited by the high computing time, which depends exponentially on the size of the input urban database. A simple technique for urban database simplification, aimed at speeding up deterministic field prediction is presented in the paper. Such a technique, based on a sort of heuristic preprocessing of the city map, identifies the buildings which are 'likely' to have an impact on the multipath propagation mechanism taking place between the radio terminals, and discards the rest of the map. Using this pre-processing technique, the CPU time can be decreased by orders of magnitude in typical ray tracing prediction cases, while the accuracy of the results only marginally degrades, as shown in the results section of the paper.

45. Experimental model of asymmetric brain ischemia and reperfusion in the rat

Author

Siragusa P, BARBARA TAVAZZI, Lazzarino G, Di Pierro D, Belli A, Amorini M, Giuffrè R, and Vagnozzi R

Subjects
Male, Neurons, Intracranial Pressure, Reproducibility of Results, Blood Pressure, Ascorbic Acid, Sensitivity and Specificity, Brain Ischemia, Rats, Disease Models, Animal, Malondialdehyde, Reperfusion Injury, Animals, Carotid Stenosis, Lipid Peroxidation, Rats, Wistar, Chromatography, High Pressure Liquid
Abstract

In this experimental study is illustrated an original model of cerebral asymmetric ischemia and reperfusion in the rat, induced by unilaterally elevating ICP and clamping the corresponding common carotid artery, that allows a direct comparison of the two brain hemispheres, one normal and the other ischemic, of the same animal.The experimental procedure consisted in grafting two screws through the skull on the right side of the sagittal suture, one of them being connected to a Queckenstedt manometer for monitoring ICP variations. A nitroprusside solution (1 mg/ml administered through the femoral vein at a flow rate of 0.103 ml/min) was infused to achieve a significant drop of MABP. At this time point, animals were subjected to 5 min of ischemia and 10 min of reperfusion induced by clamping and declamping the right common carotid artery. During the whole period of ischemia and reperfusion ICP and MABP were constantly monitored. In order to provide an outlook on the metabolic alterations of brain tissue occurring during ischemia and reperfusion phenomena, several biochemical parameters of cellular energy metabolism and of oxygen radical-induced membrane damage were determined by a sensitive and reproducible HPLC method on perchloric acid tissue extracts.The validity of the present model was supported by the finding of significant intrahemispheric differences in the concentration of several compounds considered as biochemical markers of tissue injury, such as adenosine 5'-triphosphate catabolites and malondialdehyde, this last indicating the damaging action of oxygen free radicals on cell membrane phospholipids.

47. Reusable Cavitand-Based Electrospun Membranes for the Removal of Polycyclic Aromatic Hydrocarbons from Water

Author

Federica Bianchi, Mattia Amorini, Enrico Dalcanale, Alessandro Pedrini, Chiara Gualandi, Valentina Antonia Dini, Roberta Pinalli, Nicolò Riboni, Chiara Massera, Lucia Pesenti, Amorini M., Riboni N., Pesenti L., Dini V.A., Pedrini A., Massera C., Gualandi C., Bianchi F., Pinalli R., and Dalcanale E.

Subjects
Resorcinol, Environmental remediation, Biomaterials, Absorbance, chemistry.chemical_compound, Adsorption, Ethers, Cyclic, Polycyclic Aromatic Hydrocarbon, General Materials Science, Polycyclic Aromatic Hydrocarbons, electrospinning, cavitand, Polyacrylonitrile, Cavitand, Water, Resorcinols, General Chemistry, PAH, water treatment, Electrospinning, Membrane, chemistry, Chemical engineering, Water treatment, reusable membrane, Water Pollutants, Chemical, Biotechnology
Abstract

The removal of toxic and carcinogenic polycyclic aromatic hydrocarbons (PAHs) from water is one of the most intractable environmental problems nowadays, because of their resistance to remediation. This work introduces a highly efficient, regenerable membrane for the removal of PAHs from water, featuring excellent filter performance and pH-driven release, thanks to the integration of a cavitand receptor in electrospun polyacrylonitrile (PAN) fibers. The role of the cavitand receptor is to act as molecular gripper for the uptake/release of PAHs. To this purpose, the deep cavity cavitand BenzoQxCav is designed and synthetized and its molecular structure is elucidated via X-Ray diffraction. The removal efficiency of the new adsorbent material toward the 16 priority PAHs is demonstrated via GC-MS analyses at ng L-1 concentration. A removal efficiency in the 32%, to 99% range is obtained. The regeneration of the membrane is performed by exploiting the pH-driven conformational switching of the cavitand between the vase form, where the PAHs uptake takes place, to the kite one, where the PAHs release occurs. The absorbance and regeneration capability of the membrane are successfully tested in four uptake/release cycles and the morphological stability.

Published
2022

48. Microsatellite-based genotyping of Candida parapsilosis sensu stricto isolates reveals dominance and persistence of a particular epidemiological clone among neonatal intensive care unit patients

Author

Daniela Petronilla Romeo, Orazio Romeo, Carla Lo Passo, Demetrio Delfino, I Pernice, Maria Amorini, Antonio Cascio, Romeo, O., Delfino, D., Cascio, A., Passo, C., Amorini, M., Romeo, D., and Pernice, I.

Subjects
Microbiology (medical), medicine.medical_specialty, Candida parapsilosis, Neonatal intensive care unit, Genotype, Settore MED/17 - Malattie Infettive, Infectious Disease, Microbiology, Disease Outbreaks, Candida orthopsilosis, Genetic, Candida orthopsilosi, Intensive Care Units, Neonatal, Epidemiology, Genetics, medicine, Humans, Molecular Biology, Genotyping, Ecology, Evolution, Behavior and Systematics, Candida, Dominance (genetics), ITS-sequencing, Cross Infection, Disease Outbreak, biology, Candidiasis, Infant, Newborn, Outbreak, Candida metapsilosis, biology.organism_classification, Molecular epidemiology, Microsatellite genotyping, Ecology, Evolution, Behavior and Systematic, Candida metapsilosi, Infectious Diseases, Candidiasi, Candida parapsilosi, Microsatellite Repeat, Microsatellite, Microsatellite Repeats, Human, Multilocus Sequence Typing
Abstract

In this study, using multilocus microsatellite analysis, we report the genetic characterization of 27 Candida parapsilosis isolates recovered in two different periods of time (2007-2009 and 2011-2012) from infants hospitalized in the neonatal intensive care unit of a hospital in Messina, Italy. The results revealed the persistence and dominance of a particular infectious genotype among NICU patients and highlight the power of the used microsatellite markers in clarifying epidemiologic associations, detect micro-evolutionary variations and facilitating the recognition of outbreaks. © 2012 Elsevier B.V.

Published
2013
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49. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Author

S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi, IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, and Attie-Bitach, T

Subjects
Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female
Abstract

Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.

Published
2010
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50. Reusable Cavitand-Based Electrospun Membranes for the Removal of Polycyclic Aromatic Hydrocarbons from Water.

Author

Amorini M, Riboni N, Pesenti L, Dini VA, Pedrini A, Massera C, Gualandi C, Bianchi F, Pinalli R, and Dalcanale E

Subjects
Ethers, Cyclic, Resorcinols, Water, Polycyclic Aromatic Hydrocarbons analysis, Water Pollutants, Chemical
Abstract

The removal of toxic and carcinogenic polycyclic aromatic hydrocarbons (PAHs) from water is one of the most intractable environmental problems nowadays, because of their resistance to remediation. This work introduces a highly efficient, regenerable membrane for the removal of PAHs from water, featuring excellent filter performance and pH-driven release, thanks to the integration of a cavitand receptor in electrospun polyacrylonitrile (PAN) fibers. The role of the cavitand receptor is to act as molecular gripper for the uptake/release of PAHs. To this purpose, the deep cavity cavitand BenzoQxCav is designed and synthetized and its molecular structure is elucidated via X-Ray diffraction. The removal efficiency of the new adsorbent material toward the 16 priority PAHs is demonstrated via GC-MS analyses at ng L -1 concentration. A removal efficiency in the 32%, to 99% range is obtained. The regeneration of the membrane is performed by exploiting the pH-driven conformational switching of the cavitand between the vase form, where the PAHs uptake takes place, to the kite one, where the PAHs release occurs. The absorbance and regeneration capability of the membrane are successfully tested in four uptake/release cycles and the morphological stability., (© 2021 The Authors. Small published by Wiley-VCH GmbH.)

Published
2022
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