19942019

Research output per year

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Research Output

2019

Cell-laden hydrogel as a clinical-relevant 3D model for analyzing neuroblastoma growth, immunophenotype, and susceptibility to therapies

Marrella, A., Dondero, A., Aiello, M., Casu, B., Olive, D., Regis, S., Bottino, C., Pende, D., Meazza, R., Caluori, G., Castriconi, R. & Scaglione, S., 2019, In : Frontiers in Immunology. 10, AUG

Research output: Contribution to journalArticle

Cell-laden hydrogel as a clinical-relevant 3D model for analyzing neuroblastoma growth, immunophenotype, and susceptibility to therapies

Marrella, A., Dondero, A., Aiello, M., Casu, B., Olive, D., Regis, S., Bottino, C., Pende, D., Meazza, R., Caluori, G., Castriconi, R. & Scaglione, S., Jan 1 2019, In : Frontiers in Immunology. 10, AUG, Article 1876.

Research output: Contribution to journalArticle

Open Access

New Insights and Perspectives in Fanconi Anemia Research

Degan, P., Cappelli, E., Regis, S. & Ravera, S., Mar 1 2019, In : Trends in Molecular Medicine. 25, 3, p. 167-170 4 p.

Research output: Contribution to journalShort survey

New Insights and Perspectives in Fanconi Anemia Research

Degan, P., Cappelli, E., Regis, S. & Ravera, S., 2019, In : Trends in Molecular Medicine. 25, 3, p. 167-170 4 p.

Research output: Contribution to journalArticle

Novel Immunoregulatory Functions of IL-18, an Accomplice of TGF-β1

Casu, B., Dondero, A., Regis, S., Caliendo, F., Petretto, A., Bartolucci, M., Bellora, F., Bottino, C. & Castriconi, R., Jan 11 2019, In : Cancers. 11, 1

Research output: Contribution to journalArticle

2018

Molecular Mechanisms Directing Migration and Retention of Natural Killer Cells in Human Tissues

Castriconi, R., Carrega, P., Dondero, A., Bellora, F., Casu, B., Regis, S., Ferlazzo, G. & Bottino, C., 2018, In : Frontiers in Immunology. 9, p. 2324

Research output: Contribution to journalReview article

2017

Imatinib and nilotinib off-target effects on human NK cells, monocytes, and M2 macrophages

Bellora, F., Dondero, A., Corrias, M. V., Casu, B., Regis, S., Caliendo, F., Moretta, A., Cazzola, M., Elena, C., Vinti, L., Locatelli, F., Bottino, C. & Castriconi, R., 2017, In : Journal of Immunology. 199, 4, p. 1516-1525 10 p.

Research output: Contribution to journalArticle

Imatinib and nilotinib off-target effects on human NK cells, monocytes, and M2 macrophages

Bellora, F., Dondero, A., Corrias, M. V., Casu, B., Regis, S., Caliendo, F., Moretta, A., Cazzola, M., Elena, C., Vinti, L., Locatelli, F., Bottino, C. & Castriconi, R., Aug 15 2017, In : Journal of Immunology. 199, 4, p. 1516-1525 10 p.

Research output: Contribution to journalArticle

Imatinib and nilotinib off-target effects on human NK cells, monocytes, and M2 macrophages

Bellora, F., Dondero, A., Corrias, M. V., Casu, B., Regis, S., Caliendo, F., Moretta, A., Cazzola, M., Elena, C., Vinti, L., Locatelli, F., Bottino, C. & Castriconi, R., Aug 15 2017, In : Journal of Immunology. 199, 4, p. 1516-1525 10 p.

Research output: Contribution to journalArticle

TGF-ß1 downregulates the expression of CX3CR1 by inducing miR-27a-5p in primary human NK cells

Regis, S., Caliendo, F., Dondero, A., Casu, B., Romano, F., Loiacono, F., Moretta, A., Bottino, C. & Castriconi, R., Jul 25 2017, In : Frontiers in Immunology. 8, JUL, 868.

Research output: Contribution to journalArticle

TGF-β1 Downregulates the Expression of CX3CR1 by Inducing miR-27a-5p in Primary Human NK Cells

Regis, S., Caliendo, F., Dondero, A., Casu, B., Romano, F., Loiacono, F., Moretta, A., Bottino, C. & Castriconi, R., 2017, In : Frontiers in Immunology. 8, p. 868

Research output: Contribution to journalArticle

2014

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

Lorioli, L., Cesani, M., Regis, S., Morena, F., Grossi, S., Fumagalli, F., Acquati, S., Redaelli, D., Pini, A., Sessa, M., Martino, S., Filocamo, M. & Biffi, A., Mar 10 2014, In : Gene. 537, 2, p. 348-351 4 p.

Research output: Contribution to journalArticle

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

Biancheri, R., Grossi, S., Regis, S., Rossi, A., Corsolini, F., Rossi, D. P., Cavalli, P., Severino, M. & Filocamo, M., Mar 2014, In : Clinical Genetics. 85, 3, p. 267-272 6 p.

Research output: Contribution to journalArticle

2013
2012

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

Aureli, M., Bassi, R., Loberto, N., Regis, S., Prinetti, A., Chigorno, V., Aerts, J. M., Boot, R. G., Filocamo, M. & Sonnino, S., Nov 2012, In : Journal of Inherited Metabolic Disease. 35, 6, p. 1081-1091 11 p.

Research output: Contribution to journalArticle

2011

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Grossi, S., Regis, S., Biancheri, R., Mort, M., Lualdi, S., Bertini, E., Uziel, G., Boespflug-Tanguy, O., Simonati, A., Corsolini, F., Demir, E., Marchiani, V., Percesepe, A., Stanzial, F., Rossi, A., Vaurs-Barrière, C., Cooper, D. N. & Filocamo, M., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 40.

Research output: Contribution to journalArticle

2010

A Novel Polymorphic AP-1 Binding Element of the GFAP Promoter is Associated with Different Allelic Transcriptional Activities

Bachetti, T., DiZanni, E., Lantieri, F., Caroli, F., Regis, S., Filocamo, M., Rainero, I., Gallone, S., Cilia, R., Romano, S., Savoiardo, M., Pareyson, D., Biancheri, R., Ravazzolo, R. & Ceccherini, I., Nov 2010, In : Annals of Human Genetics. 74, 6, p. 506-515 10 p.

Research output: Contribution to journalArticle

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in hunter syndrome

Lualdi, S., Tappino, B., Di Duca, M., Dardis, A., Anderson, C. J., Biassoni, R., Thompson, P. W., Corsolini, F., Di Rocco, M., Bembi, B., Regis, S., Cooper, D. N. & Filocamo, M., Apr 2010, In : Human Mutation. 31, 4

Research output: Contribution to journalArticle

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N. & Filocamo, M., Dec 2010, In : Human Mutation. 31, 12

Research output: Contribution to journalArticle

2009

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: Identification of six novel alleles

Zampieri, S., Filocamo, M., Buratti, E., Stroppiano, M., Vlahovicek, K., Rosso, N., Bignulin, E., Regis, S., Carnevale, F., Bembi, B. & Dardis, A., Feb 2009, In : Neurogenetics. 10, 1, p. 49-58 10 p.

Research output: Contribution to journalArticle

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Tappino, B., Chuzhanova, N. A., Regis, S., Dardis, A., Corsolini, F., Stroppiano, M., Tonoli, E., Beccari, T., Rosano, C., Mucha, J., Blanco, M., Szlago, M., Di Rocco, M., Cooper, D. N. & Filocamo, M., Nov 2009, In : Human Mutation. 30, 11

Research output: Contribution to journalArticle

2008

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

Regis, S., Biancheri, R., Bertini, E., Burlina, A., Lualdi, S., Bianco, M. G., Devescovi, R., Rossi, A., Uziel, G. & Filocamo, M., Mar 2008, In : Clinical Genetics. 73, 3, p. 279-287 9 p.

Research output: Contribution to journalArticle

2007

Movement and mood disorder in two brothers with Gaucher disease

Raja, M., Azzoni, A., Giona, F., Regis, S., Grossi, S., Filocamo, M. & Sidransky, E., Oct 2007, In : Clinical Genetics. 72, 4, p. 357-361 5 p.

Research output: Contribution to journalArticle

2006

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts

Lualdi, S., Pittis, M. G., Regis, S., Parini, R., Allegri, A. E., Furlan, F., Bembi, B. & Filocamo, M., Aug 2006, In : Journal of Molecular Medicine. 84, 8, p. 692-700 9 p.

Research output: Contribution to journalArticle

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient

Regis, S., Lualdi, S., Biffi, A., Sessa, M., Corsolini, F., Parenti, G. & Filocamo, M., Sep 2006, In : Molecular Genetics and Metabolism. 89, 1-2, p. 150-155 6 p.

Research output: Contribution to journalArticle

2005

Diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene copy number by real-time PCR

Regis, S., Grossi, S., Lualdi, S., Biancheri, R. & Filocamo, M., May 2005, In : Neurogenetics. 6, 2, p. 73-78 6 p.

Research output: Contribution to journalArticle

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease [1]

Filocamo, M., Grossi, S., Stroppiano, M., Regis, S., Tortori-Donati, P., Allegri, A. & Di Rocco, M., Apr 1 2005, In : American Journal of Medical Genetics. 134 A, 1, p. 95-96 2 p.

Research output: Contribution to journalArticle

Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Lugowska, A., Amaral, O., Berger, J., Berna, L., Bosshard, N. U., Chabas, A., Fensom, A., Gieselmann, V., Gorovenko, N. G., Lissens, W., Mansson, J. E., Marcao, A., Michelakakis, H., Bernheimer, H., Ol'khovych, N. V., Regis, S., Sinke, R., Tylki-Szymanska, A. & Czartoryska, B., Nov 2005, In : Molecular Genetics and Metabolism. 86, 3, p. 353-359 7 p.

Research output: Contribution to journalArticle

2004

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

Ricci, V., Stroppiano, M., Corsolini, F., Di Rocco, M., Parenti, G., Regis, S., Grossi, S., Biancheri, R., Mazzotti, R. & Filocamo, M., Jul 2004, In : Human Mutation. 24, 1, p. 105 1 p.

Research output: Contribution to journalArticle

2003

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

Ricci, V., Regis, S., Di Duca, M. & Filocamo, M., Apr 2003, In : Human Genetics. 112, 4, p. 419-425 7 p.

Research output: Contribution to journalArticle

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome

Ricci, V., Filocamo, M., Regis, S., Corsolini, F., Stroppiano, M., Di Duca, M. & Gatti, R., Jul 1 2003, In : American Journal of Medical Genetics. 120 A, 1, p. 84-87 4 p.

Research output: Contribution to journalArticle

2002

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo, M., Mazzotti, R., Stroppiano, M., Seri, M., Giona, F., Parenti, G., Regis, S., Corsolini, F., Zoboli, S. & Gatti, R., Sep 2002, In : Human Mutation. 20, 3, p. 234-235 2 p.

Research output: Contribution to journalArticle

Genomic structure of the human UDP-GlcNAc: dolichol-P GlcNAc-1-P transferase gene

Regis, S., Dagnino, F., Caroli, F. & Filocamo, M., 2002, In : Mitochondrial DNA. 13, 5, p. 245-250 6 p.

Research output: Contribution to journalArticle

Long-term follow-up of children with chronic relapsing polyneuropathy

Bariší, N., Regis, S. & Pažanin, L., 2002, In : Pediatric Neurology. 26, 4, p. 293-297 5 p.

Research output: Contribution to journalArticle

2001

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene.

Filocamo, M., Regis, S., Mazzotti, R., Parenti, G., Stroppiano, M. & Gatti, R., Oct 2001, In : Journal of Medical Genetics. 38, 10

Research output: Contribution to journalArticle

La diagnosi molecolare nelle malattie lisosomiali

Translated title of the contribution: Molecular analysis of lysosomal storage diseaseFilocamo, M., Stroppiano, M., Regis, S., Mazzotti, R., Corsolini, F. & Bonuccelli, G., 2001, In : Gaslini. 33, 1, p. 75-83 9 p.

Research output: Contribution to journalArticle

Prenatal diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

Regis, S., Filocamo, M., Mazzotti, R., Cusano, R., Corsolini, F., Bonuccelli, G., Stroppiano, M. & Gatti, R., 2001, In : Prenatal Diagnosis. 21, 8, p. 668-671 4 p.

Research output: Contribution to journalArticle

The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II

Bonuccelli, G., Di Natale, P., Corsolini, F., Villani, G., Regis, S. & Filocamo, M., Nov 29 2001, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1537, 3, p. 233-238 6 p.

Research output: Contribution to journalArticle

2000

A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.

Bonuccelli, G., Filocamo, M., Regis, S., Corsolini, F., Mazzotti, R. & Gatti, R., Apr 2000, In : Human Mutation. 15, 4, p. 389 1 p.

Research output: Contribution to journalArticle

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II

Dagnino, F., Stroppiano, M., Regis, S., Bonuccelli, G. & Filocamo, M., Nov 2000, In : Human Heredity. 50, 6, p. 331-333 3 p.

Research output: Contribution to journalArticle

1999