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Items: 1 to 50 of 196

1.

Blockade of IGF2R improves muscle regeneration and ameliorates Duchenne muscular dystrophy.

Bella P, Farini A, Banfi S, Parolini D, Tonna N, Meregalli M, Belicchi M, Erratico S, D'Ursi P, Bianco F, Legato M, Ruocco C, Sitzia C, Sangiorgi S, Villa C, D'Antona G, Milanesi L, Nisoli E, Mauri P, Torrente Y.

EMBO Mol Med. 2019 Dec 2:e11019. doi: 10.15252/emmm.201911019. [Epub ahead of print]

2.

Cationic diarylporphyrins: In vitro versatile anticancer and antibacterial photosensitizers.

Caruso E, Malacarne MC, Banfi S, Gariboldi MB, Orlandi VT.

J Photochem Photobiol B. 2019 Aug;197:111548. doi: 10.1016/j.jphotobiol.2019.111548. Epub 2019 Jul 2.

PMID:
31288120
3.

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.

Cappuccio G, Attanasio S, Alagia M, Mutarelli M, Borzone R, Karali M, Genesio R, Mormile A, Nitsch L, Imperati F, Esposito A, Banfi S, Del Giudice E, Brunetti-Pierri N.

Eur J Hum Genet. 2019 Sep;27(9):1475-1480. doi: 10.1038/s41431-019-0430-5. Epub 2019 May 31.

PMID:
31152157
4.

miR-181a/b downregulation exerts a protective action on mitochondrial disease models.

Indrieri A, Carrella S, Romano A, Spaziano A, Marrocco E, Fernandez-Vizarra E, Barbato S, Pizzo M, Ezhova Y, Golia FM, Ciampi L, Tammaro R, Henao-Mejia J, Williams A, Flavell RA, De Leonibus E, Zeviani M, Surace EM, Banfi S, Franco B.

EMBO Mol Med. 2019 May;11(5). pii: e8734. doi: 10.15252/emmm.201708734.

5.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F; TUDP, Brunetti-Pierri N.

Mol Genet Genomic Med. 2019 Jun;7(6):e682. doi: 10.1002/mgg3.682. Epub 2019 Apr 11.

6.

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

7.

Implementation of the 2018 Human Epidermal Growth Factor Receptor 2 Guideline by American Society of Clinical Oncology/College of American Pathologists Will Reduce False-Positive Tests.

Martin V, Valera A, De Joffrey M, Banfi S, Mazzucchelli L.

Arch Pathol Lab Med. 2019 Apr;143(4):411-412. doi: 10.5858/arpa.2018-0904-LE. Epub 2019 Jan 3. No abstract available.

PMID:
30605369
8.

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.

Musacchia F, Ciolfi A, Mutarelli M, Bruselles A, Castello R, Pinelli M, Basu S, Banfi S, Casari G, Tartaglia M, Nigro V; TUDP.

BMC Bioinformatics. 2018 Dec 12;19(1):477. doi: 10.1186/s12859-018-2532-4.

9.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028.

10.

Implementation of the 2018 Human Epidermal Growth Factor Receptor 2 Guidelines by ASCO/College of American Pathologists Will Reduce False-Positive Tests.

Martin V, Valera A, De Joffrey M, Banfi S, Mazzucchelli L.

J Clin Oncol. 2018 Oct 22:JCO1800809. doi: 10.1200/JCO.18.00809. [Epub ahead of print] No abstract available.

PMID:
30346902
11.

Supplementation with a selective amino acid formula ameliorates muscular dystrophy in mdx mice.

Banfi S, D'Antona G, Ruocco C, Meregalli M, Belicchi M, Bella P, Erratico S, Donato E, Rossi F, Bifari F, Lonati C, Campaner S, Nisoli E, Torrente Y.

Sci Rep. 2018 Oct 2;8(1):14659. doi: 10.1038/s41598-018-32613-w.

12.

Non-coding RNAs in retinal development and function.

Karali M, Banfi S.

Hum Genet. 2019 Sep;138(8-9):957-971. doi: 10.1007/s00439-018-1931-y. Epub 2018 Sep 5. Review.

PMID:
30187163
13.

Core-shell poly-methyl methacrylate nanoparticles covalently functionalized with a non-symmetric porphyrin for anticancer photodynamic therapy.

Ballestri M, Caruso E, Guerrini A, Ferroni C, Banfi S, Gariboldi M, Monti E, Sotgiu G, Varchi G.

J Photochem Photobiol B. 2018 Sep;186:169-177. doi: 10.1016/j.jphotobiol.2018.07.013. Epub 2018 Jul 25.

PMID:
30064063
14.

microRNAs as biomarkers in Pompe disease.

Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G.

Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12.

PMID:
29997386
15.

Tailored-BODIPY/Amphiphilic Cyclodextrin Nanoassemblies with PDT Effectiveness.

Zagami R, Sortino G, Caruso E, Malacarne MC, Banfi S, Patanè S, Monsù Scolaro L, Mazzaglia A.

Langmuir. 2018 Jul 24;34(29):8639-8651. doi: 10.1021/acs.langmuir.8b01049. Epub 2018 Jul 16.

PMID:
29936841
16.

Increased thermogenesis by a noncanonical pathway in ANGPTL3/8-deficient mice.

Banfi S, Gusarova V, Gromada J, Cohen JC, Hobbs HH.

Proc Natl Acad Sci U S A. 2018 Feb 6;115(6):E1249-E1258. doi: 10.1073/pnas.1717420115. Epub 2018 Jan 22.

17.

MiR-211 is essential for adult cone photoreceptor maintenance and visual function.

Barbato S, Marrocco E, Intartaglia D, Pizzo M, Asteriti S, Naso F, Falanga D, Bhat RS, Meola N, Carissimo A, Karali M, Prosser HM, Cangiano L, Surace EM, Banfi S, Conte I.

Sci Rep. 2017 Dec 5;7(1):17004. doi: 10.1038/s41598-017-17331-z.

18.

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Di Iorio V, Karali M, Brunetti-Pierri R, Filippelli M, Di Fruscio G, Pizzo M, Mutarelli M, Nigro V, Testa F, Banfi S, Simonelli F.

Genes (Basel). 2017 Oct 20;8(10). pii: E280. doi: 10.3390/genes8100280.

19.

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex.

Di Fruscio G, Banfi S, Nigro V, Ballabio A.

Methods Mol Biol. 2017;1594:227-241. doi: 10.1007/978-1-4939-6934-0_15.

PMID:
28456987
20.

ANGPTL8 requires ANGPTL3 to inhibit lipoprotein lipase and plasma triglyceride clearance.

Haller JF, Mintah IJ, Shihanian LM, Stevis P, Buckler D, Alexa-Braun CA, Kleiner S, Banfi S, Cohen JC, Hobbs HH, Yancopoulos GD, Murphy AJ, Gusarova V, Gromada J.

J Lipid Res. 2017 Jun;58(6):1166-1173. doi: 10.1194/jlr.M075689. Epub 2017 Apr 15.

21.

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S.

Eur J Hum Genet. 2017 May;25(5):651-655. doi: 10.1038/ejhg.2017.23. Epub 2017 Mar 8.

22.

ANGPTL8 Blockade With a Monoclonal Antibody Promotes Triglyceride Clearance, Energy Expenditure, and Weight Loss in Mice.

Gusarova V, Banfi S, Alexa-Braun CA, Shihanian LM, Mintah IJ, Lee JS, Xin Y, Su Q, Kamat V, Cohen JC, Hobbs HH, Zambrowicz B, Yancopoulos GD, Murphy AJ, Gromada J.

Endocrinology. 2017 May 1;158(5):1252-1259. doi: 10.1210/en.2016-1894.

23.

Synthesis, photodynamic activity, and quantitative structure-activity relationship modelling of a series of BODIPYs.

Caruso E, Gariboldi M, Sangion A, Gramatica P, Banfi S.

J Photochem Photobiol B. 2017 Feb;167:269-281. doi: 10.1016/j.jphotobiol.2017.01.012. Epub 2017 Jan 10.

PMID:
28104574
24.

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.

Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N.

Hum Mol Genet. 2017 Jan 1;26(1):33-43. doi: 10.1093/hmg/ddw365.

25.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

26.

Intrafamilial heterogeneity of congenital optic disc pit maculopathy.

Rossi S, De Rosa G, D'Alterio FM, Orrico A, Banfi S, Testa F, Simonelli F.

Ophthalmic Genet. 2017 May-Jun;38(3):267-272. doi: 10.1080/13816810.2016.1188120. Epub 2016 Jun 8.

PMID:
27268460
27.

An atlas of gene expression and gene co-regulation in the human retina.

Pinelli M, Carissimo A, Cutillo L, Lai CH, Mutarelli M, Moretti MN, Singh MV, Karali M, Carrella D, Pizzo M, Russo F, Ferrari S, Ponzin D, Angelini C, Banfi S, di Bernardo D.

Nucleic Acids Res. 2016 Jul 8;44(12):5773-84. doi: 10.1093/nar/gkw486. Epub 2016 May 27.

28.

Impaired Angiogenic Potential of Human Placental Mesenchymal Stromal Cells in Intrauterine Growth Restriction.

Mandò C, Razini P, Novielli C, Anelli GM, Belicchi M, Erratico S, Banfi S, Meregalli M, Tavelli A, Baccarin M, Rolfo A, Motta S, Torrente Y, Cetin I.

Stem Cells Transl Med. 2016 Apr;5(4):451-63. doi: 10.5966/sctm.2015-0155. Epub 2016 Mar 8.

29.

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs.

Karali M, Persico M, Mutarelli M, Carissimo A, Pizzo M, Singh Marwah V, Ambrosio C, Pinelli M, Carrella D, Ferrari S, Ponzin D, Nigro V, di Bernardo D, Banfi S.

Nucleic Acids Res. 2016 Feb 29;44(4):1525-40. doi: 10.1093/nar/gkw039. Epub 2016 Jan 26.

30.

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI.

Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21.

31.

TGF-β Controls miR-181/ERK Regulatory Network during Retinal Axon Specification and Growth.

Carrella S, Barbato S, D'Agostino Y, Salierno FG, Manfredi A, Banfi S, Conte I.

PLoS One. 2015 Dec 7;10(12):e0144129. doi: 10.1371/journal.pone.0144129. eCollection 2015.

32.

Hepatic ANGPTL3 regulates adipose tissue energy homeostasis.

Wang Y, McNutt MC, Banfi S, Levin MG, Holland WL, Gusarova V, Gromada J, Cohen JC, Hobbs HH.

Proc Natl Acad Sci U S A. 2015 Sep 15;112(37):11630-5. doi: 10.1073/pnas.1515374112. Epub 2015 Aug 24.

33.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A.

Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077.

34.

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.

Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC.

Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3236-45. doi: 10.1073/pnas.1401464112. Epub 2015 Jun 8.

35.

Inactivation of ANGPTL3 reduces hepatic VLDL-triglyceride secretion.

Wang Y, Gusarova V, Banfi S, Gromada J, Cohen JC, Hobbs HH.

J Lipid Res. 2015 Jul;56(7):1296-307. doi: 10.1194/jlr.M054882. Epub 2015 May 7.

36.

Gene therapy of inherited retinal degenerations: prospects and challenges.

Trapani I, Banfi S, Simonelli F, Surace EM, Auricchio A.

Hum Gene Ther. 2015 Apr;26(4):193-200. doi: 10.1089/hum.2015.030. Review.

37.

miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth.

Carrella S, D'Agostino Y, Barbato S, Huber-Reggi SP, Salierno FG, Manfredi A, Neuhauss SC, Banfi S, Conte I.

Dev Neurobiol. 2015 Nov;75(11):1252-67. doi: 10.1002/dneu.22282. Epub 2015 Jun 11.

38.

Inherited Retinal Dystrophies: the role of gene expression regulators.

Karali M, Banfi S.

Int J Biochem Cell Biol. 2015 Apr;61:115-9. doi: 10.1016/j.biocel.2015.02.007. Epub 2015 Feb 16. Review.

PMID:
25697419
39.

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB.

Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.

PMID:
25227500
40.

Antimicrobial and anti-biofilm effect of a novel BODIPY photosensitizer against Pseudomonas aeruginosa PAO1.

Orlandi VT, Rybtke M, Caruso E, Banfi S, Tolker-Nielsen T, Barbieri P.

Biofouling. 2014 Sep;30(8):883-91. doi: 10.1080/08927014.2014.940921.

PMID:
25184429
41.

miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer.

Fernandez S, Risolino M, Mandia N, Talotta F, Soini Y, Incoronato M, Condorelli G, Banfi S, Verde P.

Oncogene. 2015 Jun;34(25):3240-50. doi: 10.1038/onc.2014.267. Epub 2014 Aug 25.

42.

The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance.

Conte I, Merella S, Garcia-Manteiga JM, Migliore C, Lazarevic D, Carrella S, Marco-Ferreres R, Avellino R, Davidson NP, Emmett W, Sanges R, Bockett N, Van Heel D, Meroni G, Bovolenta P, Stupka E, Banfi S.

Nucleic Acids Res. 2014 Jul;42(12):7793-806. doi: 10.1093/nar/gku498. Epub 2014 Jun 3.

43.

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications.

Coppola A, Romito A, Borel C, Gehrig C, Gagnebin M, Falconnet E, Izzo A, Altucci L, Banfi S, Antonarakis SE, Minchiotti G, Cobellis G.

Stem Cell Res. 2014 Mar;12(2):323-37. doi: 10.1016/j.scr.2013.11.008. Epub 2013 Nov 28.

44.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C.

Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Review.

45.

Photoinduced antibacterial activity of two dicationic 5,15-diarylporphyrins.

Orlandi VT, Caruso E, Tettamanti G, Banfi S, Barbieri P.

J Photochem Photobiol B. 2013 Oct 5;127:123-32. doi: 10.1016/j.jphotobiol.2013.08.011. Epub 2013 Aug 28.

PMID:
24041850
46.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP.

Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.

47.

miR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration.

Avellino R, Carrella S, Pirozzi M, Risolino M, Salierno FG, Franco P, Stoppelli P, Verde P, Banfi S, Conte I.

PLoS One. 2013 Apr 19;8(4):e61099. doi: 10.1371/journal.pone.0061099. Print 2013.

48.

Non-coding RNAs in the development of sensory organs and related diseases.

Conte I, Banfi S, Bovolenta P.

Cell Mol Life Sci. 2013 Nov;70(21):4141-55. doi: 10.1007/s00018-013-1335-z. Epub 2013 Apr 16. Review.

PMID:
23588489
49.

Pax6 regulates gene expression in the vertebrate lens through miR-204.

Shaham O, Gueta K, Mor E, Oren-Giladi P, Grinberg D, Xie Q, Cvekl A, Shomron N, Davis N, Keydar-Prizant M, Raviv S, Pasmanik-Chor M, Bell RE, Levy C, Avellino R, Banfi S, Conte I, Ashery-Padan R.

PLoS Genet. 2013;9(3):e1003357. doi: 10.1371/journal.pgen.1003357. Epub 2013 Mar 14.

50.

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2.

Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Surace EM, Sun J, Acerra C, Wright JF, Wellman J, High KA, Auricchio A, Bennett J, Simonelli F.

Ophthalmology. 2013 Jun;120(6):1283-91. doi: 10.1016/j.ophtha.2012.11.048. Epub 2013 Mar 6.

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