Giuseppe Novelli - Selected Publications#

1: Colafrancesco S, Ciccacci C, Priori R, Latini A, Picarelli G, Arienzo F, Novelli G, Valesini G, Perricone C, Borgiani P. STAT4, TRAF3IP2, IL10, and HCP5
Polymorphisms in Sjögren's Syndrome: Association with Disease Susceptibility and Clinical Aspects. J Immunol Res. 2019 Feb 10;2019:7682827. doi: 10.1155/2019/7682827. eCollection 2019. PubMed PMID: 30882006; PubMed Central PMCID: PMC6387711.

2: Pucci S, Polidoro C, Greggi C, Amati F, Morini E, Murdocca M, Biancolella M, Orlandi A, Sangiuolo F, Novelli G. Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes. Cell Death Dis. 2019 Jan 18;10(2):53. doi: 10.1038/s41419-018-1279-1. PubMed PMID: 30718451; PubMed Central PMCID: PMC6362207.

3: Spitalieri P, Talarico RV, Murdocca M, Fontana L, Marcaurelio M, Campione E,

Massa R, Meola G, Serafino A, Novelli G, Sangiuolo F, Botta A. Generation and

Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2.

Front Physiol. 2018 Jul 27;9:967. doi: 10.3389/fphys.2018.00967. eCollection

2018. PubMed PMID: 30100878; PubMed Central PMCID: PMC6074094.

4: Capuano R, Spitalieri P, Talarico RV, Catini A, Domakoski AC, Martinelli E,

Scioli MG, Orlandi A, Cicconi R, Paolesse R, Novelli G, Di Natale C, Sangiuolo F.

Volatile compounds emission from teratogenic human pluripotent stem cells

observed during their differentiation in vivo. Sci Rep. 2018 Jul 23;8(1):11056.

doi: 10.1038/s41598-018-29212-0. PubMed PMID: 30038375; PubMed Central PMCID:


5: Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I,

Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed

Disease Network Italy. Biallelic variants in the ciliary gene TMEM67 cause RHYNS

syndrome. Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi:

10.1038/s41431-018-0183-6. Epub 2018 Jun 11. PubMed PMID: 29891882; PubMed

Central PMCID: PMC6117343.

6: Spitalieri P, Talarico RV, Caioli S, Murdocca M, Serafino A, Girasole M,

Dinarelli S, Longo G, Pucci S, Botta A, Novelli G, Zona C, Mango R, Sangiuolo F.

Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through

human iPSC-derived cardiomyocytes. J Mol Cell Cardiol. 2018 May;118:95-109. doi:

10.1016/j.yjmcc.2018.03.012. Epub 2018 Mar 15. PubMed PMID: 29551391.

7: Capuano R, Spitalieri P, Talarico RV, Domakoski AC, Catini A, Paolesse R,

Martinelli E, Novelli G, Sangiuolo F, Di Natale C. A preliminary analysis of

volatile metabolites of human induced pluripotent stem cells along the in vitro

differentiation. Sci Rep. 2017 May 9;7(1):1621. doi: 10.1038/s41598-017-01790-5.

PubMed PMID: 28487523; PubMed Central PMCID: PMC5431616.

8: Botta A, Rossi G, Marcaurelio M, Fontana L, D'Apice MR, Brancati F, Massa R,

G Monckton D, Sangiuolo F, Novelli G. Identification and characterization of 5'

CCG interruptions in complex DMPK expanded alleles. Eur J Hum Genet. 2017

Feb;25(2):257-261. doi: 10.1038/ejhg.2016.148. Epub 2016 Nov 23. PubMed PMID:

27876818; PubMed Central PMCID: PMC5255948.

9: Murdocca M, Ciafrè SA, Spitalieri P, Talarico RV, Sanchez M, Novelli G,

Sangiuolo F. SMA Human iPSC-Derived Motor Neurons Show Perturbed Differentiation

and Reduced miR-335-5p Expression. Int J Mol Sci. 2016 Jul 30;17(8). pii: E1231.

doi: 10.3390/ijms17081231. PubMed PMID: 27483257; PubMed Central PMCID:


10: Pierandrei S, Luchetti A, Sanchez M, Novelli G, Sangiuolo F, Lucarelli M. The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes. Mol Ther Nucleic Acids. 2016 Apr 5;5:e304. doi: 10.1038/mtna.2016.2. PubMed PMID: 27045208; PubMed Central PMCID: PMC5014528.

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