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Page 1
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C. Forte G, et al. Among authors: pantaleo a. Int J Mol Sci. 2023 Dec 12;24(24):17388. doi: 10.3390/ijms242417388. Int J Mol Sci. 2023. PMID: 38139222 Free PMC article. Review.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: pantaleo a. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
Patruno M, De Summa S, Resta N, Caputo M, Costanzo S, Digennaro M, Pilato B, Bagnulo R, Pantaleo A, Simone C, Natalicchio MI, De Matteis E, Tarantino P, Tommasi S, Paradiso A. Patruno M, et al. Among authors: pantaleo a. Cancers (Basel). 2021 Sep 21;13(18):4714. doi: 10.3390/cancers13184714. Cancers (Basel). 2021. PMID: 34572941 Free PMC article.
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, De Rinaldis M, Rosati A, Kerkhof J, Sadikovic B, Resta N. Bukvic N, et al. Among authors: pantaleo a. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.
SMYD3 Modulates the HGF/MET Signaling Pathway in Gastric Cancer.
De Marco K, Lepore Signorile M, Di Nicola E, Sanese P, Fasano C, Forte G, Disciglio V, Pantaleo A, Varchi G, Del Rio A, Grossi V, Simone C. De Marco K, et al. Among authors: pantaleo a. Cells. 2023 Oct 18;12(20):2481. doi: 10.3390/cells12202481. Cells. 2023. PMID: 37887325 Free PMC article.
The chromatin remodeling factors EP300 and TRRAP are novel SMYD3 interactors involved in the emerging 'nonmutational epigenetic reprogramming' cancer hallmark.
Fasano C, Lepore Signorile M, Di Nicola E, Pantaleo A, Forte G, De Marco K, Sanese P, Disciglio V, Grossi V, Simone C. Fasano C, et al. Among authors: pantaleo a. Comput Struct Biotechnol J. 2023 Oct 12;21:5240-5248. doi: 10.1016/j.csbj.2023.10.015. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 37954147 Free PMC article.
SMYD3 Modulates AMPK-mTOR Signaling Balance in Cancer Cell Response to DNA Damage.
Lepore Signorile M, Sanese P, Di Nicola E, Fasano C, Forte G, De Marco K, Disciglio V, Latrofa M, Pantaleo A, Varchi G, Del Rio A, Grossi V, Simone C. Lepore Signorile M, et al. Among authors: pantaleo a. Cells. 2023 Nov 17;12(22):2644. doi: 10.3390/cells12222644. Cells. 2023. PMID: 37998381 Free PMC article.
Uncoupling p38α nuclear and cytoplasmic functions and identification of two p38α phosphorylation sites on β-catenin: implications for the Wnt signaling pathway in CRC models.
Lepore Signorile M, Fasano C, Forte G, De Marco K, Sanese P, Disciglio V, Di Nicola E, Pantaleo A, Simone C, Grossi V. Lepore Signorile M, et al. Among authors: pantaleo a. Cell Biosci. 2023 Dec 1;13(1):223. doi: 10.1186/s13578-023-01175-4. Cell Biosci. 2023. PMID: 38041178 Free PMC article.
161 results