F
Fernando Gianfrancesco
Researcher at National Research Council
Publications - 94
Citations - 2697
Fernando Gianfrancesco is an academic researcher from National Research Council. The author has contributed to research in topics: Gene & Paget's disease of bone. The author has an hindex of 24, co-authored 87 publications receiving 2360 citations. Previous affiliations of Fernando Gianfrancesco include American Board of Legal Medicine & International Institute of Minnesota.
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Journal ArticleDOI
A Novel Pseudoautosomal Human Gene Encodes A Putative Protein Similar to Ac-like Transposases
Teresa Esposito,Fernando Gianfrancesco,Alfredo Ciccodicola,Luisa Montanini,Steve Mumm,Michele D'Urso,Antonino Forabosco +6 more
TL;DR: The cloning of a novel gene, called Tramp, in the Xp/Yp PAR region that has a functional homologue on the Y chromosome and escapes X-inactivation is reported, suggesting that this element is not an autonomous transposon.
Journal ArticleDOI
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts
Christina L. Liquori,Silvana Penco,Judith Gault,Tracey P. Leedom,Laura Tassi,Teresa Esposito,Issam A. Awad,Luigi Frati,Eric W. Johnson,Ferdinando Squitieri,Douglas A. Marchuk,Fernando Gianfrancesco +11 more
TL;DR: There are elements within all three of the CCM genes that predispose them to large deletion/duplication events but that the common deletion spanning CCM2 exons 2–10 appears to be specific to the US population due to a founder effect.
Journal ArticleDOI
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.
Fernando Gianfrancesco,Domenico Rendina,Marco Di Stefano,Alessandra Mingione,Teresa Esposito,Daniela Merlotti,Salvatore Gallone,Sara Magliocca,Alice Goode,Daniela Formicola,Giovanna Morello,Robert Layfield,Annalisa Frattini,Gianpaolo De Filippo,Ranuccio Nuti,Mark S. Searle,Pasquale Strazzullo,Giancarlo Isaia,Giuseppe Mossetti,Luigi Gennari +19 more
TL;DR: These results provide the first evidence that genetic variation within the OPG/RANK/RankL system influences the severity of PBD in synergistic action with SQSTM1 gene mutations.
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Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C β1
Daniela Peruzzi,Giuseppe Calabrese,Irene Faenza,Lucia Manzoli,Alessandro Matteucci,Fernando Gianfrancesco,Anna Maria Billi,Liborio Stuppia,Giandomenico Palka,Lucio Cocco +9 more
TL;DR: The identification and chromosome mapping of human PLC beta(1) could pave the way for further investigations on the role exerted both in normal human cells and in human tumours by PLCbeta(1), which has been shown to behave as a key signalling intermediate in the control of the cell cycle.
Journal ArticleDOI
Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations
Fernando Gianfrancesco,Milena Cannella,Tiziana Martino,Vittorio Maglione,Teresa Esposito,Gualtiero Innocenzi,Emilia Vitale,Christina L. Liquori,Douglas A. Marchuk,Ferdinando Squitieri +9 more
TL;DR: Novel CCM mutations associated with a particularly high variability of the penetrance causing, in some cases, reduced expression of clinical symptoms and sporadic cases with apparent negative family history are described, emphasizing the importance of DNA‐based diagnostics and genetic counseling to identify unaffected mutation carriers subjects, even at advanced age.