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.
Papers
More filters
Journal ArticleDOI
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
A. Smahi,Gilles Courtois,Pierre Vabres,Shoji Yamaoka,S. Heuertz,Arnold Munnich,Alain Israël,Nina S. Heiss,Sabine M. Klauck,Petra Kioschis,Stefan Wiemann,Annemarie Poustka,Teresa Esposito,T. Bardaro,Fernando Gianfrancesco,Alfredo Ciccodicola,Michele D'Urso,Hayley Woffendin,T. Jakins,D. Donnai,H. Stewart,Susan Kenwrick,Swaroop Aradhya,Takanori Yamagata,Michael J. Levy,Richard A. Lewis,David L. Nelson +26 more
TL;DR: Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means that NF-κB activation is defective in IP cells.
Journal ArticleDOI
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
Omar M. E. Albagha,Sachin Wani,Micaela Rios Visconti,Nerea Alonso,Kirsteen Goodman,Maria Luisa Brandi,Tim Cundy,Pui Yan Jenny Chung,Rosemary Dargie,Jean-Pierre Devogelaer,Alberto Falchetti,William D. Fraser,Luigi Gennari,Fernando Gianfrancesco,M. Hooper,Wim Van Hul,Gianluca Isaia,Geoff Nicholson,Ranuccio Nuti,Socrates E. Papapoulos,Javier del Pino Montes,Thomas Ratajczak,Thomas Ratajczak,Sarah L. Rea,Sarah L. Rea,Domenico Rendina,Rogelio González-Sarmiento,Marco Di Stefano,L.C. Ward,John P. Walsh,John P. Walsh,Stuart H. Ralston +31 more
TL;DR: Three new loci are identified and their association with PDB is confirmed in 2,215 affected individuals (cases) and 4,370 controls from seven independent populations, providing new insights into the genetic architecture and pathophysiology of PDB.
Journal ArticleDOI
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
Alfredo Ciccodicola,Maurizio D'Esposito,Teresa Esposito,Fernando Gianfrancesco,Carmela Migliaccio,Maria Giuseppina Miano,Maria R. Matarazzo,Marcella Vacca,Annamaria Franzè,Monica Cuccurese,Massimo Cocchia,Anna Curci,Antonio Terracciano,Anna Torino,Silvia Cocchia,Grazia Mercadante,Emilio Pannone,Nicoletta Archidiacono,Mariano Rocchi,David Schlessinger,Michele D'Urso +20 more
TL;DR: These properties make Xq/YqPAR a model for studies of region-specific gene inactivation, telomere evolution, and involvement in sex-limited conditions.
Journal ArticleDOI
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer.
P. Baldinu,Antonio Cossu,Antonella Manca,Maria P. Satta,Maria Cristina Sini,Carla Rozzo,Salvatore Dessole,Pier Luigi Cherchi,Fernando Gianfrancesco,A. Pintus,Annangela Carboni,Angelo Deiana,Francesco Tanda,Giuseppe Palmieri +13 more
TL;DR: This article identified three alternative transcripts of a novel human gene, CASC2 (cancer susceptibility candidate 2; formely C10orf5), encoding a short protein of 102 amino acids with no similarity to any other known gene product.
Journal ArticleDOI
FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women
Domenico Rendina,Fernando Gianfrancesco,Gianpaolo De Filippo,Daniela Merlotti,Teresa Esposito,Alessandra Mingione,Ranuccio Nuti,Pasquale Strazzullo,Giuseppe Mossetti,Luigi Gennari +9 more
TL;DR: The SNP rs 6166 of the FSHR gene significantly influences BMD in postmenopausal women, and AA rs6166 women are at increased risk of post menopausal osteoporosis compared with GG rs6165 women, independently of circulating levels of FSH and estrogens.