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Fernando Gianfrancesco

Explore the profile of Fernando Gianfrancesco including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 53
Citations 774
Followers 0
Related Specialties
Genetics
Neurology
Molecular Biology
Top 10 Co-Authors
Teresa Esposito
Domenico Rendina
Pasquale Strazzullo
Luigi Gennari
Gianpaolo DE Filippo
Daniela Merlotti
Federica Scotto di Carlo
Ranuccio Nuti
Giuseppe Mossetti
Daniela Formicola
Published In
J Bone Miner Res
Orphanet J Rare Dis
Am J Hum Genet
BMC Med Genet
Calcif Tissue Int
Affiliations
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Recent Articles
11.
Early posterior vitreous detachment is associated with LAMA5 dominant mutation
Napolitano F, Di Iorio V, Di Iorio G, Melone M, Gianfrancesco F, Simonelli F, et al.
Ophthalmic Genet . 2018 Dec; 40(1):39-42. PMID: 30589377
Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the...
12.
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location
Scotto di Carlo F, Divisato G, Iacoangeli M, Esposito T, Gianfrancesco F
BMC Cancer . 2018 Apr; 18(1):358. PMID: 29609578
Background: Giant Cell Tumour of Bone (GCT) is a locally aggressive primary bone tumour that usually occurs at the epiphyses of the long bones of the appendicular skeleton with a...
13.
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density
Alonso N, Estrada K, Albagha O, Herrera L, Reppe S, Olstad O, et al.
Ann Rheum Dis . 2017 Nov; 77(3):378-385. PMID: 29170203
Objectives: To identify genetic determinants of susceptibility to clinical vertebral fractures, which is an important complication of osteoporosis. Methods: Here we conduct a genome-wide association study in 1553 postmenopausal women...
14.
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone
Silva I, Conceicao N, Gagnon E, Caiado H, Brown J, Gianfrancesco F, et al.
Biochim Biophys Acta Mol Basis Dis . 2017 Oct; 1864(1):143-151. PMID: 28993189
Paget's disease of bone (PDB) is the second most frequent metabolic bone disease after osteoporosis. Genetic factors play an important role in PDB, but to date PDB causing mutations were...
15.
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences
Divisato G, Scotto di Carlo F, Pazzaglia L, Rizzo R, Coviello D, Benassi M, et al.
Oncotarget . 2017 Oct; 8(38):63121-63131. PMID: 28968976
Giant Cell Tumor of Bone (GCT) is a tumor characterized by neoplastic mesenchymal stromal cells and a high number of osteoclast-like multinucleated giant cells. Rarely, GCT could arise in bones...
16.
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix
Sampaolo S, Napolitano F, Tirozzi A, Reccia M, Lombardi L, Farina O, et al.
J Med Genet . 2017 Jul; 54(10):710-720. PMID: 28735299
Background: The laminin alpha 5 gene () plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning,...
17.
Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation
Esposito T, De Stefano G, Reccia M, Di Lorenzo I, Napolitano F, Scalabri F, et al.
Nephron . 2017 Feb; 136(2):143-150. PMID: 28178702
Background: N-linked glycosylation, which is a post-translational modification process, plays an important role in protein folding, intracellular trafficking and membrane targeting, as well as in regulating the protein function. Recently,...
18.
Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers
Rendina D, DE Filippo G, Gianfrancesco F, Muscariello R, Schiano di Cola M, Strazzullo P, et al.
J Nephrol . 2016 Sep; 30(3):411-418. PMID: 27639591
Background: Genetic factors play a key role in the pathogenesis of hypocitraturia, a common risk factor for nephrolithiasis. The Na-dicarboxylate cotransporter NaDC1, encoded by the sodium-dicarboxylate cotransporter (SLC13A2) gene, is...
19.
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor
Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, et al.
Am J Hum Genet . 2016 Feb; 98(2):275-86. PMID: 26849110
Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the...
20.
Hypovitaminosis D and organ damage in patients with arterial hypertension: a multicenter double blind randomised controlled trial of cholecalciferol supplementation (HYPODD) : study design, clinical procedures and treatment protocol
Rendina D, Ippolito R, DElia L, Giacchetti G, Lonati C, Gianfrancesco F, et al.
High Blood Press Cardiovasc Prev . 2015 Mar; 22(2):135-42. PMID: 25771895
Introduction: At this time, good quality randomized clinical trials assessing the effects of vitamin D supplementation on cardiometabolic outcomes are lacking in the international literature. Aim: To fill this gap,...