Genomes and Genes
Gian M Ghiggeri
Affiliation: G. Gaslini Institute
- Discordant evolution of nephrotic syndrome in mono- and dizygotic twinsGian Marco Ghiggeri
Nephrology Unit, G Gaslini Children s Hospital, Genoa, Italy
Pediatr Nephrol 21:419-22. 2006..Discordant outcomes indicate a major influence of environmental and/or epigenetic multifactorial mechanisms on persistence and evolution of the disease to focal-segmental glomerulosclerosis...
- Genetic approaches to human renal agenesis/hypoplasia and dysplasiaSimone Sanna Cherchi
Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Pediatr Nephrol 22:1675-84. 2007..The goal appears to be feasible with the large multicentric collaborative groups that share the same objectives and resources...
- Teaching molecular genetics: chapter 4-positional cloning of genetic disordersAldamaria Puliti
Laboratory of Molecular Genetics, Istituto G Gaslini, Genoa, Italy
Pediatr Nephrol 22:2023-9. 2007..Altogether, positional cloning has represented a fundamental step in the research on genetic renal disorders, leading to the definition of several disease mechanisms and allowing a proper diagnostic approach to many conditions...
- The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex traitFrancesco P Schena
Renal Unit, University of Bari, Italy
BMC Nephrol 6:14. 2005..The organization of a multi-centre Biobank for the collection of biological samples and clinical data from IgAN patients and relatives is an important starting point for the identification of the disease susceptibility genes...
- Post-transplant proteinuria associated with everolimus: Definition of main features with proteomicsGian Marco Ghiggeri
Division of Nephrology and Laboratory on Pathophysiology of Uremia, G Gaslini Children Hospital, Genoa, Italy
Proteomics Clin Appl 2:1327-37. 2008..Specific urinary markers reflect renal alterations related to the transplant or specific alterations associated with the drug...
- Recurrent lymphomatoid papulosis associated with nephrotic syndrome. An occurrence of uncertain originGian Marco Ghiggeri
Laboratory on Pathophysiology of Uremia, G Gaslini Children Hospital, Largo G Gaslini 5, 16148, Genova, Italy
Pediatr Nephrol 24:189-92. 2009..Even though the etiology of LYP is, in this case, uncertain, it should be considered as a clinical association of nephrotic syndrome in children and also included among potential triggers of the disease...
- Depletion of clusterin in renal diseases causing nephrotic syndromeGian Marco Ghiggeri
Laboratory on Pathophysiology of Uremia and Unit of Nephrology, Istituto Giannina Gaslini, Genova, Italy
Kidney Int 62:2184-94. 2002..In focal segmental glomerulosclerosis (FSGS), it inhibits permeability plasma factor activity and could influence proteinuria. Moreover, with aging, knockout mice for clusterin develop a progressive glomerulopathy with sclerosis...
- Protracted remission of proteinuria after combined therapy with plasmapheresis and anti-CD20 antibodies/cyclophosphamide in a child with oligoclonal IgM and glomerulosclerosisGian Marco Ghiggeri
Department of Nephrology, G Gaslini Children s Hospital, Genoa, Italy
Pediatr Nephrol 22:1953-6. 2007..Long term efficacy and safety of the association are still to be determined...
- Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutationG M Ghiggeri
Laboratory on Pathophysiology of Uremia, Department of Nephrology, G Gaslini Children s Hospital, Genoa, and Department of Biomedical Sciences Nephrology Section, University of Foggia, Italy
Am J Transplant 6:2208-11. 2006..This observation confirms the concept that recurrence of proteinuria may occur in inherited forms of FSGS so far reported only for patients carrying NPHS2 mutations and reinforces the idea on multifactorial origin of the disease...
- Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective studyGian Marco Ghiggeri
Department of Nephrology, G Gaslini Children s Hospital, Genova, Italy
Clin Ther 26:1411-8. 2004..In the past decade, immunosuppressive drugs such as cyclosporine (CsA) and cyclophosphamide have been introduced for the treatment of SRNS, but data on long-term clinical outcome (over years) are lacking...
- Glomerular albumin permeability as an in vitro model for characterizing the mechanism of focal glomerulosclerosis and predicting post-transplant recurrenceGian Marco Ghiggeri
Unit of Nephrology, G Gaslini Children s Hospital, 16148 Genoa, Italy
Pediatr Transplant 8:339-43. 2004..Only the definitive characterization and quantification in vivo of the different molecules that play a role in FSGS may furnish adequate answer...
- Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)Gian Marco Ghiggeri
Laboratory on Pathophysiology of Uremia and Laboratory of Molecular Genetics, Istituto di Ricerca e Cura a Carattere Scientifico G Gaslini, Genova, Italy
Am J Kidney Dis 41:95-104. 2003..Although it recently was shown that FTNS derives from mutation of MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA), its pathophysiological characteristics remain unknown...
- Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndromeSimone Sanna-Cherchi
Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
Kidney Int 80:389-96. 2011..Our findings demonstrate the utility of exome sequencing for rapidly identifying candidate genes for human SRNS...
- Combinatorial peptide ligand libraries for the analysis of low-expression proteins: Validation for normal urine and definition of a first protein MAPLaura Santucci
G Gaslini Children Hospital, Laboratory of Pathophysiology of Uremia, Genoa, Italy
Proteomics 12:509-15. 2012..This map will be completed in a near future; in the meantime this would represent the basic reference sample for newly developed studies on human diseases...
- High-resolution 2-DE for resolving proteins, protein adducts and complexes in plasmaGiovanni Candiano
Laboratory on Pathophysiology of Uremia, G Gaslini Children Hospital, Largo G Gaslini, Genova, Italy
Electrophoresis 29:682-94. 2008..Our system provides therefore new tools for resolving proteins, protein aggregates and complexes and amplifies the potentiality of traditional electrophoretic analysis...
- Circulating suPAR in two cohorts of primary FSGSChangli Wei
Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA
J Am Soc Nephrol 23:2051-9. 2012..The associations between a change in circulating suPAR with different therapeutic regimens and with remission support the role of suPAR in the pathogenesis of FSGS...
- Pregnancy and progression of IgA nephropathy: results of an Italian multicenter studyMonica Limardo
Department of Nephrology, Dialysis and Transplantation, A Manzoni Hospital, Lecco, Italy
Am J Kidney Dis 56:506-12. 2010..This study aims to compare the long-term outcome of kidney disease in women with IgA nephropathy and preserved kidney function who did and did not become pregnant...
- Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutationsGianluca Caridi
Division of Nephrology and Laboratory on Pathophysiology of Uremia Istituto Giannina Gaslini, Genova, Italy
Clin J Am Soc Nephrol 4:1065-72. 2009..Mutations in nephrin (NPHS1) and podocin (NPHS2) genes represent a major cause of idiopathic nephrotic syndrome (NS) in children. It is not yet clear whether the presence of a single mutation acts as a modifier of the clinical course of NS...
- Autoimmunity in membranous nephropathy targets aldose reductase and SOD2Marco Prunotto
Division of Nephrology and Laboratory on Pathophysiology of Uremia, G Gaslini Children Hospital, Genova, Italy
J Am Soc Nephrol 21:507-19. 2010..In conclusion, our data support AR and SOD2 as renal antigens of human MN and suggest that oxidative stress may drive glomerular SOD2 expression...