List of works - Gian Marco Ghiggeri

Blue silver: a very sensitive colloidal Coomassie G-250 staining for proteome analysis

scientific article

Genome-wide association study identifies susceptibility loci for IgA nephropathy

scientific article

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

scientific article

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

scientific article

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

scientific article

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

scientific article

Circulating suPAR in two cohorts of primary FSGS.

scientific article

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

scientific article

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

scientific article

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

article

SIX2 and BMP4 mutations associate with anomalous kidney development

scientific article

The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

scientific article published on 08 June 2011

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

scientific article

Short-term effects of rituximab in children with steroid- and calcineurin-dependent nephrotic syndrome: a randomized controlled trial

scientific article

MYH9-Related Disease

Autoimmunity in membranous nephropathy targets aldose reductase and SOD2.

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Copy-number disorders are a common cause of congenital kidney malformations

scientific article

Broadening the spectrum of diseases related to podocin mutations

scientific article

Rituximab in children with resistant idiopathic nephrotic syndrome

scientific article

Mutations in DSTYK and dominant urinary tract malformations

scientific article

Prediction and treatment of recurrent focal segmental glomerulosclerosis after renal transplantation in children

scientific article published on 01 December 1999

Repetitive fragmentation products of albumin and alpha1-antitrypsin in glomerular diseases associated with nephrotic syndrome.

scientific article published on 27 September 2006

Rituximab in Children with Steroid-Dependent Nephrotic Syndrome: A Multicenter, Open-Label, Noninferiority, Randomized Controlled Trial

scientific article

Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome

scientific article published on 05 June 2013

Lysyl Oxidase Activates the Transcription Activity of Human Collagene III Promoter

scientific article published in Journal of Biological Chemistry

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

scientific article

Posttransplant de novo donor-specific hla antibodies identify pediatric kidney recipients at risk for late antibody-mediated rejection.

scientific article

Coexistence of different circulating anti-podocyte antibodies in membranous nephropathy.

scientific article

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

scientific article

Uromodulin storage diseases: clinical aspects and mechanisms

scientific article

Direct characterization of target podocyte antigens and auto-antibodies in human membranous glomerulonephritis: Alfa-enolase and borderline antigens.

scientific article

New insights into the pathogenesis and the therapy of recurrent focal glomerulosclerosis.

scientific article

Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis

scientific article published on December 1, 2001

Defective intracellular trafficking of uromodulin mutant isoforms

scientific article published on 30 September 2006

Oxidative stress and galactose-deficient IgA1 as markers of progression in IgA nephropathy

scientific article

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

article

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

article

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

scientific article

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms

scientific article

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

scientific article

Active Focal Segmental Glomerulosclerosis Is Associated with Massive Oxidation of Plasma Albumin

scientific article published on 07 February 2007

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

scientific article

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

scientific article published on 01 December 1998

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype

scientific article

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

Local TNF causes NFATc1-dependent cholesterol-mediated podocyte injury

scientific article published on 02 August 2016

List of works by Gian Marco Ghiggeri

Blue silver: a very sensitive colloidal Coomassie G-250 staining for proteome analysis

Genome-wide association study identifies susceptibility loci for IgA nephropathy

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

Circulating suPAR in two cohorts of primary FSGS.

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

SIX2 and BMP4 mutations associate with anomalous kidney development

The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

Short-term effects of rituximab in children with steroid- and calcineurin-dependent nephrotic syndrome: a randomized controlled trial

MYH9-Related Disease

Autoimmunity in membranous nephropathy targets aldose reductase and SOD2.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Copy-number disorders are a common cause of congenital kidney malformations

Broadening the spectrum of diseases related to podocin mutations

Rituximab in children with resistant idiopathic nephrotic syndrome

Mutations in DSTYK and dominant urinary tract malformations

Prediction and treatment of recurrent focal segmental glomerulosclerosis after renal transplantation in children

Repetitive fragmentation products of albumin and alpha1-antitrypsin in glomerular diseases associated with nephrotic syndrome.

Rituximab in Children with Steroid-Dependent Nephrotic Syndrome: A Multicenter, Open-Label, Noninferiority, Randomized Controlled Trial

Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome

Lysyl Oxidase Activates the Transcription Activity of Human Collagene III Promoter

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

Posttransplant de novo donor-specific hla antibodies identify pediatric kidney recipients at risk for late antibody-mediated rejection.

Coexistence of different circulating anti-podocyte antibodies in membranous nephropathy.

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

Uromodulin storage diseases: clinical aspects and mechanisms

Direct characterization of target podocyte antigens and auto-antibodies in human membranous glomerulonephritis: Alfa-enolase and borderline antigens.

New insights into the pathogenesis and the therapy of recurrent focal glomerulosclerosis.

Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis

Defective intracellular trafficking of uromodulin mutant isoforms

Oxidative stress and galactose-deficient IgA1 as markers of progression in IgA nephropathy

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Active Focal Segmental Glomerulosclerosis Is Associated with Massive Oxidation of Plasma Albumin

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

Local TNF causes NFATc1-dependent cholesterol-mediated podocyte injury