List of works - Gianluca Caridi

A DNA element in the alpha1 type III collagen promoter mediates a stimulatory response by angiotensin II.

scientific article published on August 2000

A new biallelic DNA polymorphism of the human COL5A1 gene

article

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

scientific article

A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient

article

A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman

article

A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family

article

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

scientific article published on 26 November 2012

A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy.

scientific article published in January 2009

A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

scientific article published on 03 September 2020

A novel splicing mutation causes analbuminemia in a Portuguese boy

article

A novel splicing mutation in the ALB gene causing analbuminaemia in a Portuguese woman

article

A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant

scientific article published on 5 November 2015

A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man

article

A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family

scientific article published on January 2016

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

scientific article published on 26 November 2013

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

scientific article published on 14 May 2009

A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.

scientific article

A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia

article

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

scientific journal article

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

scientific article published on 07 February 2007

Adverse events linked with the use of chimeric and humanized anti-CD20 antibodies in children with idiopathic nephrotic syndrome.

scientific article published on 13 February 2018

Albumin Benkovac (c.1175 A > G; p.Glu392Gly): a novel genetic variant of human serum albumin

scientific article

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

scientific article

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

article

Analbuminemia Zonguldak: Case report and mutational analysis

scientific article published in 2008

Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT)

article

Analbuminemia produced by a novel splicing mutation.

scientific article published in August 2007

Anti-CD20 Antibodies for Idiopathic Nephrotic Syndrome in Children

scientific article published on 19 November 2015

Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.

scientific article

Apoptosis of Human Neuroblastoma Cells Induced by Liposome-Encapsulated Fenretinide

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

scientific article published on 01 March 1993

Association of the macrophage migration inhibitory factor -173*C allele with childhood nephrotic syndrome

scientific article published on 29 January 2008

Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion

scholarly article

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

scientific article published on 12 August 2019

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

scientific article published on 01 October 1998

Broadening the spectrum of diseases related to podocin mutations

scientific article

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

scientific article

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

scientific article

COVID-19 in Children with Nephrotic Syndrome on Anti-CD20 Chronic Immunosuppression

scientific article published on 10 July 2020

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases

scientific article published on 9 August 2006

Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening

article

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations

scientific article published on 30 April 2009

Collapsing glomerulopathy associated with inherited mitochondrial injury

Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene

scientific article

Congenital analbuminaemia diagnosed in adulthood in an Australian family

article

Congenital analbuminaemia: molecular defects and biochemical and clinical aspects

scientific article published on 21 April 2013

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene

scientific article published on 15 February 2014

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

scientific article

Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study

scientific article published on September 2004

Depletion of clusterin in renal diseases causing nephrotic syndrome

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

article

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

scientific article

Effects of peritoneal effluents on mesothelial cells in culture: cell proliferation and extracellular matrix regulation

scientific article published in September 1996

Effects of peritoneal effluents on mesothelial cells m culture: cell proliferation and extracellular matrix regulation

article

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

scientific article published in June 2000

Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus

article

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

article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Expression of Nuclear Transcription Factor PAX2 in Renal Biopsies of Juvenile Nephronophthisis

scientific article published on 01 August 2002

Expression of collagen by renal fibroblasts treated with FK 506 in vitro.

scientific article published on June 1998

Extracellular matrix formation by epithelial cells from human polycystic kidney cysts in culture

article

Familial forms of nephrotic syndrome.

scientific article published on 09 December 2008

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

scientific article

Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait

scientific article

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

scientific article

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

scientific article

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Genetic risk factors in typical haemolytic uraemic syndrome

scientific article

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

scientific article

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

article

Genotype–phenotype associations in WT1 glomerulopathy

Glomerular albumin permeability as anin vitromodel for characterizing the mechanism of focal glomerulosclerosis and predicting post-transplant recurrence

Glomerulocystic kidney disease in a family

scientific article published on 01 May 2002

Glomerulocystic kidney disease in hypomelanosis of Ito

Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria

article

Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure

scientific article published on 21 February 2003

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

scientific article

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

scientific article

Immature Renal Structures Associated With a Novel UMOD Sequence Variant

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

scientific article published on 06 November 2018

Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.

scientific article published in June 2001

Induction of apoptosis in human neuroblastoma cells by abrogation of integrin-mediated cell adhesion

scientific article published on 01 March 1997

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

scientific article published in April 2004

Lack of cardiac anomalies in children with NPHS2 mutations

scientific article published on 11 January 2007

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

scientific article

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

scientific article published on 26 January 2007

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

scientific article

Low-dose ofatumumab for multidrug-resistant nephrotic syndrome in children: a randomized placebo-controlled trial

scientific article published on 28 January 2020

Mapping of the human COL5A1 gene to chromosome 9q34.3

article

Molecular and Cellular Mechanisms for Proteinuria in Minimal Change Disease.

scientific article published on 11 June 2018

Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene

scientific article published on 25 October 2011

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

scientific journal article

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.

scientific article

Mutations in DSTYK and dominant urinary tract malformations

scientific article

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

scientific article

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

scientific article

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

scientific article

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association

scientific article published on 9 August 2006

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

scientific article published on January 2010

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

article

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected]

scientific article published on December 2006

Posttransplant Recurrence of Proteinuria in a Case of Focal Segmental Glomerulosclerosis Associated with WT1 Mutation

scientific article published on 19 June 2006

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability

scientific article published on 17 December 2013

Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.

scientific article published in January 2006

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

scientific article

Recurrent Hypoglycemia in a Case of Congenital Analbuminemia

scientific article published on 27 February 2020

Recurrent lymphomatoid papulosis associated with nephrotic syndrome. An occurrence of uncertain origin

scientific article published on 20 November 2007

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

scientific article

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

scientific article

Research update for articles published in EJCI in 2013.

scientific article published on October 2015

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

Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome

scientific article

Severe congenital neutropenia: a negative synergistic effect of multiple mutations ofELANE(ELA2) gene

article

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy

article

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

scientific article

Teaching molecular genetics: chapter 4-positional cloning of genetic disorders

scientific article

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer

scientific article published on January 2003

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

scientific article published on 11 January 2012

Urine proteome analysis in Dent's disease shows high selective changes potentially involved in chronic renal damage

scientific article published on 11 September 2015

Uromodulin storage diseases: clinical aspects and mechanisms

scientific article

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

scientific article published on 5 December 2017

List of works by Gianluca Caridi

A DNA element in the alpha1 type III collagen promoter mediates a stimulatory response by angiotensin II.

A new biallelic DNA polymorphism of the human COL5A1 gene

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient

A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman

A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy.

A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

A novel splicing mutation causes analbuminemia in a Portuguese boy

A novel splicing mutation in the ALB gene causing analbuminaemia in a Portuguese woman

A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant

A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man

A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.

A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia

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

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

Adverse events linked with the use of chimeric and humanized anti-CD20 antibodies in children with idiopathic nephrotic syndrome.

Albumin Benkovac (c.1175 A > G; p.Glu392Gly): a novel genetic variant of human serum albumin

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

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

Analbuminemia Zonguldak: Case report and mutational analysis

Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT)

Analbuminemia produced by a novel splicing mutation.

Anti-CD20 Antibodies for Idiopathic Nephrotic Syndrome in Children

Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.

Apoptosis of Human Neuroblastoma Cells Induced by Liposome-Encapsulated Fenretinide

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

Association of the macrophage migration inhibitory factor -173*C allele with childhood nephrotic syndrome

Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

Broadening the spectrum of diseases related to podocin mutations

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

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

COVID-19 in Children with Nephrotic Syndrome on Anti-CD20 Chronic Immunosuppression

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases

Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations

Collapsing glomerulopathy associated with inherited mitochondrial injury

Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene

Congenital analbuminaemia diagnosed in adulthood in an Australian family

Congenital analbuminaemia: molecular defects and biochemical and clinical aspects

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene

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

Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study

Depletion of clusterin in renal diseases causing nephrotic syndrome

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

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

Effects of peritoneal effluents on mesothelial cells in culture: cell proliferation and extracellular matrix regulation

Effects of peritoneal effluents on mesothelial cells m culture: cell proliferation and extracellular matrix regulation

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus

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

Expanding CEP290 mutational spectrum in ciliopathies

Expression of Nuclear Transcription Factor PAX2 in Renal Biopsies of Juvenile Nephronophthisis

Expression of collagen by renal fibroblasts treated with FK 506 in vitro.

Extracellular matrix formation by epithelial cells from human polycystic kidney cysts in culture

Familial forms of nephrotic syndrome.

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

Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Genetic risk factors in typical haemolytic uraemic syndrome

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

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

Genotype–phenotype associations in WT1 glomerulopathy

Glomerular albumin permeability as anin vitromodel for characterizing the mechanism of focal glomerulosclerosis and predicting post-transplant recurrence

Glomerulocystic kidney disease in a family

Glomerulocystic kidney disease in hypomelanosis of Ito

Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria

Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

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

Immature Renal Structures Associated With a Novel UMOD Sequence Variant