List of works - Olivier Gribouval

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

scientific article published on 16 May 2018

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

scientific article

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

scientific article

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

scientific article

APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair

scientific article published on 8 February 2014

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

Absence of cell surface expression of human ACE leads to perinatal death

scientific article published on 24 October 2013

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

scientific article

Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain

scientific article

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome

scientific article published in June 2005

CAN WE LIVE WITHOUT A FUNCTIONAL RENIN-ANGIOTENSIN SYSTEM?

scientific article published on 01 April 2008

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

scientific article

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

article

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

scientific article published on 03 September 2019

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.

scientific article published on December 2002

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

scientific article

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

scientific article

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

scientific article

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

scientific article published on 01 September 2004

Inherited renal tubular dysgenesis may not be universally fatal

scientific article published on 6 July 2010

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

article by Andrea Zingg-Schenk et al published 19 April 2007 in European Journal of Pediatrics

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

scientific article

LMX1B mutations cause hereditary FSGS without extrarenal involvement

scientific article published on 16 May 2013

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

scientific article

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

scientific article published on 29 October 2010

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

scientific article published on 10 August 2017

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

scientific article

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

article published in 2014

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

article

Mutations des gènes du système rénine-angiotensine et dysgénésie tubulaire rénale

article

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

scientific article published on 21 January 2011

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

scientific article

Mutations in renin-angiotensin system genes and kidney developmental anomalies

scientific article published in January 2009

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

scientific article

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

scientific article published on 09 December 2013

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

scientific article published on 9 July 2008

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

scientific article published on January 2004

Podocin localizes in the kidney to the slit diaphragm area

scientific article

Presymptomatic diagnosis of familial steroid-resistant riephrotic syndrome

scientific article published in The Lancet

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

scientific article

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

scientific article

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

scientific article

The kidney as a reservoir for HIV-1 after renal transplantation

scientific article published on 05 December 2013

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

scientific article

List of works by Olivier Gribouval

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Absence of cell surface expression of human ACE leads to perinatal death

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome

CAN WE LIVE WITHOUT A FUNCTIONAL RENIN-ANGIOTENSIN SYSTEM?

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

Inherited renal tubular dysgenesis may not be universally fatal

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

LMX1B mutations cause hereditary FSGS without extrarenal involvement

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Mutations des gènes du système rénine-angiotensine et dysgénésie tubulaire rénale

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Mutations in renin-angiotensin system genes and kidney developmental anomalies

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

Podocin localizes in the kidney to the slit diaphragm area

Presymptomatic diagnosis of familial steroid-resistant riephrotic syndrome

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

The kidney as a reservoir for HIV-1 after renal transplantation

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.