List of works - Sophie Saunier

A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q

article

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

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

scientific article

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

scientific article published on 11 September 2017

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects.

scientific article

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

scientific article published on 23 June 2013

Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies

scientific article published on 28 April 2022

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.

scientific article

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

scientific journal article

Ciliome resequencing: A lifeline for molecular diagnosis in LCA.

scientific article published on 13 July 2015

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

scientific article

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

scientific article

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

scientific article published on 15 April 2011

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

scientific journal article

Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity.

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL

scientific article published on October 2015

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

scientific article

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

scientific article

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

scientific article

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration.

scientific article

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

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

scientific article

Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration

scientific article

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling

scientific article published on 30 January 2017

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

article

Matrix metalloproteinase 13 (MMP13) and tissue inhibitor of matrix metalloproteinase 1 (TIMP1), regulated by the MAPK pathway, are both necessary for Madin-Darby canine kidney tubulogenesis

scientific article published on 26 November 2007

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

scientific article

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

scientific article

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

scientific article

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

scientific journal article

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

scientific journal article

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

scientific article

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

scientific article published on 13 July 2015

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

article

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

scientific journal article

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals

scientific article

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases.

scientific article published on 16 November 2012

Nephronophthisis

scientific article published on 01 June 2005

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

scientific article

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

scientific article

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

scientific article published on 21 December 2016

Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length

scientific journal article

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis

scientific article (publication date: May 2005)

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

scientific article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

scientific article published on 31 May 2017

Targeting of beta-arrestin2 to the centrosome and primary cilium: role in cell proliferation control

scientific journal article

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

scientific article

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

scientific article

The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

scientific journal article

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

scientific article

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

scientific article

List of works by Sophie Saunier

A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

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

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

Ciliome resequencing: A lifeline for molecular diagnosis in LCA.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration.

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

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

Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Matrix metalloproteinase 13 (MMP13) and tissue inhibitor of matrix metalloproteinase 1 (TIMP1), regulated by the MAPK pathway, are both necessary for Madin-Darby canine kidney tubulogenesis

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases.

Nephronophthisis

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis

TCTN3 mutations cause Mohr-Majewski syndrome

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Targeting of beta-arrestin2 to the centrosome and primary cilium: role in cell proliferation control

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

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

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation