Publications and ressources

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Corinne Antignac, Matias Simons, Patrick Nitschké, Christine Bole

Source : J. Clin. Invest.

2019 Dec 3

Pmid : 31613795

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Sophie Saunier, Stanislas Lyonnet, Nicolas Garcelon

Source : J Biomed Inform

2019 Nov 28

Pmid : 31622800

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Corinne Antignac

Source : Am. J. Hum. Genet.

2019 Nov 19

Pmid : 30661770

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Sophie Saunier, Valérie Cormier-Daire, Cécile Jeanpierre, Meriem Garfa-Traoré , Patrick Nitschké

Source : Hum. Mol. Genet.

2019 Oct 27

Pmid : 31042281

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Alexandre Benmerah

Source : Hum. Mol. Genet.

2019 Oct 27

Pmid : 30388224

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

Géraldine Mollet

Source : Nat Commun

2019 Sep 6

Pmid : 31481669

Cilia in hereditary cerebral anomalies.

Alexandre Benmerah

Source : Biol. Cell

2019 Sep 3

Pmid : 31177551

Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mechanistic targets for (R)-roscovitine and (S)-CR8.

Sophie Saunier

Source : Am. J. Physiol. Renal Physiol.

2019 Jul 15

Pmid : 29537311

Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling.

Alexandre Benmerah

Source : Biol. Cell

2019 Jul 11

Pmid : 30720881

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Cécile Jeanpierre

Source : Nat. Genet.

2019 Apr 24

Pmid : 30578417

Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

Sophie Saunier

Source : EMBO J.

2019 Jan 31

Pmid : 29650680

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Géraldine Mollet

Source : J. Biol. Chem.

2019 Jan 11

Pmid : 29382718

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Sophie Saunier

Source : Hum. Mol. Genet.

2019 Jan 3

Pmid : 29121203

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

Sophie Saunier

Source : Nat Commun

2018 Nov 20

Pmid : 28134340

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

Sophie Saunier

Source : Hum. Mol. Genet.

2018 May 24

Pmid : 28973549