Publications scientifiques
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2023Journal (source)Front Mol Biosci
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu...
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2023Journal (source)Kidney Int
Repurposing small molecules for nephronophthisis and related renal ciliopathies.
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E receptors as potential first in class treatment f...
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2021Journal (source)Sci Rep
Disruption of pathways regulated by Integrator complex in Galloway-Mowat synd...
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2019Journal (source)Biol. Cell
Cilia in hereditary cerebral anomalies.
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2019Journal (source)Hum. Mol. Genet.
Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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2019Journal (source)Biol. Cell
Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and ...
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2019Journal (source)Am. J. Hum. Genet.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
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2018Journal (source)Hum. Mol. Genet.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney deve...
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2017Journal (source)Hum. Mol. Genet.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop...
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2016Journal (source)PLoS Genet.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA...
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2015Journal (source)Nat Commun
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...
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2015Journal (source)Cilia
The more we know, the more we have to discover: an exciting future for unders...
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2015Journal (source)Traffic
Lysosomal Targeting of Cystinosin Requires AP-3.