Présentation
Andrea ZANETTI
L'équipe "Génétique Ophtalmologique" est composée de 3 groupes :
- Dystrophies rétiniennes sévères et précoces : décryptage génétique et thérapie
- Neuropathies optiques monosymptomatiques et syndromiques
- Développement oculaire
Ressources & publications
-
2019Journal (source)Am. J. Hum. Genet.TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
-
2019Journal (source)Biol. Cell
Cilia in hereditary cerebral anomalies.
-
2019Journal (source)Biol. Cell
Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and ...
-
2019Journal (source)Hum. Mol. Genet.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney deve...
-
2017Journal (source)Am. J. Hum. Genet.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop...
-
2015Journal (source)Cilia
The more we know, the more we have to discover: an exciting future for unders...
-
2019Journal (source)Biol Cell
Cilia in hereditary cerebral anomalies.
-
2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
-
2023Journal (source)Front Mol Biosci
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu...
-
2023Journal (source)Sci Data
Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne...
-
2023Journal (source)Kidney Int
Repurposing small molecules for nephronophthisis and related renal ciliopathies.
-
Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...