Saunier, Sophie

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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

Ghossoub, R., Hu, Q., Failler, M., Rouyez, M.-C., Spitzbarth, B., Mostowy, S., Wolfrum, U., Saunier, S., Cossart, P., Nelson, W. J., et al. (2013) · Journal of Cell Science

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 128

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

Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 115

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

Mahuzier, A., Gaudé, H.-M., Grampa, V., Anselme, I., Silbermann, F., Leroux-Berger, M., Delacour, D., Ezan, J., Montcouquiol, M., Saunier, S., et al. (2012) · Journal of Cell Biology

Genetic and Kidney Cyst DiseasesWnt/β-catenin signaling in development and cancer

Cited by 79

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

Schou, K. B., Mogensen, J. B., Morthorst, S. K., Nielsen, B. S., Aleliunaite, A., Serra-Marques, A., Fürstenberg, N., Saunier, S., Bizet, A. A., Veland, I. R., et al. (2017) · Nature Communications

Genetic and Kidney Cyst DiseasesHedgehog Signaling Pathway Studies

Cited by 72

Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration

Veland, I. R., Montjean, R., Eley, L., Pedersen, L. B., Schwab, A., Goodship, J., Kristiansen, K., Pedersen, S. F., Saunier, S., & Christensen, S. T. (2013) · PLoS ONE

Genetic and Kidney Cyst DiseasesCellular Mechanics and Interactions

Cited by 67

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

Burcklé, C., Gaudé, H.-M., Vesque, C., Silbermann, F., Salomon, R., Jeanpierre, C., Antignac, C., Saunier, S., & Schneider-Maunoury, S. (2011) · Human Molecular Genetics

Genetic and Kidney Cyst DiseasesRenal and related cancers

Cited by 59

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

Ryan, R., Failler, M., Reilly, M. L., Garfa-Traore, M., Delous, M., Filhol, E., Reboul, T., Bole-Feysot, C., Nitschké, P., Baudouin, V., et al. (2018) · Human Molecular Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 48

Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signaling

Zacharia, N. K., Kuhns, S., Boegholm, N., Christensen, A., Wang, J., Petriman, N. A., Lorentzen, A., Fialova, J. L., Menguy, L., Saunier, S., et al. (2026) · eLife

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 1

Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signaling

Zacharia, N. K., Kuhns, S., Boegholm, N., Christensen, A., Wang, J., Petriman, N. A., Lorentzen, A., Fialova, J. L., Menguy, L., Saunier, S., et al. (2026) · eLife

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 0