Publications by authors named "Catherine Faucon"

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Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.
Michella Khoury Damaa, Jacques Serizay, Rémi Balagué, Amélie-Rose Boudjema, Marion Faucourt, Catherine Faucon

Cell Rep· January 2025

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Skewed X-chromosome inactivation drives the proportion of -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Lucie Thomas, Laurence Cuisset, Jean-Francois Papon, Aline Tamalet, Isabelle Pin, Catherine Faucon

J Med Genet· May 2024

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Catherine Faucon

Science· April 2024

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Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Sylvain Blanchon, Marie Legendre, Mathieu Bottier, Aline Tamalet, Guy Montantin, Catherine Faucon

J Med Genet· April 2020

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TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Lucie Thomas, Khaled Bouhouche, Marjorie Whitfield, Guillaume Thouvenin, Andre Coste, Catherine Faucon

Am J Hum Genet· February 2020

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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Catherine Faucon

Am J Hum Genet· July 2019

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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Elma El Khouri, Lucie Thomas, Ludovic Jeanson, Emilie Bequignon, Benoit Vallette, Catherine Faucon

Am J Hum Genet· August 2016

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