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The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
- Thauvin-Robinet, Christel;
- Lee, Jaclyn S;
- Lopez, Estelle;
- Herranz-Pérez, Vicente;
- Shida, Toshinobu;
- Franco, Brunella;
- Jego, Laurence;
- Ye, Fan;
- Pasquier, Laurent;
- Loget, Philippe;
- Gigot, Nadège;
- Aral, Bernard;
- Lopes, Carla AM;
- St-Onge, Judith;
- Bruel, Ange-Line;
- Thevenon, Julien;
- González-Granero, Susana;
- Alby, Caroline;
- Munnich, Arnold;
- Vekemans, Michel;
- Huet, Frédéric;
- Fry, Andrew M;
- Saunier, Sophie;
- Rivière, Jean-Baptiste;
- Attié-Bitach, Tania;
- Garcia-Verdugo, Jose Manuel;
- Faivre, Laurence;
- Mégarbané, André;
- Nachury, Maxence V
Published Web Location
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120243/No data is associated with this publication.
Abstract
Maxence Nachury, Christel Thauvin-Robinet and colleagues identify mutations in C2CD3 in two families with oral-facial-digital syndrome. They further show that C2CD3 localizes to the distal end of centrioles and acts as a positive regulator of centriole elongation.
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