Albane A. Bizet

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Jan Halbritter, Albane A. Bizet, Miriam Schmidts et al. · The American Journal of Human Genetics · 2013 · 225 citations · Full text

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 214 citations · Full text

Mainzer-saldino Syndrome, Mendelian Disorder, Genetic Disorder +5

Identification of CD109 as part of the TGF‐β receptor system in human keratinocytes

Kenneth W. Finnson, Betty Y. Tam, Kai Liu et al. · The FASEB Journal · 2006 · 140 citations

Tgf‐β Receptor System, Immune Regulation, Immunology +18

Combined <scp>NGS</scp> Approaches Identify Mutations in the Intraflagellar Transport Gene <i>IFT140</i> in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger et al. · Human Mutation · 2013 · 137 citations · Full text

Skeletal Ciliopathies, Genetics, Pathology +17

The TGF-β co-receptor, CD109, promotes internalization and degradation of TGF-β receptors

Albane A. Bizet, Kai Liu, Nicolas Tran‐Khanh et al. · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · 2011 · 133 citations

Signal Transduction, Signaling Pathway, Immune Regulation +8