A. Bizet

发表

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

CD109‐mediated degradation of TGF‐β receptors and inhibition of TGF‐β responses involve regulation of SMAD7 and Smurf2 localization and function

A. Philip, M. Buschmann, N. Tran-Khanh, 2012, Journal of cellular biochemistry.

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

A. Philip, M. Buschmann, N. Tran-Khanh, 2011, Biochimica et biophysica acta.

Supplemental Data Mutations in MAPKBP 1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Helge, Filhol, Sailer, 2017 .

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Steven J. M. Jones, I. Krantz, M. Brown, 2013, American journal of human genetics.

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

P. Lepage, A. Philip, A. Bizet, 2006, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

CD109 release from the cell surface in human keratinocytes regulates TGF‐β receptor expression, TGF‐β signalling and STAT3 activation: relevance to psoriasis

D. Sasseville, A. Philip, I. Litvinov, 2011, Experimental dermatology.

Importance of CD109 and Transforming Growth Factor-β Signaling in Psoriasis

D. Sasseville, A. Philip, I. Litvinov, 2010 .

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

M. Hurles, P. Scambler, T. Neuhann, 2013, Human mutation.

Overexpression of CD109 in the Epidermis Differentially Regulates ALK1 Versus ALK5 Signaling and Modulates Extracellular Matrix Synthesis in the Skin.

A. Philip, Y. Seo, S. Tran, 2017, The Journal of investigative dermatology.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

G. Mollet, O. Gribouval, F. Silbermann, 2014, Journal of the American Society of Nephrology : JASN.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

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

S. Saunier, A. Akhmanova, S. Christensen, 2017, Nature Communications.

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

S. Saunier, C. Bole-Feysot, P. Nitschké, 2016, Human mutation.

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

J. Szustakowski, J. Sahel, T. Bouwmeester, 2015, Nature Communications.

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A. Munnich, S. Hanein, C. Antignac, 2012, Cilia.

CD109 release from the cell surface in human keratinocytes regulates TGF‐β receptor expression, TGF‐β signalling and STAT3 activation: relevance to psoriasis

D. Sasseville, A. Philip, I. Litvinov, 2011, Experimental dermatology.

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

A. Philip, M. Buschmann, J. Vorstenbosch, 2011, Biochimica et biophysica acta.