List of works - Albane A Bizet

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

scientific article

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.

scientific article

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

scientific article published on 4 May 2011

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

scientific article

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

scientific article

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

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

scientific article

Identification of CD109 as part of the TGF-beta receptor system in human keratinocytes

scientific article

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration.

scientific article

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

scientific article published on 30 January 2017

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

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

article

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

scientific journal article

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

scientific article

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

scientific journal article

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

scientific article published on 17 November 2016

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

scientific article

List of works by Albane A Bizet

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

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.

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

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

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

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

Identification of CD109 as part of the TGF-beta receptor system in human keratinocytes

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration.

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

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

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

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

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

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

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

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