Emilie Filhol Selected Research

Mainzer-Saldino Disease

1/2018	Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
11/2013	Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

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Emilie Filhol Research Topics

Disease

4	Ciliopathies 10/2015 - 11/2013
2	Mainzer-Saldino Disease 01/2018 - 11/2013
2	Jeune syndrome 01/2018 - 11/2013
1	Ciliary Motility Disorders (Primary Ciliary Dyskinesia) 01/2018
1	Infections 01/2018
1	Sclerosing Cholangitis 10/2016
1	Retinal Degeneration 10/2015
1	Orofaciodigital Syndromes (Orofaciodigital Syndrome) 06/2014
1	Retinal Dystrophies 01/2014
1	Coloboma of optic nerve 01/2014
1	Agenesis of Cerebellar Vermis 01/2014
1	Penis agenesis 01/2014
1	Intellectual Disability (Idiocy) 01/2014
1	Obesity 01/2014
1	Polydactyly (Polydactylism) 01/2014

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 10/2015 - 11/2013
1	Retinaldehyde (Retinal)IBA 01/2018
1	tektinsIBA 01/2018
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 10/2015
1	alpha,beta-diacryloxypropionic acid (DAPS)IBA 06/2014
1	Carrier Proteins (Binding Protein)IBA 01/2014
1	prenylIBA 01/2014

Therapy/Procedure

1	Liver Transplantation 10/2016