Christine Bole-Feysot Selected Research

Jeune syndrome

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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Christine Bole-Feysot Research Topics

Disease

6	Intellectual Disability (Idiocy) 01/2018 - 12/2009
4	Microcephaly 11/2021 - 12/2009
4	Body Weight (Weight, Body) 05/2015 - 04/2008
3	Ciliopathies 11/2013 - 06/2011
2	Thyroid Dysgenesis (Thyroid Agenesis) 12/2018 - 01/2018
2	Congenital Hypothyroidism (Cretinism) 12/2018 - 01/2018
2	Mainzer-Saldino Disease 01/2018 - 11/2013
2	Neurodevelopmental Disorders 01/2018 - 05/2015
2	Jeune syndrome 01/2018 - 11/2013
2	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2018 - 12/2013
2	Iron Overload 01/2018 - 10/2017
2	Muscle Hypotonia (Hypotonia) 04/2016 - 05/2015
2	Feeding and Eating Disorders (Eating Disorder) 03/2015 - 04/2008
2	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 04/2013 - 07/2006
2	Inflammation (Inflammations) 04/2013 - 01/2012
2	Leiomyoma (Uterine Fibroids) 12/2006 - 01/2005
1	Seizures (Absence Seizure) 11/2021
1	Myocarditis (Carditis) 10/2021
1	COVID-19 related pediatric multisystem inflammatory disease 10/2021
1	Pontocerebellar Hypoplasia 11/2020
1	Goiter 11/2020
1	Sepsis (Septicemia) 01/2020
1	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 01/2020
1	Lymphopenia (Lymphocytopenia) 01/2020
1	Leukemia 01/2020
1	Meningioma (Meningiomas) 01/2020
1	Proteinuria 01/2020
1	Albuminuria 01/2020
1	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris) 01/2019
1	Myofibromatosis 01/2019
1	Subcutaneous panniculitis-like T-cell lymphoma 12/2018
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 12/2018
1	Non-Hodgkin Lymphoma (Lymphosarcoma) 12/2018
1	Cataract (Cataracts) 01/2018
1	Neurodegeneration with brain iron accumulation (NBIA) 01/2018
1	Autism Spectrum Disorder 01/2018
1	Atrophy 01/2018
1	Ciliary Motility Disorders (Primary Ciliary Dyskinesia) 01/2018
1	Dystonia (Limb Dystonia) 01/2018
1	Epilepsy (Aura) 01/2018
1	Infections 01/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Cakut 11/2017
1	Breast Neoplasms (Breast Cancer) 11/2017
1	Burkitt Lymphoma (Burkitt's Lymphoma) 10/2017
1	Brain Diseases (Brain Disorder) 08/2017
1	Brachydactyly 04/2017
1	Craniofacial Abnormalities 04/2017
1	Retinal Degeneration 04/2017
1	Facioscapulohumeral Muscular Dystrophy 02/2017
1	Prostatic Neoplasms (Prostate Cancer) 01/2017
1	Sclerosing Cholangitis 10/2016

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 01/2019 - 12/2006
7	AutoantibodiesIBA 06/2015 - 04/2008
3	Immunoglobulin G (IgG)IBA 06/2015 - 10/2010
3	Peptides (Polypeptides)IBA 01/2012 - 04/2008
2	Retinaldehyde (Retinal)IBA 11/2021 - 01/2018
2	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 10/2021 - 07/2006
2	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020 - 01/2011
2	AntigensIBA 01/2020 - 04/2008
2	Immunoglobulins (Immunoglobulin)IBA 12/2018 - 09/2012
2	IronIBA 01/2018 - 10/2017
2	Fibrillin-1IBA 01/2016 - 07/2011
2	Carrier Proteins (Binding Protein)IBA 01/2016 - 12/2009
2	Immunoglobulin M (IgM)IBA 06/2015 - 10/2010
2	Melanocyte-Stimulating Hormones (MSH)IBA 01/2012 - 12/2011
1	ChemokinesIBA 10/2021
1	CytokinesIBA 10/2021
1	Chelating AgentsIBA 11/2020
1	Phytic Acid (Inositol Hexaphosphate)IBA 11/2020
1	Thyroxine (Levothyroxine)FDA LinkGeneric 11/2020
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2020
1	VitaminsIBA 01/2020
1	PerforinIBA 01/2020
1	Factor VII (Proconvertin)IBA 01/2020
1	intrinsic factor-cobalamin receptorIBA 01/2020
1	InterferonsIBA 01/2020
1	LigandsIBA 01/2020
1	AlbuminsIBA 01/2020
1	Pharmaceutical PreparationsIBA 01/2020
1	theasinensin AIBA 01/2020
1	Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA 01/2019
1	Mucin-3IBA 12/2018
1	TubulinIBA 12/2018
1	tektinsIBA 01/2018
1	adducinIBA 01/2018
1	Lysine AcetyltransferasesIBA 01/2018
1	Hormones (Hormone)IBA 01/2018
1	Iodide Peroxidase (Deiodinase)IBA 01/2018
1	Transferrin Receptors (Transferrin Receptor)IBA 01/2018
1	Calcium Channels (Calcium Channel)IBA 01/2018
1	MicroRNAs (MicroRNA)IBA 01/2018
1	Mediator ComplexIBA 01/2018
1	Estrogens (Estrogen)FDA Link 11/2017
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 11/2017
1	Oxidoreductases (Dehydrogenase)IBA 08/2017
1	AndrogensIBA 01/2017

Therapy/Procedure

2	Injections 11/2020 - 01/2012
2	Therapeutics 02/2017 - 04/2013
1	Castration 01/2017