Tania Attié-Bitach Selected Research

Polydactyly (Polydactylism)

1/2018	Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
4/2015	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
1/2014	A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
7/2011	Disruption of a ciliary B9 protein complex causes Meckel syndrome.

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Tania Attié-Bitach Research Topics

Disease

12	Ciliopathies 01/2018 - 07/2007
5	Microcephaly 02/2024 - 04/2007
4	Polydactyly (Polydactylism) 01/2018 - 07/2011
3	Cysts 01/2021 - 07/2011
3	Agenesis of Cerebellar Vermis 05/2015 - 01/2012
2	Hydrocephalus (Hydrocephaly) 01/2023 - 01/2020
2	Agenesis of Corpus Callosum 09/2021 - 04/2007
2	Hereditary renal agenesis 01/2018 - 07/2011
2	Obesity 05/2015 - 01/2014
2	Meckel syndrome type 1 04/2015 - 07/2011
2	Intellectual Disability (Idiocy) 01/2014 - 11/2002
2	Polymicrogyria 11/2013 - 04/2007
1	LIG4 Syndrome 02/2024
1	Hypersensitivity (Allergy) 02/2024
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2023
1	Pathologic Constriction (Stenosis) 01/2023
1	Chondrodysplasia Punctata (Stippled Epiphyses) 01/2022
1	Brachytelephalangic Chondrodysplasia Punctata 01/2022
1	NGLY1 deficiency 01/2022
1	Neurodevelopmental Disorders 01/2022
1	Kidney Diseases (Kidney Disease) 01/2021
1	Autosomal Dominant Polycystic Kidney (ADPKD) 01/2021
1	Cystic Kidney Diseases (Cystic Kidney Disease) 01/2021
1	Fibrosis (Cirrhosis) 01/2021
1	Mandibulofacial Dysostosis (Treacher Collins Syndrome) 01/2020
1	Imperforate Anus 01/2018
1	Orofaciodigital Syndromes (Orofaciodigital Syndrome) 01/2016
1	CHARGE Syndrome 10/2014
1	Coloboma (Colobomas) 10/2014
1	Penis agenesis 01/2014
1	Retinal Dystrophies 01/2014
1	Coloboma of optic nerve 01/2014
1	Walker-Warburg Syndrome 12/2012
1	Smith-Lemli-Opitz Syndrome 02/2012
1	Cobblestone Lissencephaly 02/2012
1	Multicystic Dysplastic Kidney (Multicystic Kidney) 07/2011
1	Jeune syndrome 03/2011
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 06/2009
1	Retinal Degeneration 06/2009
1	Acute fatty liver of pregnancy 06/2005
1	Cardiomyopathies (Cardiomyopathy) 06/2005
1	Hydrops Fetalis (Fetal Edema) 06/2005
1	Rhabdomyolysis 06/2005
1	Hypoglycemia (Reactive Hypoglycemia) 06/2005
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 06/2005
1	Hemolysis 06/2005
1	Congenital central hypoventilation syndrome 04/2003
1	Hirschsprung Disease (Hirschsprung's Disease) 06/2002

Drug/Important Bio-Agent (IBA)

20	Proteins (Proteins, Gene)FDA Link 01/2023 - 04/2007
3	Carrier Proteins (Binding Protein)IBA 01/2014 - 06/2002
2	EnzymesIBA 01/2022 - 06/2005
2	GTP Phosphohydrolases (GTPases)IBA 05/2015 - 06/2009
2	protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA 12/2012 - 02/2012
1	A-Form DNA (A-DNA)IBA 02/2024
1	Ligases (Synthetase)IBA 01/2023
1	Transfer RNA (tRNA)IBA 01/2023
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/2023
1	Blood Coagulation Factors (Coagulation Factor)IBA 01/2022
1	Cytidine Diphosphate (CDP)IBA 01/2022
1	OligosaccharidesIBA 01/2022
1	Vitamin K FDA Link 01/2022
1	Nonsense Codon (Nonsense Mutation)IBA 09/2021
1	Heat-Shock Proteins (Heat-Shock Protein)IBA 01/2021
1	UromodulinIBA 01/2021
1	p21-Activated KinasesIBA 01/2020
1	U5 Small Nuclear RibonucleoproteinIBA 01/2020
1	Monomeric GTP-Binding ProteinsIBA 01/2018
1	Retinaldehyde (Retinal)IBA 05/2015
1	Membrane Proteins (Integral Membrane Proteins)IBA 04/2015
1	ChromatinIBA 10/2014
1	Adenosine Triphosphate (ATP)IBA 10/2014
1	prenylIBA 01/2014
1	Oxidoreductases (Dehydrogenase)IBA 02/2012
1	TubulinIBA 01/2012
1	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 07/2011
1	Transcription Factors (Transcription Factor)IBA 04/2007
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2005
1	Mitochondrial Trifunctional ProteinIBA 06/2005
1	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 06/2005
1	3-Hydroxyacyl-CoA DehydrogenaseIBA 06/2005
1	polyalanineIBA 04/2003
1	Serine Proteases (Serine Protease)IBA 11/2002
1	neurotrypsinIBA 11/2002

Therapy/Procedure

1	Therapeutics 09/2012