Claude Férec Selected Research

Inborn Genetic Diseases (Disease, Hereditary)

6/2022	3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2.
6/2021	[Cystic fibrosis: From gene discovery to precision medicine].
1/2020	The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.
12/2019	Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.
4/2016	Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements.
6/2015	Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.
1/2008	Detection of two Alu insertions in the CFTR gene.
2/2007	A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
1/2007	Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants.
1/2006	LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.

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Claude Férec Research Topics

Disease

34	Chronic Pancreatitis 10/2021 - 02/2002
21	Cystic Fibrosis (Mucoviscidosis) 01/2022 - 09/2003
16	Pancreatitis 08/2022 - 05/2003
14	Inborn Genetic Diseases (Disease, Hereditary) 06/2022 - 04/2004
11	Hemochromatosis (Bronze Diabetes) 01/2021 - 12/2004
7	Neoplasms (Cancer) 10/2019 - 08/2008
6	Iron Overload 01/2021 - 07/2008
5	Hereditary pancreatitis 06/2008 - 01/2004
3	type 4 Hemochromatosis 01/2021 - 10/2013
3	Exocrine Pancreatic Insufficiency 01/2021 - 12/2017
3	Fibrosis (Cirrhosis) 01/2020 - 10/2008
2	Autistic Disorder (Autism) 01/2021 - 01/2019
2	Pancreatic Neoplasms (Pancreatic Cancer) 10/2019 - 07/2013
2	Lung Diseases (Lung Disease) 01/2015 - 03/2004
2	Osteoporosis 11/2010 - 03/2010
1	Chronic Obstructive Pulmonary Disease (COPD) 01/2022
1	Neurodevelopmental Disorders 01/2021
1	Hypertriglyceridemia 01/2020
1	Hearing Loss (Hearing Impairment) 12/2019
1	Infections 01/2019
1	Ischemia 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Hyperferritinemia 11/2018
1	Cysts 07/2018
1	Transfusion Reaction 01/2018
1	type 1 Microcephalic osteodysplastic primordial dwarfism 01/2018
1	Autosomal Dominant Polycystic Kidney (ADPKD) 01/2018
1	Pancreatic Diseases (Pancreatic Disease) 01/2017
1	Lung Neoplasms (Lung Cancer) 03/2016
1	Neoplasm Metastasis (Metastasis) 03/2016
1	Non-Small-Cell Lung Carcinoma (Carcinoma, Non-Small Cell Lung) 03/2016
1	Melanoma (Melanoma, Malignant) 11/2015
1	Polycystic Kidney Diseases (Polycystic Kidney Disease) 12/2014
1	Inflammation (Inflammations) 01/2014
1	Li-Fraumeni Syndrome 12/2013
1	Genetic Predisposition to Disease (Genetic Predisposition) 12/2013

Drug/Important Bio-Agent (IBA)

19	Kazal Pancreatic Trypsin InhibitorIBA 10/2021 - 02/2002
13	TrypsinogenIBA 08/2022 - 02/2002
10	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 11/2021 - 02/2002
10	IronIBA 12/2019 - 12/2004
8	TrypsinIBA 01/2019 - 01/2004
7	Proteins (Proteins, Gene)FDA Link 08/2022 - 03/2004
7	ChromatinIBA 06/2022 - 01/2011
6	metal transporting protein 1 (ferroportin)IBA 01/2021 - 11/2005
4	Lipase (Acid Lipase)FDA Link 04/2020 - 05/2015
4	Biomarkers (Surrogate Marker)IBA 01/2019 - 01/2015
4	DNA (Deoxyribonucleic Acid)IBA 06/2015 - 02/2005
3	EnzymesIBA 01/2022 - 01/2020
3	Chloride Channels (Chloride Channel)IBA 01/2022 - 10/2008
3	ChloridesIBA 01/2017 - 09/2003
3	Biological ProductsIBA 11/2010 - 12/2007
3	HepcidinsIBA 11/2009 - 11/2005
2	CeruletideIBA 01/2022 - 01/2020
2	Calcium-Sensing ReceptorsIBA 10/2021 - 10/2020
2	NucleotidesIBA 01/2021 - 01/2018
2	CalciumIBA 10/2020 - 01/2020
2	EstersIBA 04/2020 - 01/2016
2	CarbonIBA 12/2019 - 07/2018
2	Peptide Hydrolases (Proteases)FDA Link 01/2019 - 05/2015
2	Transferrin (beta 2 Transferrin)IBA 11/2018 - 01/2013
2	Protein Isoforms (Isoforms)IBA 10/2018 - 01/2004
2	Carboxypeptidases A (Carboxypeptidase A)IBA 01/2017 - 10/2013
2	chymotrypsinogen CIBA 01/2013 - 02/2008
2	Glycoproteins (Glycoprotein)IBA 04/2010 - 03/2010
2	Annexin A5IBA 10/2008 - 10/2007
2	Nonsense Codon (Nonsense Mutation)IBA 02/2008 - 05/2003
2	ElementsIBA 01/2008 - 04/2004
2	EndonucleasesIBA 01/2006 - 09/2005
1	AmidesIBA 01/2022
1	PF-429242IBA 01/2022
1	InflammasomesIBA 10/2020
1	Lipoprotein Lipase (Diacylglycerol Lipase)IBA 01/2020
1	Calcium Channels (Calcium Channel)IBA 01/2020
1	RNA Splice SitesIBA 01/2020
1	Triglycerides (Triacylglycerol)IBA 01/2020
1	ConnexinsIBA 12/2019
1	Lactoylglutathione LyaseIBA 01/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	Blood Group Antigens (Blood Groups)IBA 01/2018
1	RNA (Ribonucleic Acid)IBA 01/2018
1	Ubiquitin CIBA 01/2017
1	Divalent CationsIBA 01/2017
1	Buserelin (Suprefact)IBA 01/2017
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2017
1	Protein Kinases (Protein Kinase)IBA 01/2017
1	Tyrosine Kinase InhibitorsIBA 03/2016
1	ParaffinIBA 11/2015
1	Formaldehyde (Formol)FDA Link 11/2015
1	Dietary IronIBA 07/2015
1	Protease Inhibitors (Protease Inhibitor)IBA 05/2015
1	ivacaftorIBA 01/2015
1	polycystic kidney disease 2 proteinIBA 12/2014
1	LipidsIBA 09/2014
1	Carrier Proteins (Binding Protein)IBA 09/2014
1	Cyclic AMP (AMP, Cyclic)IBA 01/2014
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 01/2014
1	MutagensIBA 08/2013

Therapy/Procedure

3	Precision Medicine 06/2021 - 11/2010
3	Therapeutics 03/2016 - 11/2010
1	Injections 01/2022