Anne-Marie Jouanolle Selected Research

Iron Overload

3/2016	Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
2/2015	Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
5/2012	[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].
12/2011	A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.
12/2011	Iron disorders of genetic origin: a changing world.
4/2011	Sex and acquired cofactors determine phenotypes of ferroportin disease.
9/2009	Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload?
5/2009	A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.
3/2009	A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
9/2007	[Pathophysiology and genetics of classic HFE (type 1) hemochromatosis].

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Anne-Marie Jouanolle Research Topics

Disease

14	Iron Overload 03/2016 - 06/2002
14	Hemochromatosis (Bronze Diabetes) 03/2016 - 07/2002
4	Fibrosis (Cirrhosis) 03/2015 - 12/2006
3	type 2 Hemochromatosis 04/2014 - 01/2004
2	type 3 Hemochromatosis 04/2014 - 07/2008
2	Autosomal Dominant Iron Overload 11/2013 - 08/2003
2	Hyperferritinemia 03/2009 - 04/2007
2	hereditary Hyperferritinemia with congenital cataracts 03/2009 - 01/2004
2	type 4 Hemochromatosis 07/2008 - 01/2004
2	Inborn Genetic Diseases (Disease, Hereditary) 11/2005 - 01/2004
1	Neoplasms (Cancer) 03/2015
1	Liver Diseases (Liver Disease) 03/2015
1	Anemia 12/2011
1	Iron-Refractory Iron Deficiency Anemia 12/2011
1	Inflammation (Inflammations) 03/2009
1	Cataract (Cataracts) 03/2009
1	Chronic Hepatitis C 04/2007
1	Infections 04/2007
1	Hemorrhage 11/2005
1	X-linked sideroblastic anemia 01/2004
1	Congenital atransferrinemia 01/2004
1	Finnish lethal neonatal metabolic syndrome 01/2004
1	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease) 01/2004
1	Friedreich Ataxia (Friedreich's Ataxia) 01/2004
1	Chronic Disease (Chronic Diseases) 06/2002

Drug/Important Bio-Agent (IBA)

19	IronIBA 03/2016 - 06/2002
8	Transferrin (beta 2 Transferrin)IBA 02/2015 - 06/2002
6	HepcidinsIBA 03/2016 - 09/2007
6	Ferritins (Ferritin)IBA 03/2016 - 07/2002
6	Transferrin Receptors (Transferrin Receptor)IBA 04/2014 - 01/2004
5	metal transporting protein 1 (ferroportin)IBA 04/2014 - 08/2003
5	Familial apoceruloplasmin deficiencyIBA 09/2009 - 06/2002
3	Proteins (Proteins, Gene)FDA Link 12/2011 - 08/2003
2	ApoferritinsIBA 03/2009 - 01/2004
1	Peptides (Polypeptides)IBA 03/2016
1	matriptase 2IBA 12/2011
1	Alanine Transaminase (SGPT)IBA 04/2011
1	CopperIBA 09/2009
1	glycosylated ferritinIBA 03/2009
1	Messenger RNA (mRNA)IBA 03/2009
1	5' Untranslated Regions (5' UTR)IBA 03/2009
1	ElementsIBA 03/2009
1	Biomarkers (Surrogate Marker)IBA 04/2007
1	pantothenate kinaseIBA 01/2004
1	Ligases (Synthetase)IBA 01/2004
1	NucleotidesIBA 01/2004
1	FrataxinIBA 01/2004
1	Ceruloplasmin (Ferroxidase)IBA 06/2002

Therapy/Procedure

1	Therapeutics 08/2003
1	Subcutaneous Infusions 06/2002