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Carole Beaumont Selected Research

hereditary Hyperferritinemia with congenital cataracts

3/2009A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
2/2006Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
9/2003Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

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Carole Beaumont Research Topics

Disease

19Anemia
01/2017 - 10/2002
14Iron Overload
01/2017 - 10/2002
13Inflammation (Inflammations)
12/2017 - 10/2002
12Iron Deficiencies
06/2013 - 04/2002
8Hemochromatosis (Bronze Diabetes)
03/2016 - 04/2002
6Hypochromic Anemia (Chlorosis)
06/2013 - 04/2002
4Iron-Refractory Iron Deficiency Anemia
11/2014 - 05/2009
4Erythropoietic Protoporphyria
04/2014 - 01/2006
4Hyperferritinemia
03/2012 - 09/2003
3Critical Illness (Critically Ill)
07/2012 - 06/2010
3Neoplasms (Cancer)
07/2012 - 03/2004
3Fibrosis (Cirrhosis)
05/2012 - 05/2003
3Cataract (Cataracts)
05/2012 - 09/2003
3Hypoxia (Hypoxemia)
12/2010 - 10/2002
3hereditary Hyperferritinemia with congenital cataracts
03/2009 - 09/2003
3Iron-Deficiency Anemia (Anemia, Iron Deficiency)
09/2008 - 04/2002
2Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
01/2017 - 08/2011
2Hemolysis
01/2017 - 10/2002
2Porphyrias (Porphyria)
08/2011 - 09/2008
2X-linked sideroblastic anemia
06/2011 - 09/2008
2Sideroblastic Anemia
06/2011 - 06/2011
2Retinal Degeneration
03/2011 - 02/2002
2Parkinson Disease (Parkinson's Disease)
09/2003 - 10/2002
1Reperfusion Injury
12/2017
1Ischemia
12/2017
1Hematologic Diseases (Blood Diseases)
01/2017
1Hemolytic Anemia
01/2017
1Urinary Tract Infections (Urinary Tract Infection)
03/2016
1Malaria
11/2015
1Infections
11/2015
1Cerebral Malaria
11/2015
1hypochromic microcytic Anemia
11/2014
1Sepsis (Septicemia)
07/2012
1Chronic Renal Insufficiency
07/2012
1Fatty Liver
05/2012
1Anorexia Nervosa
03/2012
1Malnutrition (Nutritional Deficiencies)
03/2012
1Fatigue
11/2011
1Liver Failure
10/2011
1Digestive System Diseases
10/2011
1Cholestasis
10/2011
1Sclerosing Cholangitis
10/2011
1Starvation
01/2011
1Paralysis (Palsy)
01/2011
1Chronic Disease (Chronic Diseases)
12/2010
1Leukemia
04/2010

Drug/Important Bio-Agent (IBA)

38IronIBA
12/2017 - 02/2002
19HepcidinsIBA
01/2017 - 04/2002
8Ferritins (Ferritin)IBA
03/2016 - 10/2002
6Messenger RNA (mRNA)IBA
01/2017 - 05/2002
6Proteins (Proteins, Gene)FDA Link
03/2011 - 02/2006
5Transferrin (beta 2 Transferrin)IBA
11/2014 - 01/2007
5Heme (Haem)IBA
08/2011 - 01/2006
4Ferrochelatase (Heme Synthetase)IBA
04/2014 - 01/2006
4matriptase 2IBA
06/2013 - 05/2009
4metal transporting protein 1 (ferroportin)IBA
05/2012 - 09/2003
4EnzymesIBA
08/2011 - 01/2007
3phenylhydrazine (phenylhydrazine hydrochloride)IBA
11/2015 - 10/2002
3Nonsense Codon (Nonsense Mutation)IBA
11/2014 - 09/2008
3ZymosanIBA
07/2012 - 08/2008
3protoporphyrin IXIBA
10/2011 - 01/2007
3Transferrin Receptors (Transferrin Receptor)IBA
01/2011 - 03/2004
3ElementsIBA
03/2009 - 09/2003
3ApoferritinsIBA
03/2009 - 09/2003
2Hemoglobins (Hemoglobin)IBA
01/2017 - 06/2010
2Peptides (Polypeptides)IBA
03/2016 - 10/2002
2Hemochromatosis ProteinIBA
12/2013 - 02/2007
25-Aminolevulinate SynthetaseIBA
08/2011 - 06/2011
2DNA (Deoxyribonucleic Acid)IBA
06/2011 - 02/2006
2ErythropoietinFDA Link
12/2010 - 08/2008
2Reactive Oxygen Species (Oxygen Radicals)IBA
04/2010 - 03/2009
2Amino AcidsFDA Link
09/2009 - 09/2003
25' Untranslated Regions (5' UTR)IBA
03/2009 - 02/2006
2Interleukin-6 (Interleukin 6)IBA
08/2008 - 11/2005
2Sirolimus (Rapamycin)FDA Link
05/2007 - 11/2005
2Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
11/2005 - 11/2004
1HemopexinIBA
01/2017
1Heme Oxygenase-1IBA
01/2017
1HaptoglobinsIBA
01/2017
1L-Lactate Dehydrogenase (Lactate Dehydrogenase)IBA
01/2017
1pantetheinase (pantetheine hydrolase)IBA
11/2015
1Hormones (Hormone)IBA
11/2014
1Antisense OligonucleotidesIBA
04/2014
1ferric carboxymaltoseIBA
07/2012
1CytokinesIBA
03/2012
1ferric citrate iron reductase (ferric-chelate reductase)IBA
12/2011
1Bile Acids and Salts (Bile Acids)IBA
10/2011
1Indicators and Reagents (Reagents)IBA
10/2011
1Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
08/2011
1Iron Regulatory Protein 2IBA
01/2011
1Bone Morphogenetic Protein 4IBA
12/2010
1ImmunosorbentsIBA
12/2010
1Mitogen-Activated Protein KinasesIBA
04/2010
1Iron Chelating AgentsIBA
04/2010

Therapy/Procedure

3Therapeutics
04/2014 - 04/2010
3Injections
06/2013 - 08/2008
3Critical Care (Surgical Intensive Care)
07/2012 - 08/2008
1Intraperitoneal Injections
07/2012
1Blood Transfusion (Blood Transfusions)
11/2011
1Liver Transplantation
10/2011