Clara Camaschella Selected Research

hereditary Hyperferritinemia with congenital cataracts

10/2010	High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene.
2/2006	Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
7/2004	C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract.
11/2002	Pathogenesis of hyperferritinemia cataract syndrome.

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Clara Camaschella Research Topics

Disease

40	Iron Overload 01/2020 - 05/2002
26	Anemia 08/2022 - 09/2002
26	Iron Deficiencies 08/2022 - 03/2004
25	Hemochromatosis (Bronze Diabetes) 10/2020 - 05/2002
12	Inflammation (Inflammations) 08/2022 - 12/2008
9	Iron-Refractory Iron Deficiency Anemia 08/2022 - 05/2009
8	type 2 Hemochromatosis 12/2015 - 10/2002
6	Thalassemia 01/2020 - 12/2010
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 03/2004
5	Neoplasms (Cancer) 12/2020 - 01/2007
4	Iron-Deficiency Anemia (Anemia, Iron Deficiency) 01/2021 - 10/2011
4	type 3 Hemochromatosis 01/2014 - 05/2002
4	beta-Thalassemia (Cooley's Anemia) 01/2013 - 10/2006
4	hereditary Hyperferritinemia with congenital cataracts 10/2010 - 11/2002
3	Multiple Myeloma 04/2020 - 06/2013
3	Sideroblastic Anemia 01/2016 - 10/2009
3	Chronic Disease (Chronic Diseases) 01/2013 - 02/2011
3	Hyperferritinemia 01/2012 - 07/2004
3	Cataract (Cataracts) 10/2010 - 11/2002
2	Infections 09/2021 - 01/2019
2	Starvation 12/2020 - 06/2013
2	Metabolic Syndrome (Dysmetabolic Syndrome X) 01/2013 - 01/2012
2	Hypoxia (Hypoxemia) 12/2008 - 01/2008
1	COVID-19 09/2021
1	Communicable Diseases (Infectious Diseases) 09/2021
1	Prostatic Neoplasms (Prostate Cancer) 12/2020
1	Malaria 01/2019
1	Adenoma (Adenomas) 01/2019
1	Hemorrhage 01/2019
1	Nonketotic Hyperglycinemia 01/2016
1	Parasitic Diseases (Parasitic Disease) 01/2015
1	hypochromic microcytic Anemia 11/2014
1	Polycythemia (Erythrocytosis) 06/2014
1	Gastritis 01/2014
1	Hypochromic Anemia (Chlorosis) 06/2013
1	Splenomegaly 05/2012
1	Type 2 Diabetes Mellitus (MODY) 01/2012
1	Insulin Resistance 01/2012

Drug/Important Bio-Agent (IBA)

73	IronIBA 08/2022 - 05/2002
48	HepcidinsIBA 08/2022 - 01/2003
13	Transferrin (beta 2 Transferrin)IBA 01/2019 - 10/2002
12	Ferritins (Ferritin)IBA 01/2021 - 10/2002
12	Proteins (Proteins, Gene)FDA Link 01/2021 - 09/2005
11	Transferrin Receptors (Transferrin Receptor)IBA 08/2022 - 05/2002
7	metal transporting protein 1 (ferroportin)IBA 01/2020 - 06/2002
6	matriptase 2IBA 12/2016 - 12/2008
5	Erythropoietin FDA Link 08/2022 - 02/2013
5	Heme (Haem)IBA 11/2011 - 08/2007
4	Hormones (Hormone)IBA 01/2019 - 01/2012
4	DNA (Deoxyribonucleic Acid)IBA 01/2017 - 04/2003
4	Serine Proteases (Serine Protease)IBA 12/2016 - 12/2008
3	Iron-Regulatory Proteins (Iron-Responsive Element Binding Proteins)IBA 01/2019 - 02/2006
3	Hemoglobins (Hemoglobin)IBA 02/2015 - 10/2006
3	ElementsIBA 05/2010 - 07/2004
3	ApoferritinsIBA 02/2006 - 11/2002
2	AndrogensIBA 12/2020 - 06/2018
2	Bortezomib (Velcade)FDA Link 04/2020 - 06/2013
2	LigandsIBA 01/2020 - 02/2016
2	Glucose (Dextrose)FDA LinkGeneric 01/2019 - 06/2002
2	HematinicsIBA 11/2018 - 01/2015
2	Messenger RNA (mRNA)IBA 01/2015 - 07/2011
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2014 - 01/2007
2	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 07/2011 - 10/2008
2	Iron Regulatory Protein 1IBA 05/2010 - 08/2007
2	GlutaredoxinsIBA 05/2010 - 08/2007
2	EnzymesIBA 10/2009 - 08/2004
2	Peptides (Polypeptides)IBA 12/2008 - 03/2004
2	HomocysteineIBA 01/2007 - 08/2004
2	RNA (Ribonucleic Acid)IBA 10/2006 - 09/2005
1	MicronutrientsIBA 09/2021
1	VaccinesIBA 09/2021
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2021
1	bicalutamide (Casodex)FDA LinkGeneric 12/2020
1	Androgen Antagonists (Antiandrogens)IBA 12/2020
1	LipidsIBA 04/2020
1	Proteasome InhibitorsIBA 04/2020
1	Proteasome Endopeptidase Complex (Proteasome)IBA 04/2020
1	Bone Morphogenetic Protein ReceptorsIBA 01/2020
1	Interleukin-6 (Interleukin 6)IBA 01/2020
1	Sirolimus (Rapamycin)FDA Link 11/2017
1	Tacrolimus Binding Protein 1A (FKBP12)IBA 11/2017
1	ImmunophilinsIBA 11/2017
1	Activins (Activin)IBA 02/2016
1	Immunoglobulins (Immunoglobulin)IBA 06/2015
1	Erythropoietin Receptors (Erythropoietin Receptor)IBA 04/2015
1	SaltsIBA 01/2015
1	Nonsense Codon (Nonsense Mutation)IBA 11/2014
1	Glycoproteins (Glycoprotein)IBA 06/2014
1	Pharmaceutical PreparationsIBA 06/2013
1	Small Interfering RNA (siRNA)IBA 06/2013
1	C-Reactive ProteinIBA 02/2013
1	Insulin (Novolin)FDA Link 01/2012
1	Heme Oxygenase-1IBA 11/2011
1	biliverdin reductaseIBA 11/2011
1	Reactive Oxygen Species (Oxygen Radicals)IBA 11/2011
1	LipopolysaccharidesIBA 07/2011
1	CytokinesIBA 12/2010

Therapy/Procedure

3	Therapeutics 12/2020 - 01/2020
1	Transplantation 01/2021
1	Injections 06/2013