Irma Dianzani Selected Research

Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)

1/2021	The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.
10/2016	Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.
4/2016	Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia.
10/2014	Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
10/2014	Analysis of the interactome of ribosomal protein S19 mutants.
7/2014	Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.
7/2014	Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
12/2012	High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
2/2010	Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
9/2009	Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.

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Irma Dianzani Research Topics

Disease

15	Diamond-Blackfan Anemia (Anemia, Diamond Blackfan) 01/2021 - 12/2004
11	Neoplasms (Cancer) 05/2021 - 03/2008
10	Malignant Mesothelioma 01/2022 - 03/2008
4	Mesothelioma 01/2022 - 01/2015
2	Pure Red-Cell Aplasia 01/2021 - 11/2008
2	Congenital Bone Marrow Failure Syndromes 01/2017 - 10/2014
2	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 01/2013 - 11/2006
2	Genetic Predisposition to Disease (Genetic Predisposition) 07/2008 - 03/2008
2	Autoimmune Lymphoproliferative Syndrome 11/2006 - 09/2004
1	Uniparental Disomy 01/2019
1	Dysplastic Nevus Syndrome (Dysplastic Nevus) 12/2018
1	Melanoma (Melanoma, Malignant) 12/2018
1	Carcinogenesis 10/2017
1	Mucoepidermoid Carcinoma 01/2015
1	Cytopenia 10/2013
1	Anemia 02/2010
1	Fever (Fevers) 11/2009
1	Mevalonate Kinase Deficiency 11/2009
1	Familial Mediterranean Fever (Periodic Disease) 11/2009
1	Cryopyrin-Associated Periodic Syndromes 11/2009
1	Hereditary Autoinflammatory Diseases 11/2009
1	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita) 03/2009
1	Aplastic Anemia (Anemia, Hypoplastic) 03/2009
1	Lung Neoplasms (Lung Cancer) 07/2008
1	Asbestosis 07/2008
1	Congenital Hypoplastic Anemia 12/2004
1	Thyroid Dysgenesis (Thyroid Agenesis) 11/2004
1	Lymphoma (Lymphomas) 09/2004
1	B-Cell Lymphoma (Lymphoma, B Cell) 09/2004
1	Phenylketonurias (Phenylketonuria) 03/2004
1	Pseudohypoparathyroidism 05/2003
1	Pseudopseudohypoparathyroidism 05/2003

Drug/Important Bio-Agent (IBA)

13	AsbestosIBA 01/2022 - 03/2008
9	Ribosomal Proteins (Ribosomal Protein)IBA 01/2021 - 12/2004
4	DiamondIBA 01/2020 - 09/2009
4	ribosomal protein S19IBA 10/2014 - 12/2004
3	PerforinIBA 01/2013 - 09/2004
2	Proteins (Proteins, Gene)FDA Link 09/2009 - 05/2003
1	Glucocorticoid Receptors (Glucocorticoid Receptor)IBA 01/2021
1	GlucocorticoidsIBA 01/2021
1	Biomarkers (Surrogate Marker)IBA 01/2019
1	1-methyl-1-piperidinomethane sulfonateIBA 12/2018
1	RNA (Ribonucleic Acid)IBA 10/2016
1	Heme (Haem)IBA 04/2016
1	CarcinogensIBA 01/2015
1	Complement System Proteins (Complement)IBA 10/2014
1	RNA Precursors (Precursor, mRNA)IBA 10/2014
1	SteroidsIBA 02/2010
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 11/2009
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 11/2009
1	Interleukin-1beta (Interleukin 1 beta)IBA 11/2009
1	Amino Acids FDA Link 09/2009
1	Telomerase (Telomerase Reverse Transcriptase)IBA 03/2009
1	telomerase RNA (bTR)IBA 03/2009
1	Mineral Fibers (Mineral Fiber)IBA 03/2008
1	Death Domain ReceptorsIBA 11/2006
1	Oncogene Proteins (Oncogene Protein)IBA 11/2005
1	Messenger RNA (mRNA)IBA 12/2004
1	Codon (Codons)IBA 11/2004
1	Nonsense Codon (Nonsense Mutation)IBA 11/2004
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 03/2004
1	sapropterin (tetrahydrobiopterin)FDA Link 03/2004
1	Biogenic Amines (Biogenic Amine)IBA 03/2004
1	5-phenylpent-4-enyl-1-hydroperoxideIBA 05/2003

Therapy/Procedure

2	Ligation 12/2012 - 11/2008
1	Therapeutics 01/2022
1	Hematopoietic Stem Cell Transplantation 10/2013
1	Stem Cell Transplantation 02/2010