List of works - Antonella Roetto

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

scientific article

Hepcidin is decreased in TFR2 hemochromatosis

scientific article published on 14 October 2004

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

scientific article

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

scientific article

Juvenile hemochromatosis locus maps to chromosome 1q.

scientific article

Deferasirox is a powerful NF-kappaB inhibitor in myelodysplastic cells and in leukemia cell lines acting independently from cell iron deprivation by chelation and reactive oxygen species scavenging

scientific article

Deferasirox treatment improved the hemoglobin level and decreased transfusion requirements in four patients with the myelodysplastic syndrome and primary myelofibrosis.

scientific article published on October 2008

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4

scientific article (publication date: 15 July 2002)

Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signaling. Implications for transferrin-dependent hepcidin regulation.

scientific article published on 15 July 2010

Juvenile hemochromatosis.

scientific article

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

scientific article (publication date: 15 March 2004)

GABA (γ-Amino-Butyric Acid) Neurotransmission: Identification and Fine Mapping of the Human GABABReceptor Gene

scientific article published on September 18, 1998

The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice.

scientific article published on 21 March 2014

Analysis of microsatellite instability in chronic lymphoproliferative disorders

scientific article published on 01 February 1996

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron

scientific article

A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology

article

Construction of a YAC Contig Covering Human Chromosome 6p22

Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form

article

Transferrin Receptor 2 Dependent Alterations of Brain Iron Metabolism Affect Anxiety Circuits in the Mouse

scientific article

Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21

scientific article published on 01 June 2000

Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis

scientific article

Hereditary hemochromatosis: aHpal polymorphism within the HLA-H gene

article

Construction of a genetic map telomeric to HLA-A by microsatellite analysis

scientific article published on 01 October 1993

A comparative study of myocardial molecular phenotypes of two tfr2β null mice: role in ischemia/reperfusion

article

A frequent polymorphism in the 5′ region of the BCMA gene

article

Detection of Humoral Immune Responses against WT1 Antigen in Patients Affected by Different Hematological Malignancies

scientific article published in 2008

Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome

scientific article published on 29 October 2009

A new complex polymorphic repeat close to the HLA-A and HLA-E loci

scientific article published on 01 November 1994

A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia -- response to Jaspers et al.

scientific article published on 24 December 2012

Growth hormone (GH)-induced reconstitution of CD8+ CD28+ T lymphocytes in a rare case of severe lymphopenia associated with Juvenile Haemochromatosis and Turner's syndrome

scientific article published in October 2004

Iron: An Essential Element of Cancer Metabolism

scientific article published on 03 December 2020

Development of cellular and humoral response against WT1 protein vaccination in mice

scientific article published on 19 June 2015

Two polymorphic repeats in the candidate region for the haemochromatosis gene

article

Beta-myosin mutations in hypertrophic cardiomyopathies

scientific article published on 01 March 1995

List of works by Antonella Roetto

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Hepcidin is decreased in TFR2 hemochromatosis

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

Juvenile hemochromatosis locus maps to chromosome 1q.

Deferasirox is a powerful NF-kappaB inhibitor in myelodysplastic cells and in leukemia cell lines acting independently from cell iron deprivation by chelation and reactive oxygen species scavenging

Deferasirox treatment improved the hemoglobin level and decreased transfusion requirements in four patients with the myelodysplastic syndrome and primary myelofibrosis.

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4

Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signaling. Implications for transferrin-dependent hepcidin regulation.

Juvenile hemochromatosis.

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

GABA (γ-Amino-Butyric Acid) Neurotransmission: Identification and Fine Mapping of the Human GABABReceptor Gene

The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice.

Analysis of microsatellite instability in chronic lymphoproliferative disorders

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron

A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology

Construction of a YAC Contig Covering Human Chromosome 6p22

Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form

Transferrin Receptor 2 Dependent Alterations of Brain Iron Metabolism Affect Anxiety Circuits in the Mouse

Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21

Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis

Hereditary hemochromatosis: aHpal polymorphism within the HLA-H gene

Construction of a genetic map telomeric to HLA-A by microsatellite analysis

A comparative study of myocardial molecular phenotypes of two tfr2β null mice: role in ischemia/reperfusion

A frequent polymorphism in the 5′ region of the BCMA gene

Detection of Humoral Immune Responses against WT1 Antigen in Patients Affected by Different Hematological Malignancies

Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome

A new complex polymorphic repeat close to the HLA-A and HLA-E loci

A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia -- response to Jaspers et al.

Growth hormone (GH)-induced reconstitution of CD8+ CD28+ T lymphocytes in a rare case of severe lymphopenia associated with Juvenile Haemochromatosis and Turner's syndrome

Iron: An Essential Element of Cancer Metabolism

Development of cellular and humoral response against WT1 protein vaccination in mice

Two polymorphic repeats in the candidate region for the haemochromatosis gene

Beta-myosin mutations in hypertrophic cardiomyopathies