Lista de obras - Antonella Roetto - Dominio Público Uruguay

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

article

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

artículo científico publicado en 2005

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

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2002

Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis

artículo científico publicado en 2017

Analysis of microsatellite instability in chronic lymphoproliferative disorders

artículo científico publicado en 1996

Beta-myosin mutations in hypertrophic cardiomyopathies

scientific article published on 01 March 1995

Construction of a YAC Contig Covering Human Chromosome 6p22

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

scientific article published on 01 October 1993

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

scientific article published on 01 June 2000

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

artículo científico publicado en 2004

Hepcidin is decreased in TFR2 hemochromatosis

artículo científico publicado en 2004

Hereditary hemochromatosis: aHpal polymorphism within the HLA-H gene

article

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

artículo científico publicado en 2009

Iron: An Essential Element of Cancer Metabolism

artículo científico publicado en 2020

Juvenile hemochromatosis locus maps to chromosome 1q.

artículo científico publicado en 1999

Juvenile hemochromatosis.

artículo científico publicado en 2002

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

artículo científico publicado en 2003

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

artículo científico publicado en 2001

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2010

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

article

Two polymorphic repeats in the candidate region for the haemochromatosis gene

article

Lista de obras de Antonella Roetto

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

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 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

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.

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

Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis

Analysis of microsatellite instability in chronic lymphoproliferative disorders

Beta-myosin mutations in hypertrophic cardiomyopathies

Construction of a YAC Contig Covering Human Chromosome 6p22

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

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.

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

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

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

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

Hepcidin is decreased in TFR2 hemochromatosis

Hereditary hemochromatosis: aHpal polymorphism within the HLA-H gene

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

Iron: An Essential Element of Cancer Metabolism

Juvenile hemochromatosis locus maps to chromosome 1q.

Juvenile hemochromatosis.

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

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

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

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

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

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.

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

Two polymorphic repeats in the candidate region for the haemochromatosis gene