about
Juvenile hemochromatosis locus maps to chromosome 1q.Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis.New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.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 scavengingJuvenile hemochromatosis.The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice.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.Development of cellular and humoral response against WT1 protein vaccination in mice.Deferasirox treatment improved the hemoglobin level and decreased transfusion requirements in four patients with the myelodysplastic syndrome and primary myelofibrosis.A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia -- response to Jaspers et al.Hepcidin is decreased in TFR2 hemochromatosis.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/reperfusionConstruction of a YAC Contig Covering Human Chromosome 6p22A frequent polymorphism in the 5′ region of the BCMA geneHereditary hemochromatosis: aHpal polymorphism within the HLA-H geneTwo polymorphic repeats in the candidate region for the haemochromatosis geneA Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ TechnologyTwo novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous formGrowth hormone (GH)-induced reconstitution of CD8+ CD28+ T lymphocytes in a rare case of severe lymphopenia associated with Juvenile Haemochromatosis and Turner's syndromeDetection of Humoral Immune Responses against WT1 Antigen in Patients Affected by Different Hematological MalignanciesAnalysis of microsatellite instability in chronic lymphoproliferative disordersBeta-myosin mutations in hypertrophic cardiomyopathiesConstruction of a genetic map telomeric to HLA-A by microsatellite analysisA new complex polymorphic repeat close to the HLA-A and HLA-E lociExclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome
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description
researcher ORCID: 0000-0003-1188-7375
@en
wetenschapper
@nl
name
Antonella Roetto
@ast
Antonella Roetto
@en
Antonella Roetto
@es
Antonella Roetto
@nl
type
label
Antonella Roetto
@ast
Antonella Roetto
@en
Antonella Roetto
@es
Antonella Roetto
@nl
prefLabel
Antonella Roetto
@ast
Antonella Roetto
@en
Antonella Roetto
@es
Antonella Roetto
@nl
P106
P1153
7004245846
P21
P31
P496
0000-0003-1188-7375