Published in Haematologica on December 08, 2009
Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis. BMC Med Genet (2012) 0.80
Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant. BMC Genet (2010) 0.76
Cis and trans regulation of hepcidin expression by upstream stimulatory factor. Blood (2006) 1.22
Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection. Clin Chem (2004) 0.97
Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele. Blood Cells Mol Dis (2004) 0.96
Genetic variation in hepcidin expression and its implications for phenotypic differences in iron metabolism. Haematologica (2009) 0.92
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major. Haematologica (2009) 0.92
Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience. Haematologica (2004) 0.88
Two to tango: regulation of Mammalian iron metabolism. Cell (2010) 5.45
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet (2002) 4.19
Iron-deficiency anemia. N Engl J Med (2015) 3.94
The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab (2008) 3.78
Hepcidin is decreased in TFR2 hemochromatosis. Blood (2004) 3.46
Loss of mismatched HLA in leukemia after stem-cell transplantation. N Engl J Med (2009) 3.38
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood (2007) 2.10
Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis. Blood (2007) 2.09
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report. Clin Chem Lab Med (2014) 2.04
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood (2009) 1.80
Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis. Blood (2007) 1.78
Rapamycin for treatment of type I autosomal dominant polycystic kidney disease (RAPYD-study): a randomized, controlled study. Nephrol Dial Transplant (2012) 1.61
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood (2004) 1.59
Variation of hemoglobin levels in normal Italian populations from genetic isolates. Haematologica (2008) 1.57
Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders. Haematologica (2008) 1.54
Coexistence of different circulating anti-podocyte antibodies in membranous nephropathy. Clin J Am Soc Nephrol (2012) 1.51
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]. Med Clin (Barc) (2006) 1.42
TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood (2011) 1.39
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. Blood (2007) 1.36
Polarization dictates iron handling by inflammatory and alternatively activated macrophages. Haematologica (2010) 1.36
Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia. Haematologica (2006) 1.34
Towards explaining "unexplained hyperferritinemia". Haematologica (2009) 1.33
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. J Clin Invest (2010) 1.32
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol (2002) 1.32
Low hepcidin accounts for the proinflammatory status associated with iron deficiency. Blood (2011) 1.31
A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood (2002) 1.31
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J Med Genet (2011) 1.28
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms. Haematologica (2011) 1.25
Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia. Blood (2012) 1.25
Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis. Blood (2010) 1.23
Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis. Blood Cells Mol Dis (2007) 1.20
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). Blood (2005) 1.17
Iron refractory iron deficiency anemia. Haematologica (2013) 1.13
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet (2013) 1.12
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS One (2009) 1.11
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood (2009) 1.10
Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J Pediatr (2007) 1.09
Fetal DNA detection in maternal plasma throughout gestation. Hum Genet (2005) 1.09
A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization. Cardiovasc Res (2011) 1.09
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response. Haematologica (2008) 1.08
Reactive thrombocytosis might contribute to chemotherapy-related thrombophilia in patients with lung cancer. Clin Lung Cancer (2007) 1.08
Natural history of juvenile haemochromatosis. Br J Haematol (2002) 1.07
Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol (2005) 1.07
A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. Haematologica (2010) 1.07
Relative contribution of iron genes, dysmetabolism and hepatitis C virus (HCV) in the pathogenesis of altered iron regulation in HCV chronic hepatitis. Haematologica (2007) 1.06
Increased serum hepcidin levels in subjects with the metabolic syndrome: a population study. PLoS One (2012) 1.05
Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer. BMC Genomics (2008) 1.02
Hepatic expression of hemochromatosis genes in two mouse strains after phlebotomy and iron overload. Haematologica (2005) 1.02
No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet (2003) 1.02
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia. Haematologica (2008) 1.01
Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation. Mov Disord (2008) 1.01
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. Clin Chem (2004) 1.01
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases. Clin Chem (2010) 1.00
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Hum Mutat (2010) 0.98
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology (2002) 0.98
Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection. Clin Chem (2004) 0.97
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. Hum Mutat (2006) 0.97
Hyperhomocysteinemia in patients with Cushing's syndrome. J Clin Endocrinol Metab (2004) 0.97
Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues. Blood (2010) 0.96
Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele. Blood Cells Mol Dis (2004) 0.96
Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice. Blood (2010) 0.95
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Biochem Biophys Res Commun (2003) 0.94
New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis. Best Pract Res Clin Haematol (2005) 0.94
Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations. Br J Haematol (2003) 0.94
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. Blood (2002) 0.93
New and old players in the hepcidin pathway. Haematologica (2008) 0.93
How I treat unexplained refractory iron deficiency anemia. Blood (2013) 0.92
Hemochromatosis due to mutations in transferrin receptor 2. Blood Cells Mol Dis (2003) 0.92
Clinical, pathological, and molecular correlates in ferroportin disease: a study of two novel mutations. J Hepatol (2008) 0.92
Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am J Med Genet A (2006) 0.90
Analysis of ferritin genes in Parkinson disease. Clin Chem Lab Med (2007) 0.89
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. Blood Cells Mol Dis (2006) 0.88
C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract. Blood Cells Mol Dis (2004) 0.88
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. Eur J Hum Genet (2003) 0.88
Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience. Haematologica (2004) 0.88
Iron increases the susceptibility of multiple myeloma cells to bortezomib. Haematologica (2012) 0.87
New TFR2 mutations in young Italian patients with hemochromatosis. Haematologica (2008) 0.87
Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum. Blood (2002) 0.87
Temperature-tolerant COLD-PCR reduces temperature stringency and enables robust mutation enrichment. Clin Chem (2012) 0.87