Published in Hum Mutat on May 01, 2010
Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia. Blood (2012) 1.25
Iron refractory iron deficiency anemia. Haematologica (2013) 1.13
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Hum Mol Genet (2012) 1.09
The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study. BMC Med Genet (2011) 0.93
Iron metabolism: current facts and future directions. Biochem Med (Zagreb) (2012) 0.92
Hereditary hemochromatosis and transferrin receptor 2. Biochim Biophys Acta (2011) 0.85
Identification and characterization of a novel murine allele of Tmprss6. Haematologica (2013) 0.80
Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. Pediatrics (2013) 0.80
Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin levels. Haematologica (2016) 0.80
Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation. PLoS One (2012) 0.79
N-glycosylation is required for matriptase-2 autoactivation and ectodomain shedding. J Biol Chem (2014) 0.79
Iron-refractory iron deficiency anemia. Turk J Haematol (2015) 0.78
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet (2009) 6.83
A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood (2005) 6.07
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Two to tango: regulation of Mammalian iron metabolism. Cell (2010) 5.45
Immunoassay for human serum hepcidin. Blood (2008) 5.32
A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci U S A (2002) 4.22
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet (2002) 4.19
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature (2012) 4.13
Iron-deficiency anemia. N Engl J Med (2015) 3.94
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med (2016) 3.88
The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab (2008) 3.78
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
Hepcidin is decreased in TFR2 hemochromatosis. Blood (2004) 3.46
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet (2003) 2.83
Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification. Blood (2007) 2.61
Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis. Blood (2013) 2.46
Low plasma vitamin B-6 concentrations and modulation of coronary artery disease risk. Am J Clin Nutr (2004) 2.45
FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease. Am J Clin Nutr (2008) 2.42
A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med (2009) 2.30
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood (2013) 2.27
Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran. Thromb Haemost (2006) 2.27
Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster. RNA (2006) 2.26
Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. Br J Haematol (2011) 2.24
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica (2007) 2.23
Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature (2010) 2.21
Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemia. Blood (2009) 2.20
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol (2010) 2.17
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. Blood (2007) 2.16
Advances in quantitative hepcidin measurements by time-of-flight mass spectrometry. PLoS One (2008) 2.13
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet (2009) 2.12
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12
Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis. Blood (2007) 2.09
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) (2003) 2.05
SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease. Lipids (2008) 2.02
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol (2003) 1.95
Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population. J Hum Genet (2007) 1.87
Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis: Insulin resistance and response to antiviral therapy. Hepatology (2007) 1.85
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet (2010) 1.79
Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis. Blood (2007) 1.78
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet (2012) 1.74
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. PLoS One (2009) 1.73
Tailoring iron chelation by iron intake and serum ferritin: the prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias. Haematologica (2009) 1.73
Analysis of telomeres in peripheral blood cells from patients with bone marrow failure. Pediatr Blood Cancer (2009) 1.71
Biochemical and genetic markers of iron status and the risk of coronary artery disease: an angiography-based study. Clin Chem (2002) 1.69
Alterations of systemic and muscle iron metabolism in human subjects treated with low-dose recombinant erythropoietin. Blood (2009) 1.66
Differential regulation of iron homeostasis during human macrophage polarized activation. Eur J Immunol (2010) 1.64
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat (2012) 1.64
Interaction of antibodies against cytomegalovirus with heat-shock protein 60 in pathogenesis of atherosclerosis. Lancet (2003) 1.64
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol (2005) 1.63
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica (2009) 1.63
Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer (2012) 1.60
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. Am J Hematol (2010) 1.60
Severe lactic acidosis due to thiamine deficiency in a patient with B-cell leukemia/lymphoma on total parenteral nutrition during high-dose methotrexate therapy. J Pediatr Hematol Oncol (2003) 1.59
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood (2004) 1.59
Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS Genet (2011) 1.57
Variation of hemoglobin levels in normal Italian populations from genetic isolates. Haematologica (2008) 1.57
On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease. Eur J Hum Genet (2006) 1.54
Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders. Haematologica (2008) 1.54
Results of the first international round robin for the quantification of urinary and plasma hepcidin assays: need for standardization. Haematologica (2009) 1.51
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet (2010) 1.50
Reduced serum hepcidin levels in patients with chronic hepatitis C. J Hepatol (2009) 1.48
An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. Am J Hum Genet (2007) 1.48
Prevalence of body iron excess in the metabolic syndrome. Diabetes Care (2005) 1.48
Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease. J Lipid Res (2003) 1.41
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica (2004) 1.41
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. Haematologica (2007) 1.40
TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood (2011) 1.39
An unusual heart failure: cardiac amyloidosis due to light-chain myeloma. Circulation (2011) 1.39
MiR-34a targeting of Notch ligand delta-like 1 impairs CD15+/CD133+ tumor-propagating cells and supports neural differentiation in medulloblastoma. PLoS One (2011) 1.38
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
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat (2008) 1.34
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
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat Genet (2005) 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