Clara Camaschella
#139,196
Most Influential Person Now
Researcher
Clara Camaschella's AcademicInfluence.com Rankings
Clara Camaschellaengineering Degrees
Engineering
#5124
World Rank
#6368
Historical Rank
Bioengineering
#52
World Rank
#54
Historical Rank
Biomedical Engineering
#365
World Rank
#374
Historical Rank
Download Badge
Engineering
Why Is Clara Camaschella Influential?
(Suggest an Edit or Addition)Clara Camaschella's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Two to Tango: Regulation of Mammalian Iron Metabolism (2010) (1683)
- Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis (2003) (892)
- The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 (2000) (822)
- Iron-deficiency anemia. (2015) (636)
- The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. (2008) (529)
- Hepcidin is decreased in TFR2 hemochromatosis. (2005) (407)
- Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. (1997) (342)
- Clinical significance of somatic mutation in unexplained blood cytopenia. (2017) (322)
- Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis. (2008) (320)
- The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. (2007) (289)
- Correction: Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (2015) (268)
- Iron metabolism and iron disorders revisited in the hepcidin era (2020) (257)
- New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. (2001) (255)
- Polarization dictates iron handling by inflammatory and alternatively activated macrophages (2010) (245)
- Iron deficiency across chronic inflammatory conditions: International expert opinion on definition, diagnosis, and management (2017) (245)
- Heterogeneity of hemochromatosis in Italy. (1998) (241)
- Juvenile hemochromatosis locus maps to chromosome 1q. (1999) (236)
- Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. (2010) (216)
- Iron deficiency. (2019) (202)
- Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders. (2005) (197)
- A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function (2013) (193)
- Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. (2004) (190)
- Iron refractory iron deficiency anemia (2013) (190)
- Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders (2008) (189)
- Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (2014) (170)
- New insights into iron deficiency and iron deficiency anemia. (2017) (166)
- Natural history of juvenile haemochromatosis (2002) (159)
- Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis. (2007) (153)
- Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia. (2012) (147)
- Defective recovery and severe renal damage after acute hemolysis in hemopexin-deficient mice. (1999) (142)
- How I treat unexplained refractory iron deficiency anemia. (2014) (141)
- Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. (2002) (133)
- Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). (2006) (133)
- Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis. (2010) (129)
- Thalassemia intermedia. (1995) (129)
- Low hepcidin accounts for the proinflammatory status associated with iron deficiency. (2011) (127)
- The second transferrin receptor regulates red blood cell production in mice. (2015) (126)
- An alternatively spliced form of CD79b gene may account for altered B-cell receptor expression in B-chronic lymphocytic leukemia. (1999) (119)
- A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. (2002) (119)
- Iron deficiency: new insights into diagnosis and treatment. (2015) (116)
- Ineffective erythropoiesis and regulation of iron status in iron loading anaemias (2016) (115)
- Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. (2009) (113)
- A potential pathogenetic role of iron in Alzheimer's disease (2008) (110)
- TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. (2011) (105)
- Hepcidin and Anemia: A Tight Relationship (2019) (105)
- Iron and hepcidin: a story of recycling and balance. (2013) (99)
- Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders (1997) (98)
- Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations (2011) (95)
- A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta‐thalassemia. (1984) (93)
- Human α‐Thalassemia syndromes: Detection of molecular defects (1996) (93)
- Limiting hepatic Bmp-Smad signaling by matriptase-2 is required for erythropoietin-mediated hepcidin suppression in mice. (2016) (92)
- Increased Serum Hepcidin Levels in Subjects with the Metabolic Syndrome: A Population Study (2012) (90)
- Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. (2007) (90)
- Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). (2004) (90)
- Hyperhomocysteinemia in patients with Cushing's syndrome. (2004) (86)
- The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients (1996) (86)
- Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. (2009) (86)
- Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood. (1990) (81)
- Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? (1982) (79)
- Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum. (2002) (78)
- Genetic interactions in thalassemia intermedia: Analysis of β‐Mutations, α‐Genotype, γ‐Promoters, and β‐LCR hypersensitive sites 2 and 4 in Italian patients (1995) (78)
- Recent advances in the understanding of inherited sideroblastic anaemia (2008) (74)
- The mutual control of iron and erythropoiesis (2016) (72)
- A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis (2011) (71)
- Juvenile hemochromatosis. (2002) (69)
- Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in β-thalassemic erythropoiesis (2011) (68)
- Genetic and clinical heterogeneity of ferroportin disease (2005) (68)
- Haemochromatosis in patients with β‐thalassaemia trait (2000) (68)
- Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues. (2010) (67)
- Towards explaining “unexplained hyperferritinemia” (2009) (66)
- Inherited disorders of iron metabolism (2011) (64)
- Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele. (2004) (63)
- Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis. (2008) (62)
- Novel TMPRSS6 mutations associated with iron‐refractory iron deficiency anemia (IRIDA) (2010) (61)
- Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia. (2006) (60)
- Inherited HFE‐unrelated hemochromatosis in italian families (1999) (60)
- Bmp6 Expression in Murine Liver Non Parenchymal Cells: A Mechanism to Control their High Iron Exporter Activity and Protect Hepatocytes from Iron Overload? (2015) (59)
- Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes (2009) (58)
- Natural history of congenital dyserythropoietic anemia type II. (2001) (58)
- Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. (2002) (57)
- BMP6 orchestrates iron metabolism (2009) (56)
- Hemochromatosis due to mutations in transferrin receptor 2. (2002) (56)
- The influence of hemochromatosis mutations on iron overload of thalassemia major. (1999) (56)
- Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. (2004) (55)
- Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. (1999) (54)
- Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. (1991) (54)
- Natural history of recessive inheritance of DMT1 mutations. (2008) (53)
- New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis. (2005) (53)
- Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies (2014) (51)
- A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. (2006) (50)
- Genetic haemochromatosis: genes and mutations associated with iron loading. (2002) (50)
- Regulation of cell surface transferrin receptor-2 by iron-dependent cleavage and release of a soluble form (2015) (49)
- Gγ and Aγ globin chains separation and quantitation by isoelectric focusing (1979) (47)
- Different hematological phenotypes caused by the interaction of triplicated α‐globin genes and heterozygous β‐thalassemia (1997) (47)
- Dilemmas and progress in mutation detection. (1993) (46)
- Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results (1999) (44)
- The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes. (2017) (43)
- Iron Metabolism, Iron Deficiency and Disorders of Haem Synthesis (2007) (43)
- Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large‐scale analysis of disorders of iron metabolism (2006) (42)
- Iron deficiency in chronic heart failure: case‐based practical guidance (2018) (41)
- Circulating ‘trophoblast’ cells in pregnancy have maternal genetic markers (1988) (41)
- New TFR2 mutations in young Italian patients with hemochromatosis (2008) (41)
- NCOA4-mediated ferritinophagy in macrophages is crucial to sustain erythropoiesis in mice. (2020) (41)
- Hepatic expression of hemochromatosis genes in two mouse strains after phlebotomy and iron overload. (2005) (40)
- 2 Juvenile haemochromatosis (1998) (40)
- Genetic interactions in thalassemia intermedia: analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients. (1995) (40)
- The C–T substitution in the distal CACCC box of the β‐globin gene promoter is a common cause of silent β thalassaemia in the Italian population (1990) (39)
- The extrahepatic role of TFR2 in iron homeostasis (2014) (39)
- Increased proportion of suppressor/cytotoxic (OKT8+) cells in patients with Hodgkin's disease in long‐lasting remission (1983) (39)
- Anemia in the Elderly (2018) (38)
- Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. (2014) (38)
- Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia). (1979) (37)
- Genetic history of phenylketonuria mutations in Italy. (1994) (37)
- Treating iron overload. (2013) (37)
- Clinical haemochromatosis in HFE mutation carriers (2002) (37)
- Rare Types of Genetic Hemochromatosis (2009) (36)
- New and old players in the hepcidin pathway (2008) (36)
- Reactive thrombocytosis might contribute to chemotherapy-related thrombophilia in patients with lung cancer. (2007) (36)
- The Repair of Skeletal Muscle Requires Iron Recycling through Macrophage Ferroportin (2016) (35)
- The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice (2014) (34)
- Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response (2008) (34)
- Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. (2001) (34)
- Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis. (1988) (34)
- Pathogenesis of hyperferritinemia cataract syndrome. (2002) (33)
- Iron increases the susceptibility of multiple myeloma cells to bortezomib (2013) (33)
- Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population (2003) (33)
- Clinical and Haematological Data in 254 Cases of Beta‐Thalassaemia Trait in Italy (1976) (33)
- Serum erythropoietin and circulating transferrin receptor in thalassemia intermedia patients with heterogeneous genotypes. (1996) (32)
- Italian type of deletional hereditary persistence of fetal hemoglobin. (1986) (32)
- Relationship between clone metrics and clinical outcome in clonal cytopenia. (2021) (32)
- 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. (2005) (31)
- Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein (2016) (31)
- A benign form of thalassaemia intermedia may be determined by the interaction of triplicated α locus and heterozygous β‐thalassaemia (1987) (31)
- Characterization of Phenylketonuria Alleles in the Italian Population (1995) (30)
- Molecular Mechanisms Regulating Hepcidin Revealed by Hepcidin Disorders (2011) (30)
- Variation of hemoglobin levels in normal Italian populations from genetic isolates (2008) (30)
- Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch. (1991) (30)
- A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer. (1990) (29)
- Serum levels of the hepcidin-20 isoform in a large general population: The Val Borbera study☆ (2012) (29)
- Iron and erythropoiesis: a dual relationship (2011) (29)
- Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. (1991) (28)
- A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology. (2000) (28)
- Hereditary hemochromatosis: progress and perspectives (2000) (28)
- Recent advances in iron metabolism and related disorders (2010) (27)
- Rapid identification by denaturing gradient gel electrophoresis of mutations in the γ‐globin gene promoters in non‐deletion type HPFH (1992) (27)
- The changing landscape of iron deficiency. (2020) (27)
- Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice. (2010) (26)
- Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: evidence from a murine model. (2018) (26)
- Iron Induces Cell Death and Strengthens the Efficacy of Antiandrogen Therapy in Prostate Cancer Models (2020) (26)
- Human alpha-thalassemia syndromes: detection of molecular defects. (1996) (25)
- Sardinian delta beta zero-thalassemia: a further example of a C to T substitution at position -196 of the A gamma globin gene promoter. (1987) (24)
- Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia. (1997) (24)
- Identification of TMPRSS6 cleavage sites of hemojuvelin (2015) (24)
- The A736V TMPRSS6 polymorphism influences hepcidin and iron metabolism in chronic hemodialysis patients: TMPRSS6 and hepcidin in hemodialysis (2013) (24)
- Vaccine efficacy and iron deficiency: an intertwined pair? (2021) (24)
- TFR2 Y250X mutation in Italy (2001) (24)
- Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population (2011) (24)
- Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. (2005) (23)
- Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases (1991) (23)
- Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. (1996) (23)
- MICROCYTIC ANEMIA AND HEPATIC IRON OVERLOAD IN A CHILD WITH COMPOUND HETEROZYGOUS MUTATIONS IN DMT 1 (2005) (22)
- Construction of a YAC contig covering human chromosome 6p22. (1996) (22)
- Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship (2013) (22)
- The relationship between anemia, fecal stercobilinogen, erythrocyte survival, and globin synthesis in heterozygotes for beta-thalassemia. (1975) (22)
- Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21. (2000) (21)
- How I manage patients with atypical microcytic anaemia (2013) (21)
- Analysis of microsatellite instability in chronic lymphoproliferative disorders (1996) (20)
- THE HOMOZYGOUS STATE FOR THE ‐87 C→Gβ+ THALASSAEMIA (1990) (20)
- Advances in understanding iron metabolism and its crosstalk with erythropoiesis (2018) (20)
- Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin. (2000) (18)
- Transient decrease of serum iron after acute erythropoietin treatment contributes to hepcidin inhibition by ERFE in mice (2018) (17)
- C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract. (2004) (17)
- Erythroblast apoptosis and microenvironmental iron restriction trigger anemia in the VK*MYC model of multiple myeloma (2015) (16)
- A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2. (2017) (16)
- Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. (2003) (16)
- Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience. (2004) (16)
- Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch. (1991) (16)
- Hereditary hemochromatosis: a HpaI polymorphism within the HLA-H gene. (1997) (16)
- Iron Causes Lipid Oxidation and Inhibits Proteasome Function in Multiple Myeloma Cells: A Proof of Concept for Novel Combination Therapies (2020) (16)
- Juvenile haemochromatosis. (1998) (16)
- Expression of GATA-1 mRNA in human myeloid leukemic cells. (1994) (16)
- Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine → threonine at position 75 (E 19) of the γ chain (1976) (15)
- The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin. (1989) (15)
- Clinical and haematological improvement induced by etidronate in a patient with idiopathic myelofibrosis and osteosclerosis (1994) (15)
- A Strong Anti-Inflammatory Signature Revealed by Liver Transcription Profiling of Tmprss6−/− Mice (2013) (15)
- A newly‐characterized α‐thalassaemia‐1 deletion removes the entire α‐like globin gene cluster in an Italian family (1991) (14)
- Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans (2013) (14)
- Geographical distribution of phenylalanine hydroxylase alleles in Sicily (1993) (14)
- G20210A homozygosity in antiphospholipid syndrome secondary to systemic lupus erythematosus. (2000) (14)
- The beta‐globin gene in Sardinian delta beta 0‐thalassemia carries a C–‐T nonsense mutation at codon 39. (1984) (13)
- Induction of iron excess restricts malignant plasma cells expansion and potentiates bortezomib effect in models of multiple myeloma (2017) (13)
- Feasibility of molecular diagnosis of alpha-thalassemia in the evaluation of microcytosis. (1997) (13)
- The -582A>G variant of the HAMP promoter is not associated with high serum ferritin levels in normal subjects (2010) (13)
- Interaction between Hb Hasharon and alpha-thalassemia: an approach to the problem of the number of human alpha loci. (1978) (12)
- Electrophoretic separation of A gamma and G gamma human globin chains in Nonidet P-40. (1979) (12)
- Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia. (1994) (11)
- High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene (2010) (11)
- Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin (2016) (10)
- Human peripheral blood granulocytes and myeloid leukemic cell lines express both transcripts encoding for stem cell factor (1994) (10)
- The 3' ends of the deletions of Spanish delta beta zero-thalassemia and black HPFH 1 and 2 lie within 17 kilobases (1987) (10)
- Correction: Increased Serum Hepcidin Levels in Subjects with the Metabolic Syndrome: A Population Study (2013) (9)
- Hypothalamic pituitary adrenal function in patients with thalassemia major. (1989) (9)
- Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis. (1992) (9)
- A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis. (2018) (8)
- Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-α and Tfr2-β isoforms in different tissues (8)
- Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype (2015) (8)
- Aceruloplasminemia: a case report (2008) (8)
- A benign form of thalassaemia intermedia may be determined by the interaction of triplicated alpha locus and heterozygous beta-thalassaemia. (1987) (8)
- How to Assess Causality of TMPRSS6 Mutations? (2013) (8)
- Construction of a genetic map telomeric to HLA-A by microsatellite analysis. (1993) (8)
- Clinical haemochromatosis in HFE mutation carriers. Authors' reply (2002) (7)
- DNA Polymorphism Analysis in the Italian Population and Prenatal Diagnosis of Thalassemia (1985) (7)
- Diagnosis of juvenile hemochromatosis in an 11-year-old child combining genetic analysis and non-invasive liver iron quantitation (2003) (7)
- Erratum: Genetic and clinical heterogeneity of ferroportin disease (British Journal of Haematology (2005) 131, (663-670)) (2006) (7)
- BLUNTED HEPCIDIN RESPONSE TO ORAL IRON CHALLENGE IN HFE-HEMOCHROMATOSIS (2007) (6)
- A unique origin for Sicilian (δβ)∘-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis (1994) (6)
- A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family. (1991) (6)
- Inherited hemochromatosis: from genetics to clinics. (2005) (6)
- Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia. (1988) (6)
- GDF11 is not the target of luspatercept. (2019) (6)
- Molecular characterization and hematological phenotype of Sicilian delta beta-thalassemia . (1986) (6)
- Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy (1990) (6)
- Alternative splicing of CD79a (Ig alpha) and CD79b (Ig beta) transcripts in human B-CLL cells. (1999) (6)
- FETAL DIAGNOSIS OF β-THALASSAEMIA BY DNA ANALYSIS IN ITALY (1986) (6)
- Polymorphism of human fetal haemoglobin studied by isoelectric focusing (1980) (6)
- Hemochromatosis proteins are dispensable for the acute hepcidin response to BMP2. (2020) (6)
- Epcr 23 bp insertion in a patient with severe progressive arterial disease: a dominant loss of function mutant in conditions of increased apc request? (2002) (5)
- The 3' ends of the deletions of Spanish delta beta zero-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. (1987) (5)
- Distribution of Ha-RAS-1 proto-oncogene alleles in breast cancer patients and in a control population (1988) (5)
- Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene (2012) (5)
- Thoracic extramedullary hematopoiesis in thalassemia intermedia during adult life: a report of 9 cases. (1981) (5)
- GΓ and AΓ globin chain synthesis in bone marrow and peripheral blood of β‐thalassaemia homozygotes (1982) (5)
- Why do humans need two types of transferrin receptor? Lessons from a rare genetic disorder. (2005) (4)
- A unique origin for Sicilian (delta beta) (0)-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. (1994) (4)
- Molecular characterization of Italian chromosomes carrying the Lepore Boston gene. (1989) (4)
- Hereditary hemochromatosis: Is the gene race over? (2004) (4)
- Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22) (1998) (4)
- Hunting the Hemochromatosis Gene: Progress and Problems (1994) (4)
- Molecular studies on sickle cell anemia in Sicily: preliminary results. (1984) (4)
- 1133 A TIME COURSE OF HEPCIDIN RESPONSE TO ORAL IRON CHALLENGE IN HFE AND TFR2 HEMOCHROMATOSIS PATIENTS (2010) (4)
- The homozygous state for the -87 C----G beta + thalassaemia. (1990) (4)
- Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity (1995) (4)
- Molecular characterization of hereditary persistence of fetal hemoglobin in a patient from Cuba [letter] (1990) (4)
- DMT1 mutations: mice and humans are not alike (2005) (4)
- A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. (1988) (4)
- Molecular characterization of thalassemia intermedia in Italy. (1987) (4)
- Clinical biochimical and molecular findings in a series of families with hyperferritinemia-cataract syndrome (2001) (4)
- Screening of beta-thalassemia mutations by PCR and ASO analysis in an Italian population of mixed geographic origin. (1990) (3)
- A frequent Aγ-persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with β-thalassemia (1988) (3)
- Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. (1993) (3)
- RFLPs of the phenylalanine hydroxylase gene in the Italian population (1989) (3)
- Mendelian inheritance of anemia due to disturbed iron homeostasis. (2021) (3)
- Review in translational hematology Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders (2005) (3)
- High Hb F levels in a Sardinian family: a genetic defect intermediate between HPFH Greek type and delta beta-thalassemia? (1982) (3)
- γ Chain Composition in Five Italian Newborns Heterozygous for Hb F Malta Gγ117 His → Arg (1980) (3)
- Haplotype distribution and molecular defects of PKU in Italy (1990) (3)
- Serum Hepcidin Levels Correlate with Phenotypes of the Metabolic Syndrome At Population Level (2011) (3)
- Iron deficiency in chronic myocarditis: Assessment and prognostic significance. (2021) (3)
- A frequent polymorphism in the 5' region of the BCMA gene. (1997) (3)
- [Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome]. (1995) (3)
- The association of HFE and TMPRSS6 genetic variants to iron and erythrocyte parameters is only in part dependent from serum hepcidin levels (2011) (2)
- [The aminoacid map from the abnormal peptide in the identification of Hb J Oxford (author's transl)]. (1975) (2)
- The natural history of hemochromatosis type 2. (2001) (2)
- A recombination event close to HFE gene in hereditary hemochromatosis. (1997) (2)
- Molecular and clinical studies in hemochromatosis type 2 and 3 (2000) (2)
- Is Tmprss6 Required for Hepcidin Inhibition By Erythroferrone (2014) (2)
- A new complex polymorphic repeat close to the HLA-A and HLA-E loci (1994) (2)
- The Val Borbera Project: epidemiological and genealogical analysis of an isolated population in Northern Italy (2006) (2)
- Heterogeneity of molecular defects underlying hereditary persistence of fetal hemoglobin in Mediterranean area. (1985) (2)
- Iron-Deficiency Anemia. (2015) (2)
- Screening of the C282Y mutation in the HFE gene in Italy by Taqman technology. (1999) (2)
- Composition of the γ-Chains of Human Fetal Hemoglobin at Birth and during Intrauterine Life (1979) (2)
- Molecular characterization and functional studies on Hb Kempsey, beta 99 (G-1) Asp----Asn, a high-oxygen affinity variant. (1992) (2)
- Molecular Basis of Phenylketonuria in Italy (1991) (2)
- Recent advances in diagnosis of hemoglobinopathies. (1993) (2)
- New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE) (1995) (2)
- The EHA Research Roadmap: Anemias (2021) (2)
- G gamma and A gamma globin chains separation and quantitation by isoelectric focusing. (1979) (2)
- How I Treat How I treat unexplained refractory iron de fi ciency anemia (2013) (2)
- Allelic association of microsatellites of 6p in Italian hemochromatosis patients (1996) (2)
- The Role Of Liver Endothelial Sinusoidal Cells In Iron-Mediated Bmp6 Regulation (2013) (2)
- Molecular characterization of hereditary persistence of fetal hemoglobin in a patient from Cuba. (1990) (2)
- The mutual crosstalk between iron and erythropoiesis (2022) (2)
- Hyperresponsiveness of plasma TSH to TRH and thyroid antibodies in postpubertal clinically euthyroid patients with thalassemia major (1987) (1)
- Iron Status Independently Associates With Bone Mineral Density At Population Level. Insights From The Val Borbera Study (2013) (1)
- Iron metabolism and hereditary hemochromatosis: An update (1994) (1)
- Non-HFE hemochromatosis: insights into regulation on iron metabolisms from novel iron loading disorders. (2000) (1)
- Thrombotic thrombocytopenic purpura successfully treated by plasma exchange: a report of two cases. (1983) (1)
- Deletion and non deletion hereditary persistence of fetal hemoglobin in Italy. (1990) (1)
- P087 Analysis of iron homeostasis and erythroid activity in a cohort of low-risk myelodysplastic patients (2009) (1)
- Biosynthetic studies and gamma-chain composition in the Greek type of hereditary persistence of fetal hemoglobin and in its association with beta-thalassemia. (1979) (1)
- Ha ras haplotypes differences between peripheral blood leukocytes and tumor tissue in human breast cancer (1987) (1)
- Chemotherapy of Advanced Non-Hodgkin Lymphomas: A Report of 35 Cases (1982) (1)
- Variation in the phenotypic expression of C282Y hemochromatosis in an Italian family. (1999) (1)
- Molecular diagnosis of A gamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis. (1990) (1)
- Targeting Transferrin Receptor 2: A Novel "Erythropoiesis-Stimulating Approach" in a Model of Anemia of Chronic Kidney Disease (2019) (1)
- Treating iron overload with hepcidin (2006) (1)
- A Novel Crosstalk Between Iron Homeostasis and mTOR Mediated By the Immunophilin FKBP12 (2016) (1)
- Mutations in transferrin receptor-2 in hemochromatosis type 3. (2000) (1)
- An ARG403GLN beta-myosin heavy chain gene mutation identified in an Italian family with hypertrophic cardiomyopathy; description of clinical features of the family members. (1997) (1)
- [Biochemical and clinical studies of 2 new Italian cases of Hb G-Ferrara heterozygosis]. (1979) (1)
- Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain. (1976) (1)
- A New Mutation Trans to I278T Cystathionine β-synthase Associated with Factor V Leiden Causes Mild Homocystinuria but Severe Vascular Disease (2001) (1)
- Mutations in the A gamma-globin promoter in hereditary persistence of fetal hemoglobin and delta beta zero-thalassemia. (1987) (1)
- The Immunophilin FKBP12 Inhibits Hepcidin By Modulating BMP Type I-Type II Receptors Interaction and Ligand Responsiveness (2019) (1)
- Genotype-Phenotype Studies in 70 Irida Patients (2016) (0)
- Hemochromatosis: The clinical impact of molecular genetics (1997) (0)
- Two polymorphic repeats in the candidate region for the haemochromatosis gene. (1996) (0)
- Molecular defects in two genetic disorders of iron recycling: aceruloplasminemia and hemochromatosis type 4 (2002) (0)
- Anemia and iron overload due to genetic defects of iron recycling, aceruloplasminemia and hemochromatosis type 4 (2002) (0)
- MICROCYTOSIS REVISITED: LESSON FROM MURINE MODELS (2007) (0)
- 3' C130X M172K Y250X Q317X L490R V561X ΔAVAQ Q690P (2005) (0)
- S148 TFR2-HAPLOINSUFFICIENCY ENHANCES THE BENEFICIAL EFFECT OF TMPRSS6-ANTISENSE OLIGONUCLEOTIDE TREATMENT IN BETA-THALASSEMIA MICE (2019) (0)
- the problem of the number of human alpha loci Interaction between Hb Hasharon and alpha-thalassemia: an approach to (2008) (0)
- Matriptase-2, A Novel Suppressor of Hepcidin. (2009) (0)
- [Nosological classification of sideropenic anemia]. (1987) (0)
- black HPFH 1 and 2 lie within 17 kilobases The 3' ends of the deletions of Spanish delta beta zero-thalassemia and (2013) (0)
- Between Anemia, Fecal Stercobilinogen, Erythrocyte Survival, and Globin Synthesis in Heterozygotes for f3-Thalassemia (2017) (0)
- S1628 TARGETING THE IMMUNOPHILIN FKBP12 BY DRUG REPURPOSING OR RNASE-BASED APPROACHES FOR BMP-SMAD PATHWAY AND HEPCIDIN UPREGULATION IN HEREDITARY HEMOCHROMATOSIS (2019) (0)
- Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis (2007) (0)
- Genetic/metabolic effect of iron metabolism and rare anemias (2013) (0)
- Molecular studies in delta beta thalassemia evidence for regulatory areas (1982) (0)
- Iron & disease (2018) (0)
- Targeting the BMP Receptor Inhibitor FKBP12 to Upregulate Hepcidin in Wild-Type and Hemojuvelin-Hemochromatosis Models (2019) (0)
- PB2037 CHANGES IN ERYTHROPOIESIS IN MALARIA-INDUCED ANEMIA (2019) (0)
- OXIDATIVE STRESS MODULATES HEME LEVELS and INDUCES PEROXIREDOXIN-2 IN β THALASSEMIC ERYTHROPOIESIS as NOVEL CYTOPROTECTIVE RESPONSE (2010) (0)
- 1 TIME COURSE OF HEPCIDIN RESPONSE TO ORAL IRON TEST CLARIFIES THE ROLE OF HFE AND TFR2 IN IRON SENSING (2010) (0)
- β-Thalassemic Syndromes As a Model for the Study of the Molecular Basis of Human Inherited Disease (1987) (0)
- β‐Myosin Mutations in Hypertrophic Cardiomyopathies a (1995) (0)
- Novel Insights Into Systemic Iron Regulation (2018) (0)
- substitution at position -196 of the A gamma globin gene promoter Sardinian delta beta zero-thalassemia: a further example of a C to T (2011) (0)
- hypoxia and iron homeostasis Furin-mediated release of soluble hemojuvelin: a new link between (2013) (0)
- Italy: a prerequisite for prenatal diagnosis Delineation of specific beta-thalassemia mutations in high-risk areas of (2011) (0)
- [Drepanocytic homozygosis with exceptionally long survival. Clinical case]. (1979) (0)
- 25. Expression of the erythroid-specific transcription factor GATA-1 in human myeloid leunkenic cells (1992) (0)
- Unraveling the Erythroid Function of Tfr2 in Beta-Thalassemia (2016) (0)
- S1627 THE HEMOCHROMATOSIS PROTEINS HJV AND TFR2 ARE DISPENSABLE FOR ACUTE BMP2-MEDIATED HEPCIDIN UPREGULATION IN MICE (2019) (0)
- Methods and probes for the diagnosis of hemochromatosis (2001) (0)
- Iron is a modifier of the phenotypes of JAK2-mutant myeloproliferative neoplasms. (2023) (0)
- Iron Homeostasis: Hepcidin Regulation (2013) (0)
- mutations: mice and humans are not alike DMT1 (2012) (0)
- Analysis of the γ Chains in a Homozygote for HPFH Negro Type and in Three Related Heterozygotes (1980) (0)
- antiserum polyclonal transferrin receptor-2 by murine monoclonal antibodies and a Structural, functional, and tissue distribution analysis of human (2013) (0)
- Analisis of HLA-H mutations in italian patients with genetic hemochromatosis: Evidence of genetic heterogeneity (1997) (0)
- Eliezer Rachmilewitz (1935–2017) (2018) (0)
- Comparison of 3 Tfr2- deficient murine models suggests distinct functions for Tfr2- (cid:1) and Tfr2- (cid:2) isoforms in different tissues (2010) (0)
- Rare Genetic Anemias Due to Defective Iron Recycling: Aceruloplasminemia and Type 4 Hemochromatosis (2003) (0)
- Comment on: PACE4 (PCSK6): another proprotein convertase linked to iron homeostasis? (2015) (0)
- IRON AND HYPOXIA LINK: DOWNREGULATION OF LUCIFERASE ACTIVITY OF HEPCIDIN PROMOTER BY HYPOXIC SERA IN HUH-7 CELLS (2013) (0)
- [Thyrotropin hyperresponsiveness and antithyroid antibodies in clinically euthyroid postpubertal thalassemic patients]. (1987) (0)
- University of Groningen A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function Porcu, (2013) (0)
- Table 2. [Selected TFR2 Allelic Variants]. (2011) (0)
- Simultaneous screening of known HFE and TFR2 mutations in blood donors selected for increaesd serum iron parameters. (2002) (0)
- Commentary: Juvenile hemochromatosis in a Spanish family (by Montes-Cano et al.). (2002) (0)
- HumanToy globin chainisavariant ofAychain(AoySardinia) (1979) (0)
- TFR2 BETA Isoform Is Differentially Produced Compared to ALFA and Has Specific Function at Young Age. (2008) (0)
- Inhibiting the Immunophilin FKBP12: A Potential Therapeutic Approach to Iron Overload/Low Hepcidin Disorders (2018) (0)
- Inactivation of Tmprss6 Hampers Hepcidin Inhibition By Erythroferrone through Upregulation of the BMP-SMAD Pathway (2015) (0)
- Meiotic recombination in the i globin gene cluster causing an error in prenatal diagnosis of f3 thalassaemia (2004) (0)
- Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy (1999) (0)
- No Malabsorption of Inorganic Ferrous Iron in Patients with Achylia gastrica (1979) (0)
- Molecular Characterization of P-Thalassemia Intermedia in Patients of Italian Descent and Identification of Three Novel P-Thalassemia Mutations (2003) (0)
- 115 Prognostic significance of iron deficiency status in chronic inflammatory cardiomyopathy (2021) (0)
- Beta-myosin mutations in hypertrophic cardiomyopathies. (1995) (0)
- G gamma and a gamma globin chain synthesis in bone marrow and peripheral blood of beta-thalassaemia homozygotes. (1982) (0)
- of Fetal Hemoglobin (2017) (0)
- Method and probes for genetic diagnosis of hemochromatosis. (2001) (0)
- Fetal diagnosis of beta-thalassaemia by DNA analysis in Italy. (1986) (0)
- Microcytic anemia with liver iron overload (2020) (0)
- Eliezer Rachmilewitz (1935–2017) (2018) (0)
- Iron induces ferroptosis and synergizes with anti-androgen therapy in prostate cancer pre-clinical models (2019) (0)
- Uniparental Disomy and Gene Localization (2006) (0)
- Comparison of clinical expression of type 2 (juvenile) and type 3 hemochromatosis. RID B-1183-2008 (2002) (0)
- Interaction Between Hb Hasharon and a-Thalassemia : An Approach to the Problem of the Number ofHuman a Loci (2005) (0)
- [Unusual pathological hemoglobins: Hb unstable, hemoglobins with altered oxygen affinity and Hb M]. (1974) (0)
- Exploring the Mechanisms of Thalassemic Erythropoiesis Improvement Caused By Bone Marrow Tfr2 Deletion (2018) (0)
- FROM THE EUROPEAN HEMATOLOGY ASSOCIATION SCIENTIFIC WORKING GROUP ( EHA-SWG ) SCIENTIFIC MEETING ON ANAEMIAS : DIAGNOSIS AND TREATMENT IN THE OMICS ERA (2018) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in TFR2-Related Hereditary Hemochromatosis]. (2011) (0)
- Figure 1. [Schematic representation of the localization...]. (2011) (0)
- survival, and globin synthesis in heterozygotes for beta-thalassemia The relationship between anemia, fecal stercobilinogen, erythrocyte (2011) (0)
- PF369 EXPLOITING IRON TOXICITY TO INCREASE VULNERABILITY OF MALIGNANT B CELLS (2019) (0)
- Molecular Pathogenesis of Hemochromatosis (1996) (0)
- A new deletion in the beta globin gene cluster associated with high fetal hemoglobin production. (1989) (0)
- Difetti Ereditari del Metabolismo del Ferro (2003) (0)
- Analysis of the gamma chains in a homozygote for HPFH Negro type and in three related heterozygotes. (1980) (0)
This paper list is powered by the following services:
What Schools Are Affiliated With Clara Camaschella?
Clara Camaschella is affiliated with the following schools:
