The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

By C. Camaschella, A. Roetto, A. Calı̀, M. Gobbi, G. Garozzo, M. Carella, N. Majorano, A. Totaro, P. Gasparini. Nature Genetics, 2000

845 citations recorded by the source corpus.

Subfields: Genetics, Hematology, Nutrition and Dietetics

View Paper: https://www.semanticscholar.org/paper/fdf2fe02bfc772da0fb8882c02b0b5e7e97c7fca

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Laura Silvestri
2. A. Nai
3. G. Papanikolaou
4. Leonard I. Zon
5. Kostas Pantopoulos
6. C. Camaschella
7. T. Ganz

In Hematology

1. T. Ganz
2. Laura Silvestri
3. A. Nai
4. G. Papanikolaou
5. Leonard I. Zon
6. Kostas Pantopoulos
7. C. Camaschella

In Nutrition and Dietetics

1. Laura Silvestri
2. A. Nai
3. G. Papanikolaou
4. Kostas Pantopoulos
5. C. Camaschella
6. T. Ganz

Citations in the corpus

• Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases (2011, background): “Mutations in the TfR2 gene produce an autosomal recessive form of HH that is clinically similar to HFE-related HH.(16) These mutations may cause abnormal iron sensing by hepatocytes, which is the predominant site of TfR2 expression.”
• The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. (2005, background): “Homozygous mutations in any of four genes (HFE, TFR2, hepcidin, and HJV) result in similar phenotypes of varying severity (Camaschella et al., 2000; Feder et al., 1996; Papanikolaou et al., 2004; Roetto et al., 2003).”
• Iron metabolism and toxicity. (2005, background): “In a small subset of patients with a clinical phenotype indistinguishable from that in HFE-related HH, iron overload is linked to mutations in the TfR2 gene (Camaschella et al., 2000).”
• Non-transferrin bound iron: a key role in iron overload and iron toxicity. (2012, positive): “In fact, its role in transferrin–iron and/or NTBI uptake is very limited since i) its affinity for diferric transferrin is 25–30 fold lower than TfR1, and ii) hemochromatosis develops in humanswith Tfr2mutations [46] and in mice in which the TfR2 gene has been deleted [47].”
• Iron metabolism and iron disorders revisited in the hepcidin era (2020, positive): “Liver TFR2 upregulates hepcidin and TFR2mutations cause hemochromatosis.(69) As a sensor of iron-bound transferrin, erythroid TFR2 regulates erythropoiesis, while liver TFR2, controlling hepcidin, modulates iron acquisition according to erythropoietic needs.”
• Targeted Drug Delivery via the Transferrin Receptor-Mediated Endocytosis Pathway (2002, background): “Mutations in TfR2 have been identified as the cause of a form of hemochromatosis that is not linked to the mutation of HFE (Camaschella et al., 2000; Roetto et al., 2001), which suggests that TfR2 is associated with iron overload and offers a tool for molecular diagnosis of non-HFE related…”