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1992 1
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Page 1
TFR2-Related Hemochromatosis.
De Gobbi M, Roetto A. De Gobbi M, et al. 2005 Aug 29 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Aug 29 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301523 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: TFR2-related hemochromatosis (TFR2-HC) is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrine organs. ...Once the TFR2 pathogenic variants have been identi …
CLINICAL CHARACTERISTICS: TFR2-related hemochromatosis (TFR2-HC) is characterized by increased intestinal iron absorption resu …
TFR2 regulates ferroptosis and enhances temozolomide chemo-sensitization in gliomas.
Tong S, Hong Y, Xu Y, Sun Q, Ye L, Cai J, Ye Z, Chen Q, Tian D. Tong S, et al. Exp Cell Res. 2023 Mar 1;424(1):113474. doi: 10.1016/j.yexcr.2023.113474. Epub 2023 Jan 23. Exp Cell Res. 2023. PMID: 36702193 Free article. Review.
Iron entry into the cell is promoted by binding the transferrin receptor 2 (TFR2) to the iron-transferrin complex. This study was designed to assess the association between TFR2 and ferroptosis in glioma. ...We found that Low TFR2 expression predicted a bette …
Iron entry into the cell is promoted by binding the transferrin receptor 2 (TFR2) to the iron-transferrin complex. This study was des …
Haemochromatosis.
Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loréal O. Brissot P, et al. Nat Rev Dis Primers. 2018 Apr 5;4:18016. doi: 10.1038/nrdp.2018.16. Nat Rev Dis Primers. 2018. PMID: 29620054 Free PMC article. Review.
Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer. Mutations in SLC40A1 (also known as FPN1; encoding ferroportin) that prevent hepcidin-ferroportin binding also cause haemochromatosis. ...
Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer. Mutations in SLC40A1 (also known as FPN1; enc …
Transferrin and transferrin receptors update.
Kawabata H. Kawabata H. Free Radic Biol Med. 2019 Mar;133:46-54. doi: 10.1016/j.freeradbiomed.2018.06.037. Epub 2018 Jun 30. Free Radic Biol Med. 2019. PMID: 29969719 Review.
Defects in TfR2 cause systemic iron overload, hemochromatosis, through down-regulation of hepcidin. In erythroid cells, TfR2 forms a complex with the erythropoietin receptor and regulates erythropoiesis. ...
Defects in TfR2 cause systemic iron overload, hemochromatosis, through down-regulation of hepcidin. In erythroid cells, TfR2 f …
The extrahepatic role of TFR2 in iron homeostasis.
Silvestri L, Nai A, Pagani A, Camaschella C. Silvestri L, et al. Front Pharmacol. 2014 May 7;5:93. doi: 10.3389/fphar.2014.00093. eCollection 2014. Front Pharmacol. 2014. PMID: 24847265 Free PMC article. Review.
However, Tfr2 null mice as well as TFR2 hemochromatosis patients do not show defective erythropoiesis and tolerate repeated phlebotomy. The iron deficient Tfr2-Tmprss6 double knock out mice have higher red cells count and more severe microcytosis than the liv …
However, Tfr2 null mice as well as TFR2 hemochromatosis patients do not show defective erythropoiesis and tolerate repeated ph …
Tfr2 suppression benefits beta-thalassemic erythropoiesis.
Ginzburg YZ, Fleming RE. Ginzburg YZ, et al. Blood. 2018 Nov 22;132(21):2215-2216. doi: 10.1182/blood-2018-10-876110. Blood. 2018. PMID: 30467188 Free PMC article.
In this issue of Blood, Artuso et al demonstrate that erythroid knockout of transferrin receptor 2 (Tfr2) also improves hematologic parameters in beta-thalassemic mice. ...
In this issue of Blood, Artuso et al demonstrate that erythroid knockout of transferrin receptor 2 (Tfr2) also improves hematologic p …
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.
Pietrangelo A. Pietrangelo A. Gastroenterology. 2010 Aug;139(2):393-408, 408.e1-2. doi: 10.1053/j.gastro.2010.06.013. Epub 2010 Jun 11. Gastroenterology. 2010. PMID: 20542038 Review.
In mice, deletion of the iron hormone hepcidin and any of 8 genes that regulate its biology, including Hfe, transferrin receptor 2 (Tfr2), and hemojuvelin (Hjv) (which all sense the accumulation of iron that hepcidin corrects) or ferroportin (Fpn) (the cellular iron export …
In mice, deletion of the iron hormone hepcidin and any of 8 genes that regulate its biology, including Hfe, transferrin receptor 2 (Tfr2 …
Haemochromatosis revisited.
Alvarenga AM, Brissot P, Santos PCJL. Alvarenga AM, et al. World J Hepatol. 2022 Nov 27;14(11):1931-1939. doi: 10.4254/wjh.v14.i11.1931. World J Hepatol. 2022. PMID: 36483608 Free PMC article. Review.
However, rare cases of haemochromatosis (non-HFE haemochromatosis) can also be caused by pathogenic variants in other genes (such as HJV, HAMP, TFR2 and SLC40A1). A working group of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society) h …
However, rare cases of haemochromatosis (non-HFE haemochromatosis) can also be caused by pathogenic variants in other genes (such as HJV, HA …
Transferrin receptor 2 (Tfr2) genetic deletion makes transfusion-independent a murine model of transfusion-dependent beta-thalassemia.
Di Modica SM, Tanzi E, Olivari V, Lidonnici MR, Pettinato M, Pagani A, Tiboni F, Furiosi V, Silvestri L, Ferrari G, Rivella S, Nai A. Di Modica SM, et al. Am J Hematol. 2022 Oct;97(10):1324-1336. doi: 10.1002/ajh.26673. Epub 2022 Aug 10. Am J Hematol. 2022. PMID: 36071579 Free PMC article.
However, whether Tfr2 targeting might represent a therapeutic option for TDT has never been investigated so far. ...Altogether, TFR2 targeting might represent a promising therapeutic option also for TDT....
However, whether Tfr2 targeting might represent a therapeutic option for TDT has never been investigated so far. ...Altogether, TF …
Hemochromatoses.
Brissot P, Loréal O. Brissot P, et al. J Hepatol. 2021 Sep;75(3):723-724. doi: 10.1016/j.jhep.2021.04.001. Epub 2021 Jul 11. J Hepatol. 2021. PMID: 34261579 No abstract available.
545 results