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1975 1
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2008 27
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499 results

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Page 1
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.
The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer. Mutations in SLC40A …
The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary …
HJV and HFE Play Distinct Roles in Regulating Hepcidin.
Wu Q, Wang H, An P, Tao Y, Deng J, Zhang Z, Shen Y, Chen C, Min J, Wang F. Wu Q, et al. Antioxid Redox Signal. 2015 May 20;22(15):1325-36. doi: 10.1089/ars.2013.5819. Epub 2015 Mar 19. Antioxid Redox Signal. 2015. PMID: 25608116 Free PMC article.
Recently, some HH patients have been reported to carry concurrent mutations in both the HFE and HJV genes. To dissect the roles and molecular mechanisms of HFE and/or HJV in the pathogenesis of HH, we studied Hfe(-/-), Hjv(-/-), and Hfe(-/-)Hjv(-/-) do …
Recently, some HH patients have been reported to carry concurrent mutations in both the HFE and HJV genes. To dissect the roles and m …
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), a …
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 …
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
Hamdi-Rozé H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E. Hamdi-Rozé H, et al. Blood Cells Mol Dis. 2019 Feb;74:30-33. doi: 10.1016/j.bcmd.2018.10.006. Epub 2018 Oct 22. Blood Cells Mol Dis. 2019. PMID: 30389309 Free article.
Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome and for whom HJV hemochromatosis was finally diagnosed. 662 patients with iron overload and high serum transferrin saturation …
Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency s …
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.
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P. Thompson RJ, et al. Lancet Gastroenterol Hepatol. 2022 Sep;7(9):830-842. doi: 10.1016/S2468-1253(22)00093-0. Epub 2022 Jul 1. Lancet Gastroenterol Hepatol. 2022. PMID: 35780807 Free article. Clinical Trial.
Characterization of ferroptosis in murine models of hemochromatosis.
Wang H, An P, Xie E, Wu Q, Fang X, Gao H, Zhang Z, Li Y, Wang X, Zhang J, Li G, Yang L, Liu W, Min J, Wang F. Wang H, et al. Hepatology. 2017 Aug;66(2):449-465. doi: 10.1002/hep.29117. Epub 2017 May 16. Hepatology. 2017. PMID: 28195347 Free PMC article.
We found that ferroptosis occurred in mice fed a high-iron diet and in two knockout mouse lines that develop severe iron overload (Hjv(-/-) and Smad4(Alb/Alb) mice) but not in a third line that develops only mild iron overload (Hfe(-/-) mice). ...
We found that ferroptosis occurred in mice fed a high-iron diet and in two knockout mouse lines that develop severe iron overload (Hjv …
Hfe and Hjv exhibit overlapping functions for iron signaling to hepcidin.
Kent P, Wilkinson N, Constante M, Fillebeen C, Gkouvatsos K, Wagner J, Buffler M, Becker C, Schümann K, Santos MM, Pantopoulos K. Kent P, et al. J Mol Med (Berl). 2015 May;93(5):489-98. doi: 10.1007/s00109-015-1253-7. Epub 2015 Jan 23. J Mol Med (Berl). 2015. PMID: 25609138
We investigated the pathophysiological implications of combined Hfe and Hjv ablation in mice. Isogenic Hfe (-)/(-) and Hjv (-)/(-) mice were crossed to generate double Hfe (-)/(-) Hjv (-)/(-) progeny. ...KEY MESSAGES: Combined disruption of Hfe and Hjv …
We investigated the pathophysiological implications of combined Hfe and Hjv ablation in mice. Isogenic Hfe (-)/(-) and Hjv (-) …
499 results