McDonald CJ, Wallace DF, Crawford DH, Subramaniam VN. Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations. J Gastroenterol Hepatol. 2013;28:1087–1094

Article  CAS  Google Scholar 

Lv T, Zhang W, Xu A, Li Y, Zhou D, Zhang B, et al. Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants. J Med Genet. 2018;55:650–660

Article  CAS  Google Scholar 

Zhang W, Xu A, Li Y, Zhao S, Zhou D, Wu L, et al. A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: a recurrent cause of haemochromatosis in China. Liver Int. 2019;39:1120–1127

Article  CAS  Google Scholar 

Wu L, Zhang W, Li Y, Zhou D, Zhang B, Xu A, et al. Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China. Orphanet J Rare Dis. 2021;16:398

Article  Google Scholar 

Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD. Identification of a novel mutation (C321X) in HJV. Blood. 2004;104:2176–2177

Article  CAS  Google Scholar 

Koyama C, Hayashi H, Wakusawa S, Ueno T, Yano M, Katano Y, et al. Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. J Hepatol. 2005;43:740–742

Article  CAS  Google Scholar 

Nagayoshi Y, Nakayama M, Suzuki S, Hokamaki J, Shimomura H, Tsujita K, et al. A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis. Eur J Heart Fail. 2008;10:1001–1006

Article  CAS  Google Scholar 

Santos PC, Cancado RD, Pereira AC, Schettert IT, Soares RA, Pagliusi RA, et al. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients. Blood Cells Mol Dis. 2011;46:302–307

Article  CAS  Google Scholar 

Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood. 2002;100:692–694

Article  CAS  Google Scholar 

Xu J, McPherson PS. Regulation of DENND3, the exchange factor for the small GTPase Rab12 through an intramolecular interaction. J Biol Chem. 2017;292:7274–7282

Article  CAS  Google Scholar 

Zhang D, Iyer LM, He F, Aravind L. Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front Genet. 2012;3:283

Article  Google Scholar 

Matsui T, Noguchi K, Fukuda M. Dennd3 functions as a guanine nucleotide exchange factor for small GTPase Rab12 in mouse embryonic fibroblasts. J Biol Chem. 2014;289:13986–13995

Article  CAS  Google Scholar 

Matsui T, Itoh T, Fukuda M. Small GTPase Rab12 regulates constitutive degradation of transferrin receptor. Traffic. 2011;12:1432–1443

Article  CAS  Google Scholar 

Matsui T, Fukuda M. Small GTPase Rab12 regulates transferrin receptor degradation: implications for a novel membrane trafficking pathway from recycling endosomes to lysosomes. Cell Logist. 2011;1:155–158

Article  Google Scholar 

Kawabata H. Transferrin and transferrin receptors update. Free Radic Biol Med. 2019;133:46–54

Article  CAS  Google Scholar 

Wallace DF, Summerville L, Crampton EM, Frazer DM, Anderson GJ, Subramaniam VN. Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload. Hepatology. 2009;50:1992–2000

Article  CAS  Google Scholar 

Corradini E, Rozier M, Meynard D, Odhiambo A, Lin HY, Feng Q, et al. Iron regulation of hepcidin despite attenuated Smad 1,5,8 signaling in mice without transferrin receptor 2 or Hfe. Gastroenterology. 2011;141:1907–1914

Article  CAS  Google Scholar 

Poli M, Luscieti S, Gandini V, Maccarinelli F, Finazzi D, Silvestri L, et al. Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signalling. Implications for transferrin-dependent hepcidin regulation. Haematologica. 2010;95:1832–1840

Article  CAS  Google Scholar 

Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS, American Association for the Study of Liver D. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328–343

Article  Google Scholar 

Wang Y, Hong Y, Li M, Long J, Zhao YP, Zhang JX, et al. Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma. PLoS ONE. 2013;8:e82426

Article  Google Scholar 

Rishi G, Secondes ES, Nathan SV. Hemochromatosis: evaluation of the dietary iron model and regulation of hepcidin. Biochim Biophys Acta Mol Basis Dis. 2018;1864:2550–2556

Article  CAS  Google Scholar 

Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loreal O. Haemochromatosis. Nat Rev Dis Primers. 2018;4:18016

Article  Google Scholar 

Lee PL, Halloran C, West C, Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol Dis. 2001;27:285–289

Article  CAS  Google Scholar 

Zhang X, Zhang J, Bauer A, Zhang L, Selinger DW, Lu CX, et al. Fine-tuning BMP7 signalling in adipogenesis by UBE2O/E2-230K-mediated monoubiquitination of SMAD6. EMBO J. 2013;32:996–1007

Article  Google Scholar 

Schwienbacher C, Serafin A, Zanon A, Pramstaller PP, Pichler I, Hicks AA. Involvement of proprotein convertase PCSK7 in the regulation of systemic iron homeostasis. Hepatology. 2013;58:1860–1861

Article  CAS  Google Scholar 

Sviderskiy VO, Blumenberg L, Gorodetsky E, Karakousi TR, Hirsh N, Alvarez SW, et al. Hyperactive CDK2 activity in basal-like breast cancer imposes a genome integrity liability that can be exploited by targeting DNA polymerase epsilon. Mol Cell. 2020;80:682-698 e687

Article  CAS  Google Scholar 

Zhang W, Li Y, Xu A, Ouyang Q, Wu L, Zhou D, et al. Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis. Orphanet J Rare Dis. 2022;17:216

Article  Google Scholar 

Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, De Bernardo C, et al. TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. Blood Cells Mol Dis. 2014;52:83–87

Article  CAS  Google Scholar 

Wang CY, Xiao X, Bayer A, Xu Y, Dev S, Canali S, et al. Ablation of hepatocyte Smad1, Smad5, and Smad8 causes severe tissue iron loading and liver fibrosis in mice. Hepatology. 2019;70:1986–2002

Article  CAS  Google Scholar