1. |
Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. |
Abraham BK, etal., Cancer Epidemiol Biomarkers Prev. 2005 May;14(5):1102-7.
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2. |
HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease. |
Andrikovics H, etal., Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):929-34. doi: 10.1158/1055-9965.EPI-08-0359. Epub 2009 Mar 3.
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3. |
Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. |
Barton JC, etal., Blood Cells Mol Dis. 2003 Jul-Aug;31(1):102-11.
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4. |
Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. |
Barton JC, etal., Blood Cells Mol Dis. 2003 Nov-Dec;31(3):310-9.
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5. |
Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. |
Beckman LE, etal., Carcinogenesis. 1999 Jul;20(7):1231-3.
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6. |
Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma. |
Bugianesi E, etal., Gastroenterology. 2002 Jul;123(1):134-40.
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7. |
Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy. |
Candore G, etal., Blood Cells Mol Dis. 2003 Jul-Aug;31(1):57-62.
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8. |
Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications. |
Colli ML, etal., J Diabetes Complications. 2011 Jan-Feb;25(1):25-30. doi: 10.1016/j.jdiacomp.2009.12.002. Epub 2010 Jan 25.
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9. |
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. |
Cribier B, etal., Dermatology. 2009;218(1):15-21. doi: 10.1159/000173696. Epub 2008 Nov 12.
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10. |
An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia. |
Davis CF and Dorak MT, Ann Hematol. 2010 Apr;89(4):375-84. doi: 10.1007/s00277-009-0839-y. Epub 2009 Oct 6.
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11. |
The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease. |
De Falco L, etal., Am J Hematol. 2018 Mar;93(3):383-393. doi: 10.1002/ajh.24991. Epub 2017 Dec 18.
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12. |
Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis. |
Dongiovanni P, etal., Am J Pathol. 2010 Feb;176(2):1006-17. Epub 2009 Dec 17.
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13. |
The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. |
Dorak MT, etal., Blood. 1999 Dec 1;94(11):3957.
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14. |
Decreased Bone Formation Explains Osteoporosis in a Genetic Mouse Model of Hemochromatosiss. |
Doyard M, etal., PLoS One. 2016 Feb 1;11(2):e0148292. doi: 10.1371/journal.pone.0148292. eCollection 2016.
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15. |
Clinical characteristics of type 2 diabetes in patients with mutations of HFE. |
Dubois-Laforgue D, etal., Diabetes Metab. 2000 Feb;26(1):65-8.
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16. |
Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia. |
ElAoud S, etal., Med Princ Pract. 2017;26(5):427-432. doi: 10.1159/000481782. Epub 2017 Sep 26.
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17. |
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. |
Farrell CP, etal., PLoS One. 2016 Sep 23;11(9):e0163322. doi: 10.1371/journal.pone.0163322. eCollection 2016.
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18. |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. |
Feder JN, etal., Nat Genet. 1996 Aug;13(4):399-408.
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19. |
Liver HFE protein content is posttranscriptionally decreased in iron-deficient mice and rats. |
Frýdlová J, etal., Am J Physiol Gastrointest Liver Physiol. 2018 Oct 1;315(4):G560-G568. doi: 10.1152/ajpgi.00070.2018. Epub 2018 Jun 21.
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20. |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. |
Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
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21. |
Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. |
George DK, etal., Gastroenterology. 1998 Feb;114(2):311-8.
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22. |
Absence of iron-regulatory protein Hfe results in hyperproliferation of retinal pigment epithelium: role of cystine/glutamate exchanger. |
Gnana-Prakasam JP, etal., Biochem J. 2009 Nov 11;424(2):243-52. doi: 10.1042/BJ20090424.
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23. |
Structure and liver cell expression pattern of the HFE gene in the rat. |
Holmstrom P, etal., J Hepatol 2003 Sep;39(3):308-14.
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24. |
Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients. |
Jazayeri M, etal., Eur J Haematol. 2003 Dec;71(6):408-11.
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25. |
Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population. |
JuzÄ—nas S, etal., Medicina (Kaunas). 2016;52(5):269-275. doi: 10.1016/j.medici.2016.09.004. Epub 2016 Oct 3.
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26. |
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. |
Kallianpur AR, etal., Bone Marrow Transplant. 2005 Jun;35(12):1155-64.
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27. |
Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer. |
Kallianpur AR, etal., Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):205-12.
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28. |
Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers. |
Kondrashova TV, etal., Biochim Biophys Acta. 2006 Jan;1762(1):59-65. Epub 2005 Sep 23.
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29. |
Hemochromatosis gene (HFE) polymorphisms are not associated with peripheral arterial disease. |
Koppel H, etal., Thromb Haemost. 2004 Jun;91(6):1258-9.
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30. |
Long-term sequelae of HFE deletion in C57BL/6 x 129/O1a mice, an animal model for hereditary haemochromatosis. |
Lebeau A, etal., Eur J Clin Invest. 2002 Aug;32(8):603-12.
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31. |
Transcriptome Analysis of Acute Phase Liver Graft Injury in Liver Transplantation. |
Lee NP, etal., Biomedicines. 2018 Apr 6;6(2). pii: biomedicines6020041. doi: 10.3390/biomedicines6020041.
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32. |
Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia. |
Lipshultz SE, etal., Cancer. 2013 Oct 1;119(19):3555-62. doi: 10.1002/cncr.28256. Epub 2013 Jul 16.
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33. |
Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. |
Mahon NG, etal., Heart. 2000 Nov;84(5):541-7.
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34. |
Nonalcoholic fatty liver disease: a feature of the metabolic syndrome. |
Marchesini G, etal., Diabetes. 2001 Aug;50(8):1844-50.
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35. |
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. |
Melis MA, etal., Haematologica. 2002 Mar;87(3):242-5.
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36. |
Rat ISS GO annotations from MGI mouse gene data--August 2006 |
MGD data from the GO Consortium
|
37. |
Changes in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the rat. |
Millard KN, etal., Gut. 2004 May;53(5):655-60.
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38. |
Iron-regulatory gene expression during liver regeneration. |
Mollbrink A, etal., Scand J Gastroenterol. 2012 May;47(5):591-600. doi: 10.3109/00365521.2012.661761. Epub 2012 Feb 27.
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39. |
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. |
Mura C, etal., Blood. 1999 Apr 15;93(8):2502-5.
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40. |
Ferroportin-1 is a 'nuclear'-negative acute-phase protein in rat liver: a comparison with other iron-transport proteins. |
Naz N, etal., Lab Invest. 2012 Jun;92(6):842-56. doi: 10.1038/labinvest.2012.52.
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41. |
Electronic Transfer of LocusLink and RefSeq Data |
NCBI rat LocusLink and RefSeq merged data July 26, 2002
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42. |
Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts. |
Nearman ZP, etal., Am J Hematol. 2007 Dec;82(12):1076-9.
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43. |
The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. |
Oliva R, etal., Endocrine. 2004 Jul;24(2):111-4.
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44. |
HFE gene mutations in Brazilian thalassemic patients. |
Oliveira TM, etal., Braz J Med Biol Res. 2006 Dec;39(12):1575-80.
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45. |
OMIM Disease Annotation Pipeline |
OMIM Disease Annotation Pipeline
|
46. |
Hemochromatosis gene variants in patients with cardiomyopathy. |
Pereira AC, etal., Am J Cardiol. 2001 Aug 15;88(4):388-91.
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47. |
A mouse model of familial porphyria cutanea tarda. |
Phillips JD, etal., Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):259-64.
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48. |
Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. |
Pilling LC, etal., BMJ. 2019 Jan 16;364:k5222. doi: 10.1136/bmj.k5222.
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49. |
[Mutations in the HFE gene in patients with rheumatic diseases]. |
Putova I, etal., Cas Lek Cesk. 2005;144(6):391-7; discussion 397-8.
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50. |
Transferrin Level Before Treatment and Genetic Polymorphism in HFE Gene as Predictive Markers for Response to Adalimumab in Crohn's Disease Patients. |
Repnik K, etal., Biochem Genet. 2016 Aug;54(4):476-486. doi: 10.1007/s10528-016-9734-0. Epub 2016 Apr 26.
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51. |
GOA pipeline |
RGD automated data pipeline
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52. |
ClinVar Automated Import and Annotation Pipeline |
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
|
53. |
Data Import for Chemical-Gene Interactions |
RGD automated import pipeline for gene-chemical interactions
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54. |
Comprehensive gene review and curation |
RGD comprehensive gene curation
|
55. |
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. |
Robson KJ, etal., J Med Genet 2004 Apr;41(4):261-5.
|
56. |
The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. |
Roy CN, etal., J Biol Chem 1999 Mar 26;274(13):9022-8.
|
57. |
Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions. |
Sanchez M, etal., Gene 1998 Dec 28;225(1-2):77-87.
|
58. |
Glutathione S-transferase (GST) polymorphisms as risk factors for cancer in a highly homogeneous population from southern Italy. |
Sgambato A, etal., Anticancer Res. 2002 Nov-Dec;22(6B):3647-52.
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59. |
Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis. |
Smith DJ, etal., Gene. 2019 Jan 30;683:12-17. doi: 10.1016/j.gene.2018.10.002. Epub 2018 Oct 3.
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60. |
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
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61. |
Iron overload exacerbates age-associated cardiac hypertrophy in a mouse model of hemochromatosis. |
Sukumaran A, etal., Sci Rep. 2017 Jul 18;7(1):5756. doi: 10.1038/s41598-017-05810-2.
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62. |
Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography. |
Surber R, etal., J Med Genet. 2003 May;40(5):e58.
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63. |
Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants. |
Tamosauskaite J, etal., J Gerontol A Biol Sci Med Sci. 2019 Feb 15;74(3):337-342. doi: 10.1093/gerona/gly270.
|
64. |
The C282Y mutation of the HFE gene is not found in Chinese haemochromatotic patients: multicentre retrospective study. |
Tsui WM, etal., Hong Kong Med J. 2000 Jun;6(2):153-8.
|
65. |
Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland. |
Tuomainen TP, etal., Circulation. 1999 Sep 21;100(12):1274-9.
|
66. |
High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients. |
Varkonyi J, etal., Acta Haematol. 2003;109(2):64-7.
|
67. |
HFE gene mutations in patients with acute leukemia. |
Viola A, etal., Leuk Lymphoma. 2006 Nov;47(11):2331-4.
|
68. |
Haemochromatosis protein is expressed on the terminal web of enterocytes in proximal small intestine of the rat. |
West AR, etal., Histochem Cell Biol. 2006 Mar;125(3):283-92. Epub 2005 Oct 6.
|
69. |
[Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. |
Wolff CF, etal., Medicina (B Aires). 2006;66(5):421-6.
|
70. |
Hepatic macrophage iron aggravates experimental alcoholic steatohepatitis. |
Xiong S, etal., Am J Physiol Gastrointest Liver Physiol. 2008 Sep;295(3):G512-21. doi: 10.1152/ajpgi.90327.2008. Epub 2008 Jul 3.
|
71. |
The effect of iron status on vascular health. |
Yunker LM, etal., Vasc Med. 2006 May;11(2):85-91.
|
72. |
The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis. |
Zamboni P, etal., Free Radic Biol Med. 2006 May 15;40(10):1869-73. Epub 2006 Feb 14.
|
73. |
Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration. |
Zamboni P, etal., J Vasc Surg. 2005 Aug;42(2):309-14.
|
74. |
Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes. |
Zhang AS, etal., Blood 2004 Feb 15;103(4):1509-14. Epub 2003 Oct 16.
|