Die Hämochromatose 5 ist eine autosomal rezessive Eisenspeicherkrankheit, die durch Mutationen im FTH1-Gen hervorgerufen wird.
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1. |
de Sousa M et al. (1994) Iron overload in beta 2-microglobulin-deficient mice. ![]() |
2. |
Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. ![]() |
3. |
Hentze MW et al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene. ![]() |
4. |
Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes. ![]() |
5. |
Kato J et al. (2001) A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. ![]() |
6. |
Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. ![]() |
7. |
Halsall DJ et al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study. ![]() |
8. |
Simon M et al. (1977) Heredity of idiopathic haemochromatosis. ![]() |
9. |
Halliday JW et al. (1977) Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families. ![]() |
10. |
Cox TM et al. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis. ![]() |
11. |
Sargent T et al. (1979) Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes. ![]() |
12. |
Feller ER et al. (1977) Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease. ![]() |
13. |
Beaumont C et al. (1979) Serum ferritin as a possible marker of the hemochromatosis allele. ![]() |
14. |
Cartwright GE et al. (1979) Hereditary hemochromatosis. Phenotypic expression of the disease. ![]() |
15. |
None (1979) Genetic linkage and hemosiderosis. ![]() |
16. |
Kravitz K et al. (1979) Genetic linkage between hereditary hemochromatosis and HLA. ![]() |
17. |
Walsh CH et al. (1978) Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. ![]() |
18. |
Lipinski M et al. (1978) Idiopathic hemochromatosis: linkage with HLA. ![]() |
19. |
Kühnl P et al. (1978) HLA antigens in patients with idiopathic hemochromatosis (IH). ![]() |
20. |
Cartwright GE et al. (1978) Inheritance of hemochromatosis: linkage to HLA. ![]() |
21. |
Lamon JM et al. (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. ![]() |
22. |
None (1979) Clinical conferences at The Johns Hopkins Hospital. Familial hemochromatosis. ![]() |
23. |
Simon M et al. (1977) Heredity of idiopathic haemochromatosis: a study of 106 families. ![]() |
24. |
Edwards CQ et al. (1977) Hereditary hemochromatosis. Diagnosis in siblings and children. ![]() |
25. |
Rowe JW et al. (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred. ![]() |
26. |
Simon M et al. (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. ![]() |
27. |
Wands JR et al. (1976) Normal serum ferritin concentrations in precirrhotic hemochromatosis. ![]() |
28. |
Simon M et al. (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. ![]() |
29. |
Boretto J et al. (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis. ![]() |
30. |
Yaouanq J et al. (1992) Familial screening for genetic haemochromatosis by means of DNA markers. ![]() |
31. |
Kaikov Y et al. (1992) Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature. ![]() |
32. |
Rabinovitz M et al. (1992) Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis. ![]() |
33. |
Milman N et al. (1992) An HLA study in 74 Danish haemochromatosis patients and in 21 of their families. ![]() |
34. |
Zappone E et al. (1991) Polymorphism in a ferritin H gene from chromosome 6p. ![]() |
35. |
None (1992) Intrafamilial variation in hereditary hemochromatosis. ![]() |
36. |
Milman N et al. (1992) Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects. ![]() |
37. |
Summers KM et al. (1991) Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis. ![]() |
38. |
Dokal I et al. (1991) Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus. ![]() |
39. |
Bullen JJ et al. (1991) Hemochromatosis, iron and septicemia caused by Vibrio vulnificus. ![]() |
40. |
None (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. ![]() |
41. |
Jouanolle AM et al. (1990) HLA class I gene polymorphism in genetic hemochromatosis. ![]() |
42. |
Worwood M et al. (1991) Hereditary haemochromatosis and blood donation. ![]() |
43. |
Lord DK et al. (1990) Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis. ![]() |
44. |
Dugast IJ et al. (1990) Identification of two human ferritin H genes on the short arm of chromosome 6. ![]() |
45. |
Leggett BA et al. (1990) Prevalence of haemochromatosis amongst asymptomatic Australians. ![]() |
46. |
Borecki IB et al. (1990) Percent transferrin saturation in segregating hemochromatosis. ![]() |
47. |
Milman N et al. (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands. ![]() |
48. |
Borecki IB et al. (1990) Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA. ![]() |
49. |
David V et al. (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis. ![]() |
50. |
Summers KM et al. (1989) HLA determinants in an Australian population of hemochromatosis patients and their families. ![]() |
51. |
Borecki IB et al. (1989) Segregation of genetic hemochromatosis indexed by latent capacity of transferrin. ![]() |
52. |
Cragg SJ et al. (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis. ![]() |
53. |
David V et al. (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family. ![]() |
54. |
Meyer TE et al. (1987) The HLA linked iron loading gene in an Afrikaner population. ![]() |
55. |
Lucotte G et al. (1986) Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene. ![]() |
56. |
Diamond T et al. (1989) Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors? ![]() |
57. |
McGill JR et al. (1987) Human ferritin H and L sequences lie on ten different chromosomes. ![]() |
58. |
None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII. ![]() |
59. |
Karlsson M et al. (1988) Prevalence of hemochromatosis in Finland. ![]() |
60. |
Milman N et al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis. ![]() |
61. |
Edwards CQ et al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. ![]() |
62. |
Edwards CQ et al. (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A. ![]() |
64. |
Powell LW et al. (1987) Genetic hemochromatosis and HLA linkage. ![]() |
65. |
Eriksson S et al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis. ![]() |
66. |
Siemons LJ et al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion. ![]() |
67. |
Escobar GJ et al. (1987) Primary hemochromatosis in childhood. ![]() |
68. |
Niederau C et al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. ![]() |
69. |
MacSween RN et al. (1973) Hepatic cirrhosis: a clinico-pathological review of 520 cases. ![]() |
70. |
Saddi R et al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease. ![]() |
71. |
Balcerzak SP et al. (1966) Idiopathic hemochromatosis. A study of three families. ![]() |
72. |
Charlton RW et al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients. ![]() |
73. |
Felts JH et al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey. ![]() |
74. |
Cazzola M et al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. ![]() |
75. |
Ritter B et al. (1984) HLA as a marker of the hemochromatosis gene in Sweden. ![]() |
76. |
Le Mignon L et al. (1983) An HLA-All association with the hemochromatosis allele? ![]() |
77. |
Anand S et al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband. ![]() |
78. |
Olsson KS et al. (1984) Screening for iron overload using transferrin saturation. ![]() |
79. |
Muir WA et al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families. ![]() |
80. |
Olsson KS et al. (1983) Prevalence of iron overload in central Sweden. ![]() |
81. |
None (1983) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1983. A 30-year-old man with hypogonadism. ![]() |
82. |
Dadone MM et al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. ![]() |
83. |
Bassett ML et al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families. ![]() |
84. |
None (1982) A foundation for hemochromatosis. ![]() |
85. |
Edwards CQ et al. (1981) Hereditary hemochromatosis: contributions of genetic analyses. ![]() |
86. |
Simon M et al. (1980) Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene. ![]() |
87. |
Beaumont C et al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis. ![]() |
88. |
Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis. ![]() |
89. |
Edwards CQ et al. (1980) Homozygosity for hemochromatosis: clinical manifestations. ![]() |
90. |
Cutler DJ et al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. ![]() |
91. |
Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis. ![]() |
92. |
Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes. ![]() |
93. |
Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. ![]() |
94. |
Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. ![]() |
95. |
Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis. ![]() |
96. |
None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean. ![]() |
97. |
Goei VL et al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection. ![]() |
98. |
Yaouanq J et al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) ![]() |
99. |
Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105. ![]() |
100. |
Deugnier YM et al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. ![]() |
101. |
el Kahloun A et al. (1993) Localization of seven new genes around the HLA-A locus. ![]() |
102. |
Raha-Chowdhury R et al. (1996) A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis. ![]() |
103. |
Rothenberg BE et al. (1996) beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism. ![]() |
104. |
None (1996) Haemochromatosis: strike while the iron is hot. ![]() |
105. |
Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. ![]() |
106. |
Totaro A et al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. ![]() |
107. |
Jazwinska EC et al. (1996) Haemochromatosis and HLA-H. ![]() |
108. |
Jouanolle AM et al. (1996) Haemochromatosis and HLA-H. ![]() |
109. |
Beutler E et al. (1996) Mutation analysis in hereditary hemochromatosis. ![]() |
110. |
Bulaj ZJ et al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. ![]() |
111. |
Hashimoto K et al. (1997) Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene. ![]() |
112. |
Roberts AG et al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. ![]() |
113. |
Robson KJ et al. (1997) Haemochromatosis: a gene at last? ![]() |
114. |
Mercier B et al. (1997) Putting a hold on 'HLA-H'. ![]() |
115. |
Bodmer JG et al. (1997) Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System. ![]() |
116. |
Carella M et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. ![]() |
117. |
Parkkila S et al. (1997) Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. ![]() |
118. |
Merryweather-Clarke AT et al. (1997) Global prevalence of putative haemochromatosis mutations. ![]() |
119. |
Feder JN et al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. ![]() |
120. |
Roth M et al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. ![]() |
121. |
Beutler E et al. (1997) HLA-H mutations in the Ashkenazi Jewish population. ![]() |
122. |
Beutler E et al. (1997) HLA-H and associated proteins in patients with hemochromatosis. ![]() |
123. |
Rhodes DA et al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. ![]() |
124. |
None (1997) The significance of the 187G (H63D) mutation in hemochromatosis. ![]() |
125. |
Jouanolle AM et al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. ![]() |
127. |
Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. ![]() |
128. |
Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. ![]() |
129. |
None (1997) Haemochromatosis, HFE and genetic complexity. ![]() |
130. |
Mura C et al. (1997) Phenotype-genotype correlation in haemochromatosis subjects. ![]() |
131. |
Camaschella C et al. () Juvenile and adult hemochromatosis are distinct genetic disorders. ![]() |
132. |
None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. ![]() |
133. |
Feder JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. ![]() |
134. |
None (1998) Targeted disruption of the HFE gene. ![]() |
135. |
Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis. ![]() |
136. |
Lebrón JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. ![]() |
137. |
Lalouel JM et al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information. ![]() |
138. |
Piperno A et al. (1998) Heterogeneity of hemochromatosis in Italy. ![]() |
139. |
Cullen LM et al. (1998) The hemochromatosis 845 G>A and 187 C>G mutations: prevalence in non-Caucasian populations. ![]() |
140. |
Pérez Roldán F et al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation. ![]() |
141. |
Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites. ![]() |
142. |
Cazzola M et al. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. ![]() |
143. |
Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening. ![]() |
144. |
None (1998) Celtic origin of the C282Y mutation of hemochromatosis. ![]() |
145. |
Powell LW et al. (1998) Diagnosis of hemochromatosis. ![]() |
146. |
Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group. ![]() |
147. |
Looker AC et al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States. ![]() |
148. |
Phatak PD et al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients. ![]() |
149. |
Brittenham GM et al. (1998) Research priorities in hereditary hemochromatosis. ![]() |
150. |
Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. ![]() |
151. |
Kelly AL et al. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. ![]() |
152. |
Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. ![]() |
153. |
Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. ![]() |
154. |
Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations. ![]() |
155. |
Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. ![]() |
156. |
Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. ![]() |
157. |
Mura C et al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. ![]() |
158. |
Roetto A et al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q. ![]() |
159. |
Camaschella C et al. (1999) Inherited HFE-unrelated hemochromatosis in Italian families. ![]() |
160. |
Levy JE et al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. ![]() |
161. |
Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. ![]() |
162. |
de Villiers JN et al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. ![]() |
163. |
Jeffrey GP et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. ![]() |
164. |
Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene. ![]() |
165. |
Pietrangelo A et al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. ![]() |
166. |
Gomez PS et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. ![]() |
167. |
Bahram S et al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. ![]() |
168. |
Noll WW et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. ![]() |
169. |
Willis G et al. (2000) Incidence of liver disease in people with HFE mutations. ![]() |
170. |
Hickman PE et al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis. ![]() |
171. |
Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. ![]() |
172. |
Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. ![]() |
173. |
Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases. ![]() |
174. |
Bulaj ZJ et al. (2000) Disease-related conditions in relatives of patients with hemochromatosis. ![]() |
175. |
Fleming RE et al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis. ![]() |
176. |
Brown AS et al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. ![]() |
177. |
Sproule TJ et al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice. ![]() |
178. |
Steinberg KK et al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. ![]() |
179. |
Barton JC et al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. ![]() |
180. |
Aguilar-Martinez P et al. (2001) Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? ![]() |
181. |
Moczulski DK et al. (2001) Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. ![]() |
182. |
Njajou OT et al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. ![]() |
183. |
Pozzato G et al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. ![]() |
184. |
Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis. ![]() |
185. |
Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. ![]() |
186. |
Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. ![]() |
187. |
Thénié AC et al. (2001) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. ![]() |
188. |
Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs. ![]() |
189. |
Beutler E et al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. ![]() |
190. |
de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. ![]() |
191. |
Townsend A et al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. ![]() |
192. |
Cardoso CS et al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? ![]() |
193. |
Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse. ![]() |
194. |
De Gobbi M et al. (2002) Natural history of juvenile haemochromatosis. ![]() |
195. |
Mattman A et al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. ![]() |
196. |
Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. ![]() |
197. |
Poullis A et al. (2002) Clinical haemochromatosis in HFE mutation carriers. ![]() |
198. |
Drakesmith H et al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages. ![]() |
199. |
McCune CA et al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. ![]() |
200. |
Roetto A et al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. ![]() |
201. |
Papanikolaou G et al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. ![]() |
202. |
Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. ![]() |
203. |
Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. ![]() |
204. |
Le Gac G et al. () Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. ![]() |
205. |
Milman N et al. (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. ![]() |
206. |
Rivard SR et al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. ![]() |
207. |
Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. ![]() |
208. |
Zoller H et al. (2003) Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. ![]() |
210. |
DEBRE R et al. (1958) Genetics of haemochromatosis. ![]() |
211. |
BOTHWELL TH et al. (1959) A familial study in idiopathic hemochromatosis. ![]() |
212. |
PERKINS KW et al. (1965) IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY. ![]() |
213. |
JOHNSON GB et al. (1962) Familial aspects of idiopathic hemochromatosis. ![]() |
214. |
Peterlin B et al. (2003) A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. ![]() |
215. |
Papanikolaou G et al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. ![]() |
216. |
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217. |
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OMIM.ORG article Omim 615517![]() |