Ferritin—leichte Kette
Das FTL-Gen kodiert die leichte Kette des Ferritin, des wichtigsten intrazellulären Eisenspeicherproteins. Mutationen führen zu verschiedenen dominanten und rezessiven Eisenspeichererkrankungen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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. |
Worwood M et al. (1985) Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter.
|
5. |
Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.
|
6. |
Caskey JH et al. (1983) Human ferritin gene is assigned to chromosome 19.
|
7. |
Kato J et al. (2001) A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.
|
8. |
Sammarco MC et al. (2008) Ferritin L and H subunits are differentially regulated on a post-transcriptional level.
|
9. |
Shi H et al. (2008) A cytosolic iron chaperone that delivers iron to ferritin.
|
10. |
Mancias JD et al. (2014) Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.
|
11. |
Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.
|
12. |
Halsall DJ et al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.
|
13. |
Simon M et al. (1977) Heredity of idiopathic haemochromatosis.
|
14. |
Halliday JW et al. (1977) Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families.
|
15. |
Cox TM et al. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis.
|
16. |
Sargent T et al. (1979) Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes.
|
17. |
Feller ER et al. (1977) Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease.
|
18. |
Beaumont C et al. (1979) Serum ferritin as a possible marker of the hemochromatosis allele.
|
19. |
Cartwright GE et al. (1979) Hereditary hemochromatosis. Phenotypic expression of the disease.
|
20. |
None (1979) Genetic linkage and hemosiderosis.
|
21. |
Kravitz K et al. (1979) Genetic linkage between hereditary hemochromatosis and HLA.
|
22. |
Walsh CH et al. (1978) Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis.
|
23. |
Lipinski M et al. (1978) Idiopathic hemochromatosis: linkage with HLA.
|
24. |
Kühnl P et al. (1978) HLA antigens in patients with idiopathic hemochromatosis (IH).
|
25. |
Cartwright GE et al. (1978) Inheritance of hemochromatosis: linkage to HLA.
|
26. |
Lamon JM et al. (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people.
|
27. |
None (1979) Clinical conferences at The Johns Hopkins Hospital. Familial hemochromatosis.
|
28. |
Simon M et al. (1977) Heredity of idiopathic haemochromatosis: a study of 106 families.
|
29. |
Edwards CQ et al. (1977) Hereditary hemochromatosis. Diagnosis in siblings and children.
|
30. |
Rowe JW et al. (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred.
|
31. |
Simon M et al. (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.
|
32. |
Wands JR et al. (1976) Normal serum ferritin concentrations in precirrhotic hemochromatosis.
|
33. |
Simon M et al. (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.
|
34. |
Boretto J et al. (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis.
|
35. |
Yaouanq J et al. (1992) Familial screening for genetic haemochromatosis by means of DNA markers.
|
36. |
Kaikov Y et al. (1992) Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature.
|
37. |
Rabinovitz M et al. (1992) Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis.
|
38. |
Milman N et al. (1992) An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.
|
39. |
Zappone E et al. (1991) Polymorphism in a ferritin H gene from chromosome 6p.
|
40. |
None (1992) Intrafamilial variation in hereditary hemochromatosis.
|
41. |
Milman N et al. (1992) Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects.
|
42. |
Summers KM et al. (1991) Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis.
|
43. |
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.
|
44. |
Bullen JJ et al. (1991) Hemochromatosis, iron and septicemia caused by Vibrio vulnificus.
|
45. |
None (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases.
|
46. |
Jouanolle AM et al. (1990) HLA class I gene polymorphism in genetic hemochromatosis.
|
47. |
Worwood M et al. (1991) Hereditary haemochromatosis and blood donation.
|
48. |
Lord DK et al. (1990) Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis.
|
49. |
Dugast IJ et al. (1990) Identification of two human ferritin H genes on the short arm of chromosome 6.
|
50. |
Leggett BA et al. (1990) Prevalence of haemochromatosis amongst asymptomatic Australians.
|
51. |
Borecki IB et al. (1990) Percent transferrin saturation in segregating hemochromatosis.
|
52. |
Milman N et al. (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands.
|
53. |
Borecki IB et al. (1990) Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.
|
54. |
David V et al. (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis.
|
55. |
Summers KM et al. (1989) HLA determinants in an Australian population of hemochromatosis patients and their families.
|
56. |
Borecki IB et al. (1989) Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.
|
57. |
Cragg SJ et al. (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.
|
58. |
David V et al. (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family.
|
59. |
Meyer TE et al. (1987) The HLA linked iron loading gene in an Afrikaner population.
|
60. |
Lucotte G et al. (1986) Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene.
|
61. |
Diamond T et al. (1989) Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors?
|
62. |
Lebo RV et al. (1985) Human ferritin light chain gene sequences mapped to several sorted chromosomes.
|
63. |
McGill JR et al. (1987) Human ferritin H and L sequences lie on ten different chromosomes.
|
64. |
None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII.
|
65. |
Karlsson M et al. (1988) Prevalence of hemochromatosis in Finland.
|
66. |
Munro HN et al. (1988) The ferritin genes: structure, expression, and regulation.
|
67. |
Milman N et al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis.
|
68. |
Edwards CQ et al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.
|
69. |
Edwards CQ et al. (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.
|
70. |
Simon M et al. (1987) A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.
|
71. |
Powell LW et al. (1987) Genetic hemochromatosis and HLA linkage.
|
72. |
Eriksson S et al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis.
|
73. |
Siemons LJ et al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion.
|
74. |
Escobar GJ et al. (1987) Primary hemochromatosis in childhood.
|
75. |
Santoro C et al. (1986) Cloning of the gene coding for human L apoferritin.
|
76. |
Dörner MH et al. (1985) Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications.
|
77. |
Niederau C et al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.
|
78. |
MacSween RN et al. (1973) Hepatic cirrhosis: a clinico-pathological review of 520 cases.
|
79. |
Saddi R et al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease.
|
80. |
Balcerzak SP et al. (1966) Idiopathic hemochromatosis. A study of three families.
|
81. |
Charlton RW et al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients.
|
82. |
Felts JH et al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey.
|
83. |
Watanabe N et al. (1981) Evidence for distinct mRNAs for ferritin subunits.
|
84. |
Brown AJ et al. (1983) Isolation of cDNA clones for the light subunit of rat liver ferritin: evidence that the light subunit is encoded by a multigene family.
|
85. |
Cazzola M et al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism.
|
86. |
Ritter B et al. (1984) HLA as a marker of the hemochromatosis gene in Sweden.
|
87. |
Le Mignon L et al. (1983) An HLA-All association with the hemochromatosis allele?
|
88. |
Anand S et al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.
|
89. |
Olsson KS et al. (1984) Screening for iron overload using transferrin saturation.
|
90. |
Muir WA et al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families.
|
91. |
Olsson KS et al. (1983) Prevalence of iron overload in central Sweden.
|
92. |
None (1983) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1983. A 30-year-old man with hypogonadism.
|
93. |
Dadone MM et al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.
|
94. |
Bassett ML et al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families.
|
95. |
None (1982) A foundation for hemochromatosis.
|
96. |
Edwards CQ et al. (1981) Hereditary hemochromatosis: contributions of genetic analyses.
|
97. |
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.
|
98. |
Beaumont C et al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis.
|
99. |
Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis.
|
100. |
Edwards CQ et al. (1980) Homozygosity for hemochromatosis: clinical manifestations.
|
101. |
Cutler DJ et al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.
|
102. |
Girelli D et al. (1995) Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
|
103. |
Beaumont C et al. (1995) Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.
|
104. |
Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.
|
105. |
Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes.
|
106. |
Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.
|
107. |
Girelli D et al. (1995) A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.
|
108. |
Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.
|
109. |
Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis.
|
110. |
None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean.
|
111. |
Goei VL et al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection.
|
112. |
Yaouanq J et al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)
|
113. |
Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105.
|
114. |
Deugnier YM et al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases.
|
115. |
el Kahloun A et al. (1993) Localization of seven new genes around the HLA-A locus.
|
116. |
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.
|
117. |
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.
|
118. |
None (1996) Haemochromatosis: strike while the iron is hot.
|
119. |
Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
120. |
Aguilar-Martinez P et al. (1996) A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.
|
121. |
Totaro A et al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.
|
122. |
Jazwinska EC et al. (1996) Haemochromatosis and HLA-H.
|
123. |
Jouanolle AM et al. (1996) Haemochromatosis and HLA-H.
|
124. |
Beutler E et al. (1996) Mutation analysis in hereditary hemochromatosis.
|
125. |
Bulaj ZJ et al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
|
126. |
Hashimoto K et al. (1997) Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene.
|
127. |
Roberts AG et al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
|
128. |
Robson KJ et al. (1997) Haemochromatosis: a gene at last?
|
129. |
Mercier B et al. (1997) Putting a hold on 'HLA-H'.
|
130. |
Bodmer JG et al. (1997) Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System.
|
131. |
Carella M et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
|
132. |
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.
|
133. |
Merryweather-Clarke AT et al. (1997) Global prevalence of putative haemochromatosis mutations.
|
134. |
Feder JN et al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
135. |
Roth M et al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.
|
136. |
Beutler E et al. (1997) HLA-H mutations in the Ashkenazi Jewish population.
|
137. |
Cazzola M et al. (1997) Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.
|
138. |
Beutler E et al. (1997) HLA-H and associated proteins in patients with hemochromatosis.
|
139. |
Girelli D et al. (1997) Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.
|
140. |
Rhodes DA et al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
|
141. |
None (1997) The significance of the 187G (H63D) mutation in hemochromatosis.
|
142. |
Jouanolle AM et al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
143. |
Waheed A et al. (1997) Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
|
144. |
Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.
|
145. |
Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.
|
146. |
None (1997) Haemochromatosis, HFE and genetic complexity.
|
147. |
Martin ME et al. (1998) A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome.
|
148. |
Mumford AD et al. (1998) Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element.
|
149. |
Mura C et al. (1997) Phenotype-genotype correlation in haemochromatosis subjects.
|
150. |
Camaschella C et al. () Juvenile and adult hemochromatosis are distinct genetic disorders.
|
151. |
Filie JD et al. (1998) Genetic mapping of the mouse ferritin light chain gene and 11 pseudogenes on 11 mouse chromosomes.
|
152. |
None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.
|
153. |
Feder JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.
|
154. |
None (1998) Targeted disruption of the HFE gene.
|
155. |
Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis.
|
156. |
Lebrón JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.
|
157. |
Lalouel JM et al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.
|
158. |
Piperno A et al. (1998) Heterogeneity of hemochromatosis in Italy.
|
159. |
Cullen LM et al. (1998) The hemochromatosis 845 G>A and 187 C>G mutations: prevalence in non-Caucasian populations.
|
160. |
Pérez Roldán F et al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation.
|
161. |
Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites.
|
162. |
Cazzola M et al. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder.
|
163. |
Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening.
|
164. |
None (1998) Celtic origin of the C282Y mutation of hemochromatosis.
|
165. |
Powell LW et al. (1998) Diagnosis of hemochromatosis.
|
166. |
Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group.
|
167. |
Looker AC et al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States.
|
168. |
Phatak PD et al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients.
|
169. |
Brittenham GM et al. (1998) Research priorities in hereditary hemochromatosis.
|
170. |
Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.
|
171. |
Kelly AL et al. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.
|
172. |
Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.
|
173. |
Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.
|
174. |
Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations.
|
175. |
Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.
|
176. |
Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.
|
177. |
Mura C et al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
|
178. |
Roetto A et al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q.
|
179. |
Camaschella C et al. (1999) Inherited HFE-unrelated hemochromatosis in Italian families.
|
180. |
Levy JE et al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.
|
181. |
Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis.
|
182. |
de Villiers JN et al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
|
183. |
Jeffrey GP et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.
|
184. |
Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene.
|
185. |
Pietrangelo A et al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.
|
186. |
Gomez PS et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
|
187. |
Bahram S et al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism.
|
188. |
Noll WW et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
|
189. |
Willis G et al. (2000) Incidence of liver disease in people with HFE mutations.
|
190. |
Hickman PE et al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis.
|
191. |
Camaschella C et al. (2000) A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.
|
192. |
Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
|
193. |
Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.
|
194. |
Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.
|
195. |
Bulaj ZJ et al. (2000) Disease-related conditions in relatives of patients with hemochromatosis.
|
196. |
Fleming RE et al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis.
|
197. |
Brown AS et al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997.
|
198. |
Sproule TJ et al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice.
|
199. |
Steinberg KK et al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.
|
200. |
Barton JC et al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping.
|
201. |
Aguilar-Martinez P et al. (2001) Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?
|
202. |
Moczulski DK et al. (2001) Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.
|
203. |
Njajou OT et al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
|
204. |
Pozzato G et al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.
|
205. |
Curtis AR et al. (2001) Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
|
206. |
Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis.
|
207. |
Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.
|
208. |
Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
|
209. |
Thénié AC et al. (2001) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.
|
210. |
Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.
|
211. |
Girelli D et al. (2001) Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
|
212. |
Beutler E et al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.
|
213. |
de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.
|
214. |
Cazzola M et al. (2002) A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome.
|
215. |
Townsend A et al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload.
|
216. |
Cardoso CS et al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?
|
217. |
Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.
|
218. |
De Gobbi M et al. (2002) Natural history of juvenile haemochromatosis.
|
219. |
Mattman A et al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
|
220. |
Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.
|
221. |
McLeod JL et al. (2002) Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.
|
222. |
Campagnoli MF et al. (2002) Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin.
|
223. |
Poullis A et al. (2002) Clinical haemochromatosis in HFE mutation carriers.
|
224. |
Drakesmith H et al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages.
|
225. |
McCune CA et al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.
|
226. |
Roetto A et al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
|
227. |
Papanikolaou G et al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.
|
228. |
Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.
|
229. |
Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.
|
230. |
Le Gac G et al. () Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
|
231. |
Chinnery PF et al. (2003) Neuroferritinopathy in a French family with late onset dominant dystonia.
|
232. |
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.
|
233. |
Rivard SR et al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
|
234. |
Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
|
235. |
Zoller H et al. (2003) Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis.
|
236. |
NUSSBAUMER T et al. (1952) [Juvenile hemochromatosis in three sisters and one brother associated with consanguinity of the parents; anatomo-clinical and genetic study of the endocrino-hepato-myocardial syndrome].
|
237. |
DEBRE R et al. (1958) Genetics of haemochromatosis.
|
238. |
BOTHWELL TH et al. (1959) A familial study in idiopathic hemochromatosis.
|
239. |
PERKINS KW et al. (1965) IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY.
|
240. |
JOHNSON GB et al. (1962) Familial aspects of idiopathic hemochromatosis.
|
241. |
Peterlin B et al. (2003) A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.
|
242. |
Papanikolaou G et al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
|
243. |
Tomatsu S et al. (2003) Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.
|
244. |
Livesey KJ et al. (2004) The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
|
245. |
Lanzara C et al. (2004) Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
|
246. |
Robson KJ et al. (2004) Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.
|
247. |
Andersen RV et al. (2004) Hemochromatosis mutations in the general population: iron overload progression rate.
|
248. |
Roy CN et al. (2004) An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice.
|
249. |
Vidal R et al. (2004) Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.
|
250. |
Cremonesi L et al. (2004) Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.
|
251. |
None (2004) Hereditary hemochromatosis--a new look at an old disease.
|
252. |
Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
|
253. |
Mehrany K et al. (2004) Association of porphyria cutanea tarda with hereditary hemochromatosis.
|
254. |
Distante S et al. (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation.
|
255. |
Oliva R et al. (2004) The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.
|
256. |
Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.
|
257. |
Valenti L et al. (2004) The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.
|
258. |
McDermott JH et al. (2005) Hypogonadism in hereditary hemochromatosis.
|
259. |
Gehrke SG et al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.
|
260. |
De Domenico I et al. (2005) The molecular basis of ferroportin-linked hemochromatosis.
|
261. |
Ka C et al. (2005) The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
|
262. |
Drakesmith H et al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.
|
263. |
Maciel P et al. (2005) Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
264. |
Rohrlich PS et al. (2005) Direct recognition by alphabeta cytolytic T cells of Hfe, a MHC class Ib molecule without antigen-presenting function.
|
265. |
Cremonesi L et al. (2005) Genetic and clinical heterogeneity of ferroportin disease.
|
266. |
Matas M et al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.
|
267. |
Barton JC et al. (2006) Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study.
|
268. |
Sarić M et al. (2006) Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro.
|
269. |
Ludwiczek S et al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.
|
270. |
Adams PC et al. (2007) Haemochromatosis.
|
271. |
Vidal R et al. (2008) Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice.
|
272. |
Allen KJ et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.
|
273. |
Ohta E et al. (2008) Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.
|
274. |
Murugan RC et al. (2008) Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.
|
275. |
Waalen J et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.
|
276. |
None (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.
|
277. |
Davis TM et al. (2008) Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study.
|
278. |
Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.
|
279. |
Devos D et al. (2009) Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.
|
280. |
Benyamin B et al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
|
281. |
Kannengiesser C et al. (2009) A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
|
282. |
Nairz M et al. (2009) Absence of functional Hfe protects mice from invasive Salmonella enterica serovar Typhimurium infection via induction of lipocalin-2.
|
283. |
Brakensiek K et al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.
|
284. |
Shekunov J et al. (2011) Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.
|
285. |
Giansily-Blaizot M et al. (2013) Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
|
286. |
Luscieti S et al. (2013) Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
|
287. |
Cozzi A et al. (2013) Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.
|
288. |
Cippà PE et al. (2013) Increased height in HFE hemochromatosis.
|
289. |
Hill WG et al. (1968) Linkage disequilibrium in finite populations.
|
290. |
Orphanet article
Orphanet ID 121953
|
291. |
NCBI article
NCBI 2512
|
292. |
OMIM.ORG article
Omim 134790
|
Update: 14. August 2020