Hämochromatose 4
Die Hämochromatose 4 ist eine autosomal rezessive Eisenspeicherkrankheit, die durch Mutationen im SLC40A1-Gen hervorgerufen wird.
Gliederung
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2. |
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4. |
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5. |
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6. |
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8. |
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9. |
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14. |
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41. |
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42. |
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43. |
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44. |
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45. |
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46. |
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47. |
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48. |
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49. |
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50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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56. |
Karlsson M et. al. (1988) Prevalence of hemochromatosis in Finland. [^] |
57. |
Milman N et. al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis. [^] |
58. |
Edwards CQ et. al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. [^] |
59. |
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60. |
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. [^] |
61. |
Powell LW et. al. (1987) Genetic hemochromatosis and HLA linkage. [^] |
62. |
Eriksson S et. al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis. [^] |
63. |
Siemons LJ et. al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion. [^] |
64. |
Escobar GJ et. al. (1987) Primary hemochromatosis in childhood. [^] |
65. |
Niederau C et. al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. [^] |
66. |
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67. |
Saddi R et. al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease. [^] |
68. |
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69. |
Charlton RW et. al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients. [^] |
70. |
Felts JH et. al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey. [^] |
71. |
Cazzola M et. al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. [^] |
72. |
Ritter B et. al. (1984) HLA as a marker of the hemochromatosis gene in Sweden. [^] |
73. |
Le Mignon L et. al. (1983) An HLA-All association with the hemochromatosis allele? [^] |
74. |
Anand S et. al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband. [^] |
75. |
Olsson KS et. al. (1984) Screening for iron overload using transferrin saturation. [^] |
76. |
Muir WA et. al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families. [^] |
77. |
Olsson KS et. al. (1983) Prevalence of iron overload in central Sweden. [^] |
78. |
None (1983) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1983. A 30-year-old man with hypogonadism. [^] |
79. |
Dadone MM et. al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. [^] |
80. |
Bassett ML et. al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families. [^] |
81. |
None (1982) A foundation for hemochromatosis. [^] |
82. |
Edwards CQ et. al. (1981) Hereditary hemochromatosis: contributions of genetic analyses. [^] |
83. |
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. [^] |
84. |
Beaumont C et. al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis. [^] |
85. |
Valberg LS et. al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis. [^] |
86. |
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87. |
Cutler DJ et. al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. [^] |
88. |
Elzouki AN et. al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis. [^] |
89. |
Hashimoto K et. al. (1995) A gene outside the human MHC related to classical HLA class I genes. [^] |
90. |
Calandro LM et. al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. [^] |
91. |
Jazwinska EC et. al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. [^] |
92. |
Barton JC et. al. (1994) Blood lead concentrations in hereditary hemochromatosis. [^] |
93. |
None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean. [^] |
94. |
Goei VL et. al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection. [^] |
95. |
Yaouanq J et. al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) [^] |
96. |
Jazwinska EC et. al. (1993) Localization of the hemochromatosis gene close to D6S105. [^] |
97. |
Deugnier YM et. al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. [^] |
98. |
el Kahloun A et. al. (1993) Localization of seven new genes around the HLA-A locus. [^] |
99. |
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. [^] |
100. |
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. [^] |
101. |
None (1996) Haemochromatosis: strike while the iron is hot. [^] |
102. |
Feder JN et. al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. [^] |
103. |
Totaro A et. al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. [^] |
104. |
Jazwinska EC et. al. (1996) Haemochromatosis and HLA-H. [^] |
105. |
Jouanolle AM et. al. (1996) Haemochromatosis and HLA-H. [^] |
106. |
Beutler E et. al. (1996) Mutation analysis in hereditary hemochromatosis. [^] |
107. |
Bulaj ZJ et. al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. [^] |
108. |
Hashimoto K et. al. (1997) Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene. [^] |
109. |
Roberts AG et. al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. [^] |
110. |
Robson KJ et. al. (1997) Haemochromatosis: a gene at last? [^] |
111. |
Mercier B et. al. (1997) Putting a hold on 'HLA-H'. [^] |
112. |
Bodmer JG et. al. (1997) Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System. [^] |
113. |
Carella M et. al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. [^] |
114. |
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. [^] |
115. |
Merryweather-Clarke AT et. al. (1997) Global prevalence of putative haemochromatosis mutations. [^] |
116. |
Feder JN et. al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. [^] |
117. |
Roth M et. al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. [^] |
118. |
Beutler E et. al. (1997) HLA-H mutations in the Ashkenazi Jewish population. [^] |
119. |
Beutler E et. al. (1997) HLA-H and associated proteins in patients with hemochromatosis. [^] |
120. |
Rhodes DA et. al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. [^] |
121. |
None (1997) The significance of the 187G (H63D) mutation in hemochromatosis. [^] |
122. |
Jouanolle AM et. al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. [^] |
123. |
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. [^] |
124. |
Beckman LE et. al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. [^] |
125. |
Parkkila S et. al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. [^] |
126. |
None (1997) Haemochromatosis, HFE and genetic complexity. [^] |
127. |
Mura C et. al. (1997) Phenotype-genotype correlation in haemochromatosis subjects. [^] |
128. |
Camaschella C et. al. () Juvenile and adult hemochromatosis are distinct genetic disorders. [^] |
129. |
None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. [^] |
130. |
Feder JN et. al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. [^] |
131. |
None (1998) Targeted disruption of the HFE gene. [^] |
132. |
Zhou XY et. al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis. [^] |
133. |
Lebrón JA et. al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. [^] |
134. |
Lalouel JM et. al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information. [^] |
135. |
Piperno A et. al. (1998) Heterogeneity of hemochromatosis in Italy. [^] |
136. |
Cullen LM et. al. (1998) The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations. [^] |
137. |
Pérez Roldán F et. al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation. [^] |
138. |
Lonjou C et. al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites. [^] |
139. |
Cazzola M et. al. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. [^] |
140. |
Burt MJ et. al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening. [^] |
141. |
None (1998) Celtic origin of the C282Y mutation of hemochromatosis. [^] |
142. |
Powell LW et. al. (1998) Diagnosis of hemochromatosis. [^] |
143. |
Barton JC et. al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group. [^] |
144. |
Looker AC et. al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States. [^] |
145. |
Phatak PD et. al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients. [^] |
146. |
Brittenham GM et. al. (1998) Research priorities in hereditary hemochromatosis. [^] |
147. |
Waheed A et. al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. [^] |
148. |
Kelly AL et. al. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. [^] |
149. |
Fleming RE et. al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. [^] |
150. |
Roy CN et. al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. [^] |
151. |
Rochette J et. al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations. [^] |
152. |
Merryweather-Clarke AT et. al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. [^] |
153. |
Grove J et. al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. [^] |
154. |
Mura C et. al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. [^] |
155. |
Roetto A et. al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q. [^] |
156. |
Camaschella C et. al. (1999) Inherited HFE-unrelated hemochromatosis in Italian families. [^] |
157. |
Levy JE et. al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. [^] |
158. |
Zoller H et. al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. [^] |
159. |
de Villiers JN et. al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. [^] |
160. |
Jeffrey GP et. al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. [^] |
161. |
Olynyk JK et. al. (1999) A population-based study of the clinical expression of the hemochromatosis gene. [^] |
162. |
Pietrangelo A et. al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. [^] |
163. |
Gomez PS et. al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. [^] |
164. |
Bahram S et. al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. [^] |
165. |
Noll WW et. al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. [^] |
166. |
Willis G et. al. (2000) Incidence of liver disease in people with HFE mutations. [^] |
167. |
Hickman PE et. al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis. [^] |
168. |
Camaschella C et. al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. [^] |
169. |
Griffiths W et. al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. [^] |
170. |
Hussain SP et. al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases. [^] |
171. |
Bulaj ZJ et. al. (2000) Disease-related conditions in relatives of patients with hemochromatosis. [^] |
172. |
Fleming RE et. al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis. [^] |
173. |
Brown AS et. al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. [^] |
174. |
Sproule TJ et. al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice. [^] |
175. |
Steinberg KK et. al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. [^] |
176. |
Barton JC et. al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. [^] |
177. |
Aguilar-Martinez P et. al. (2001) Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? [^] |
178. |
Moczulski DK et. al. (2001) Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. [^] |
179. |
Njajou OT et. al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. [^] |
180. |
Pozzato G et. al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. [^] |
181. |
Cairo G et. al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis. [^] |
182. |
Barton JC et. al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. [^] |
183. |
Montosi G et. al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. [^] |
184. |
Thénié AC et. al. (2001) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. [^] |
185. |
Mura C et. al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs. [^] |
186. |
Roy CN et. al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. [^] |
187. |
Beutler E et. al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. [^] |
188. |
de Juan D et. al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. [^] |
189. |
Townsend A et. al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. [^] |
190. |
Cardoso CS et. al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? [^] |
191. |
Trinder D et. al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse. [^] |
192. |
De Gobbi M et. al. (2002) Natural history of juvenile haemochromatosis. [^] |
193. |
Mattman A et. al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. [^] |
194. |
Hofmann WK et. al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. [^] |
195. |
Poullis A et. al. (2002) Clinical haemochromatosis in HFE mutation carriers. [^] |
196. |
Drakesmith H et. al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages. [^] |
197. |
McCune CA et. al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. [^] |
198. |
Roetto A et. al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. [^] |
199. |
Papanikolaou G et. al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. [^] |
200. |
Nicolas G et. al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. [^] |
201. |
Muckenthaler M et. al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. [^] |
202. |
Le Gac G et. al. () Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. [^] |
203. |
Halsall DJ et. al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study. [^] |
204. |
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. [^] |
205. |
Rivard SR et. al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. [^] |
206. |
Merryweather-Clarke AT et. al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. [^] |
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