Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Hämochromatose 4

Die Hämochromatose 4 ist eine autosomal rezessive Eisenspeicherkrankheit, die durch Mutationen im SLC40A1-Gen hervorgerufen wird.

Gliederung

Hämochromatose
Hämochromatose 1
Hämochromatose 2a
Hämochromatose 2b
Hämochromatose 3
Hämochromatose 4
SLC40A1
Hämochromatose 5

Referenzen:

1.

de Sousa M et al. (1994) Iron overload in beta 2-microglobulin-deficient mice.

external link
2.

Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

external link
3.

Hentze MW et al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.

external link
4.

Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.

external link
5.

Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

external link
6.

Halsall DJ et al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.

external link
7.

Simon M et al. (1977) Heredity of idiopathic haemochromatosis.

external link
8.

Halliday JW et al. (1977) Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families.

external link
9.

Cox TM et al. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis.

external link
10.

Sargent T et al. (1979) Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes.

external link
11.

Feller ER et al. (1977) Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease.

external link
12.

Beaumont C et al. (1979) Serum ferritin as a possible marker of the hemochromatosis allele.

external link
13.

Cartwright GE et al. (1979) Hereditary hemochromatosis. Phenotypic expression of the disease.

external link
14.

None (1979) Genetic linkage and hemosiderosis.

external link
15.

Kravitz K et al. (1979) Genetic linkage between hereditary hemochromatosis and HLA.

external link
16.

Walsh CH et al. (1978) Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis.

external link
17.

Lipinski M et al. (1978) Idiopathic hemochromatosis: linkage with HLA.

external link
18.

Kühnl P et al. (1978) HLA antigens in patients with idiopathic hemochromatosis (IH).

external link
19.

Cartwright GE et al. (1978) Inheritance of hemochromatosis: linkage to HLA.

external link
20.

Lamon JM et al. (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people.

external link
21.

None (1979) Clinical conferences at The Johns Hopkins Hospital. Familial hemochromatosis.

external link
22.

Simon M et al. (1977) Heredity of idiopathic haemochromatosis: a study of 106 families.

external link
23.

Edwards CQ et al. (1977) Hereditary hemochromatosis. Diagnosis in siblings and children.

external link
24.

Rowe JW et al. (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred.

external link
25.

Simon M et al. (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.

external link
26.

Wands JR et al. (1976) Normal serum ferritin concentrations in precirrhotic hemochromatosis.

external link
27.

Simon M et al. (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.

external link
28.

Boretto J et al. (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis.

external link
29.

Yaouanq J et al. (1992) Familial screening for genetic haemochromatosis by means of DNA markers.

external link
30.

Kaikov Y et al. (1992) Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature.

external link
31.

Rabinovitz M et al. (1992) Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis.

external link
32.

Milman N et al. (1992) An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.

external link
33.

Zappone E et al. (1991) Polymorphism in a ferritin H gene from chromosome 6p.

external link
34.

None (1992) Intrafamilial variation in hereditary hemochromatosis.

external link
35.

Milman N et al. (1992) Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects.

external link
36.

Summers KM et al. (1991) Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis.

external link
37.

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.

external link
38.

Bullen JJ et al. (1991) Hemochromatosis, iron and septicemia caused by Vibrio vulnificus.

external link
39.

None (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases.

external link
40.

Jouanolle AM et al. (1990) HLA class I gene polymorphism in genetic hemochromatosis.

external link
41.

Worwood M et al. (1991) Hereditary haemochromatosis and blood donation.

external link
42.

Lord DK et al. (1990) Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis.

external link
43.

Dugast IJ et al. (1990) Identification of two human ferritin H genes on the short arm of chromosome 6.

external link
44.

Leggett BA et al. (1990) Prevalence of haemochromatosis amongst asymptomatic Australians.

external link
45.

Borecki IB et al. (1990) Percent transferrin saturation in segregating hemochromatosis.

external link
46.

Milman N et al. (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands.

external link
47.

Borecki IB et al. (1990) Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.

external link
48.

David V et al. (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis.

external link
49.

Summers KM et al. (1989) HLA determinants in an Australian population of hemochromatosis patients and their families.

external link
50.

Borecki IB et al. (1989) Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.

external link
51.

Cragg SJ et al. (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.

external link
52.

David V et al. (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family.

external link
53.

Meyer TE et al. (1987) The HLA linked iron loading gene in an Afrikaner population.

external link
54.

Lucotte G et al. (1986) Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene.

external link
55.

Diamond T et al. (1989) Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors?

external link
56.

McGill JR et al. (1987) Human ferritin H and L sequences lie on ten different chromosomes.

external link
57.

None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII.

external link
58.

Karlsson M et al. (1988) Prevalence of hemochromatosis in Finland.

external link
59.

Milman N et al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis.

external link
60.

Edwards CQ et al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.

external link
61.

Edwards CQ et al. (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.

external link
62.

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.

external link
63.

Powell LW et al. (1987) Genetic hemochromatosis and HLA linkage.

external link
64.

Eriksson S et al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis.

external link
65.

Siemons LJ et al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion.

external link
66.

Escobar GJ et al. (1987) Primary hemochromatosis in childhood.

external link
67.

Niederau C et al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.

external link
68.

MacSween RN et al. (1973) Hepatic cirrhosis: a clinico-pathological review of 520 cases.

external link
69.

Saddi R et al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease.

external link
70.

Balcerzak SP et al. (1966) Idiopathic hemochromatosis. A study of three families.

external link
71.

Charlton RW et al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients.

external link
72.

Felts JH et al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey.

external link
73.

Cazzola M et al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism.

external link
74.

Ritter B et al. (1984) HLA as a marker of the hemochromatosis gene in Sweden.

external link
75.

Le Mignon L et al. (1983) An HLA-All association with the hemochromatosis allele?

external link
76.

Anand S et al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.

external link
77.

Olsson KS et al. (1984) Screening for iron overload using transferrin saturation.

external link
78.

Muir WA et al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families.

external link
79.

Olsson KS et al. (1983) Prevalence of iron overload in central Sweden.

external link
80.

None (1983) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1983. A 30-year-old man with hypogonadism.

external link
81.

Dadone MM et al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.

external link
82.

Bassett ML et al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families.

external link
83.

None (1982) A foundation for hemochromatosis.

external link
84.

Edwards CQ et al. (1981) Hereditary hemochromatosis: contributions of genetic analyses.

external link
85.

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.

external link
86.

Beaumont C et al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis.

external link
87.

Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis.

external link
88.

Edwards CQ et al. (1980) Homozygosity for hemochromatosis: clinical manifestations.

external link
89.

Cutler DJ et al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.

external link
90.

Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.

external link
91.

Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes.

external link
92.

Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.

external link
93.

Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

external link
94.

Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis.

external link
95.

None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean.

external link
96.

Goei VL et al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection.

external link
97.

Yaouanq J et al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

external link
98.

Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105.

external link
99.

Deugnier YM et al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases.

external link
100.

el Kahloun A et al. (1993) Localization of seven new genes around the HLA-A locus.

external link
101.

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.

external link
102.

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.

external link
103.

None (1996) Haemochromatosis: strike while the iron is hot.

external link
104.

Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

external link
105.

Totaro A et al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.

external link
106.

Jazwinska EC et al. (1996) Haemochromatosis and HLA-H.

external link
107.

Jouanolle AM et al. (1996) Haemochromatosis and HLA-H.

external link
108.

Beutler E et al. (1996) Mutation analysis in hereditary hemochromatosis.

external link
109.

Bulaj ZJ et al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

external link
110.

Hashimoto K et al. (1997) Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene.

external link
111.

Roberts AG et al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

external link
112.

Robson KJ et al. (1997) Haemochromatosis: a gene at last?

external link
113.

Mercier B et al. (1997) Putting a hold on 'HLA-H'.

external link
114.

Bodmer JG et al. (1997) Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System.

external link
115.

Carella M et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

external link
116.

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.

external link
117.

Merryweather-Clarke AT et al. (1997) Global prevalence of putative haemochromatosis mutations.

external link
118.

Feder JN et al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

external link
119.

Roth M et al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.

external link
120.

Beutler E et al. (1997) HLA-H mutations in the Ashkenazi Jewish population.

external link
121.

Beutler E et al. (1997) HLA-H and associated proteins in patients with hemochromatosis.

external link
122.

Rhodes DA et al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

external link
123.

None (1997) The significance of the 187G (H63D) mutation in hemochromatosis.

external link
124.

Jouanolle AM et al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

external link
125.

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.

external link
126.

Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.

external link
127.

Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.

external link
128.

None (1997) Haemochromatosis, HFE and genetic complexity.

external link
129.

Mura C et al. (1997) Phenotype-genotype correlation in haemochromatosis subjects.

external link
130.

Camaschella C et al. () Juvenile and adult hemochromatosis are distinct genetic disorders.

external link
131.

None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.

external link
132.

Feder JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

external link
133.

None (1998) Targeted disruption of the HFE gene.

external link
134.

Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis.

external link
135.

Lebrón JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.

external link
136.

Lalouel JM et al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.

external link
137.

Piperno A et al. (1998) Heterogeneity of hemochromatosis in Italy.

external link
138.

Cullen LM et al. (1998) The hemochromatosis 845 G>A and 187 C>G mutations: prevalence in non-Caucasian populations.

external link
139.

Pérez Roldán F et al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation.

external link
140.

Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites.

external link
141.

Cazzola M et al. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder.

external link
142.

Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening.

external link
143.

None (1998) Celtic origin of the C282Y mutation of hemochromatosis.

external link
144.

Powell LW et al. (1998) Diagnosis of hemochromatosis.

external link
145.

Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group.

external link
146.

Looker AC et al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States.

external link
147.

Phatak PD et al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients.

external link
148.

Brittenham GM et al. (1998) Research priorities in hereditary hemochromatosis.

external link
149.

Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.

external link
150.

Kelly AL et al. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.

external link
151.

Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.

external link
152.

Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.

external link
153.

Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations.

external link
154.

Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

external link
155.

Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.

external link
156.

Mura C et al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

external link
157.

Roetto A et al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q.

external link
158.

Camaschella C et al. (1999) Inherited HFE-unrelated hemochromatosis in Italian families.

external link
159.

Levy JE et al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.

external link
160.

Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis.

external link
161.

de Villiers JN et al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

external link
162.

Jeffrey GP et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.

external link
163.

Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene.

external link
164.

Pietrangelo A et al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.

external link
165.

Gomez PS et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

external link
166.

Bahram S et al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism.

external link
167.

Noll WW et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

external link
168.

Willis G et al. (2000) Incidence of liver disease in people with HFE mutations.

external link
169.

Hickman PE et al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis.

external link
170.

Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

external link
171.

Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.

external link
172.

Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.

external link
173.

Bulaj ZJ et al. (2000) Disease-related conditions in relatives of patients with hemochromatosis.

external link
174.

Fleming RE et al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis.

external link
175.

Brown AS et al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997.

external link
176.

Sproule TJ et al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice.

external link
177.

Steinberg KK et al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

external link
178.

Barton JC et al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping.

external link
179.

Aguilar-Martinez P et al. (2001) Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

external link
180.

Moczulski DK et al. (2001) Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

external link
181.

Njajou OT et al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

external link
182.

Pozzato G et al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.

external link
183.

Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis.

external link
184.

Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.

external link
185.

Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

external link
186.

Thénié AC et al. (2001) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.

external link
187.

Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.

external link
188.

Beutler E et al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

external link
189.

de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.

external link
190.

Townsend A et al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload.

external link
191.

Cardoso CS et al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?

external link
192.

Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.

external link
193.

De Gobbi M et al. (2002) Natural history of juvenile haemochromatosis.

external link
194.

Mattman A et al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

external link
195.

Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

external link
196.

Poullis A et al. (2002) Clinical haemochromatosis in HFE mutation carriers.

external link
197.

Drakesmith H et al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages.

external link
198.

McCune CA et al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.

external link
199.

Roetto A et al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

external link
200.

Papanikolaou G et al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.

external link
201.

Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

external link
202.

Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.

external link
203.

Le Gac G et al. () Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

external link
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.

external link
205.

Rivard SR et al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

external link
206.

Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

external link
207.

Zoller H et al. (2003) Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis.

external link
208.

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].

external link
209.

DEBRE R et al. (1958) Genetics of haemochromatosis.

external link
210.

BOTHWELL TH et al. (1959) A familial study in idiopathic hemochromatosis.

external link
211.

PERKINS KW et al. (1965) IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY.

external link
212.

JOHNSON GB et al. (1962) Familial aspects of idiopathic hemochromatosis.

external link
213.

Peterlin B et al. (2003) A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.

external link
214.

Papanikolaou G et al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

external link
215.

Tomatsu S et al. (2003) Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

external link
216.

Livesey KJ et al. (2004) The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.

external link
217.

Lanzara C et al. (2004) Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

external link
218.

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.

external link
219.

Andersen RV et al. (2004) Hemochromatosis mutations in the general population: iron overload progression rate.

external link
220.

Roy CN et al. (2004) An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice.

external link
221.

None (2004) Hereditary hemochromatosis--a new look at an old disease.

external link
222.

Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

external link
223.

Mehrany K et al. (2004) Association of porphyria cutanea tarda with hereditary hemochromatosis.

external link
224.

Distante S et al. (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation.

external link
225.

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.

external link
226.

Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

external link
227.

Valenti L et al. (2004) The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

external link
228.

McDermott JH et al. (2005) Hypogonadism in hereditary hemochromatosis.

external link
229.

Gehrke SG et al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.

external link
230.

De Domenico I et al. (2005) The molecular basis of ferroportin-linked hemochromatosis.

external link
231.

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.

external link
232.

Drakesmith H et al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.

external link
233.

Rohrlich PS et al. (2005) Direct recognition by alphabeta cytolytic T cells of Hfe, a MHC class Ib molecule without antigen-presenting function.

external link
234.

Cremonesi L et al. (2005) Genetic and clinical heterogeneity of ferroportin disease.

external link
235.

Matas M et al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.

external link
236.

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.

external link
237.

Sarić M et al. (2006) Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro.

external link
238.

Ludwiczek S et al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.

external link
239.

Adams PC et al. (2007) Haemochromatosis.

external link
240.

Allen KJ et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

external link
241.

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.

external link
242.

Waalen J et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

external link
243.

None (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

external link
244.

Davis TM et al. (2008) Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study.

external link
245.

Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

external link
246.

Benyamin B et al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

external link
247.

Nairz M et al. (2009) Absence of functional Hfe protects mice from invasive Salmonella enterica serovar Typhimurium infection via induction of lipocalin-2.

external link
248.

Brakensiek K et al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

external link
249.

Cippà PE et al. (2013) Increased height in HFE hemochromatosis.

external link
250.

Hill WG et al. (1968) Linkage disequilibrium in finite populations.

external link
251.

OMIM.ORG article

Omim 606069 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz