Regular ArticleSeeking Candidate Mutations That Affect Iron Homeostasis☆
References (76)
- et al.
Penetrance of the 845G6A (C282Y) HFE hereditary haemochromatosis mutation in the USA
Lancet
(2002) - et al.
Molecular characterization of a case of atransferrinemia
Blood
(2000) - et al.
A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
Blood Cells Mol. Dis.
(2001) - et al.
Iron overload in beta 2-microglobulin-deficient mice
Immunol. Lett.
(1994) - et al.
The hemochromatosis founder mutation in HLA-H disrupts {beta}2-microglobulin interaction and cell surface expression
J. Biol. Chem.
(1997) - et al.
Hepcidin, a urinary antimicrobial peptide synthesized in the liver
J. Biol. Chem.
(2001) - et al.
The effect of transferrin polymorphisms on iron metabolism
Blood Cells Mol. Dis.
(1999) - et al.
Polymorphisms in the transferrin 5′ flanking region associated with differences in total iron binding capacity: Possible implications in iron homeostasis
Blood Cells Mol. Dis.
(2001) - et al.
Transferrin receptor mutation analysis in hereditary hemochromatosis patients
Blood Cells Mol. Dis.
(1998) - et al.
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
Blood Cells Mol. Dis.
(2001)
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
Gastroenterology
(2002)
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
Blood
(2001)
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes
Mol. Genet. Metab.
(2002)
A valine deletion of ferroportin 1: A common mutation in hemochromatosis type 4?
Blood
(2002)
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
Blood
(2002)
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
Blood
(2002)
Isolation and characterization of human and mouse ZIRTL, a member of the IRT1 family of transporters, mapping within the epidermal differentiation complex
Genomics
(1999)
High-resolution YAC fragmentation map of 1q21
Genomics
(1998)
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis
Blood Cells Mol. Dis.
(2001)
Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg
Cell
(1993)
The human nramp2 gene: Characterization of the gene structure, alternative splicing, promoter region and polymorphisms
Blood Cells Mol. Dis.
(1998)
Iron absorption and transport
Am. J. Med. Sci.
(1999)
A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome
Blood
(1996)
H ferritin knockout mice: A model of hyperferritinemia in the absence of iron overload
Blood
(2001)
A mutation in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
Am. J. Hum. Genet.
(2001)
Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients
J. Hepatol.
(2001)
Heme oxygenase-1 deficiency: The first autopsy case
Hum. Pathol.
(2002)
Role for NF-kappa B in the regulation of ferritin H by tumor necrosis factor-alpha
J. Biol. Chem.
(1995)
Tumor necrosis factor-alpha and interleukin 1-alpha regulate transferrin receptor in human diploid fibroblasts. Relationship to the induction of ferritin heavy chain
J Biol Chem
(1991)
Decreased concentrations of tumor necrosis factor-a in supernatants of monocytes from homozygotes for hereditary hemochromatosis
Blood
(1992)
Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis
Blood
(2001)
Tumor necrosis factor a promoter polymorphisms and liver abnormalities of homozygotes for the c.845 G6A (C282Y) hereditary hemochromatosis mutation
Blood
(2002)
Venous thrombosis: a multicausal disease
Lancet
(1999)
The effect of alpha-thalassemia on the expression of the beta-thalassemia/HPFH heterozygote in a black family
Blood
(1981)
Juvenile hemochromatosis locus maps to chromosome 1q
Am. J. Hum. Genet.
(1999)
Persons with screening-detected haemochromatosis: as healthy as the general population?
Scand. J. Gastroenterol.
(2002)
HLA-H and associated proteins in patients with hemochromatosis
Mol. Med.
(1997)
Cited by (0)
- ☆
Communicated by E. Beutler, M.D., 10/14/02
- f1
Correspondence and reprint requests to: Pauline Lee. E-mail: [email protected].
Copyright © 2002 Elsevier Science (USA). All rights reserved.