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1 ion in humans, showed a phenotype similar to hereditary hemochromatosis.
2 in patients with the iron overload disorder hereditary hemochromatosis.
3 FE gene knockout mouse model that replicates hereditary hemochromatosis.
4 sferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis.
5 ns in the HFE gene, which is responsible for hereditary hemochromatosis.
6 sferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis.
7 thod of screening relatives of patients with hereditary hemochromatosis.
8 is upregulated in the iron overload disease, hereditary hemochromatosis.
9 d in patients with the iron overload disease hereditary hemochromatosis.
10 e mutated in the autosomal recessive disease hereditary hemochromatosis.
11 he disease-causing mutation in patients with hereditary hemochromatosis.
12 ed in patients with the iron storage disease hereditary hemochromatosis.
13 anism may play a role in the pathogenesis of hereditary hemochromatosis.
14 that is mutated in the iron-overload disease hereditary hemochromatosis.
15 on is the earliest phenotypic abnormality in hereditary hemochromatosis.
16 HFE gene that are associated with HLA-linked hereditary hemochromatosis.
17 e positional cloning of a candidate gene for hereditary hemochromatosis.
18 ic Fe regulator) gene is commonly mutated in hereditary hemochromatosis.
19 nic hepatitis C, alcoholic liver disease, or hereditary hemochromatosis.
20 ocytes is the first stage of fibrogenesis in hereditary hemochromatosis.
21 d-Blackfan anemia, sideroblastic anemia, and hereditary hemochromatosis.
22 of the natural history of iron deposition in hereditary hemochromatosis.
23 in a rare form of the iron-overload disease hereditary hemochromatosis.
24 strains are available for the major forms of hereditary hemochromatosis.
25 iron overload disorders, collectively termed hereditary hemochromatosis.
26 iron overload, such as the thalassemias and hereditary hemochromatosis.
27 production is central to the pathogenesis of hereditary hemochromatosis.
28 t common cause of the iron-overload disorder hereditary hemochromatosis.
29 recessive form of the iron overload disease, hereditary hemochromatosis.
30 eceptor 2 (TfR2) and HFE are associated with hereditary hemochromatosis.
31 crimination in the HFE gene, responsible for hereditary hemochromatosis.
32 It is defective in hereditary hemochromatosis.
33 n iron homeostasis and associated with human hereditary hemochromatosis.
34 osition in several organs similar to classic hereditary hemochromatosis.
35 idespread or high-risk genetic screening for hereditary hemochromatosis.
36 t for the prevention of iron accumulation in hereditary hemochromatosis.
37 anifestations reportedly seen in humans with hereditary hemochromatosis.
38 id not consistently identify a link to overt hereditary hemochromatosis.
39 isorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub
45 f infection is increased in individuals with hereditary hemochromatosis and in individuals with low o
46 ause of iron overload in nearly all forms of hereditary hemochromatosis and in untransfused iron-load
47 cidin deficiency results in iron overload in hereditary hemochromatosis and ineffective erythropoiesi
49 s of iron overload and deficiency, including hereditary hemochromatosis and iron-refractory iron defi
50 human disorders of iron metabolism, such as hereditary hemochromatosis and iron-refractory iron-defi
51 n expression is inappropriately decreased in hereditary hemochromatosis and is abnormally increased i
52 e relation between genotype and phenotype in hereditary hemochromatosis and other iron overload disor
53 New insights into the pathophysiology of hereditary hemochromatosis and the anaemia of chronic di
54 n refractory iron deficiency anemia, cancer, hereditary hemochromatosis, and ineffective erythropoies
55 ent evidence indicates that certain forms of hereditary hemochromatosis are caused by hepcidin defici
57 article, the authors draw attention again to hereditary hemochromatosis as a cause of preventable org
59 l inhibition of PKC significantly alleviated hereditary hemochromatosis-associated iron overload.
60 the BMP2-regulated hormone hepcidin, such as hereditary hemochromatosis, B-thalassemia, and chronic l
61 A genetic definition of the common form of hereditary hemochromatosis became possible, and testing
62 sed in individuals with clinically diagnosed hereditary hemochromatosis, but risks are unclear in mos
63 of morbidity and mortality in patients with hereditary hemochromatosis, but the precise mechanisms l
64 a mutation equivalent to that seen in human hereditary hemochromatosis (C282Y) were compared with wi
67 ssical ferroportin disease (FD) is a form of hereditary hemochromatosis caused by mutations in the ir
68 this time in population-based screening for hereditary hemochromatosis, due to uncertainties about p
69 has not previously considered screening for hereditary hemochromatosis for a recommendation as a cli
71 e that has been implicated to play a role in hereditary hemochromatosis, further strengthens the noti
80 our ability to make a molecular diagnosis of hereditary hemochromatosis has called attention to new i
81 gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagno
82 pathophysiology of such common disorders as hereditary hemochromatosis (HH) and the anaemia of chron
83 Approximately 85% of patients with typical hereditary hemochromatosis (HH) are homozygous for the C
85 (HFE) or transferrin receptor 2 (TFR2) cause hereditary hemochromatosis (HH) by impeding production o
88 tly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y
111 ile decreased levels of hepcidin in a murine hereditary hemochromatosis (HH) model increased adipocyt
114 e positional cloning of a candidate gene for hereditary hemochromatosis (HH), called HLA-H, which is
116 In murine Hfe and Tfr2 knockout models of hereditary hemochromatosis (HH), signal transduction to
117 lly cloning a candidate gene responsible for hereditary hemochromatosis (HH), we constructed a 1.1-Mb
126 considered genetic screening for HFE-related hereditary hemochromatosis in C282Y homozygotes only.
129 y play a role in confirming the diagnosis of hereditary hemochromatosis in persons with elevated seru
130 e manifestations potentially attributable to hereditary hemochromatosis in primary care and subspecia
132 probability or susceptibility of developing hereditary hemochromatosis, including the relatives of i
133 that the pathogenesis of nearly all forms of hereditary hemochromatosis involves inappropriately low
148 ay for the C282Y substitution diagnostic for hereditary hemochromatosis is developed and evaluated us
149 irmed that disease penetrance in HFE-related hereditary hemochromatosis is lower than previously beli
158 type, suggesting that hepatic iron levels in hereditary hemochromatosis may not accurately predict th
160 ormone, hepcidin, are inappropriately low in hereditary hemochromatosis mouse models and patients wit
164 A1 in countries not normally associated with hereditary hemochromatosis (Pakistan, Bangladesh, Sri La
165 deline is to increase physician awareness of hereditary hemochromatosis, particularly the variable pe
169 emochromatosis is caused by mutations in the hereditary hemochromatosis protein (HFE), transferrin-re
170 oteins such as iron regulatory proteins, the hereditary hemochromatosis protein (HFE)-transferrin rec
173 transferrin receptor-associated protein HFE (hereditary hemochromatosis protein), have been described
177 uvelin, bone morphogenetic protein 6 (BMP6), hereditary hemochromatosis protein, transferrin receptor
179 fy the clinical penetrance of HFE-associated hereditary hemochromatosis, raising the possibility that
180 ndividuals with primary iron overload due to hereditary hemochromatosis reduce morbidity and mortalit
181 he risk of hepatic fibrosis and cirrhosis in hereditary hemochromatosis relates to the degree of iron
182 Research addressing genetic screening for hereditary hemochromatosis remains insufficient to confi
183 n receptor 2 (TfR2) cause a rare form of the hereditary hemochromatosis, resulting in iron overload p
184 ts with iron overload from such disorders as hereditary hemochromatosis, thalassemia major, sickle ce
185 l condition resulting from disorders such as hereditary hemochromatosis, thalassemia, sickle cell dis
186 here groups at increased risk for developing hereditary hemochromatosis that can be readily identifie
188 been discussed for such diverse diseases as hereditary hemochromatosis, thrombophilias, familial can
190 ations in this gene result in a rare form of hereditary hemochromatosis unrelated to the hereditary h
192 ignated HFE (responsible for at least 83% of hereditary hemochromatosis), was associated with more ad
193 g of the underlying pathogenic mechanisms of hereditary hemochromatosis, we used a HFE gene knockout
197 m strain was isolated from a researcher with hereditary hemochromatosis who died from laboratory-acqu
198 , Bmp6-null mice have a phenotype resembling hereditary hemochromatosis, with reduced hepcidin expres