ライフサイエンスコーパス: hereditary hemochromatosis

1 osition in several organs similar to classic hereditary hemochromatosis.

2 FE gene knockout mouse model that replicates hereditary hemochromatosis.

3 sferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis.

4 nic hepatitis C, alcoholic liver disease, or 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 ocytes is the first stage of fibrogenesis in hereditary hemochromatosis.

8 thod of screening relatives of patients with hereditary hemochromatosis.

9 is upregulated in the iron overload disease, hereditary hemochromatosis.

10 d in patients with the iron overload disease hereditary hemochromatosis.

11 e mutated in the autosomal recessive disease hereditary hemochromatosis.

12 he disease-causing mutation in patients with hereditary hemochromatosis.

13 ed in patients with the iron storage disease hereditary hemochromatosis.

14 anism may play a role in the pathogenesis of hereditary hemochromatosis.

15 that is mutated in the iron-overload disease hereditary hemochromatosis.

16 on is the earliest phenotypic abnormality in hereditary hemochromatosis.

17 HFE gene that are associated with HLA-linked hereditary hemochromatosis.

18 e positional cloning of a candidate gene for hereditary hemochromatosis.

19 d-Blackfan anemia, sideroblastic anemia, and hereditary hemochromatosis.

20 of the natural history of iron deposition in hereditary hemochromatosis.

21 strains are available for the major forms of hereditary hemochromatosis.

22 iron overload disorders, collectively termed hereditary hemochromatosis.

23 iron overload, such as the thalassemias and hereditary hemochromatosis.

24 t common cause of the iron-overload disorder hereditary hemochromatosis.

25 recessive form of the iron overload disease, hereditary hemochromatosis.

26 eceptor 2 (TfR2) and HFE are associated with hereditary hemochromatosis.

27 crimination in the HFE gene, responsible for hereditary hemochromatosis.

28 It is defective in hereditary hemochromatosis.

29 n iron homeostasis and associated with human hereditary hemochromatosis.

30 idespread or high-risk genetic screening for hereditary hemochromatosis.

31 t for the prevention of iron accumulation in hereditary hemochromatosis.

32 anifestations reportedly seen in humans with hereditary hemochromatosis.

33 id not consistently identify a link to overt hereditary hemochromatosis.

34 ion in humans, showed a phenotype similar to hereditary hemochromatosis.

35 in patients with the iron overload disorder hereditary hemochromatosis.

36 isorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub

37 Mutations in TfR2 cause one form of hereditary hemochromatosis, a disease in which excessive

38 Hereditary hemochromatosis, an iron overload disease cau

39 Iron overload is the hallmark of hereditary hemochromatosis and a complication of iron-lo

40 Iron overload in hereditary hemochromatosis and beta-thalassemia intermed

41 the treatment of clinical conditions such as hereditary hemochromatosis and beta-thalassemia.

42 ause of iron overload in nearly all forms of hereditary hemochromatosis and in untransfused iron-load

43 cidin deficiency results in iron overload in hereditary hemochromatosis and ineffective erythropoiesi

44 matory events and iron dysfunctions, such as hereditary hemochromatosis and iron overload.

45 human disorders of iron metabolism, such as hereditary hemochromatosis and iron-refractory iron-defi

46 n expression is inappropriately decreased in hereditary hemochromatosis and is abnormally increased i

47 e relation between genotype and phenotype in hereditary hemochromatosis and other iron overload disor

48 New insights into the pathophysiology of hereditary hemochromatosis and the anaemia of chronic di

49 n refractory iron deficiency anemia, cancer, hereditary hemochromatosis, and ineffective erythropoies

50 ent evidence indicates that certain forms of hereditary hemochromatosis are caused by hepcidin defici

51 Patients with hereditary hemochromatosis are known to have an increase

52 article, the authors draw attention again to hereditary hemochromatosis as a cause of preventable org

53 A genetic definition of the common form of hereditary hemochromatosis became possible, and testing

54 of morbidity and mortality in patients with hereditary hemochromatosis, but the precise mechanisms l

55 a mutation equivalent to that seen in human hereditary hemochromatosis (C282Y) were compared with wi

56 e positional cloning of a candidate gene for hereditary hemochromatosis called HFE.

57 The protein defective in hereditary hemochromatosis, called HFE, is similar to MH

58 ssical ferroportin disease (FD) is a form of hereditary hemochromatosis caused by mutations in the ir

59 this time in population-based screening for hereditary hemochromatosis, due to uncertainties about p

60 has not previously considered screening for hereditary hemochromatosis for a recommendation as a cli

61 This situation is exemplified by hereditary hemochromatosis, for which up to 40% of at-ri

62 e that has been implicated to play a role in hereditary hemochromatosis, further strengthens the noti

63 Levels of type I hereditary hemochromatosis gene (HFE), transferrin, hepc

64 d homozygosity for the C282Y mutation in the hereditary hemochromatosis gene (HFE).

65 d homozygosity for the C282Y mutation in the hereditary hemochromatosis gene (HFE).

66 and two disease-associated SNPs in the human hereditary hemochromatosis gene.

67 of a single nucleotide polymorphism for the hereditary hemochromatosis gene.

68 multaneously detect multiple variants in the hereditary hemochromatosis gene.

69 Moreover, by analysis of hereditary hemochromatosis haplotypes, we show that Fine

70 The gene defective in patients with hereditary hemochromatosis has been identified, and much

71 our ability to make a molecular diagnosis of hereditary hemochromatosis has called attention to new i

72 gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagno

73 pathophysiology of such common disorders as hereditary hemochromatosis (HH) and the anaemia of chron

74 Approximately 85% of patients with typical hereditary hemochromatosis (HH) are homozygous for the C

75 Mutations in HFE lead to hereditary hemochromatosis (HH) because of inappropriate

76 (HFE) or transferrin receptor 2 (TFR2) cause hereditary hemochromatosis (HH) by impeding production o

77 Mutations in the hereditary hemochromatosis (hh) gene (HFE) explain the s

78 tly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y

79 Hereditary hemochromatosis (HH) is a common autosomal re

80 Hereditary hemochromatosis (HH) is a common autosomal re

81 Hereditary hemochromatosis (HH) is a common autosomal re

82 Hereditary hemochromatosis (HH) is a common autosomal re

83 Hereditary hemochromatosis (HH) is a common autosomal re

84 Hereditary hemochromatosis (HH) is a common autosomal-re

85 Hereditary hemochromatosis (HH) is a common chronic huma

86 Hereditary hemochromatosis (HH) is a common disorder of

87 Hereditary hemochromatosis (HH) is a common genetic diso

88 Hereditary hemochromatosis (HH) is a common inborn error

89 Hereditary hemochromatosis (HH) is a common inherited ir

90 Hereditary hemochromatosis (HH) is a disorder of iron me

91 Hereditary hemochromatosis (HH) is a highly prevalent ge

92 Hereditary hemochromatosis (HH) is a prevalent human dis

93 Hereditary hemochromatosis (HH) is an autosomal recessiv

94 Hereditary hemochromatosis (HH) is associated with an in

95 Hereditary hemochromatosis (HH) is characterized by incr

96 Hereditary hemochromatosis (HH) is the most common autos

97 Hereditary hemochromatosis (HH) leads to iron loading be

98 e-disequilibrium calculations to analyze the hereditary hemochromatosis (hh) locus.

99 ile decreased levels of hepcidin in a murine hereditary hemochromatosis (HH) model increased adipocyt

100 Type 2 hereditary hemochromatosis (HH) or juvenile hemochromato

101 Hereditary hemochromatosis (HH), an iron overload diseas

102 e positional cloning of a candidate gene for hereditary hemochromatosis (HH), called HLA-H, which is

103 In hereditary hemochromatosis (HH), intestinal absorption o

104 In murine Hfe and Tfr2 knockout models of hereditary hemochromatosis (HH), signal transduction to

105 lly cloning a candidate gene responsible for hereditary hemochromatosis (HH), we constructed a 1.1-Mb

106 for potential complications from HFE-related hereditary hemochromatosis (HH).

107 tations in HFE cause the most common form of hereditary hemochromatosis (HH).

108 Screening for hereditary hemochromatosis (HHC) by means of transferrin

109 Hereditary hemochromatosis (HHC) is an autosomal recessi

110 The prevalence of homozygous hereditary hemochromatosis (HHC) is estimated at 1:250 i

111 FE locus associated with the genetic disease hereditary hemochromatosis (HHC).

112 antifiable iron in the range of that seen in hereditary hemochromatosis (HHC).

113 useful to identify patients with homozygous hereditary hemochromatosis (HHC).

114 considered genetic screening for HFE-related hereditary hemochromatosis in C282Y homozygotes only.

115 ous mutations of this gene cause one form of hereditary hemochromatosis in humans.

116 DNA-based HFE gene testing can confirm hereditary hemochromatosis in most people of Northern Eu

117 y play a role in confirming the diagnosis of hereditary hemochromatosis in persons with elevated seru

118 e manifestations potentially attributable to hereditary hemochromatosis in primary care and subspecia

119 These causes of hereditary hemochromatosis include defects in genes enco

120 probability or susceptibility of developing hereditary hemochromatosis, including the relatives of i

121 that the pathogenesis of nearly all forms of hereditary hemochromatosis involves inappropriately low

122 Hereditary hemochromatosis is a common autosomal recessi

123 Hereditary hemochromatosis is a common inherited disorde

124 Hereditary hemochromatosis is a common iron-loading diso

125 Hereditary hemochromatosis is a genetic disorder of iron

126 Hereditary hemochromatosis is a heterogeneous group of g

127 Hereditary hemochromatosis is an autosomal recessive dis

128 Hereditary hemochromatosis is an inherited disorder of i

129 Hereditary hemochromatosis is an inherited pathological

130 Hereditary hemochromatosis is an iron overload disorder

131 Hereditary hemochromatosis is an iron-overload disorder

132 Hereditary hemochromatosis is caused by mutations in the

133 Hereditary hemochromatosis is characterized by tissue ir

134 Hereditary hemochromatosis is commonly found in populati

135 The gene that causes most cases of hereditary hemochromatosis is designated HFE.

136 ay for the C282Y substitution diagnostic for hereditary hemochromatosis is developed and evaluated us

137 irmed that disease penetrance in HFE-related hereditary hemochromatosis is lower than previously beli

138 Hereditary hemochromatosis is most commonly caused by ho

139 Hereditary hemochromatosis is now a complex entity with

140 Therapeutic phlebotomy for hereditary hemochromatosis is relatively safe and presum

141 Hereditary hemochromatosis is the most common genetic di

142 Screening for hereditary hemochromatosis is traditionally done by usin

143 Diagnosis of hereditary hemochromatosis is usually based on a combina

144 Thus, individuals with hereditary hemochromatosis may be protected with subunit

145 type, suggesting that hepatic iron levels in hereditary hemochromatosis may not accurately predict th

146 However, hereditary hemochromatosis may still cause morbidity and

147 ormone, hepcidin, are inappropriately low in hereditary hemochromatosis mouse models and patients wit

148 In hereditary hemochromatosis, mutations in HFE lead to iro

149 improve infection outcomes in patients with hereditary hemochromatosis or thalassemia.

150 ammation, infection, elevated liver enzymes, hereditary hemochromatosis, or cancer.

151 A1 in countries not normally associated with hereditary hemochromatosis (Pakistan, Bangladesh, Sri La

152 deline is to increase physician awareness of hereditary hemochromatosis, particularly the variable pe

153 Macrophages from hereditary hemochromatosis patients have altered iron me

154 mature into villus cells in the duodenum of hereditary hemochromatosis patients.

155 oduct of the gene that is mutated in >80% of hereditary hemochromatosis patients.

156 emochromatosis is caused by mutations in the hereditary hemochromatosis protein (HFE), transferrin-re

157 oteins such as iron regulatory proteins, the hereditary hemochromatosis protein (HFE)-transferrin rec

158 The hereditary hemochromatosis protein HFE promotes the expr

159 When stably transfected to express the hereditary hemochromatosis protein HFE these cells have

160 transferrin receptor-associated protein HFE (hereditary hemochromatosis protein), have been described

161 Lack of functional hereditary hemochromatosis protein, HFE, causes iron ove

162 The mechanisms by which the hereditary hemochromatosis protein, HFE, decreases trans

163 hereditary hemochromatosis unrelated to the hereditary hemochromatosis protein, HFE.

164 uvelin, bone morphogenetic protein 6 (BMP6), hereditary hemochromatosis protein, transferrin receptor

165 Actions of the hereditary hemochromatosis proteins HFE and transferrin

166 fy the clinical penetrance of HFE-associated hereditary hemochromatosis, raising the possibility that

167 ndividuals with primary iron overload due to hereditary hemochromatosis reduce morbidity and mortalit

168 he risk of hepatic fibrosis and cirrhosis in hereditary hemochromatosis relates to the degree of iron

169 Research addressing genetic screening for hereditary hemochromatosis remains insufficient to confi

170 n receptor 2 (TfR2) cause a rare form of the hereditary hemochromatosis, resulting in iron overload p

171 ts with iron overload from such disorders as hereditary hemochromatosis, thalassemia major, sickle ce

172 here groups at increased risk for developing hereditary hemochromatosis that can be readily identifie

173 Today, hereditary hemochromatosis, the paradigmatic iron-loadin

174 been discussed for such diverse diseases as hereditary hemochromatosis, thrombophilias, familial can

175 ations in this gene result in a rare form of hereditary hemochromatosis unrelated to the hereditary h

176 The prevalence of hereditary hemochromatosis was 1 in 169 patients to 1 in

177 ignated HFE (responsible for at least 83% of hereditary hemochromatosis), was associated with more ad

178 g of the underlying pathogenic mechanisms of hereditary hemochromatosis, we used a HFE gene knockout

179 riction fragment marker for the diagnosis of hereditary hemochromatosis were performed.

180 Hereditary hemochromatosis, which is characterized by in

181 Thus, patients with the common disease hereditary hemochromatosis, which is often caused by an

182 m strain was isolated from a researcher with hereditary hemochromatosis who died from laboratory-acqu

183 , Bmp6-null mice have a phenotype resembling hereditary hemochromatosis, with reduced hepcidin expres