ライフサイエンスコーパス: dyskeratosis congenita

1 se associated with telomerase defects (e.g., dyskeratosis congenita).

2 Mutations in human Cbf5 (dyskerin) lead to dyskeratosis congenita.

3 d also may explain the mutational aspects of dyskeratosis congenita.

4 sing contribute to the phenotype of X-linked dyskeratosis congenita.

5 e marrow failure syndrome autosomal dominant dyskeratosis congenita.

6 This gene is abnormal in some kindreds with dyskeratosis congenita.

7 n two other families with autosomal dominant dyskeratosis congenita.

8 kerin harbors many mutations associated with dyskeratosis congenita.

9 in, alteration of which leads to the disease dyskeratosis congenita.

10 leading to bone marrow failure in hereditary dyskeratosis congenita.

11 ppear lower in DBA than in Fanconi anemia or dyskeratosis congenita.

12 l defect may underlie the pathophysiology of dyskeratosis congenita.

13 he wild type and in a mutant associated with dyskeratosis congenita.

14 rrow failure in the premature aging syndrome dyskeratosis congenita.

15 al telomerase components hTERT and hTR cause dyskeratosis congenita, a bone marrow failure syndrome c

16 Missense mutations in dyskerin result in dyskeratosis congenita, a complex syndrome characterized

17 These mice exhibit some characteristics of dyskeratosis congenita, a human stem cell depletion synd

18 Dyskeratosis congenita, a rare condition characterized b

19 RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder assoc

20 l dysplasia homolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by soma

21 CHH disease phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder.

22 G) present in one gene copy in a family with dyskeratosis congenita abrogates telomerase activity.

23 Autosomal dominant dyskeratosis congenita (AD DC), a rare inherited bone ma

24 Dyskeratosis congenita, an inherited bone marrow failure

25 as recently shown to cause one form of human dyskeratosis congenita, an inherited disease marked by a

26 been seen in the autosomal dominant form of dyskeratosis congenita--an inherited syndrome characteri

27 ciated with degenerative syndromes including dyskeratosis congenita and aplastic anaemia.

28 se include the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloi

29 RNA gene in humans have been associated with dyskeratosis congenita and aplastic anemia, both typifie

30 n identified and shown to be associated with dyskeratosis congenita and aplastic anemia.

31 lopment of premature aging diseases, such as dyskeratosis congenita and aplastic anemia.

32 omerase is impaired in the stem cell disease dyskeratosis congenita and during human aging.

33 een identified in monogenic diseases such as dyskeratosis congenita and idiopathic pulmonary fibrosis

34 This review highlights recent research on dyskeratosis congenita and its relevance to other fields

35 stics with telomere-associated diseases like Dyskeratosis congenita and mouse models with dysfunction

36 complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, bo

37 the DKC1 gene, the gene mutated in X-linked dyskeratosis congenita, and is also part of the telomera

38 elomerase-specific hTR element is mutated in dyskeratosis congenita, and the disease-associated hTR s

39 mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were near

40 rthermore, patients with Fanconi's anemia or dyskeratosis congenita, another familial form of aplasti

41 -generation pedigree with autosomal dominant dyskeratosis congenita, anticipation, and telomere short

42 data show that the mutations associated with dyskeratosis congenita, aplastic anemia, and idiopathic

43 iated with the bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic

44 TERT) are associated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibro

45 kfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes character

46 DKC1 mutations in the disease dyskeratosis congenita are thought to act via this mecha

47 genes have been described for patients with dyskeratosis congenita, bone marrow failure and idiopath

48 mutations that can cause autosomal recessive dyskeratosis congenita but have not found any GAR1 mutat

49 lial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita, but how PARN deficiency impairs

50 Recent work demonstrates that dyskeratosis congenita can also arise from mutations in

51 ital syndromes, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and T

52 ence data from six individuals with X-linked dyskeratosis congenita caused by an unknown disease-caus

53 In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (als

54 ip of these phenotypes to the human syndrome Dyskeratosis congenita, caused by mutations in a Nop60B

55 elomere shortening is virtually universal in dyskeratosis congenita, caused by mutations in genes enc

56 al telomerase deficiency in the rare disease dyskeratosis congenita) causes tissue pathology, but und

57 Dyskeratosis congenita cells age prematurely and have ve

58 As in Fanconi anemia and dyskeratosis congenita, DBA is both an inherited bone ma

59 Dyskeratosis congenita (DC) and its phenotypically sever

60 Dyskeratosis congenita (DC) and related diseases are a h

61 insights into TIN2, which is compromised in dyskeratosis congenita (DC) and related disorders.

62 Dyskeratosis congenita (DC) and related syndromes are in

63 mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of th

64 raal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow

65 X-linked dyskeratosis congenita (DC) is a bone marrow failure syn

66 Dyskeratosis congenita (DC) is a genetic disorder of def

67 Dyskeratosis congenita (DC) is a multisystem bone marrow

68 Dyskeratosis congenita (DC) is a multisystem bone marrow

69 Dyskeratosis congenita (DC) is a progressive and heterog

70 X-linked dyskeratosis congenita (DC) is a rare bone marrow failur

71 Dyskeratosis congenita (DC) is a rare inherited bone mar

72 Dyskeratosis congenita (DC) is a rare inherited form of

73 Dyskeratosis congenita (DC) is an inherited BM failure d

74 Dyskeratosis congenita (DC) is an inherited bone marrow

75 Dyskeratosis congenita (DC) is an inherited bone marrow

76 Dyskeratosis congenita (DC) is an inherited bone marrow

77 Dyskeratosis congenita (DC) is an inherited bone marrow

78 Dyskeratosis congenita (DC) is an inherited bone marrow

79 Dyskeratosis congenita (DC) is an inherited disorder wit

80 Dyskeratosis congenita (DC) is an inherited multisystem

81 Dyskeratosis congenita (DC) is an inherited poikiloderma

82 Dyskeratosis congenita (DC) is characterized by multiple

83 The progressive bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations

84 ve recently been identified in patients with dyskeratosis congenita (DC) or aplastic anemia (AA).

85 Dyskeratosis congenita (DC) patients suffer a progressiv

86 Patients with dyskeratosis congenita (DC) suffer from stem cell failur

87 Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by

88 Patients with dyskeratosis congenita (DC), a disorder of telomere main

89 Patients with dyskeratosis congenita (DC), a heterogeneous inherited b

90 A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder ass

91 cts telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder cha

92 ne mutations in telomere biology genes cause dyskeratosis congenita (DC), an inherited bone marrow fa

93 ster of mutations in TIN2 that gives rise to dyskeratosis congenita (DC), an inherited bone marrow fa

94 ly resemble those found in the human disease dyskeratosis congenita (DC), an inherited syndrome chara

95 the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (

96 of hTR and dyskerin that are associated with dyskeratosis congenita (DC), on the basis of clinical ge

97 ample, PARN mutations cause a severe form of dyskeratosis congenita (DC), wherein PARN deficiency lea

98 se the skin and bone marrow failure syndrome dyskeratosis congenita (DC).

99 esult in stem cell failure diseases, such as dyskeratosis congenita (DC).

100 l clinical implications: it may be useful in dyskeratosis congenita diagnosis, in suggesting mutation

101 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shw

102 Families with autosomal dominant dyskeratosis congenita display anticipation and have mut

103 individuals with the rare inherited disorder dyskeratosis congenita (DKC) have reduced levels of telo

104 The X-linked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in t

105 Autosomal dominant dyskeratosis congenita (DKC), as well as aplastic anemia

106 ic anemia and the autosomal dominant form of dyskeratosis congenita (DKC).

107 erase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC).

108 , the RNA template, cause autosomal dominant dyskeratosis congenita due to telomere shortening.

109 manifestations of the multisystem syndrome, dyskeratosis congenita, forms of which display defects i

110 RTEL1, an established locus for dyskeratosis congenita, harbored significantly more new

111 Studies of dyskeratosis congenita have shed light on the pathobiolo

112 e marrow failure of variable severity due to dyskeratosis congenita, historically characterised by as

113 so far identified in patients with classical dyskeratosis congenita impact either directly or indirec

114 Short telomeres, a hallmark of dyskeratosis congenita, impair tissue stem cell function

115 Here we map the gene responsible for dyskeratosis congenita in a large pedigree with autosoma

116 ysfunction may be the first manifestation of dyskeratosis congenita in children, and hTERC mutations

117 not identify any of the classic features of dyskeratosis congenita in five of the six families.

118 Dyskeratosis congenita is a premature aging syndrome cha

119 Dyskeratosis congenita is a progressive bone-marrow fail

120 Dyskeratosis congenita is a rare inherited disorder char

121 Dyskeratosis congenita is an inherited BM failure syndro

122 Autosomal-dominant dyskeratosis congenita is associated with heterozygous m

123 Autosomal dominant dyskeratosis congenita is associated with mutations in t

124 The hypothesis that dyskeratosis congenita is caused by a defect in IRES-med

125 Dyskeratosis congenita is characterized by a mucocutaneo

126 Dyskeratosis congenita is characterized by defective mai

127 mponent of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene e

128 Genetic testing for occult dyskeratosis congenita may be warranted in selected pati

129 dimerisation potential and insertion of the dyskeratosis congenita mutation C408G led to a significa

130 We have also identified a dyskeratosis congenita mutation cluster site within a mo

131 over, our results show that the hairpin with dyskeratosis congenita mutations is more stable and less

132 ked form of the bone marrow failure syndrome dyskeratosis congenita, mutations in genes encoding telo

133 suggest that hTERC mutations associated with dyskeratosis congenita or aplastic anemia either impair

134 ase RNA variants discovered in patients with dyskeratosis congenita or aplastic anemia show loss of f

135 Blood counts of patients with dyskeratosis congenita or aplastic anemia with mutations

136 en in the undifferentiated state, iPSCs from dyskeratosis congenita patients harbour the precise bioc

137 Many dyskeratosis congenita patients remain uncharacterized.

138 These findings in iPSCs from dyskeratosis congenita patients reveal that undifferenti

139 ries are conserved but reduced in cells from dyskeratosis congenita patients, where the PUS DKC1 is m

140 s, and testes that resembled defects seen in dyskeratosis congenita patients.

141 milar process occurs in tissue stem cells in dyskeratosis congenita patients.

142 mune defects that resembled those present in dyskeratosis congenita patients.

143 criptase (TERT), cause the genetic disorders dyskeratosis congenita, pulmonary fibrosis, and other de

144 es, including Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic ane

145 ayne syndrome, Warsaw breakage syndrome, and dyskeratosis congenita, respectively.

146 nd the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hre

147 ast, mutation of dyskerin (DKC1) in X-linked dyskeratosis congenita severely impairs telomerase activ

148 In the genetic disorder dyskeratosis congenita, telomere shortening is accelerat

149 linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocu

150 e telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres

151 mens afford better outcomes in patients with dyskeratosis congenita who require hematopoietic stem ce

152 potent stem cells (iPSCs) from patients with dyskeratosis congenita with PARN mutations, we show that

153 A Psi synthase, DKC1, is mutated in X-linked dyskeratosis congenita (X-DC) and Hoyeraal-Hreidarsson (

154 One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, en

155 DKC1 is mutated in people with X-linked dyskeratosis congenita (X-DC), a disease characterized b

156 sceptibility in the human syndrome, X-linked dyskeratosis congenita (X-DC).

157 g of the FA-A (16q24.3), FA-D (3p22-26), and dyskeratosis congenita (Xq28) genes suggests this goal i