ライフサイエンスコーパス: dyskeratosis

1 s verruciformis lesions shows no evidence of dyskeratosis, a possible relationship with Darier's dise

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

3 Dyskeratosis congenita (DC) and its phenotypically sever

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

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

6 Dyskeratosis congenita (DC) and related syndromes are in

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

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

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

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

11 Dyskeratosis congenita (DC) is a multisystem bone marrow

12 Dyskeratosis congenita (DC) is a multisystem bone marrow

13 Dyskeratosis congenita (DC) is a progressive and heterog

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

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

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

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

18 Dyskeratosis congenita (DC) is an inherited bone marrow

19 Dyskeratosis congenita (DC) is an inherited bone marrow

20 Dyskeratosis congenita (DC) is an inherited bone marrow

21 Dyskeratosis congenita (DC) is an inherited bone marrow

22 Dyskeratosis congenita (DC) is an inherited bone marrow

23 Dyskeratosis congenita (DC) is an inherited disorder wit

24 Dyskeratosis congenita (DC) is an inherited multisystem

25 Dyskeratosis congenita (DC) is an inherited poikiloderma

26 Dyskeratosis congenita (DC) is characterized by multiple

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

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

29 Dyskeratosis congenita (DC) patients suffer a progressiv

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

70 Dyskeratosis congenita cells age prematurely and have ve

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

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

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

74 Studies of dyskeratosis congenita have shed light on the pathobiolo

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

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

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

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

79 Dyskeratosis congenita is a premature aging syndrome cha

80 Dyskeratosis congenita is a progressive bone-marrow fail

81 Dyskeratosis congenita is a rare inherited disorder char

82 Dyskeratosis congenita is an inherited BM failure syndro

83 Autosomal-dominant dyskeratosis congenita is associated with heterozygous m

84 Autosomal dominant dyskeratosis congenita is associated with mutations in t

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

86 Dyskeratosis congenita is characterized by a mucocutaneo

87 Dyskeratosis congenita is characterized by defective mai

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

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

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

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

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

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

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

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

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

97 Many dyskeratosis congenita patients remain uncharacterized.

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

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

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

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

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

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

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

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

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

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

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

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

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

111 Dyskeratosis congenita, a rare condition characterized b

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

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

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

115 Dyskeratosis congenita, an inherited bone marrow failure

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

149 e marrow failure syndrome autosomal dominant dyskeratosis congenita.

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

151 kerin harbors many mutations associated with dyskeratosis congenita.

152 n two other families with autosomal dominant dyskeratosis congenita.

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

154 leading to bone marrow failure in hereditary dyskeratosis congenita.

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

156 l defect may underlie the pathophysiology of dyskeratosis congenita.

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

158 rrow failure in the premature aging syndrome dyskeratosis congenita.

159 Our initial differential diagnosis included dyskeratosis follicularis Darier, allergic contact derma

160 Hereditary benign intraepithelial dyskeratosis (HBID) is an autosomal dominant disorder ch

161 ect on cell viability and may have modulated dyskeratosis of the epidermis.