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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               The telomere biology disorders dyskeratosis congenita (DC) and its severe variant, Hoye
5 use a range of incurable diseases, including dyskeratosis congenita (DC) and pulmonary fibrosis (PF).
6                                              Dyskeratosis congenita (DC) and related diseases are a h
7  insights into TIN2, which is compromised in dyskeratosis congenita (DC) and related disorders.
8                                              Dyskeratosis congenita (DC) and related syndromes are in
9                                              Dyskeratosis congenita (DC) and related telomere biology
10    Telomere biology disorders (TBDs) such as dyskeratosis congenita (DC) are rare, inherited diseases
11  mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of th
12  dyskerin) cause telomere diseases including dyskeratosis congenita (DC) by decreasing steady-state l
13 raal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow
14  mutations in H/ACA proteins associated with dyskeratosis congenita (DC) directly impair pseudouridin
15 Poikiloderma with Neutropenia (PN) for USB1, Dyskeratosis Congenita (DC) for PARN and Pontocerebellar
16 oni anemia (FA) genes; telomere maintenance: dyskeratosis congenita (DC) genes; and ribosome biogenes
17 of TERC, the telomerase RNA component, cause dyskeratosis congenita (DC) in patients harboring mutati
18                                     X-linked dyskeratosis congenita (DC) is a bone marrow failure syn
19                                              Dyskeratosis congenita (DC) is a genetic disorder of def
20                                              Dyskeratosis congenita (DC) is a multisystem bone marrow
21                                              Dyskeratosis congenita (DC) is a multisystem bone marrow
22                                              Dyskeratosis congenita (DC) is a progressive and heterog
23                                     X-linked dyskeratosis congenita (DC) is a rare bone marrow failur
24                                              Dyskeratosis congenita (DC) is a rare genetic disorder c
25                                              Dyskeratosis congenita (DC) is a rare inherited bone mar
26                                              Dyskeratosis congenita (DC) is a rare inherited bone mar
27                                              Dyskeratosis congenita (DC) is a rare inherited form of
28                                              Dyskeratosis congenita (DC) is an inherited BM failure d
29                                              Dyskeratosis congenita (DC) is an inherited bone marrow
30                                              Dyskeratosis congenita (DC) is an inherited bone marrow
31                                              Dyskeratosis congenita (DC) is an inherited bone marrow
32                                              Dyskeratosis congenita (DC) is an inherited bone marrow
33                                              Dyskeratosis congenita (DC) is an inherited bone marrow
34                                              Dyskeratosis congenita (DC) is an inherited bone-marrow-
35                                              Dyskeratosis congenita (DC) is an inherited disorder wit
36                                              Dyskeratosis congenita (DC) is an inherited multisystem
37                                              Dyskeratosis congenita (DC) is an inherited poikiloderma
38                                              Dyskeratosis congenita (DC) is characterized by multiple
39 The progressive bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations
40 ve recently been identified in patients with dyskeratosis congenita (DC) or aplastic anemia (AA).
41                                              Dyskeratosis congenita (DC) patients suffer a progressiv
42                                Patients with dyskeratosis congenita (DC) suffer from stem cell failur
43                      Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by
44      Mutations in DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by
45                                Patients with dyskeratosis congenita (DC), a disorder of telomere main
46                                Patients with dyskeratosis congenita (DC), a heterogeneous inherited b
47                               A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder ass
48 cts telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder cha
49 ne mutations in telomere biology genes cause dyskeratosis congenita (DC), an inherited bone marrow fa
50 ster of mutations in TIN2 that gives rise to dyskeratosis congenita (DC), an inherited bone marrow fa
51 ly resemble those found in the human disease dyskeratosis congenita (DC), an inherited syndrome chara
52  the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (
53 ature of telomere biology disorders, such as dyskeratosis congenita (DC), for which there are no effe
54 of hTR and dyskerin that are associated with dyskeratosis congenita (DC), on the basis of clinical ge
55 ample, PARN mutations cause a severe form of dyskeratosis congenita (DC), wherein PARN deficiency lea
56 ause a severe form of the hereditary disease dyskeratosis congenita (DC).
57 se the skin and bone marrow failure syndrome dyskeratosis congenita (DC).
58  inherited bone marrow (BM) failure syndrome dyskeratosis congenita (DC).
59 esult in stem cell failure diseases, such as dyskeratosis congenita (DC).
60 individuals with the rare inherited disorder dyskeratosis congenita (DKC) have reduced levels of telo
61       The X-linked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in t
62                           Autosomal dominant dyskeratosis congenita (DKC), as well as aplastic anemia
63 ic anemia and the autosomal dominant form of dyskeratosis congenita (DKC).
64 erase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC).
65 A Psi synthase, DKC1, is mutated in X-linked dyskeratosis congenita (X-DC) and Hoyeraal-Hreidarsson (
66                      One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, en
67      DKC1 is mutated in people with X-linked dyskeratosis congenita (X-DC), a disease characterized b
68 sceptibility in the human syndrome, X-linked dyskeratosis congenita (X-DC).
69 g of the FA-A (16q24.3), FA-D (3p22-26), and dyskeratosis congenita (Xq28) genes suggests this goal i
70 G) present in one gene copy in a family with dyskeratosis congenita abrogates telomerase activity.
71 ciated with degenerative syndromes including dyskeratosis congenita and aplastic anaemia.
72 se include the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloi
73 RNA gene in humans have been associated with dyskeratosis congenita and aplastic anemia, both typifie
74 n identified and shown to be associated with dyskeratosis congenita and aplastic anemia.
75 lopment of premature aging diseases, such as dyskeratosis congenita and aplastic anemia.
76 omerase is impaired in the stem cell disease dyskeratosis congenita and during human aging.
77 een identified in monogenic diseases such as dyskeratosis congenita and idiopathic pulmonary fibrosis
78    This review highlights recent research on dyskeratosis congenita and its relevance to other fields
79 stics with telomere-associated diseases like Dyskeratosis congenita and mouse models with dysfunction
80 telomerase RNA (hTR) species and precipitate dyskeratosis congenita and pulmonary fibrosis.
81 kfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes character
82                DKC1 mutations in the disease dyskeratosis congenita are thought to act via this mecha
83 mutations that can cause autosomal recessive dyskeratosis congenita but have not found any GAR1 mutat
84                Recent work demonstrates that dyskeratosis congenita can also arise from mutations in
85 ence data from six individuals with X-linked dyskeratosis congenita caused by an unknown disease-caus
86 ylation is severely reduced in patients with dyskeratosis congenita caused by inherited mutations in
87                      In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (als
88                                              Dyskeratosis congenita cells age prematurely and have ve
89 l clinical implications: it may be useful in dyskeratosis congenita diagnosis, in suggesting mutation
90             Families with autosomal dominant dyskeratosis congenita display anticipation and have mut
91 , the RNA template, cause autosomal dominant dyskeratosis congenita due to telomere shortening.
92                             Mice harboring a dyskeratosis congenita germline Npm1 mutation recapitula
93                                   Studies of dyskeratosis congenita have shed light on the pathobiolo
94 so far identified in patients with classical dyskeratosis congenita impact either directly or indirec
95         Here we map the gene responsible for dyskeratosis congenita in a large pedigree with autosoma
96 ysfunction may be the first manifestation of dyskeratosis congenita in children, and hTERC mutations
97  not identify any of the classic features of dyskeratosis congenita in five of the six families.
98                                              Dyskeratosis congenita is a premature aging syndrome cha
99                                              Dyskeratosis congenita is a progressive bone-marrow fail
100                                              Dyskeratosis congenita is a rare inherited disorder char
101                                              Dyskeratosis congenita is an inherited BM failure syndro
102                           Autosomal-dominant dyskeratosis congenita is associated with heterozygous m
103                           Autosomal dominant dyskeratosis congenita is associated with mutations in t
104                          The hypothesis that dyskeratosis congenita is caused by a defect in IRES-med
105                                              Dyskeratosis congenita is characterized by a mucocutaneo
106                                              Dyskeratosis congenita is characterized by defective mai
107 mponent of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene e
108                   Genetic testing for occult dyskeratosis congenita may be warranted in selected pati
109  dimerisation potential and insertion of the dyskeratosis congenita mutation C408G led to a significa
110                    We have also identified a dyskeratosis congenita mutation cluster site within a mo
111 over, our results show that the hairpin with dyskeratosis congenita mutations is more stable and less
112  these diseases, a significant proportion of dyskeratosis congenita mutations remain uncharacterized
113 suggest that hTERC mutations associated with dyskeratosis congenita or aplastic anemia either impair
114 ase RNA variants discovered in patients with dyskeratosis congenita or aplastic anemia show loss of f
115                Blood counts of patients with dyskeratosis congenita or aplastic anemia with mutations
116 en in the undifferentiated state, iPSCs from dyskeratosis congenita patients harbour the precise bioc
117                                         Many dyskeratosis congenita patients remain uncharacterized.
118                 These findings in iPSCs from dyskeratosis congenita patients reveal that undifferenti
119 ries are conserved but reduced in cells from dyskeratosis congenita patients, where the PUS DKC1 is m
120 s, and testes that resembled defects seen in dyskeratosis congenita patients.
121 milar process occurs in tissue stem cells in dyskeratosis congenita patients.
122 mune defects that resembled those present in dyskeratosis congenita patients.
123 ify NPM1 germline mutations in patients with dyskeratosis congenita presenting with bone marrow failu
124                                              Dyskeratosis congenita related telomere biology disorder
125 ast, mutation of dyskerin (DKC1) in X-linked dyskeratosis congenita severely impairs telomerase activ
126 mens afford better outcomes in patients with dyskeratosis congenita who require hematopoietic stem ce
127 potent stem cells (iPSCs) from patients with dyskeratosis congenita with PARN mutations, we show that
128 al telomerase deficiency in the rare disease dyskeratosis congenita) causes tissue pathology, but und
129 pair (Fanconi anemia), telomere maintenance (dyskeratosis congenita), and ribosome biogenesis (Diamon
130 se associated with telomerase defects (e.g., dyskeratosis congenita).
131 al telomerase components hTERT and hTR cause dyskeratosis congenita, a bone marrow failure syndrome c
132     Missense mutations in dyskerin result in dyskeratosis congenita, a complex syndrome characterized
133   These mice exhibit some characteristics of dyskeratosis congenita, a human stem cell depletion synd
134                                              Dyskeratosis congenita, a rare condition characterized b
135  RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder assoc
136 l dysplasia homolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by soma
137  CHH disease phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder.
138                                              Dyskeratosis congenita, an inherited bone marrow failure
139 as recently shown to cause one form of human dyskeratosis congenita, an inherited disease marked by a
140 complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, bo
141  the DKC1 gene, the gene mutated in X-linked dyskeratosis congenita, and is also part of the telomera
142 elomerase-specific hTR element is mutated in dyskeratosis congenita, and the disease-associated hTR s
143  mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were near
144 rthermore, patients with Fanconi's anemia or dyskeratosis congenita, another familial form of aplasti
145 -generation pedigree with autosomal dominant dyskeratosis congenita, anticipation, and telomere short
146 data show that the mutations associated with dyskeratosis congenita, aplastic anemia, and idiopathic
147 iated with the bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic
148 TERT) are associated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibro
149  genes have been described for patients with dyskeratosis congenita, bone marrow failure and idiopath
150 lial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita, but how PARN deficiency impairs
151 ital syndromes, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and T
152 ip of these phenotypes to the human syndrome Dyskeratosis congenita, caused by mutations in a Nop60B
153 elomere shortening is virtually universal in dyskeratosis congenita, caused by mutations in genes enc
154                     As in Fanconi anemia and dyskeratosis congenita, DBA is both an inherited bone ma
155  most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shw
156  manifestations of the multisystem syndrome, dyskeratosis congenita, forms of which display defects i
157              RTEL1, an established locus for dyskeratosis congenita, harbored significantly more new
158 e marrow failure of variable severity due to dyskeratosis congenita, historically characterised by as
159           Telomere biology disorders include dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, C
160 ause a range of genetic disorders, including dyskeratosis congenita, idiopathic pulmonary fibrosis an
161               Short telomeres, a hallmark of dyskeratosis congenita, impair tissue stem cell function
162 n the inherited bone marrow failure syndrome dyskeratosis congenita, is a specific component of all s
163 ked form of the bone marrow failure syndrome dyskeratosis congenita, mutations in genes encoding telo
164 is wide spectrum of disorders, which include dyskeratosis congenita, pulmonary fibrosis, and aplastic
165 criptase (TERT), cause the genetic disorders dyskeratosis congenita, pulmonary fibrosis, and other de
166 es, including Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic ane
167 ayne syndrome, Warsaw breakage syndrome, and dyskeratosis congenita, respectively.
168 nd the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hre
169                      In the genetic disorder dyskeratosis congenita, telomere shortening is accelerat
170 linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocu
171 e telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres
172  been seen in the autosomal dominant form of dyskeratosis congenita--an inherited syndrome characteri
173 '-O-methylation (2'-O-Me) to the etiology of dyskeratosis congenita.
174   Mutations in human Cbf5 (dyskerin) lead to dyskeratosis congenita.
175 d also may explain the mutational aspects of dyskeratosis congenita.
176 sing contribute to the phenotype of X-linked dyskeratosis congenita.
177 e marrow failure syndrome autosomal dominant dyskeratosis congenita.
178  This gene is abnormal in some kindreds with dyskeratosis congenita.
179 n two other families with autosomal dominant dyskeratosis congenita.
180 in, alteration of which leads to the disease dyskeratosis congenita.
181 kerin harbors many mutations associated with dyskeratosis congenita.
182 leading to bone marrow failure in hereditary dyskeratosis congenita.
183 ppear lower in DBA than in Fanconi anemia or dyskeratosis congenita.
184 l defect may underlie the pathophysiology of dyskeratosis congenita.
185 he wild type and in a mutant associated with dyskeratosis congenita.
186 matological and nonhematological features of dyskeratosis congenita.
187 rrow failure in the premature aging syndrome dyskeratosis congenita.
188  Our initial differential diagnosis included dyskeratosis follicularis Darier, allergic contact derma
189            Hereditary benign intraepithelial dyskeratosis (HBID) is an autosomal dominant disorder ch
190 ect on cell viability and may have modulated dyskeratosis of the epidermis.

 
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