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1 se associated with telomerase defects (e.g., dyskeratosis congenita).
2 '-O-methylation (2'-O-Me) to the etiology of dyskeratosis congenita.
3 Mutations in human Cbf5 (dyskerin) lead to dyskeratosis congenita.
4 d also may explain the mutational aspects of dyskeratosis congenita.
5 sing contribute to the phenotype of X-linked dyskeratosis congenita.
6 e marrow failure syndrome autosomal dominant dyskeratosis congenita.
7 This gene is abnormal in some kindreds with dyskeratosis congenita.
8 n two other families with autosomal dominant dyskeratosis congenita.
9 in, alteration of which leads to the disease dyskeratosis congenita.
10 kerin harbors many mutations associated with dyskeratosis congenita.
11 leading to bone marrow failure in hereditary dyskeratosis congenita.
12 ppear lower in DBA than in Fanconi anemia or dyskeratosis congenita.
13 l defect may underlie the pathophysiology of dyskeratosis congenita.
14 he wild type and in a mutant associated with dyskeratosis congenita.
15 matological and nonhematological features of dyskeratosis congenita.
16 rrow failure in the premature aging syndrome dyskeratosis congenita.
17 al telomerase components hTERT and hTR cause dyskeratosis congenita, a bone marrow failure syndrome c
18 Missense mutations in dyskerin result in dyskeratosis congenita, a complex syndrome characterized
19 These mice exhibit some characteristics of dyskeratosis congenita, a human stem cell depletion synd
21 RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder assoc
22 l dysplasia homolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by soma
23 CHH disease phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder.
24 G) present in one gene copy in a family with dyskeratosis congenita abrogates telomerase activity.
27 as recently shown to cause one form of human dyskeratosis congenita, an inherited disease marked by a
28 been seen in the autosomal dominant form of dyskeratosis congenita--an inherited syndrome characteri
30 se include the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloi
31 RNA gene in humans have been associated with dyskeratosis congenita and aplastic anemia, both typifie
35 een identified in monogenic diseases such as dyskeratosis congenita and idiopathic pulmonary fibrosis
36 This review highlights recent research on dyskeratosis congenita and its relevance to other fields
37 stics with telomere-associated diseases like Dyskeratosis congenita and mouse models with dysfunction
39 pair (Fanconi anemia), telomere maintenance (dyskeratosis congenita), and ribosome biogenesis (Diamon
40 complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, bo
41 the DKC1 gene, the gene mutated in X-linked dyskeratosis congenita, and is also part of the telomera
42 elomerase-specific hTR element is mutated in dyskeratosis congenita, and the disease-associated hTR s
43 mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were near
44 rthermore, patients with Fanconi's anemia or dyskeratosis congenita, another familial form of aplasti
45 -generation pedigree with autosomal dominant dyskeratosis congenita, anticipation, and telomere short
46 data show that the mutations associated with dyskeratosis congenita, aplastic anemia, and idiopathic
47 iated with the bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic
48 TERT) are associated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibro
49 kfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes character
51 genes have been described for patients with dyskeratosis congenita, bone marrow failure and idiopath
52 mutations that can cause autosomal recessive dyskeratosis congenita but have not found any GAR1 mutat
53 lial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita, but how PARN deficiency impairs
55 ital syndromes, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and T
56 ence data from six individuals with X-linked dyskeratosis congenita caused by an unknown disease-caus
57 ylation is severely reduced in patients with dyskeratosis congenita caused by inherited mutations in
59 ip of these phenotypes to the human syndrome Dyskeratosis congenita, caused by mutations in a Nop60B
60 elomere shortening is virtually universal in dyskeratosis congenita, caused by mutations in genes enc
61 al telomerase deficiency in the rare disease dyskeratosis congenita) causes tissue pathology, but und
66 use a range of incurable diseases, including dyskeratosis congenita (DC) and pulmonary fibrosis (PF).
71 Telomere biology disorders (TBDs) such as dyskeratosis congenita (DC) are rare, inherited diseases
72 mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of th
73 dyskerin) cause telomere diseases including dyskeratosis congenita (DC) by decreasing steady-state l
74 raal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow
75 mutations in H/ACA proteins associated with dyskeratosis congenita (DC) directly impair pseudouridin
76 Poikiloderma with Neutropenia (PN) for USB1, Dyskeratosis Congenita (DC) for PARN and Pontocerebellar
77 oni anemia (FA) genes; telomere maintenance: dyskeratosis congenita (DC) genes; and ribosome biogenes
78 of TERC, the telomerase RNA component, cause dyskeratosis congenita (DC) in patients harboring mutati
100 The progressive bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations
101 ve recently been identified in patients with dyskeratosis congenita (DC) or aplastic anemia (AA).
105 Mutations in DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by
109 cts telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder cha
110 ne mutations in telomere biology genes cause dyskeratosis congenita (DC), an inherited bone marrow fa
111 ster of mutations in TIN2 that gives rise to dyskeratosis congenita (DC), an inherited bone marrow fa
112 ly resemble those found in the human disease dyskeratosis congenita (DC), an inherited syndrome chara
113 the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (
114 ature of telomere biology disorders, such as dyskeratosis congenita (DC), for which there are no effe
115 of hTR and dyskerin that are associated with dyskeratosis congenita (DC), on the basis of clinical ge
116 ample, PARN mutations cause a severe form of dyskeratosis congenita (DC), wherein PARN deficiency lea
121 l clinical implications: it may be useful in dyskeratosis congenita diagnosis, in suggesting mutation
122 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shw
124 individuals with the rare inherited disorder dyskeratosis congenita (DKC) have reduced levels of telo
130 manifestations of the multisystem syndrome, dyskeratosis congenita, forms of which display defects i
134 e marrow failure of variable severity due to dyskeratosis congenita, historically characterised by as
136 ause a range of genetic disorders, including dyskeratosis congenita, idiopathic pulmonary fibrosis an
137 so far identified in patients with classical dyskeratosis congenita impact either directly or indirec
140 ysfunction may be the first manifestation of dyskeratosis congenita in children, and hTERC mutations
151 mponent of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene e
152 n the inherited bone marrow failure syndrome dyskeratosis congenita, is a specific component of all s
154 dimerisation potential and insertion of the dyskeratosis congenita mutation C408G led to a significa
156 over, our results show that the hairpin with dyskeratosis congenita mutations is more stable and less
157 these diseases, a significant proportion of dyskeratosis congenita mutations remain uncharacterized
158 ked form of the bone marrow failure syndrome dyskeratosis congenita, mutations in genes encoding telo
159 suggest that hTERC mutations associated with dyskeratosis congenita or aplastic anemia either impair
160 ase RNA variants discovered in patients with dyskeratosis congenita or aplastic anemia show loss of f
162 en in the undifferentiated state, iPSCs from dyskeratosis congenita patients harbour the precise bioc
165 ries are conserved but reduced in cells from dyskeratosis congenita patients, where the PUS DKC1 is m
169 ify NPM1 germline mutations in patients with dyskeratosis congenita presenting with bone marrow failu
170 is wide spectrum of disorders, which include dyskeratosis congenita, pulmonary fibrosis, and aplastic
171 criptase (TERT), cause the genetic disorders dyskeratosis congenita, pulmonary fibrosis, and other de
172 es, including Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic ane
175 nd the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hre
176 ast, mutation of dyskerin (DKC1) in X-linked dyskeratosis congenita severely impairs telomerase activ
178 linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocu
179 e telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres
180 mens afford better outcomes in patients with dyskeratosis congenita who require hematopoietic stem ce
181 potent stem cells (iPSCs) from patients with dyskeratosis congenita with PARN mutations, we show that
182 A Psi synthase, DKC1, is mutated in X-linked dyskeratosis congenita (X-DC) and Hoyeraal-Hreidarsson (
184 DKC1 is mutated in people with X-linked dyskeratosis congenita (X-DC), a disease characterized b
186 g of the FA-A (16q24.3), FA-D (3p22-26), and dyskeratosis congenita (Xq28) genes suggests this goal i