ライフサイエンスコーパス: congenita

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

2 K) severely impairs mobility in pachyonychia congenita.

3 and in a mutant associated with dyskeratosis congenita.

4 in the premature aging syndrome dyskeratosis congenita.

5 e human cold-sensitive disorder paramyotonia congenita.

6 tic agents for the treatment of pachyonychia congenita.

7 n human Cbf5 (dyskerin) lead to dyskeratosis congenita.

8 plain the mutational aspects of dyskeratosis congenita.

9 te to the phenotype of X-linked dyskeratosis congenita.

10 ure syndrome autosomal dominant dyskeratosis congenita.

11 abnormal in some kindreds with dyskeratosis congenita.

12 med in muscle from a mouse model of myotonia congenita.

13 d with the skeletal muscle disorder myotonia congenita.

14 amilies with autosomal dominant dyskeratosis congenita.

15 n of which leads to the disease dyskeratosis congenita.

16 ith the inherited muscular disorder myotonia congenita.

17 ight be a contributing cause of paramyotonia congenita.

18 nel deactivation contributes to paramyotonia congenita.

19 ne muscular dystrophy and adrenal hypoplasia congenita.

20 responsible for X-linked adrenal hypoplasia congenita.

21 many mutations associated with dyskeratosis congenita.

22 tial for treatment of patients with myotonia congenita.

23 d to the hereditary muscle disorder myotonia congenita.

24 affected by lethal arthrogryposis multiplex congenita.

25 ction of warmup in a mouse model of myotonia congenita.

26 ne marrow failure in hereditary dyskeratosis congenita.

27 n DBA than in Fanconi anemia or dyskeratosis congenita.

28 warming was useful in patients with myotonia congenita.

29 es may be seen in patients with paramyotonia congenita.

30 dicted sodium channel myotonia over myotonia congenita.

31 es that strongly resemble human syskeratosis congenita.

32 underlie the pathophysiology of dyskeratosis congenita.

33 components hTERT and hTR cause dyskeratosis congenita, a bone marrow failure syndrome characterized

34 mutations in dyskerin result in dyskeratosis congenita, a complex syndrome characterized by bone marr

35 exhibit some characteristics of dyskeratosis congenita, a human stem cell depletion syndrome caused b

36 Dyskeratosis congenita, a rare condition characterized by mucocutaneo

37 ively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with pr

38 omolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by somatic stem cell

39 phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder." RMRP binds

40 ited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by m

41 one gene copy in a family with dyskeratosis congenita abrogates telomerase activity.

42 cterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TT

43 aracterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-re

44 tracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm presents a clini

45 Autosomal dominant dyskeratosis congenita (AD DC), a rare inherited bone marrow failure

46 human AHC cause X-linked, adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH).

47 nsible for human X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH).

48 e-sensitive sex reversal, adrenal hypoplasia congenita (AHC) critical region on the X chromosome, gen

49 Adrenal hypoplasia congenita (AHC) is an X-linked disorder that typically p

50 X-linked adrenal hypoplasia congenita (AHC) with hypogonadotropic hypogonadism was r

51 e human disorder X-linked adrenal hypoplasia congenita (AHC), which resembles the phenotype of SF-1-d

52 ations result in X-linked adrenal hypoplasia congenita (AHC).

53 adrenal hyperplasia, and adrenal hypoplasia congenita all cause aldosterone deficiency, signs of whi

54 Arthrogryposis multiplex congenita (AMC) is a developmental condition characteriz

55 Arthrogryposis multiplex congenita (AMC), a clinical syndrome characterized by mu

56 l recessive form of arthrogryposis multiplex congenita (AMC).

57 Dyskeratosis congenita, an inherited bone marrow failure syndrome ass

58 hown to cause one form of human dyskeratosis congenita, an inherited disease marked by abnormal telom

59 clear receptor gene cause adrenal hypoplasia congenita, an X-linked disorder characterized by adrenal

60 the autosomal dominant form of dyskeratosis congenita--an inherited syndrome characterised by aplast

61 egenerative syndromes including dyskeratosis congenita and aplastic anaemia.

62 e bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloid leukemia, l

63 umans have been associated with dyskeratosis congenita and aplastic anemia, both typified by impaired

64 and shown to be associated with dyskeratosis congenita and aplastic anemia.

65 emature aging diseases, such as dyskeratosis congenita and aplastic anemia.

66 dism in males affected by adrenal hypoplasia congenita and are consistent with a role for DAX1 in gon

67 paired in the stem cell disease dyskeratosis congenita and during human aging.

68 n, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an undergrowth devel

69 other muscle disorders such as paramyotonia congenita and hyperkalemic periodic paralysis, our study

70 d in monogenic diseases such as dyskeratosis congenita and idiopathic pulmonary fibrosis, which are a

71 w highlights recent research on dyskeratosis congenita and its relevance to other fields, including c

72 epidermolysis bullosa simplex, pachyonychia congenita and Messmann epithelial corneal dystrophy-caus

73 lomere-associated diseases like Dyskeratosis congenita and mouse models with dysfunctional telomeres,

74 of >20% were 100% specific for paramyotonia congenita and myotonia congenita, respectively.

75 key cause of severe arthrogryposis multiplex congenita and suggests that GPR126 mutations should be i

76 1) (mutation T268M in ClC-1 causing myotonia congenita) and replaces the mutant-containing 3' portion

77 can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, both diseases t

78 mplications for drug therapy of paramyotonia congenita, and also provide an insight into structural r

79 e, the gene mutated in X-linked dyskeratosis congenita, and is also part of the telomerase complex.

80 perkalaemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia are three a

81 c periodic paralysis (HyperPP), paramyotonia congenita, and potassium-aggravated myotonia.

82 cific hTR element is mutated in dyskeratosis congenita, and the disease-associated hTR substitution i

83 yperkalemic periodic paralysis, paramyotonia congenita, and the potassium-aggravated myotonias.

84 did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, bu

85 tients with Fanconi's anemia or dyskeratosis congenita, another familial form of aplastic anemia, hav

86 edigree with autosomal dominant dyskeratosis congenita, anticipation, and telomere shortening.

87 t the mutations associated with dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fib

88 e bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fib

89 ociated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibrosis and cance

90 Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marro

91 DKC1 mutations in the disease dyskeratosis congenita are thought to act via this mechanism, causing

92 een described for patients with dyskeratosis congenita, bone marrow failure and idiopathic pulmonary

93 t can cause autosomal recessive dyskeratosis congenita but have not found any GAR1 mutations.

94 ic pulmonary fibrosis (IPF) and dyskeratosis congenita, but how PARN deficiency impairs telomere main

95 Recent work demonstrates that dyskeratosis congenita can also arise from mutations in specific shel

96 s, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and Treacher Colli

97 m six individuals with X-linked dyskeratosis congenita caused by an unknown disease-causing variant i

98 In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (also known as WR

99 henotypes to the human syndrome Dyskeratosis congenita, caused by mutations in a Nop60B homolog, is d

100 ening is virtually universal in dyskeratosis congenita, caused by mutations in genes encoding compone

101 deficiency in the rare disease dyskeratosis congenita) causes tissue pathology, but underlying mecha

102 Dyskeratosis congenita cells age prematurely and have very short telo

103 As in Fanconi anemia and dyskeratosis congenita, DBA is both an inherited bone marrow failure

104 Dyskeratosis congenita (DC) and its phenotypically severe variant, Ho

105 Dyskeratosis congenita (DC) and related diseases are a heterogeneous

106 o TIN2, which is compromised in dyskeratosis congenita (DC) and related disorders.

107 Dyskeratosis congenita (DC) and related syndromes are inherited, life

108 he bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase

109 son syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, int

110 X-linked dyskeratosis congenita (DC) is a bone marrow failure syndrome caused

111 Dyskeratosis congenita (DC) is a genetic disorder of defective tissue

112 Dyskeratosis congenita (DC) is a multisystem bone marrow failure synd

113 Dyskeratosis congenita (DC) is a multisystem bone marrow failure synd

114 Dyskeratosis congenita (DC) is a progressive and heterogeneous congen

115 X-linked dyskeratosis congenita (DC) is a rare bone marrow failure syndrome ca

116 Dyskeratosis congenita (DC) is a rare inherited bone marrow failure s

117 Dyskeratosis congenita (DC) is a rare inherited form of bone marrow f

118 Dyskeratosis congenita (DC) is an inherited BM failure disorder that

119 Dyskeratosis congenita (DC) is an inherited bone marrow (BM) failure

120 Dyskeratosis congenita (DC) is an inherited bone marrow failure disor

121 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndr

122 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndr

123 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndr

124 Dyskeratosis congenita (DC) is an inherited disorder with mutations a

125 Dyskeratosis congenita (DC) is an inherited multisystem disorder, cha

126 Dyskeratosis congenita (DC) is an inherited poikiloderma which in add

127 Dyskeratosis congenita (DC) is characterized by multiple features inc

128 ve bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations in telomeras

129 een identified in patients with dyskeratosis congenita (DC) or aplastic anemia (AA).

130 Dyskeratosis congenita (DC) patients suffer a progressive and ultimat

131 Patients with dyskeratosis congenita (DC) suffer from stem cell failure in highly p

132 Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by premature agi

133 Patients with dyskeratosis congenita (DC), a disorder of telomere maintenance, suff

134 Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow fa

135 A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder associated with

136 maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by

137 in telomere biology genes cause dyskeratosis congenita (DC), an inherited bone marrow failure and can

138 ions in TIN2 that gives rise to dyskeratosis congenita (DC), an inherited bone marrow failure syndrom

139 hose found in the human disease dyskeratosis congenita (DC), an inherited syndrome characterized by b

140 d bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond

141 skerin that are associated with dyskeratosis congenita (DC), on the basis of clinical genetics studie

142 utations cause a severe form of dyskeratosis congenita (DC), wherein PARN deficiency leads to human t

143 cell failure diseases, such as dyskeratosis congenita (DC).

144 nd bone marrow failure syndrome dyskeratosis congenita (DC).

145 6), one of the genes mutated in pachyonychia congenita, develop pachyonychia congenita-like PPK.

146 plications: it may be useful in dyskeratosis congenita diagnosis, in suggesting mutations in patients

147 t syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamon

148 the two other genes mutated in pachyonychia congenita diseases, K6 and K16, with that of K17 in huma

149 amilies with autosomal dominant dyskeratosis congenita display anticipation and have mutations in the

150 ell lung carcinoma; arthrogryposis multiplex congenita, distal type 2B; and bladder cancer.

151 ith the rare inherited disorder dyskeratosis congenita (DKC) have reduced levels of telomerase and sh

152 inked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in the gene encod

153 Autosomal dominant dyskeratosis congenita (DKC), as well as aplastic anemia, has been li

154 the autosomal dominant form of dyskeratosis congenita (DKC).

155 RC) occur in autosomal dominant dyskeratosis congenita (DKC).

156 plate, cause autosomal dominant dyskeratosis congenita due to telomere shortening.

157 mutation identified in a recessive myotonia congenita family.

158 ns of the multisystem syndrome, dyskeratosis congenita, forms of which display defects in telomerase

159 RTEL1, an established locus for dyskeratosis congenita, harbored significantly more new damaging and

160 Patients with myotonia congenita have muscle hyperexcitability due to loss-of-f

161 Patients with myotonia congenita have muscle hyperexcitability due to loss-of-f

162 Studies of dyskeratosis congenita have shed light on the pathobiology of aplasti

163 ure of variable severity due to dyskeratosis congenita, historically characterised by associated phys

164 fied in patients with classical dyskeratosis congenita impact either directly or indirectly on the st

165 Short telomeres, a hallmark of dyskeratosis congenita, impair tissue stem cell function in mouse mod

166 we map the gene responsible for dyskeratosis congenita in a large pedigree with autosomal dominant in

167 y be the first manifestation of dyskeratosis congenita in children, and hTERC mutations have been det

168 any of the classic features of dyskeratosis congenita in five of the six families.

169 d well explain the onset of the paramyotonia congenita in this family and emphasize the role of segme

170 rectly support the concept that pachyonychia congenita is a disease of the nail bed.

171 Dyskeratosis congenita is a premature aging syndrome characterized by

172 Dyskeratosis congenita is a progressive bone-marrow failure syndrome

173 Dyskeratosis congenita is a rare inherited disorder characterized by

174 Paramyotonia congenita is a temperature-sensitive skeletal muscle dis

175 Dyskeratosis congenita is an inherited BM failure syndrome disorder b

176 Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle ca

177 Autosomal-dominant dyskeratosis congenita is associated with heterozygous mutations in t

178 Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA compon

179 The hypothesis that dyskeratosis congenita is caused by a defect in IRES-mediated transla

180 Pachyonychia congenita is caused by mutations in keratin genes and ty

181 Dyskeratosis congenita is characterized by a mucocutaneous triad, bon

182 Dyskeratosis congenita is characterized by defective maintenance of b

183 Arthrogryposis multiplex congenita is defined by the presence of contractures acr

184 lomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyske

185 pachyonychia congenita, develop pachyonychia congenita-like PPK.

186 Genetic testing for occult dyskeratosis congenita may be warranted in selected patients with apl

187 Myotonia congenita (MC) is the commonest genetic skeletal muscle

188 potential and insertion of the dyskeratosis congenita mutation C408G led to a significant reduction

189 We have also identified a dyskeratosis congenita mutation cluster site within a modeled dyskeri

190 ults show that the hairpin with dyskeratosis congenita mutations is more stable and less flexible tha

191 he bone marrow failure syndrome dyskeratosis congenita, mutations in genes encoding telomerase subuni

192 sorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal li

193 Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive con

194 hTERC mutations associated with dyskeratosis congenita or aplastic anemia either impair the specific

195 nts discovered in patients with dyskeratosis congenita or aplastic anemia show loss of function witho

196 Blood counts of patients with dyskeratosis congenita or aplastic anemia with mutations in telomeras

197 s in this gene can cause either pachyonychia congenita or steatocystoma multiplex, the features of th

198 ifferentiated state, iPSCs from dyskeratosis congenita patients harbour the precise biochemical defec

199 Many dyskeratosis congenita patients remain uncharacterized.

200 These findings in iPSCs from dyskeratosis congenita patients reveal that undifferentiated iPSCs ac

201 erved but reduced in cells from dyskeratosis congenita patients, where the PUS DKC1 is mutated.

202 that resembled those present in dyskeratosis congenita patients.

203 that resembled defects seen in dyskeratosis congenita patients.

204 elocity recovery cycles to evaluate myotonia congenita patients.

205 occurs in tissue stem cells in dyskeratosis congenita patients.

206 uch as in KRT6A and KRT6B cause pachyonychia congenita (PC) -1 and -2, respectively.

207 that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associ

208 ar keratoderma is a hallmark of pachyonychia congenita (PC) and focal non-epidermolytic palmoplantar

209 Pachyonychia congenita (PC) is a group of autosomal dominant disorder

210 Paramyotonia congenita (PC) is a human hereditary disease caused by o

211 Paramyotonia congenita (PC) is a human hereditary disorder wherein mi

212 Pachyonychia congenita (PC) is a keratinizing disorder predominantly

213 Pachyonychia congenita (PC) is a rare autosomal dominant skin disorde

214 Pachyonychia congenita (PC) is a rare, autosomal dominant keratin dis

215 Pachyonychia congenita (PC) is an autosomal dominant genodermatosis c

216 Pachyonychia congenita (PC) is an autosomal-dominant keratin disorder

217 rfering RNA (siRNA; TD101) into pachyonychia congenita (PC) patient foot lesions resulted in improvem

218 rgets the causative mutation in pachyonychia congenita (PC) patients.

219 ing phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one family has

220 A notable exception is pachyonychia congenita (PC), a disorder in which the nail and other e

221 keratin 6 (Krt6a, Krt6b) cause pachyonychia congenita (PC), a disorder typified by dystrophic nails,

222 coding sequence of KRT16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder chara

223 ented to ectodermal dysplasias, pachyonychia congenita (PC), and steatocystoma multiplex (SM).

224 , KRT6B, KRT16, or KRT17, cause pachyonychia congenita (PC), characterized by hypertrophic nail dystr

225 he rare monogenic skin disorder pachyonychia congenita (PC), we demonstrate that small interfering RN

226 ial for the rare skin disorder, pachyonychia congenita (PC).

227 d often suggests a diagnosis of pachyonychia congenita (PC).

228 c mutation in a family with the paramyotonia congenita phenotype.

229 uronal sodium channel Nav1.7, a paramyotonia congenita (PMC) mutation in the human skeletal muscle so

230 also found to be effective for paramyotonia congenita, potassium-aggravated myotonia, long QT-3 synd

231 type 2 (Jackson-Lawler) form of pachyonychia congenita, previously shown to arise from inherited K17

232 T), cause the genetic disorders dyskeratosis congenita, pulmonary fibrosis, and other degenerative di

233 Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, and live

234 rized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal choles

235 irmed PC from the International Pachyonychia Congenita Research Registry who completed a survey on th

236 ific for paramyotonia congenita and myotonia congenita, respectively.

237 , Warsaw breakage syndrome, and dyskeratosis congenita, respectively.

238 ally related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson synd

239 of dyskerin (DKC1) in X-linked dyskeratosis congenita severely impairs telomerase activity by blocki

240 Given that all forms of pachyonychia congenita show an involvement of the nail, we compared t

241 chondrogenesis, spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest dysp

242 in vivo studies in a mouse model of myotonia congenita suggested that side effects could limit the ef

243 und in patients with hereditary paramyotonia congenita (T1313M on the III-IV linker and R1448C on the

244 In the genetic disorder dyskeratosis congenita, telomere shortening is accelerated, and patie

245 P syndrome is distinct from the dyskeratoses congenita telomeropathies, with which it shares some cli

246 ermatoses such as psoriasis and pachyonychia congenita, the currently unclear regulation of Krt17 exp

247 atients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited

248 6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutatio

249 Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler ty

250 Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17.

251 Pachyonychia congenita type 2 is an inherited ectodermal dysplasia ch

252 r absence does not preclude the pachyonychia congenita type 2 phenotype.

253 ) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclu

254 7A) in patients presenting with pachyonychia congenita type 2.

255 as K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cys

256 uberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more d

257 Thirteen patients with pachyonychia congenita types 1 and 2 were studied, two of which had a

258 useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help limit unnecessa

259 and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous featu

260 aintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three indi

261 habdomyosarcoma and arthrogryposis multiplex congenita which can be caused by fetal-specific AChR-blo

262 etter outcomes in patients with dyskeratosis congenita who require hematopoietic stem cell transplant

263 ells (iPSCs) from patients with dyskeratosis congenita with PARN mutations, we show that PARN is requ

264 e, DKC1, is mutated in X-linked dyskeratosis congenita (X-DC) and Hoyeraal-Hreidarsson (HH) syndrome.

265 One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, encoding for an

266 mutated in people with X-linked dyskeratosis congenita (X-DC), a disease characterized by bone marrow

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

268 (16q24.3), FA-D (3p22-26), and dyskeratosis congenita (Xq28) genes suggests this goal is achievable.