ライフサイエンスコーパス: telangiectasia

1 age-related macular degeneration and macular telangiectasia.

2 se states, including malignancies and ataxia telangiectasia.

3 genetic instability in patients with ataxia-telangiectasia.

4 2 and other retinal diseases associated with telangiectasia.

5 leiotropic neurodegeneration disorder ataxia-telangiectasia.

6 tion in patients with hereditary hemorrhagic telangiectasia.

7 eral arteriovenous malformations and mucosal telangiectasia.

8 , we found a high rate of temporal and nasal telangiectasias.

9 e most common sequelae after involution were telangiectasias (145, 84.3%), fibrofatty tissue (81, 47.

10 alient features, which compose its name: (1) telangiectasias; (2) elevated erythropoietin and erythro

11 People with ataxia-telangiectasia (A-T) display phenotypic variability with

12 Ataxia-telangiectasia (A-T) is a rare multi-system disorder cau

13 Ataxia telangiectasia (A-T) is a syndrome associated with loss

14 Ataxia-telangiectasia (A-T) is an autosomal recessive disease c

15 lly, the immune deficiencies found in ataxia-telangiectasia (A-T) patients are viewed as defects of t

16 Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with severe lymphocytopeni

17 M gene result in a condition known as ataxia-telangiectasia (A-T) that is characterized by cancer pre

18 Ataxia telangiectasia (A-T), a rare autosomal recessive disorde

19 ase mutated in the rare human disease ataxia telangiectasia (A-T), has been the focus of intense scru

20 Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) a

21 n vivo Smad4 model of hereditary hemorrhagic telangiectasia alleviated these vascular phenotypes, fur

22 The treatment of retinal telangiectasia and areas of retinal nonperfusion identif

23 ns, is substantially reduced in human ataxia-telangiectasia and Atm(-/-) mouse cerebellar Purkinje ce

24 ed cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype correlatio

25 ATR (ataxia telangiectasia and Rad-3-related) is a protein kinase th

26 s for the cell cycle checkpoint genes ATAXIA TELANGIECTASIA AND RAD3 RELATED (ATR) and ALUMINUM TOLER

27 positive correlation between ERH and ataxia telangiectasia and Rad3 related (ATR) expression in live

28 inhibitors of the DNA damage kinases ataxia-telangiectasia and Rad3 related (ATR), CHK1, WEE1, and a

29 ers homology-directed repair and ATR (ataxia telangiectasia and Rad3 related)-dependent checkpoint ac

30 important for activation of the ATR (ataxia telangiectasia and Rad3 related)-regulated DNA damage si

31 he ataxia telangiectasia mutated- and ataxia telangiectasia and rad3 related-based DNA damage checkpo

32 motes PKA-mediated phosphorylation of ataxia telangiectasia and rad3-related (ATR) at Ser435 (ATR-pS4

33 Ataxia telangiectasia and Rad3-related (ATR) mediates response

34 ataxia telangiectasia mutated (ATM), ataxia telangiectasia and Rad3-related (ATR), and the DNA-depen

35 ors of ataxia telangiectasia mutated, ataxia telangiectasia and Rad3-related (ATR), DNA-dependent pro

36 nlike other alkylators, activated the ataxia telangiectasia and Rad3-related (ATR)-checkpoint kinase

37 to aberrant R loop accumulation, the ataxia telangiectasia and Rad3-related (ATR)-Chk1 pathway is ac

38 le-stranded telomeric DNA and prevent ataxia telangiectasia and Rad3-related kinase activation.

39 omains, which inhibits recruitment of Ataxia telangiectasia and Rad3-related protein (ATR) and reduce

40 PKA directly phosphorylates ataxia telangiectasia and Rad3-related protein (ATR) at Ser435,

41 the replication stress sensing kinase ataxia telangiectasia and Rad3-related protein (ATR) reduces th

42 axia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR), and in me

43 e stress leading to activation of the ataxia telangiectasia and Rad3-related protein (ATR)-mediated D

44 Further analysis of ataxia telangiectasia and Rad3-related protein (ATR)/Chk1 signa

45 oter region of DNA repair kinase ATR (ataxia-telangiectasia and Rad3-related protein) and acts as a t

46 ing of ataxia telangiectasia mutated, ataxia telangiectasia and Rad3-related protein, and DNA-depende

47 Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (

48 se to perturbed DNA replication, ATR (ataxia telangiectasia and Rad3-related) kinase is activated to

49 activity is tightly regulated by ATR (ataxia telangiectasia and Rad3-related), which phosphorylates P

50 Both compounds also lead to ataxia telangiectasia and Rad3-related- (ATR-) dependent produc

51 Targeting ataxia-telangiectasia and Rad3-related/cell-cycle checkpoint ki

52 l in a patient with Hypotrichosis-Lymphedema-Telangiectasia and Renal (HLTRS) syndrome, caused by a m

53 r photocoagulation was used to treat leaking telangiectasias and to limit further ERD expansion.

54 ther neurodegenerative disorders (eg, ataxia-telangiectasia), and DNA double-strand breaks are crucia

55 on, and eyelid skin atrophy with presence of telangiectasias), and (3) periorbital (e.g., superior su

56 tary nonpolyposis colorectal cancer), ataxia telangiectasia, and Li-Fraumeni syndrome, all of which h

57 ay be a required event in the development of telangiectasia, and that rather than haploinsufficiency,

58 axia telangiectasia mutated (ATM) and ataxia telangiectasia- and Rad3-related (ATR) DNA damage repair

59 the type of sequelae classified as residual telangiectasia, anetodermal skin, redundant skin, persis

60 Facial erythema and telangiectasia are commonly associated with the erythema

61 interaction with the development of retinal telangiectasia are identified.

62 ctors responsible for hereditary hemorrhagic telangiectasia-associated AVM formation are currently un

63 own etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency.

64 Ataxia-telangiectasia (AT) is a pleiotropic multisystem disorde

65 Ataxia telangiectasia (AT) is a progressive multisystem disorde

66 Biallelic mutations in ATM cause ataxia-telangiectasia (AT), a rare inherited disease with a hig

67 cause the neurodegenerative disorder ataxia-telangiectasia (AT).

68 Patients were classified as variant ataxia-telangiectasia based on retained ATM kinase activity.

69 ted vascular disorder hereditary hemorrhagic telangiectasia characterized by local telangiectases and

70 Telangiectasia, dyspigmentation, scar appearance, edema,

71 -assessed breast NTE (shrinkage, induration, telangiectasia, edema) were 2.12 (95% CI, 1.55 to 2.89;

72 The ataxia telangiectasia group D complementing gene (ATDC, also ca

73 scribe a novel mouse model expressing ataxia telangiectasia group D complementing gene (ATDC, also kn

74 Ataxia-telangiectasia group D complementing gene (ATDC, also kn

75 Ataxia-telangiectasia group D-associated gene (ATDC) mediated r

76 Here we show that deletion of the ataxia-telangiectasia group D-complementing (Atdc) gene, whose

77 ebellar metabolism, participants with ataxia-telangiectasia had widespread changes in metabolic rates

78 F-beta/BMP signaling: hereditary hemorrhagic telangiectasia (HHT) and cerebral cavernous malformation

79 alformations (AVM) in hereditary hemorrhagic telangiectasia (HHT) can necessitate liver transplantati

80 Hereditary hemorrhagic telangiectasia (HHT) is a highly debilitating and life-t

81 Hereditary hemorrhagic telangiectasia (HHT) is a Mendelian disease characterize

82 Hereditary hemorrhagic telangiectasia (HHT) is a potentially life-threatening g

83 Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular d

84 whether patients with hereditary hemorrhagic telangiectasia (HHT) who smoke tobacco are more prone to

85 curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe hepatic involvement.

86 Hereditary hemorrhagic telangiectasia (HHT), a genetic bleeding disorder leadin

87 ALK1; ACVRL1), causes hereditary hemorrhagic telangiectasia (HHT).

88 ling manifestation of hereditary hemorrhagic telangiectasia (HHT).

89 life in patients with hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu dis

90 ical manifestations including oculocutaneous telangiectasia, immune disorders, increased susceptibly

91 tic mutations seed the formation HHT-related telangiectasia in a genetic two-hit mechanism.

92 ary density was significantly reduced around telangiectasias in both SCP (P = .021) and DCP (P = .042

93 that showed increased sensitivity to ataxia telangiectasia inhibition, and a neuroendocrine-associat

94 ent due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compen

95 Hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disorde

96 Variant ataxia-telangiectasia is caused by mutations that allow some re

97 A long-standing mystery surrounding ataxia-telangiectasia is why it is mainly cerebellar neurons, P

98 a more lateral distribution of erythema and telangiectasia, less neurogenic mast cell activation, an

99 Ataxia-telangiectasia-like disorder (ATLD) fibroblasts with nuc

100 editary cancer-susceptibility disease ataxia-telangiectasia-like disorder (ATLD).

101 r death, Muller and microglia activation and telangiectasia-like vascular remodelling-features that w

102 T/Myb-like domain of nuclear protein, ataxia-telangiectasia locus (NPAT), a transcriptional co-activa

103 or the diagnostic criteria of CM, removal of telangiectasia macularis eruptiva perstans from the curr

104 Temporal and nasal telangiectasias may have clinical significance in a pati

105 ects, particularly TP53 and biallelic ataxia telangiectasia mutated (ATM) aberrations, are associated

106 demonstrates that loss of ataxia telangiectasia mutated (ATM) activates microglia through

107 Nuclear PKR antagonizes ataxia-telangiectasia mutated (ATM) activation by a mechanism d

108 phosphorylated at S455 downstream of ataxia telangiectasia mutated (ATM) and AKT following DNA damag

109 the PIP3-kinase-like kinases (PI3KKs) ataxia telangiectasia mutated (ATM) and ataxia telangiectasia a

110 er hypoxia through phosphorylation by ataxia telangiectasia mutated (ATM) and ataxia telangiectasia m

111 iruses (HPVs) constitutively activate ataxia telangiectasia mutated (ATM) and ataxia telangiectasia-

112 age response pathways mediated by the ataxia-telangiectasia mutated (ATM) and ataxia-telangiectasia m

113 by the DNA damage checkpoint kinases ATAXIA TELANGIECTASIA MUTATED (ATM) and ATM AND RAD3-RELATED (A

114 Two related kinases, ataxia telangiectasia mutated (ATM) and ATM and Rad3-related ki

115 cules that regulate autophagy through ataxia-telangiectasia mutated (ATM) and cell cycle checkpoint k

116 tions of the key DNA repair molecules ataxia-telangiectasia mutated (ATM) and checkpoint kinase 2 (CH

117 tive DDR-associated proteins, such as ataxia telangiectasia mutated (ATM) and H2AX, was induced as ea

118 coordinate recognition of DNA damage, ataxia-telangiectasia mutated (ATM) and PARP-1, were induced.

119 ing this technology, we identify that ataxia-telangiectasia mutated (ATM) and RNF8 regulate rapid chr

120 gatively regulating the expression of ataxia telangiectasia mutated (ATM) and the subsequent DNA dama

121 TP53 and ataxia telangiectasia mutated (ATM) defects are associated with

122 ial cell as well as activation of the ataxia telangiectasia mutated (ATM) DNA repair pathway that in

123 The ataxia-telangiectasia mutated (ATM) gene regulates DNA damage r

124 Inactivation of Ataxia-telangiectasia mutated (ATM) gene results in an increase

125 Mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a kinas

126 , is caused by a defective or missing ataxia telangiectasia mutated (ATM) gene.

127 Involvement of tumor suppressor ataxia telangiectasia mutated (ATM) in the TGF-beta1 pathway re

128 ologic blockade or siRNA silencing of ataxia telangiectasia mutated (ATM) increases type I IFN releas

129 Ataxia telangiectasia mutated (ATM) is a protein kinase and a m

130 Ataxia telangiectasia mutated (ATM) is an important signaling m

131 Phosphorylation of ataxia-telangiectasia mutated (ATM) is the initial step in the

132 kinases (PI3KKs) involved in the DDR: ataxia telangiectasia mutated (ATM) kinase and ATM and Rad3-rel

133 Here we identify ataxia-telangiectasia mutated (ATM) kinase as a modulator of th

134 Inhibitors of ataxia telangiectasia mutated (ATM) kinase decreased manganese-

135 The ataxia telangiectasia mutated (ATM) kinase is involved in the r

136 e DNA damage response mediated by the Ataxia Telangiectasia Mutated (ATM) kinase may affect the relat

137 Strikingly, we found that the ataxia telangiectasia mutated (ATM) kinase regulates the intera

138 one Igkappa allele signal through the ataxia telangiectasia mutated (ATM) kinase to feedback-inhibit

139 , we reported that the absence of the ataxia telangiectasia mutated (ATM) kinase, a critical DNA dama

140 The ataxia-telangiectasia mutated (ATM) kinase, an upstream kinase

141 sly reported a novel inhibitor of the ataxia-telangiectasia mutated (ATM) kinase, which is a target f

142 imized as selective inhibitors of the ataxia telangiectasia mutated (ATM) kinase.

143 sible for the efficient activation of ataxia-telangiectasia mutated (ATM) kinase.

144 that DNA damage signaling through the ataxia telangiectasia mutated (ATM) pathway induces the translo

145 -C experiments on wild type cells and ataxia telangiectasia mutated (ATM) patient cells.

146 Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1 and re

147 Ataxia-telangiectasia mutated (ATM) plays a unique yet incomple

148 The Ser/Thr protein kinase ataxia telangiectasia mutated (ATM) plays an important role in

149 The ataxia-telangiectasia mutated (ATM) protein is an apical kinase

150 The ataxia-telangiectasia mutated (ATM) protein kinase is a master

151 The ataxia-telangiectasia mutated (ATM) protein kinase is widely kn

152 Ataxia-telangiectasia mutated (ATM) protein kinase regulates th

153 reated cells, largely mediated by the ATAXIA TELANGIECTASIA MUTATED (ATM) protein kinase, representin

154 ection of multiple cell lines lacking ataxia telangiectasia mutated (ATM) protein produced wild-type

155 highly specific nuclear expression of Ataxia Telangiectasia Mutated (ATM) protein within melanocytes

156 In silico analysis suggested that ataxia-telangiectasia mutated (ATM) protein, a protein kinase,

157 Ataxia-telangiectasia mutated (ATM) regulates the DNA damage re

158 becomes phosphorylated at Ser(384) by ataxia telangiectasia mutated (ATM) serine/threonine kinase, an

159 dependent protein kinase (DNA-PK) and Ataxia telangiectasia mutated (ATM) signaling.

160 Activation of ataxia-telangiectasia mutated (ATM), a kinase activated by DNA

161 EMIS, DNA-PKcs, DNA ligase IV (LIG4), Ataxia telangiectasia mutated (ATM), and ATM- and Rad3-related

162 sensitive, had reduced expression of ataxia-telangiectasia mutated (ATM), and exhibited multiple mit

163 nase-related kinase family, including ataxia telangiectasia mutated (ATM), ataxia telangiectasia and

164 IDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutatio

165 ment is independent of the DDR sensor ataxia telangiectasia mutated (ATM), but dependent on poly (ADP

166 d by the DNA damage response protein, ataxia telangiectasia mutated (ATM), in cytokine-induced NF-kap

167 TIP damage sites, DDR factors such as ataxia telangiectasia mutated (ATM), MDC1, WRN, and FANCD2 are

168 e DNA damage response factors phospho-ataxia-telangiectasia mutated (ATM), phospho-53BP1, gammaH2AX a

169 -regulation and/or phosphorylation of ataxia telangiectasia mutated (ATM), phosphorylated H2AX (gamma

170 lation of the major DNA damage kinase Ataxia telangiectasia mutated (ATM), thereby triggering cellula

171 red DSB-induced checkpoint integrity, Ataxia Telangiectasia Mutated (ATM)-deficient mice harboring th

172 These 3 responses are ataxia telangiectasia mutated (ATM)-dependent and promote quies

173 l-mesenchymal transitions (EMT) in an Ataxia-telangiectasia mutated (ATM)-dependent manner.

174 The ataxia telangiectasia mutated (ATM)-interacting protein ATMIN m

175 These telomere defects activated ataxia-telangiectasia mutated (ATM)-mediated DNA damage repair

176 strand breaks (DSBs), as indicated by ataxia telangiectasia mutated (ATM)-mediated H2AX phosphorylati

177 lymphocytic leukemia (CLL) where the ataxia telangiectasia mutated (ATM)-p53 pathway is inactivated

178 d Rad3 related (ATR), CHK1, WEE1, and ataxia-telangiectasia mutated (ATM); and inhibitors of classica

179 BS1 expression and epirubicin-induced ataxia-telangiectasia mutated (ATM)phosphorylation in breast ca

180 amage response marker, phosphorylated ataxia telangiectasia mutated (pATM), were quantified in circul

181 ATR (ataxia-telangiectasia mutated [ATM] and RAD3-related) is a mast

182 Ataxia telangiectasia mutated and RAD3 related (ATR) protein ki

183 ngle strand DNA, the key platform for ataxia telangiectasia mutated and Rad3-related (ATR) activation

184 nt in PKA-mediated phosphorylation of ataxia telangiectasia mutated and Rad3-related (ATR) at S435, a

185 axia telangiectasia mutated (ATM) and ataxia telangiectasia mutated and RAD3-related (ATR) at Ser101

186 RC31 interacts with Ku70/Ku80 and the ataxia telangiectasia mutated and RAD3-related (ATR) at the pro

187 The ataxia telangiectasia mutated and Rad3-related (ATR) kinase is

188 eta and ISG induction is dependent on ataxia-telangiectasia mutated and Rad3-related (ATR) kinase, bu

189 axia-telangiectasia mutated (ATM) and ataxia-telangiectasia mutated and Rad3-related (ATR) kinases ar

190 We found that silencing of ataxia-telangiectasia mutated and RAD3-related (ATR), a serine/

191 V also produced maximal activation of ataxia telangiectasia mutated and Rad3-related (Atr)-mediated D

192 e is mediated by additive activity of ATAXIA TELANGIECTASIA MUTATED AND RAD3-RELATED and ATAXIA TELAN

193 chromosomal anomalies (trisomy-12 or ataxia telangiectasia mutated anomaly + del13q14) and negativel

194 hich led to the downregulation of the ataxia-telangiectasia mutated DNA damage pathway and the chemok

195 the number of nuclear phosphorylated ataxia telangiectasia mutated foci in the post-LVAD hearts.

196 enti-Cre deleted one or two copies of ataxia-telangiectasia mutated gene (Atm; KPA(FL/+) or KPA(FL/FL

197 Here we report that ataxia-telangiectasia mutated kinase (ATM) plays a major role i

198 lar epithelial cells, as indicated by ataxia telangiectasia mutated kinase (ATM)-dependent phosphoryl

199 Upon IR, CHK2 is activated by ataxia telangiectasia mutated kinase and regulates the S-phase

200 cle checkpoints via activation of the ataxia-telangiectasia mutated kinase.

201 IECTASIA MUTATED AND RAD3-RELATED and ATAXIA TELANGIECTASIA MUTATED kinases, which cause postreplicat

202 mediated in part by activation of the ataxia-telangiectasia mutated pathway, which is preliminarily a

203 tric cancer, especially in those with ataxia-telangiectasia mutated protein (ATM)-negative tumours.

204 The absence of Ataxia-Telangiectasia mutated protein kinase (ATM) is associate

205 yocyte nuclear foci of phosphorylated ataxia telangiectasia mutated protein, an upstream regulator of

206 e yeast Ataxia telangiectasia mutated/Ataxia telangiectasia mutated Rad3-related checkpoint regulator

207 nd break repair is the recruitment of ataxia-telangiectasia mutated serine/threonine kinase (ATM) to

208 Loss of ATM (ataxia-telangiectasia mutated) activity leads to a slowing of D

209 on of proteins (H2AX, protein 53, and ataxia telangiectasia mutated) after SPECT.

210 ATM (ataxia-telangiectasia mutated) and ATR (ATM and Rad3-related) a

211 uced selectively by DSBs through ATM (ataxia telangiectasia mutated) as a unique mechanism to attenua

212 Ai)-based screen that identified ATM (ataxia telangiectasia mutated) as being synthetic lethal with F

213 ere it interacted with activated ATM (ataxia-telangiectasia mutated) at sites of DNA repair.

214 ATM (ataxia-telangiectasia mutated) is a PI3K-like kinase best known

215 s provided by the protein kinase ATM (ataxia telangiectasia mutated) that is capable of commanding a

216 trol (poly(ADP)-ribose polymerase and ataxia telangiectasia mutated), those within the cell metabolis

217 her systems is known to activate ATM (ataxia telangiectasia mutated)-mediated DNA damage response (DD

218 However, silencing of ataxia telangiectasia mutated, ataxia telangiectasia and Rad3-r

219 ining the MSLN-TTC with inhibitors of ataxia telangiectasia mutated, ataxia telangiectasia and Rad3-r

220 NA double-strand breaks by activating Ataxia Telangiectasia Mutated, phosphorylating histone H2AX, an

221 the master DNA damage response kinase Ataxia telangiectasia mutated, revealing potential mechanistic

222 rsely, KU-55933, a drug that inhibits ataxia telangiectasia mutated, thereby preventing p53 phosphory

223 genes requires ATR and ALT2, but not ATAXIA TELANGIECTASIA MUTATED, thus demonstrating that in respo

224 Both 1 and 3 induce ataxia telangiectasia mutated- (ATM-) and DNA-dependent protein

225 n to the G(2) arrest triggered by the ataxia telangiectasia mutated- and ataxia telangiectasia and ra

226 chanistic links between PALB2 and the Ataxia telangiectasia mutated-dependent DNA damage responses.

227 damage, and this dissociation may be ataxia telangiectasia mutated-dependent.

228 ination and degradation controlled by ataxia telangiectasia mutated-induced phosphorylation at Ser(38

229 cules (ataxia-telangiectasia mutated; ataxia-telangiectasia mutated-related and Rad3-related; CHK1/2;

230 ent kinase (CDK), and Mec1, the yeast Ataxia telangiectasia mutated/Ataxia telangiectasia mutated Rad

231 s (MLH1), damage signaling molecules (ataxia-telangiectasia mutated; ataxia-telangiectasia mutated-re

232 ndent kinase, encoded by PRKDC), ATM (ataxia telangiectasia, mutated), and ATR (ATM and Rad3-related)

233 e DNA damage-activated protein kinase ataxia-telangiectasia-mutated (ATM) and casein kinase1 (CK1) an

234 the DNA damage response downstream of ataxia telangiectasia-mutated (ATM) and p38/MK2 and promotes ce

235 e response Ser/Thr kinases, including ataxia telangiectasia-mutated (ATM) and Rad3-related (ATR), con

236 eplication stress in malignant cells (ataxia telangiectasia-mutated (ATM) and Rad3-related-checkpoint

237 results in reduced activation of the ataxia telangiectasia-mutated (ATM) checkpoint kinase, ineffici

238 We have recently shown that ataxia-telangiectasia-mutated (ATM) deficiency in CD4 T cells a

239 is process in cells deficient for the ataxia telangiectasia-mutated (ATM) DSB response factor.

240 dence indicates that the reduction of ataxia telangiectasia-mutated (ATM) kinase activity can amelior

241 by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity.

242 ant activation of DNA damage-response ataxia telangiectasia-mutated (ATM) signaling in HD transgenic

243 colony formation required NF-kappaB, ataxia telangiectasia-mutated (ATM), and the inhibitor of kappa

244 protein kinase, the ortholog of human ataxia telangiectasia-mutated (ATM), is activated in response t

245 reased levels of p53, but not Hdm2 or ataxia telangiectasia-mutated (ATM), were seen after expression

246 he DNA damage response protein kinase ataxia telangiectasia-mutated (ATM)- and Rad-3-related (ATR) in

247 int activation involves activation of ataxia telangiectasia-mutated (ATM)/ATM- and rad3-related (ATR)

248 replication damage checkpoint kinase ataxia telangiectasia-mutated and rad3-related homolog.

249 ases p53 stability as demonstrated by ataxia telangiectasia-mutated kinase activation, increased Ser-

250 oinositide 3-kinase-like kinases ATM (ataxia telangiectasia-mutated) and ATR (ATM and Rad3-related) a

251 ding the DNA-damage signaling kinase, ataxia-telangiectasia-mutated) increase Familial Pancreatic Can

252 mplications included cataract (n = 13), iris telangiectasia (n = 5), corneal epithelial defect (n = 4

253 may therefore be a driving force in macular telangiectasia, neovascular AMD and other retinal diseas

254 hort stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity,

255 l degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retina

256 fective primary immunodeficiencies or ataxia telangiectasia/Nijmegen breakage syndromes.

257 Examination revealed telangiectasias on the labial mucosa and nail folds.

258 nical correlate for the formation of retinal telangiectasia or Coats-like vasculopathy in patients wi

259 cipants with ETR tended to have erythema and telangiectasia primarily on the central face (79%), wher

260 ere calculated inside 100-mum circles around telangiectasias, projected over superficial (SCP) and de

261 Individuals with variant ataxia-telangiectasia require malignancy surveillance and tailo

262 , such as lentigines, hyperpigmentation, and telangiectasias, should be considered.

263 taxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropa

264 or the alleviation of hereditary hemorrhagic telangiectasia symptoms, such as AVMs.

265 fied low-frequency somatic mutations in 9/19 telangiectasia through the use of next-generation sequen

266 r or solar maculopathy (5 eyes); and macular telangiectasia type 2 (2 eyes).

267 the ALK1 gene cause hereditary haemorrhagic telangiectasia type 2 (HHT2), a disabling disease charac

268 Macular telangiectasia type 2 (MacTel 2) is a rare disease in wh

269 Muller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal dis

270 s an important OCT characteristic of Macular telangiectasia type 2 (MacTel 2).

271 Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral

272 Macular Telangiectasia Type 2 (MacTel) is an uncommon, late-onse

273 Macular telangiectasia type 2 (MacTel), a late-onset macular deg

274 chloroquine retinopathy (n = 1), and macular telangiectasia type 2 (n = 4).

275 A link between macular telangiectasia type 2 and altered serine metabolism has

276 sequence analysis of a patient with macular telangiectasia type 2 and his family members, we identif

277 two relatively rare clinical units, macular telangiectasia type 2 and solitary astrocytic hamartoma

278 To present a coincidence of macular telangiectasia type 2 and solitary retinal astrocytic ha

279 xysphingolipids, in patients who had macular telangiectasia type 2 but did not have HSAN1 or pathogen

280 the case of a 69-year-old woman with macular telangiectasia type 2 in whom multimodal fundus imaging

281 Macular telangiectasia type 2 is a bilateral disease with charac

282 cavitation similar in appearance to macular telangiectasia type 2 on spectral-domain optical coheren

283 84.2% higher among 125 patients with macular telangiectasia type 2 who did not have pathogenic varian

284 e encoding ALK1 cause hereditary hemorrhagic telangiectasia type 2, a rare genetic disease presenting

285 In participants with macular telangiectasia type 2, a surgical implant that released

286 r such condition best seen on OCT is macular telangiectasia type 2, an untreatable disorder for which

287 serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropa

288 omplex inheritance patterns, such as macular telangiectasia type 2, is challenging.

289 safe and well tolerated in eyes with macular telangiectasia type 2.

290 he clinical features of this case of macular telangiectasia type 2.

291 isorders found, 5 eyes (0.5%) showed macular telangiectasia type 2.

292 f 11 patients with HSAN1, 9 also had macular telangiectasia type 2.

293 HSAN1 were identified as causal for macular telangiectasia type 2: of 11 patients with HSAN1, 9 also

294 oveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular d

295 veally in both eyes, leakage from parafoveal telangiectasia was apparent.

296 of capillary changes (dilation, pruning, and telangiectasia) was also substantial (ICC 0.712 for the

297 In MT1 eyes, fewer telangiectasias were identified with OCTA than with FA (

298 These telangiectasias were more apparent in older patients, su

299 ding 403 [90.5%] with hereditary hemorrhagic telangiectasia) were recruited to a prospective series.

300 Typical vascular lesions, including telangiectasia, were demonstrated by liver biopsy in fiv