ライフサイエンスコーパス: DiGeorge

1 DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, M

2 DiGeorge anomaly is characterized by hypoplasia or atres

3 DiGeorge anomaly is characterized by varying defects of

4 DiGeorge Critical Region 8 (DGCR8) is a double-stranded

5 DiGeorge syndrome (DGS) and velocardiofacial syndrome ha

6 DiGeorge syndrome (DGS) is a common genetic disease char

7 DiGeorge syndrome (DGS) is a congenital disease characte

8 DiGeorge syndrome (DGS) is a primary immunodeficiency ch

9 DiGeorge syndrome (DGS) is the most common human chromos

10 DiGeorge syndrome affects more than 3.5 million persons

11 DiGeorge syndrome critical region 2 (DGCR2) is located i

12 DiGeorge syndrome critical region 8 (DGCR8) is a critica

13 DiGeorge syndrome critical region gene 8 (DGCR8) is the

14 DiGeorge syndrome is a common congenital disorder charac

15 DiGeorge syndrome is characterized by cardiovascular, th

16 DiGeorge syndrome, velocardiofacial syndrome and various

17 DiGeorge syndrome, velocardiofacial syndrome, conotrunca

18 DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common

19 is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized

20 peats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplicat

21 h a deletion of chromosomal region 22q11.21 (DiGeorge syndrome), ELANE mutation (Elastase deficiency

22 duals with 22q11 deletion syndrome (22q11DS; DiGeorge/velo-cardio-facial syndrome) have multiple cong

23 ne for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose ph

24 haploinsufficiency disorders, the 22q11.2DS/DiGeorge/Velocardiofacial syndrome, to test the feasibil

25 The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1

26 roduces hairpin RNAs that are processed in a DiGeorge syndrome critical region gene 8 (Dgcr8)/Drosha-

27 immunosuppressive program driven by Tbx1, a DiGeorge syndrome disease gene that encodes a T-box tran

28 apitulate human branchio-oto-renal (BOR) and DiGeorge syndromes.

29 o birth defects such as Treacher-Collins and DiGeorge syndromes.

30 mice with conditional deletion of Dicer and DiGeorge syndrome critical region 8 (Dgcr8) to dissect t

31 der-Willi, Smith-Magenis, Miller-Dieker, and DiGeorge/velocardiofacial or the 22q11 deletion syndrome

32 ities are involved in Velo-cardio-facial and DiGeorge syndromes (VCFS and DGS) (deletions), "cat eye"

33 illi, Angelman, Williams, Smith-Magenis, and DiGeorge/velocardiofacial syndromes in a single hybridiz

34 x1, genes previously linked to Holt-Oram and DiGeorge syndromes, respectively.

35 ssociated with velocardiofacial syndrome and DiGeorge syndrome and lead to multiple congenital abnorm

36 also known as 22q11.2 deletion syndrome and DiGeorge syndrome.

37 Velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spec

38 Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spec

39 Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spec

40 Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders char

41 xample, velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS).

42 Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome are congenital disorders characterized

43 Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndr

44 thymus, and parathyroid glands described as DiGeorge syndrome (DGS).

45 This region, known as DiGeorge syndrome critical region, contains a minimal ar

46 This region, known as DiGeorge syndrome critical region, is a minimal area of

47 ariety of related clinical syndromes such as DiGeorge syndrome (DGS) and velo--cardiofacial syndrome

48 pies human deletion 22q11 syndromes, such as DiGeorge.

49 ently in TBX1 haplo-insufficiency associated DiGeorge (22q11.2 deletion) syndrome.

50 n kinase 70 (ZAP70); a patient with atypical DiGeorge syndrome; and healthy control subjects.

51 mal RNA, in an exoribonuclease-dependent but DiGeorge syndrome critical region 8 (DGCR8)-independent

52 phenotype reported in patients afflicted by DiGeorge syndrome.

53 pharyngeal and cardiac development and cause DiGeorge and related human syndromes.

54 deletion of 22q11.2 (del22q11), which causes DiGeorge syndrome (DGS) and velo-cardio-facial syndrome

55 Complete DiGeorge anomaly refers to the subgroup that is athymic

56 Complete DiGeorge syndrome is a fatal condition in which infants

57 Complete DiGeorge syndrome is a fatal congenital disorder charact

58 with profound immunodeficiency and complete DiGeorge syndrome, the transplantation of thymus tissue

59 tiple syndromic conditions, such as complete DiGeorge syndrome, 22q11.2 deletion syndrome, CHARGE (co

60 rategy for the treatment of athymic complete DiGeorge syndrome (cDGS).

61 of congenital athymia, encompassing complete DiGeorge syndrome and other rare genetic disorders, and

62 In complete DiGeorge syndrome, patients have severely reduced T-cell

63 In summary, diagnosis of complete DiGeorge anomaly is challenging because of the variabili

64 atment for the immune deficiency of complete DiGeorge syndrome has not been determined.

65 SCID or Omenn syndrome (n = 3), or complete DiGeorge syndrome (n = 1).

66 the thymus epithelium caused by the complete DiGeorge syndrome or FOXN1 mutations.

67 e performed in athymic infants with complete DiGeorge anomaly after thymus transplantation to assess

68 erize a large group of infants with complete DiGeorge anomaly and to evaluate the ability of thymus t

69 ants (age, one to four months) with complete DiGeorge syndrome by transplantation of cultured postnat

70 ncy due to athymia in patients with complete DiGeorge syndrome can be corrected by allogeneic thymus

71 n were evaluated in 12 infants with complete DiGeorge syndrome who had less than 20-fold proliferativ

72 promise as therapy for infants with complete DiGeorge syndrome who have significant proliferative res

73 dered as treatment for infants with complete DiGeorge syndrome.

74 mus was performed in a patient with complete DiGeorge syndrome.

75 ritical gene in the pathogenesis of del22q11/DiGeorge syndrome (DGS).

76 22q11-deletion (DiGeorge/velocardiofacial) syndrome (22q11DS) is modeled

77 patient with a heterozygous 22q11.2 deletion/DiGeorge syndrome who developed a unique, broad, and let

78 duplications (175), and 22q11.21 deletions (DiGeorge/velocardiofacial syndrome, 166).

79 The DGCR6 (DiGeorge critical region) gene encodes a putative protei

80 degradation, which attenuated Drosha-DGCR8 (DiGeorge syndrome critical region 8) interaction, and co

81 Microprocessor [Drosha-DGCR8 (DiGeorge syndrome critical region gene 8) complex] proce

82 e-stranded RNA-binding domain protein DGCR8 (DiGeorge syndrome critical region protein 8).

83 Resulting newborn mice display DiGeorge-like congenital cardiovascular defects that inv

84 Velo-cardio-facial/DiGeorge syndrome, also known as 22q11.2 deletion syndro

85 ption factor and gene for velo-cardio-facial/DiGeorge syndrome, results in defects in formation of th

86 during meiosis leading to velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS) characteriz

87 TBX1 is the major candidate gene for DiGeorge syndrome (DGS).

88 TBX1 is a principal candidate gene for DiGeorge syndrome, a developmental anomaly that affects

89 cription factor TBX1, the candidate gene for DiGeorge syndrome, is expressed in mesoderm-derived chon

90 TBX1 is the major gene for DiGeorge syndrome, which is associated with multiple con

91 henotypic severity in TBX1 haploinsufficient DiGeorge syndrome patients.

92 Human DiGeorge Critical Region 8 (DGCR8) is an essential micro

93 h type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head d

94 severity of cranial or cardiac anomalies in DiGeorge/22q1 deletion syndrome (22q11DS).

95 ved cardiovascular defects occur commonly in DiGeorge syndrome and velocardiofacial syndrome (22q11DS

96 contributor to the cardiovascular defects in DiGeorge deletion syndrome (DGS) in humans, a syndrome i

97 molecular basis for craniofacial defects in DiGeorge syndrome patients.

98 osome 22 near the region commonly deleted in DiGeorge and other apparent haploinsufficiency syndromes

99 syntenic with the region commonly deleted in DiGeorge and velocardiofacial syndrome (DGS/VCFS) patien

100 that maps to the region commonly deleted in DiGeorge and velocardiofacial syndromes.

101 ES2 is a gene deleted in DiGeorge syndrome (DGS) and velocardiofacial syndrome (V

102 Nebulette was shown to be deleted in DiGeorge Syndrome 2 patients with the proximal deletion

103 area of 2 Mb and is consistently deleted in DiGeorge syndrome and related disorders.

104 megabases, which is consistently deleted in DiGeorge syndrome and related disorders.

105 (Gscl), which is one of the genes deleted in DiGeorge syndrome or 22q11 deletion syndrome.

106 I endonuclease, and DGCR8, a gene deleted in DiGeorge syndrome.

107 ein, DGCR8, the product of a gene deleted in DiGeorge syndrome.

108 or understanding congenital heart disease in DiGeorge syndrome.

109 f the aortic arch type B, typically found in DiGeorge syndrome.

110 strate the pathogenetic role of this gene in DiGeorge syndrome and generate new hypotheses about its

111 The research interest in DiGeorge syndrome (DGS) is partly due to its clinical im

112 chanism contributing to OFT malformations in DiGeorge syndrome.

113 present with phenotypic effects observed in DiGeorge syndrome patients however, the molecular mechan

114 pharyngeal apparatus and its perturbation in DiGeorge's syndrome; the second is the induction and dif

115 for defective pharyngeal arch remodeling in DiGeorge/Velocardiofacial syndrome.

116 These include DiGeorge syndrome, Velocardiofacial syndrome, Cat-eye sy

117 he causes of the T-cell lymphopenia included DiGeorge syndrome (n = 2), idiopathic T-cell lymphopenia

118 he 22q11.2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes (DGS/VCFS), is t

119 deletion syndrome (22q11DS), which includes DiGeorge and velocardiofacial syndromes, develops psychi

120 le genetic developmental disorders including DiGeorge/22q11.2 Deletion Syndrome (22q11.2 DS).

121 2q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (V

122 u hybridization analysis (FISH), the minimal DiGeorge critical region (MDGCR) has been narrowed to 25

123 leted in patients with DGS/VCFS, the minimal DiGeorge critical region (MDGCR).

124 Tbx1 mouse mutants model DiGeorge syndrome, a disorder of pharyngeal and cardiova

125 Tbx1 haploinsufficient embryos, which model DiGeorge syndrome, display fourth arch artery defects du

126 Although approximately 31% of DiGeorge/del22q11.2 syndrome patients exhibit GU defects

127 asis of the most clinically severe aspect of DiGeorge syndrome and uncovers a new mechanism leading t

128 It is the genetic basis of DiGeorge syndrome and causes the most common deletion sy

129 an chromosome 22q11 are the genetic basis of DiGeorge/velocardiofacial syndrome (DGS/VCFS), the most

130 cognitive and behavioral characteristics of DiGeorge syndrome patients, disruption of this newly des

131 monocyte/macrophage precursors deficient of DiGeorge syndrome critical region gene 8, an RNA binding

132 x1, the major determinant in the etiology of DiGeorge/velo-cardio-facial/22q11.2 deletion syndrome.

133 Gscl(-/-) mice also lacked the expression of DiGeorge syndrome critical region 14 (Dgcr14) in the IP.

134 alformations that encompass most features of DiGeorge and Velo-Cardio-Facial syndromes in humans.

135 ice with hepatocyte-specific inactivation of DiGeorge syndrome critical region gene 8 (DGCR8), an ess

136 Mouse models of DiGeorge syndrome have been created that recapitulate de

137 rgan defects such as those seen in models of DiGeorge syndrome were not observed, arguing against an

138 in many aspects to those in mouse models of DiGeorge syndrome.

139 hymic hypoplasia/aplasia occurs as a part of DiGeorge syndrome, which has several known genetic cause

140 s on chromosome 22q11 in the pathogenesis of DiGeorge syndrome is summarized.

141 p22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which t

142 niofacial defects, phenotypes reminiscent of DiGeorge syndrome, was mapped to mouse chromosome 2.

143 This article is an update on DiGeorge syndrome research focusing on the synergy of hu

144 The 22q11 deletion (or DiGeorge) syndrome (22q11DS), the result of a 1.5- to 3-

145 inase drivers to inactivate either Dicer1 or DiGeorge syndrome critical region 8 (Dgcr8), thus removi

146 rome (22q11DS) (velocardiofacial syndrome or DiGeorge syndrome) is the most common known contiguous g

147 Partial DiGeorge syndrome (pDGS) is caused by deletion of the 22

148 Partial DiGeorge syndrome (pDGS), which is characterized by a nu

149 he thymic structure of patients with partial DiGeorge syndrome or hypomorphic RAG is abnormal, with d

150 of infant thymectomy, patients with partial DiGeorge syndrome or hypomorphic recombination-activatin

151 ncy of autoimmunity in patients with partial DiGeorge syndrome was estimated at 8.5%, predominantly r

152 ber of human diseases, including potentially DiGeorge syndrome, which is characterised by abnormal de

153 Pre-procedural ventilation, prematurity, DiGeorge syndrome, and pulmonary atresia were more commo

154 We confirmed the pronounced DiGeorge critical region 8 (Dgcr8)-dependent deficits in

155 The RNA-binding protein DiGeorge Critical Region 8 (DGCR8) and its partner nucle

156 nar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH deficiency/TBX19 and cleft

157 oss of head mesenchyme and, at later stages, DiGeorge Syndrome-like heart defects, including common a

158 s with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) typically e

159 andidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by

160 The 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) is associated with a

161 frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which

162 ost patients with velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome

163 Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes hav

164 r() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetraso

165 portant gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) in humans, causes outflow t

166 Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly dis

167 Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo

168 ost persons with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), and they map immediately a

169 2) syndrome, and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), result from tetrasomy, tri

170 nomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS).

171 Velo-cardio-facial syndrome/DiGeorge syndrome results from unequal crossing-over eve

172 letion (22q11DS; velo-cardio-facial syndrome/DiGeorge syndrome) is characterized by defects in the de

173 associated with velo-cardio-facial syndrome/DiGeorge syndrome, der(22) syndrome, and cat-eye syndrom

174 Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11.2DS)

175 ion deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase

176 22q11, leading to velocardiofacial syndrome/DiGeorge syndrome and cat-eye syndrome by homologous rec

177 We previously found that DiGeorge Critical Region 8 (DGCR8), an essential microRN

178 The DiGeorge chromosomal region has been entirely sequenced

179 The DiGeorge syndrome is a congenital disorder that affects

180 The DiGeorge syndrome, the most common of the microdeletion

181 The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relat

182 associated with tetralogy of Fallot and the DiGeorge syndrome.

183 Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent.

184 MultiFISH as having a micro-deletion at the DiGeorge/velocardiofacial commonly deleted region.

185 The commonly deleted region, called the DiGeorge chromosomal region (DGCR), spans approximately

186 fants with congenital thymic deficiency (the DiGeorge syndrome) have immunodeficiency and a character

187 Here, we characterize the human DGCR8, the DiGeorge syndrome critical region gene 8, and its Drosop

188 related to the presence of a deletion in the DiGeorge chromosomal region of 22q11.

189 2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and

190 localizes to human chromosome 22q11.2 in the DiGeorge syndrome critical region (DGCR).

191 zed the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine gen

192 o the group of clinical defects found in the DiGeorge syndrome.Previous studies have suggested an ind

193 tic kinship is dramatically reflected in the DiGeorge/Cardio-Velo-Facial syndrome (DGS/CVFS), where m

194 These include the DiGeorge, Holt-Oram, Alagille, familial primary pulmonar

195 wide variety of birth defects including the DiGeorge syndrome and velo-cardio-facial (Shprintzen) sy

196 most common deletion syndrome, including the DiGeorge syndrome phenotype.

197 n TBX1 gene, which maps to the center of the DiGeorge chromosomal region.

198 in humans causes most of the features of the DiGeorge or Velocardiofacial syndrome phenotypes, includ

199 Tbx1(+/-) mice mimic aspects of the DiGeorge phenotype with variable penetrance, and null mi

200 fish that carry mutations in homologs of the DiGeorge syndrome gene TBX1, a lack of pouches correlate

201 nts as happens commonly with the loci of the DiGeorge syndrome on human chromosome 22.

202 rate at least one important component of the DiGeorge syndrome phenotype in mice, and demonstrate the

203 thymus, and in an experimental model of the DiGeorge syndrome, the most common form of human thymic

204 idization using cosmid probes mapping to the DiGeorge chromosomal region is a widely available method

205 Our technique has been applied to the DiGeorge critical region and has resulted in the isolati

206 CDC45L is the first gene mapped to the DiGeorge syndrome critical region interval whose loss ma

207 opment and exhibit defects comparable to the DiGeorge syndrome spectrum.

208 ll individuals are within LCRs distal to the DiGeorge/velocardiofacial microdeletion region.

209 HIRA maps to the DiGeorge/velocardiofacial syndrome critical region (DGCR

210 has been observed only in patients with the DiGeorge anomaly.

211 ternally transmitted HIV, 5 infants with the DiGeorge syndrome, and 168 infants exposed to HIV but no

212 notypes similar to those of infants with the DiGeorge syndrome.

213 Nine of the HIV-infected infants with the DiGeorge-like immunophenotype (53 percent) died within s

214 anscriptional regulators and maps within the DiGeorge critical region.

215 We found that MeCP2 binds directly to DiGeorge syndrome critical region 8 (DGCR8), a critical

216 Deletions at 22q11.2 are linked to DiGeorge or velocardiofacial syndrome (VCFS), whose hall

217 VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associate

218 uggest that this gene may also be related to DiGeorge syndrome.

219 ons were rare among patients lacking typical DiGeorge syndrome (DGS) or velocardiofacial (VCF) dysmor

220 es, namely velocardiofacial syndrome (VCFS), DiGeorge anomaly (DGA), and conotruncal anomaly face, wh

221 The velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a genetic disorder characteri

222 Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterize

223 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdel

224 iovascular abnormalities in velocardiofacial/DiGeorge syndrome.

225 art defects, including those associated with DiGeorge syndrome.

226 d craniofacial birth defects associated with DiGeorge syndrome.

227 or to cardiovascular disease associated with DiGeorge syndrome.

228 at human chromosome 22q11.2 associated with DiGeorge/22q11.2 deletion syndrome (22q11DS), have crani

229 sis because loss of Tbx1 in individuals with DiGeorge syndrome and in experimental Tbx1 deletion muta

230 can occur independently in individuals with DiGeorge syndrome.

231 esembling those observed in individuals with DiGeorge syndrome.

232 This reduces its interaction with DiGeorge syndrome critical region gene 8 and promotes it

233 The majority of patients with DiGeorge syndrome (DGS) and velo-cardio-facial syndrome

234 The vast majority of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome (V

235 The majority of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome (V

236 The majority of patients with DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS

237 are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face

238 The majority of patients with DiGeorge, velocardiofacial or conotruncal anomaly facial

239 ons are found in almost 90% of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS).