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 the most common human chromos

9 DiGeorge syndrome affects more than 3.5 million persons

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

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

12 DiGeorge syndrome is a common congenital disorder charac

13 DiGeorge syndrome is characterized by cardiovascular, th

14 DiGeorge syndrome, velocardiofacial syndrome and various

15 DiGeorge syndrome, velocardiofacial syndrome, conotrunca

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

48 phenotype reported in patients afflicted by DiGeorge syndrome.

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

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

51 Complete DiGeorge anomaly refers to the subgroup that is athymic

52 Complete DiGeorge syndrome is a fatal condition in which infants

53 Complete DiGeorge syndrome is a fatal congenital disorder charact

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

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

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

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

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

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

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

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

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

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

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

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

66 dered as treatment for infants with complete DiGeorge syndrome.

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

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

69 22q11-deletion (DiGeorge/velocardiofacial) syndrome (22q11DS) is modeled

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

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

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

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

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

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

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

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

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

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

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

81 henotypic severity in TBX1 haploinsufficient DiGeorge syndrome patients.

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

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

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

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

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

87 molecular basis for craniofacial defects in DiGeorge syndrome patients.

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

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

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

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

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

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

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

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

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

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

98 or understanding congenital heart disease in DiGeorge syndrome.

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

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

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

102 chanism contributing to OFT malformations in DiGeorge syndrome.

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

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

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

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

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

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

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

110 2q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (V

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

160 22q11, leading to velocardiofacial syndrome/DiGeorge syndrome and cat-eye syndrome by homologous rec

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

162 The DiGeorge chromosomal region has been entirely sequenced

163 The DiGeorge syndrome is a congenital disorder that affects

164 The DiGeorge syndrome, the most common of the microdeletion

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

166 associated with tetralogy of Fallot and the DiGeorge syndrome.

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

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

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

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

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

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

173 2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

197 anscriptional regulators and maps within the DiGeorge critical region.

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

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

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

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

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

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

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

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

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

207 iovascular abnormalities in velocardiofacial/DiGeorge syndrome.

208 art defects, including those associated with DiGeorge syndrome.

209 d craniofacial birth defects associated with DiGeorge syndrome.

210 or to cardiovascular disease associated with DiGeorge syndrome.

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

212 can occur independently in individuals with DiGeorge syndrome.

213 esembling those observed in individuals with DiGeorge syndrome.

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

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

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

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

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

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

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

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