ライフサイエンスコーパス: DiGeorge syndrome

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

2 iovascular abnormalities in velocardiofacial/DiGeorge syndrome.

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

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

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

6 ple, the effects of the deletion causing the diGeorge syndrome.

7 chanism contributing to OFT malformations in DiGeorge syndrome.

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

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

10 phenotype reported in patients afflicted by DiGeorge syndrome.

11 esembling those observed in individuals with DiGeorge syndrome.

12 or to cardiovascular disease associated with DiGeorge syndrome.

13 associated with tetralogy of Fallot and the DiGeorge syndrome.

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

15 can occur independently in individuals with DiGeorge syndrome.

16 or understanding congenital heart disease in DiGeorge syndrome.

17 art defects, including those associated with DiGeorge syndrome.

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

19 d craniofacial birth defects associated with DiGeorge syndrome.

20 dered as treatment for infants with complete DiGeorge syndrome.

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

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

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

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

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

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

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

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

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

30 DiGeorge syndrome affects more than 3.5 million persons

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

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

33 22q11, leading to velocardiofacial syndrome/DiGeorge syndrome and cat-eye syndrome by homologous rec

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

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

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

37 2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

74 Here, we studied the roles of DIGEORGE-SYNDROME CRITICAL REGION 14-like (AtDGCR14L) in

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

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

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

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

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

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

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

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

83 2q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (V

84 DiGeorge syndrome (DGS) and velocardiofacial syndrome ha

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

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

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

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

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

90 DiGeorge syndrome (DGS) is a congenital disease characte

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

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

93 DiGeorge syndrome (DGS) is a primary immunodeficiency ch

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

110 DiGeorge syndrome is a common congenital disorder charac

111 The DiGeorge syndrome is a congenital disorder that affects

112 Complete DiGeorge syndrome is a fatal condition in which infants

113 Complete DiGeorge syndrome is a fatal congenital disorder charact

114 DiGeorge syndrome is characterized by cardiovascular, th

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

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

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

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

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

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

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

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

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

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

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

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

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

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

129 henotypic severity in TBX1 haploinsufficient DiGeorge syndrome patients.

130 molecular basis for craniofacial defects in DiGeorge syndrome patients.

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

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

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

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

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

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

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

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

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

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

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

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

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

144 The DiGeorge syndrome, the most common of the microdeletion

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

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

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

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

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

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

158 DiGeorge syndrome, velocardiofacial syndrome and various

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

160 DiGeorge syndrome, velocardiofacial syndrome, conotrunca

161 ap in the patients we have studied defines a DIGeorge syndrome/velocardiofacial syndrome (DGS/VCFS) m

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

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

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

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

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

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

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

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

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

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

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