ライフサイエンスコーパス: DiGeorge syndrome

1 iovascular abnormalities in velocardiofacial/DiGeorge syndrome.

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

3 chanism contributing to OFT malformations in 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 f the aortic arch type B, typically found in DiGeorge syndrome.

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

8 phenotype reported in patients afflicted by DiGeorge syndrome.

9 esembling those observed in individuals with DiGeorge syndrome.

10 or to cardiovascular disease associated with DiGeorge syndrome.

11 associated with tetralogy of Fallot and the DiGeorge syndrome.

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

13 can occur independently in individuals with DiGeorge syndrome.

14 or understanding congenital heart disease in DiGeorge syndrome.

15 art defects, including those associated with DiGeorge syndrome.

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

17 d craniofacial birth defects associated with DiGeorge syndrome.

18 dered as treatment for infants with complete DiGeorge syndrome.

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

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

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

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

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

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

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

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

27 DiGeorge syndrome affects more than 3.5 million persons

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

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

30 22q11, leading to velocardiofacial syndrome/DiGeorge syndrome and cat-eye syndrome by homologous rec

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

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

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

34 2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

74 2q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (V

75 DiGeorge syndrome (DGS) and velocardiofacial syndrome ha

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

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

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

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

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

81 DiGeorge syndrome (DGS) is a congenital disease characte

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

98 DiGeorge syndrome is a common congenital disorder charac

99 The DiGeorge syndrome is a congenital disorder that affects

100 Complete DiGeorge syndrome is a fatal condition in which infants

101 Complete DiGeorge syndrome is a fatal congenital disorder charact

102 DiGeorge syndrome is characterized by cardiovascular, th

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

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

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

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

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

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

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

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

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

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

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

114 henotypic severity in TBX1 haploinsufficient DiGeorge syndrome patients.

115 molecular basis for craniofacial defects in DiGeorge syndrome patients.

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

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

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

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

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

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

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

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

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

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

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

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

128 The DiGeorge syndrome, the most common of the microdeletion

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

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

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

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

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

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

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

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

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

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

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

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

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

142 DiGeorge syndrome, velocardiofacial syndrome and various

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

144 DiGeorge syndrome, velocardiofacial syndrome, conotrunca

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

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

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

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

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

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

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

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

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

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