ライフサイエンスコーパス: conotruncal

1 iology, may be poorly suited to the study of conotruncal abnormalities in human disease.

2 systems genetics toward the understanding of conotruncal and aortic arch defects.

3 ay (E) 13.5 and 15.5 and harbor a variety of conotruncal and aortic sac defects making it an excellen

4 greater for exposures to dyes and pigments (conotruncal and CP), propellants (CP), and insecticides

5 and CP), propellants (CP), and insecticides (conotruncal and CP).

6 These patients exhibit conotruncal and craniofacial anomalies that arise from p

7 bit significant perinatal lethality and have conotruncal and parathyroid defects.

8 ands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstruct

9 om 608 prospectively recruited patients with conotruncal anomalies (n = 370), left-sided lesions (n =

10 This review explores the various conotruncal anomalies and elucidates the role of CT imag

11 ities, and Ear anomalies) syndrome, in which conotruncal anomalies are the most prevalent form of hea

12 combined deficiencies of Msx1 and Msx2 cause conotruncal anomalies associated with malalignment of th

13 Conotruncal anomalies can be diagnosed by prenatal echoc

14 The major conotruncal anomalies include tetralogy of Fallot, doubl

15 cohort study was conducted on patients with conotruncal anomalies who underwent lung perfusion scans

16 Conotruncal anomalies, also referred to as outflow tract

17 Among residual VSDs after repair of conotruncal anomalies, intramural VSDs are uniquely asso

18 rabeculations that can occur after repair of conotruncal anomalies.

19 various congenital heart diseases, including conotruncal anomalies.

20 phic diagnosis and prognosis of fetuses with conotruncal anomalies.

21 previous reports specifically address fetal conotruncal anomalies.

22 ome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAFS) and some indiv

23 More recently, patients with conotruncal anomaly face syndrome and some nonsyndromic

24 ardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, and in some patients

25 iGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and isolated and fami

26 patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes in which conotruncal

27 syndrome (VCFS), DiGeorge anomaly (DGA), and conotruncal anomaly face, which are associated with dele

28 patients with DiGeorge, velocardiofacial or conotruncal anomaly facial syndromes share a common gene

29 dren who underwent biventricular repair of a conotruncal anomaly from January 1, 2006, to June 30, 20

30 The overall prognosis for fetuses with a conotruncal anomaly is poor, with the exception of uncom

31 61 fetuses, in which a fetal diagnosis of a conotruncal anomaly was made, were reviewed.

32 rsely, pressure-overload in the ventricle by conotruncal banding results in a significant expansion o

33 eviously characterized as causing increased (conotruncal banding, CTB) or reduced (left atrial ligati

34 hat many patients with a 22q11 deletion have conotruncal cardiac defects and aortic arch anomalies.

35 ld be reduced in normocalcemic children with conotruncal cardiac defects but no overt immune deficien

36 syndrome, and isolated and familial forms of conotruncal cardiac defects have been associated with de

37 nonsyndromic patients with isolated forms of conotruncal cardiac defects have been found to have 22q1

38 d some individuals with familial or sporadic conotruncal cardiac defects have hemizygous deletions of

39 A significant number of children with conotruncal cardiac defects have normocalcemia and a nor

40 us region of chromosome 16 (Lgdel/+) exhibit conotruncal cardiac defects similar to those seen in aff

41 ndrome) typically exhibit thymic hypoplasia, conotruncal cardiac defects, and hypoparathyroidism.

42 o-facial syndrome (VCFS) is characterized by conotruncal cardiac defects, cleft palate, learning disa

43 t broad and variable phenotypes that include conotruncal cardiac defects, hypocalcemia, palatal and f

44 Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroi

45 rmalities observed in these patients include conotruncal cardiac defects, thymic hypoplasia or aplasi

46 ciency, hypocalcemic hypoparathyroidism, and conotruncal cardiac defects.

47 ial for heart development and contributes to conotruncal cushion formation and outflow tract septatio

48 ive accumulation of mesenchymal cells in the conotruncal cushions may work together to perturb the ro

49 lls populate the aorticopulmonary septum and conotruncal cushions prior to and during overt septation

50 Moreover, within the conotruncal cushions, Fak-deficient NCCs formed a less o

51 ion midway from the pharyngeal arches to the conotruncal cushions.

52 est, endothelial and myocardial cells in the conotruncal cushions.

53 The most common diagnosis was conotruncal defect (70.5%), with a native or patched RVO

54 ed with mothers of 662 CLP and CP cases, 207 conotruncal defect cases, 165 limb deficiency cases, and

55 ification was associated with lower rates of conotruncal defects (adjusted rate ratio [aRR], 0.73, 95

56 Mortality was highest among patients with conotruncal defects (HR, 10.13 [95% CI, 8.78-11.69]), bu

57 ly stronger for mothers than for fathers for conotruncal defects (ratio of RRs, 4.98), left ventricul

58 (RR = 2.15; 95% CI: 1.27, 3.62; n = 15), and conotruncal defects (RR = 4.91; 95% CI: 1.58, 15.24; n =

59 Conotruncal defects and atrioventricular septal defects

60 7 in neural crest cells (NCCs) causes severe conotruncal defects and perinatal lethality, thus provid

61 ectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequen

62 conotruncal anomaly face syndromes in which conotruncal defects are a cardinal feature.

63 The conotruncal defects are first observed at E11.5 and are

64 The conotruncal defects can be partially rescued by a human

65 Conotruncal defects due to developmental abnormalities o

66 erarchical CHD classification, patients with conotruncal defects had the highest risk (hazard ratio,

67 Associated conotruncal defects included malrotation of the aorta an

68 ltaenh/Deltaenh) mice recapitulated cyanotic conotruncal defects seen in patients with NKX2-5, GATA6,

69 others who did not use vitamins, the risk of conotruncal defects was 2.1 (95% confidence interval: 0.

70 e of 22q11 deletions among patients with the conotruncal defects was estimated at 8% to 17%.

71 Two hundred fifty-one patients with conotruncal defects were prospectively enrolled into the

72 Impressive progress has been made in conotruncal defects, Holt-Oram syndrome, Alagille syndro

73 t, perimembranous ventricular septal defect, conotruncal defects, left ventricular outflow tract defe

74 left lip with or without cleft palate (CLP), conotruncal defects, or limb deficiencies.

75 or without cleft palate, cleft palate only, conotruncal defects, ventricular septal defects, urinary

76 bserved relative to the A80/A80 genotype for conotruncal defects.

77 nceptional intake of vitamins on the risk of conotruncal defects.

78 rozygous for a null mutation in Tbx1 develop conotruncal defects.

79 ines for deletion screening of patients with conotruncal defects.

80 How CHD7 regulates conotruncal development remains unclear.

81 larly sensitive to FGF8 signaling for normal conotruncal development, and further, that cardiac neura

82 for 2 nearby genes BDH1 and DLG1 involved in Conotruncal development.

83 sgenes were expressed in a right ventricular/conotruncal dominant fashion, suggesting that they conta

84 ating cardiac septation, valvulogenesis, and conotruncal formation.

85 the Children's Hospital of Philadelphia: 670 conotruncal heart defect (CTD) case-parent trios, 317 le

86 deletion syndrome (22q11DS) characterized by conotruncal heart defects (CTDs) and other congenital an

87 atients within a narrow spectrum of isolated conotruncal heart defects (minimum 5%-10% of subjects),

88 ypes including velopharyngeal insufficiency, conotruncal heart defects and facial dysmorphology among

89 ons, but atrioventricular septal defects and conotruncal heart defects are over-represented.

90 Associated conotruncal heart defects included malrotation of the ao

91 otch (Sp2H) mouse, results in development of conotruncal heart defects including persistent truncus a

92 onnexin 43 knockout (Cx43alpha1KO) mice have conotruncal heart defects that are associated with a red

93 ted whether the risks of orofacial clefts or conotruncal heart defects were influenced by a polymorph

94 left palate, 123 with cleft palate, 163 with conotruncal heart defects, and 364 nonmalformed controls

95 ectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology.

96 by a wide spectrum of phenotypes, including conotruncal heart defects, cleft palate, and facial dysm

97 is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and l

98 ers characterized by craniofacial anomalies, conotruncal heart defects, immune deficiencies, and lear

99 milar to those described in congenital human conotruncal heart defects, suggesting that PCD-dependent

100 a wide spectrum of abnormalities, including conotruncal heart defects, velopharyngeal insufficiency,

101 uses OFT defects that model congenital human conotruncal heart defects.

102 tic mutations or teratogens that cause human conotruncal heart defects.

103 rdation, preauricular skin tags or pits, and conotruncal heart defects.

104 characterized by craniofacial anomalies and conotruncal heart defects.

105 onfirm the importance of Cx43 gene dosage in conotruncal heart development and suggest that this like

106 of gap junctions and cardiac crest cells in conotruncal heart development.

107 llele frequency, 0.003 [odds ratio, 3.37 for Conotruncal heart disease]; P=1.49x10(-8)) is predicted

108 allele frequency, 0.11 [odds ratio, 1.4 for Conotruncal heart disease]; P=2.6x10(-)(8)) physically i

109 Connexin43 knockout mice die neonatally from conotruncal heart malformation and outflow obstruction.

110 Previous studies showed that conotruncal heart malformations can arise with the incre

111 As in the knockout mice, the conotruncal heart malformations were accompanied by outf

112 left palate, and the most common syndrome of conotruncal heart malformations.

113 Although conotruncal lesions (31.5%) were the most commonly repor

114 and the Gja1W45X connexin43 mutation caused conotruncal malformation and coronary aneurysms.

115 ediated forced expression of VEGF165 induced conotruncal malformation such as double outlet right ven

116 aorta to determine the embryogenesis of this conotruncal malformation.

117 Connexin 43 knockout (Cx43 KO) mice exhibit conotruncal malformations and coronary artery defects.

118 er one third of the hearts (14 of 39) showed conotruncal malformations corresponding to either DORV o

119 Congenital conotruncal malformations frequently involve dextroposed

120 ceptible to abnormal development, leading to conotruncal malformations in children.

121 oderm that contributes to the aortic sac and conotruncal myocardium.

122 abnormalities in the differentiation of the conotruncal myocardium.

123 ficient recruitment of cardiac NCCs into the conotruncal region and for formation of the aortico-pulm

124 muscle defects, ventricular septal defects, conotruncal ridge defects, atrioventricular cushion defe

125 icular septal, atrioventricular cushion, and conotruncal ridge defects, with double outlet right vent

126 site sides of the aortic sac and entered the conotruncal ridges.

127 Using the transgene as a conotruncal segment-specific marker, we were able to doc

128 ence element of the gene was found to confer conotruncal segment-specific transgene expression.

129 with congenital heart disease, most notably conotruncal structural defects.

130 rch derivatives and abnormal organization of conotruncal structures in the developing heart.

131 have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardi

132 congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect.