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

11 Conotruncal anomalies can be diagnosed by prenatal echoc

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

13 rabeculations that can occur after repair of conotruncal anomalies.

14 phic diagnosis and prognosis of fetuses with conotruncal anomalies.

15 previous reports specifically address fetal conotruncal anomalies.

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

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

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

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

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

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

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

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

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

25 61 fetuses, in which a fetal diagnosis of a conotruncal anomaly was made, were reviewed.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

40 ciency, hypocalcemic hypoparathyroidism, and conotruncal cardiac defects.

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

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

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

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

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

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

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

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

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

50 Conotruncal defects and atrioventricular septal defects

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

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

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

54 The conotruncal defects can be partially rescued by a human

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

56 Associated conotruncal defects included malrotation of the aorta an

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

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

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

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

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

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

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

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

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

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

67 ines for deletion screening of patients with conotruncal defects.

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

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

70 ating cardiac septation, valvulogenesis, and conotruncal formation.

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

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

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

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

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

76 Associated conotruncal heart defects included malrotation of the ao

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

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

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

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

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

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

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

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

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

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

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

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

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

90 characterized by craniofacial anomalies and conotruncal heart defects.

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

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

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

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

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

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

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

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

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

100 aorta to determine the embryogenesis of this conotruncal malformation.

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

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

103 Congenital conotruncal malformations frequently involve dextroposed

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

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

106 abnormalities in the differentiation of the conotruncal myocardium.

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

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

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

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

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

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

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

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