ライフサイエンスコーパス: heterotaxy

1 us inversus totalis (SIT) to situs ambiguus (heterotaxy).

2 ongenital heart diseases: cardiomyopathy and heterotaxy.

3 have been implicated in the pathogenesis of heterotaxy.

4 studied in 38 cases of sporadic and familial heterotaxy.

5 etallopeptidase 21) in nine index cases with heterotaxy.

6 lity, and reveal a novel mechanism for human heterotaxy.

7 sociated with cardiac laterality defects and heterotaxy.

8 to include neonatal respiratory distress and heterotaxy.

9 in congenital LR axis patterning defects or heterotaxy.

10 Dnahc5 mutation may also be associated with heterotaxy.

11 ts, respectively, and 6.3% (21 patients) had heterotaxy.

12 5% with situs inversus totalis, and 40% with heterotaxy.

13 utation within this region in a patient with heterotaxy.

14 ed SHF Hh signaling and caused AVSDs without heterotaxy.

15 ude affected females and CHD not typical for heterotaxy.

16 romosome responsible for some cases of human heterotaxy.

17 in unrelated males with sporadic or familial heterotaxy.

18 y obligatory in "asymptomatic" patients with heterotaxy?

19 patients, including 61 patients with classic heterotaxy, 93 patients with heart defects characteristi

20 Mutations in ZIC3 cause X-linked heterotaxy, a disorder characterized by abnormal lateral

21 a patient with congenital heart disease and heterotaxy, a disorder of left-right patterning, we prev

22 ed cardiovascular malformations and X-linked heterotaxy, a disorder with abnormal left-right asymmetr

23 ling and caused AVSDs only concurrently with heterotaxy, a left/right axis abnormality.

24 bnormal left-right-axis formation results in heterotaxy, a multiple-malformation syndrome often chara

25 mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, s

26 This mutation causes heterotaxy and complex congenital heart defects and was

27 1 had one fetus and one deceased child with heterotaxy and complex congenital heart malformations.

28 gical nodal cilia are a significant cause of heterotaxy and congenital heart disease, and screening f

29 ger transcription factor ZIC3 cause X-linked heterotaxy and have also been identified in patients wit

30 Mutations in ZIC3 cause human X-linked heterotaxy and isolated cardiovascular malformations.

31 ative contribution of ZIC3 mutations to both heterotaxy and isolated CHD, we screened the coding regi

32 in node ultrastructure underlies its role in heterotaxy and laterality disorders.

33 Several genes have now been implicated in heterotaxy and related isolated congenital heart malform

34 riants in NODAL are present in patients with heterotaxy and/or isolated cardiovascular malformations

35 atients with heart defects characteristic of heterotaxy, and 11 patients with situs inversus totalis.

36 At least 6.3% of patients with PCD have heterotaxy, and most of those have cardiovascular abnorm

37 s a candidate disease gene in a patient with heterotaxy, and now demonstrate, in Xenopus tropicalis,

38 nd mechanisms underlying most cases of human heterotaxy are poorly understood.

39 he molecular mechanism(s) by which it causes heterotaxy are unknown.

40 Randomly selected cases of heterotaxy are unlikely to be the result of mutations in

41 zinc finger transcription factor ZIC3 cause heterotaxy as well as isolated congenital heart disease.

42 Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left

43 l anomalies are frequent among patients with heterotaxy, but debate exists as to whether they are ben

44 These studies indicate that heterotaxy can be caused by single gene mutations.

45 Both display heterotaxy, cardiopulmonary malformations and cystic kid

46 ality was 15% compared with 41% in the early heterotaxy cohort.

47 ormal arrangement (situs solitus) results in heterotaxy, expressed either as randomization (situs amb

48 ambiguus and inversus, can appear among some heterotaxy families.

49 We assessed 43 CHD patients with heterotaxy for airway CD.

50 Twelve patients with heterotaxy had cardiac and/or vascular abnormalities, an

51 Embryos with heterotaxy had complex structural heart defects that inc

52 Our studies show that CHD patients with heterotaxy have substantial risk for CD and increased re

53 Laterality defects (heterotaxy) have been associated with connexin43 mutatio

54 Heterotaxy (Htx), a congenital heart disease resulting f

55 In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, w

56 X-linked heterotaxy (HTX1) is a rare developmental disorder chara

57 d studied a large family in which a gene for heterotaxy, HTX1, was mapped to a 19-cM region in Xq24-q

58 Mutations in ZIC3 result in X-linked heterotaxy in humans, a syndrome consisting of left-righ

59 the phenotypic concordance between AVSDs and heterotaxy in mice and humans with cilia gene mutations.

60 Genes currently implicated in human heterotaxy include ZIC3, LEFTYA, CRYPTIC, and ACVR2B.

61 eening of a cohort of patients with sporadic heterotaxy indicates that ZIC3 mutations account for app

62 fish embryos resulted in a high incidence of heterotaxy, indicating a conserved role in laterality sp

63 prevalence of congenital heart disease with heterotaxy is 200-fold higher in PCD than in the general

64 Heterotaxy is a complex set of birth defects in which th

65 Heterotaxy is a disorder of left-right body patterning,

66 Heterotaxy is an abnormal arrangement of thoraco-abdomin

67 ral history of unoperated cardiac lesions in heterotaxy is known to be poor.

68 Active research on the etiology of heterotaxy is leading to a reformulation of the likely e

69 Five novel ZIC3 mutations in three classic heterotaxy kindreds and two sporadic CHD cases were iden

70 The surprisingly high incidence of heterotaxy led us to evaluate the diagnosis of PCD.

71 Heterotaxy may be caused by teratogenic exposures, espec

72 Familial heterotaxy occurs with autosomal dominant, recessive and

73 cases (n = 269) affected with either classic heterotaxy or looping CVM revealed four different missen

74 , most of the embryos that failed to develop heterotaxy or situs inversus in response to misregulated

75 A variable incidence of heterotaxy, or irregular organ situs, also has been repo

76 One heterotaxy patient with CD had the PCD causing DNAI1 fou

77 Early survival has improved for heterotaxy patients after the Fontan operation; however,

78 of mutations in mapped NLS or NES domains in heterotaxy patients demonstrates the functional importan

79 f prescreening and prophylactically treating heterotaxy patients for CD.

80 Heterotaxy patients with CD were enriched for mutations

81 Sequencing of all 14 known PCD genes in 13 heterotaxy patients with CD, 12 without CD, 10 PCD disea

82 on of candidate genes that may be mutated in heterotaxy patients, and epidemiologic studies are helpi

83 roups failed to find connexin43 mutations in heterotaxy patients, suggesting genetic heterogeneity.

84 te to increased respiratory complications in heterotaxy patients.

85 Zic3 null mice recapitulate the human heterotaxy phenotype but also have early gastrulation de

86 Heterotaxy results from a failure to establish normal le

87 Heterotaxy results from failure to establish normal left

88 ents with congenital heart disease (CHD) and heterotaxy show high postsurgical morbidity/mortality, w

89 CD), and there are a few reports of PCD with heterotaxy (situs ambiguus), such as cardiovascular anom

90 f Fallot (n=127), pulmonary atresia (n=177), heterotaxy syndrome (n=38), and other (n=213).

91 isplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome and means ambiguous location of the

92 sure, transpulmonary gradient or presence of heterotaxy syndrome between patients with positive contr

93 A total of 142 patients with heterotaxy syndrome had a modified Fontan operation.

94 g)-superfamily member, ZIC3, causes X-linked heterotaxy syndrome in humans but has not been investiga

95 Patients with a Holmes heart or heterotaxy syndrome or who were lost to follow-up (n = 2

96 heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac

97 modified Fontan operation for patients with heterotaxy syndrome, assess variables traditionally know

98 raft from a pediatric donor with polysplenic heterotaxy syndrome, including intestinal malrotation, m

99 of middle lobe fissure on CTscans suggesting heterotaxy syndrome.

100 ns in isolated AVSD and AVSD associated with heterotaxy syndrome.

101 cle can share a common genetic etiology with heterotaxy syndrome.

102 e second class, which appears to model human heterotaxy syndrome.

103 summarize recent research on the etiology of heterotaxy syndromes.

104 ing 187 individuals with laterality defects (heterotaxy) that were associated with a congenital heart

105 Patients with heterotaxy were identified from the Mayo Clinic Fontan d

106 of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveli

107 Seven of 12 patients with heterotaxy who were genotyped had mutations in DNAI1 or

108 efects, including situs inversus totalis and heterotaxy with randomized situs and left and right isom