ライフサイエンスコーパス: situs inversus

1 mage reversal of all lateralized structures (situs inversus).

2 usitis, male infertility, hydrocephalus, and situs inversus.

3 ary dysfunction, sino-pulmonary disease, and situs inversus.

4 ing cystic kidney disease, hydrocephalus and situs inversus.

5 s the gene mutated in NPHP2 with and without situs inversus.

6 ied after surgery for tetralogy of Fallot in situs inversus.

7 (inv), in which all individuals develop with situs inversus.

8 ion, such as hydrocephalus, kidney cysts and situs inversus.

9 uding renal cysts, retinal degeneration, and situs inversus [7-9].

10 In a family affected by RP and situs inversus, a homozygous, splice-acceptor mutation,

11 he frameshift allele is also associated with situs inversus among some heterozygous females, suggesti

12 including recurrent respiratory infections, situs inversus and ciliary immotility.

13 Because defective cilia have been linked to situs inversus and cystogenesis, we examined inv/inv cil

14 NAAF3 gene in individuals from families with situs inversus and defects in the assembly of inner and

15 terized by recurrent respiratory infections, situs inversus and infertility.

16 ive deletion of the inversin gene results in situs inversus and jaundice.

17 ither normally or are mirror-image-reversed (situs inversus), and inversion of embryonic turning (inv

18 ophthisis is associated with cystic kidneys, situs inversus, and INVS mutations.

19 tion, cerebellar hypoplasia, liver fibrosis, situs inversus, and mental retardation.

20 etinitis pigmentosa, liver fibrosis, ataxia, situs inversus, and mental retardation.

21 uman diseases including ciliary dyskinesias, situs inversus, and retinitis pigmentosa.

22 Laterality defects such as situs inversus are not uncommonly encountered in humans,

23 rotein can fully invert the left-right axis (situs inversus), can randomize left-right asymmetries, o

24 fects in cilia structure or function such as situs inversus, cystic renal disease and retinal degener

25 acies, and three of them had either complete situs inversus, dextrocardia, or transposition of the gr

26 In situs inversus embryos there was a mirror image reversal

27 n A-deficient quail have a high incidence of situs inversus hearts and had a reversed calcium asymmet

28 Moreover, mutation of ENKUR causes situs inversus in humans.

29 embryos that failed to develop heterotaxy or situs inversus in response to misregulated ALK4 signalin

30 ircular beat pattern and also the absence of situs inversus in these patients.

31 ) and legless (lgl) produce LR inversion, or situs inversus, in half of live-born homozygotes.

32 of polycystin 2 and RP2 results in enhanced situs inversus, indicating that these two genes also reg

33 demonstrated to be anatomically reversed in situs inversus (inv/inv) mouse embryos; however, dHAND e

34 nia syndrome, which often includes abdominal situs inversus, is of particular concern in liver transp

35 atal respiratory symptoms (n = 57; 73%), and situs inversus (n = 43; 55%) are strong phenotypic marke

36 ation (situs ambiguus) or complete reversal (situs inversus) of normal organ position.

37 s heart looping, left side treatment induces situs inversus only at high RA concentrations.

38 eritoneal abdominal midline and left side in situs inversus or intestinal malrotation patients.

39 ryo having two left sides) nor in a complete situs inversus phenotype.

40 ck a functional inversin protein and exhibit situs inversus plus severe cystic changes in the kidney

41 ephronophthisis, hydrocephalus, polydactyly, situs inversus, retinal degeneration, and obesity.

42 eft-right axis formation, including visceral situs inversus, right pulmonary isomerism and a range of

43 mmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterota

44 exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized si

45 Situs inversus totalis occurs in approximately 50% of PC

46 Situs solitus (normal situs) and situs inversus totalis were identified in 46.0% and 47.7

47 ielded 25% with normal organ situs, 35% with situs inversus totalis, and 40% with heterotaxy.

48 disorder associated with ciliary defects and situs inversus totalis, the complete mirror image revers

49 teristic of heterotaxy, and 11 patients with situs inversus totalis.

50 tations that perturb L-R development, namely situs inversus viscerum (iv), in which assignment of L-R