ライフサイエンスコーパス: aniridia

1 t to NLP outcomes among eyes with congenital aniridia.

2 eses, devices designed to reduce symptoms of aniridia.

3 atients had clinical diagnosis of congenital aniridia.

4 milies with a documented familial history of aniridia.

5 eal replacement for infectious keratitis and aniridia.

6 ociated with microphthalmia, anophthalmia or aniridia.

7 ly cause less severe abnormalities than does aniridia.

8 PAX6 transcription unit in two families with aniridia.

9 y underlie phenotypes distinct from textbook aniridia.

10 ight into the role of mutant PAX6 in causing aniridia.

11 ital process that appears to be defective in aniridia.

12 s, and its mutation is responsible for human aniridia.

13 ation, which we identified in a patient with aniridia.

14 mus, 0.80 +/- 0.11; albinism, 0.80 +/- 0.11; aniridia, 0.87 +/- 0.16; and BONH, 0.79 +/- 0.18.

15 ogic genetic disorders such as anophthalmia, aniridia, albinism, anterior segment dysgenesis, Marfan

16 jury eyes, whereas the worst prognosis is in aniridia, although the latter has limited visual potenti

17 erved PAX6 homeobox gene are associated with aniridia, an inherited human disorder affecting several

18 cult to identify in the context of traumatic aniridia and iris prosthesis implantation due to other p

19 of Vhl in the RPE results in RPE apoptosis, aniridia and microphthalmia.

20 infantile nystagmus, 21 had albinism, 7 had aniridia, and 7 had mild or moderate bilateral optic ner

21 Reduction of mean acuity in albinism, aniridia, and BONH is due to the visual sensory defect a

22 port the haploid-insufficiency hypothesis of aniridia, and the hypothesis that R26G is a hypomorphic

23 surgery, iridocorneal endothelial syndrome, aniridia, aphakia, and anterior chamber intraocular lens

24 postpenetrating keratoplasty, ICE syndrome, aniridia, aphakia, complex anterior chambers with anteri

25 1 and Pax6+/- mice and Pax6+/- patients with aniridia are deficient in sflt-1, and recombinant sflt-1

26 PAX6 function was first identified through aniridia-associated null mutations.

27 h use of a panel of cosmids encompassing the aniridia-associated PAX6 gene, the Wilms tumor predispos

28 th oculocutaneous albinism [OCA], and 1 with aniridia) at a tertiary ophthalmology center with access

29 ro has been used include herpetic keratitis, aniridia, autoimmune ocular disorders, and pediatric cor

30 scopic de novo deletions of 11p13 that cause aniridia but are located >11 kb from the 3' end of PAX6.

31 mal limbal palisade morphology was absent in aniridia but present in controls.

32 Nine of the 16 eyes with aniridia came from 5 families with a documented familial

33 al epithelial region were present in 5 of 11 aniridia cases with an otherwise clear cornea.

34 However, aniridia cases with chromosomal rearrangements far downs

35 Sub-basal nerves were extremely dense in 3 aniridia cases, and a prominent whorl pattern of nerves

36 d reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency c

37 Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to

38 spie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ata

39 Deletions of one PAX6 allele result in aniridia characterized by severe ocular phenotypes.

40 nts who presented with bilateral LSCD due to aniridia, chemical/thermal burn, cicatrizing pemphigoid,

41 Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare domina

42 a deletion including the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retard

43 AGR syndrome (the clinical triad of aniridia, genitourinary anomalies, and mental retardatio

44 subgroup of WAGR syndrome for Wilm's tumor, aniridia, genitourinary anomalies, and mental retardatio

45 BDNF (11p14.1), result in the Wilms' tumor, aniridia, genitourinary anomalies, and mental retardatio

46 Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardatio

47 ardation component of the WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation) s

48 yndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retard

49 us null mutations in the PAX6 gene result in aniridia in humans and a distinct small eye syndrome in

50 unction result in eye malformations known as Aniridia in humans and Small eye syndrome in mice.

51 ly lethal; heterozygous null mutations cause aniridia in humans and the Small eye (Sey) phenotype in

52 ne in eye development with mutations causing aniridia in humans.

53 opment and that Paxb mutations can result in aniridia in humans.

54 s associated with both sporadic and familial aniridia in this cohort.

55 ment of complex or severe cases of traumatic aniridia in which surgical repair is difficult may consi

56 Aniridia is a condition defined by total or partial loss

57 Aniridia is a congenital and progressive panocular condi

58 Aniridia is a panocular disorder that severely affects v

59 Aniridia is a panocular human eye malformation caused by

60 The congenital eye malformation aniridia is caused by haploinsufficiency of the developm

61 is caused by mutations in PITX2 or FOXC1 and aniridia is caused by PAX6 mutations.

62 ele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency.

63 Development of aniridia is linked with nonsense mutations that result i

64 Patients with Wilms' tumor, aniridia, major genitourinary malformations, and mental

65 Hif1a in the RPE rescues the RPE morphology, aniridia, microphthalmia and anterior vasoproliferation,

66 rmalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome.

67 Patients with Wilms' tumor and aniridia or genitourinary abnormalities should be follow

68 iring KPro explantation were associated with aniridia (P = .0038), sterile keratolysis (P < .001), re

69 The spectrum of PAX6 mutations in aniridia patients is highly biased, with 92% of all repo

70 Upon examining the DNA samples of aniridia patients, we identified three missense mutation

71 mon even though they are hardly ever seen in aniridia patients.

72 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis,

73 6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis

74 6 gene produce various phenotypes, including aniridia, Peters' anomaly, foveal hypoplasia, autosomal

75 nd two in association with more recognizable aniridia phenotypes.

76 Deletion of Lgr4 in mouse led to aniridia, polycystic kidney disease, genitourinary anoma

77 Seventy-seven patients with aniridia, referred for cytogenetic analysis predominantl

78 Degeneration of the corneal surface in aniridia-related keratopathy relates to both a deficienc

79 the C-terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DN

80 Patients with aniridia seem to be at increased risk.

81 ed, the high rate of RF in patients with the aniridia syndrome challenges the view that nephropathy i

82 and 10 of 46 patients with the Wilms' tumor aniridia syndrome developed RF.

83 view of 9 eyes in 9 patients with congenital aniridia that developed aniridic fibrosis syndrome.

84 e more common dominant and sporadic forms of aniridia, there has been no significant association with

85 Here, we used a mouse model of aniridia to test the hypothesis that manipulation of Pax

86 Children with the rare Wilms tumor (WT)-aniridia (WAGR) syndrome have not had systematic evaluat

87 The RR of developing NLP among eyes with aniridia was 3.04 (P = .01).

88 Aniridia was also an independent risk factor for RPM dev

89 Five patients with OCA and 1 with aniridia were also included.

90 , and the RR of NLP outcomes among eyes with aniridia were determined.

91 old, male construction worker with traumatic aniridia who experienced chronic, recurrent low-grade in

92 for aniridic fibrosis syndrome in congenital aniridia with early surgical intervention is recommended

93 ls were present in the central epithelium in aniridia, with significantly increased density relative