ライフサイエンスコーパス: cone-rod dystrophy

1 2_P355del associated with autosomal dominant cone-rod dystrophy.

2 sis on a four generation British family with cone-rod dystrophy.

3 arried dominant alleles associated with cone/cone-rod dystrophy.

4 LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.

5 IQCB1-retinopathy is a severe early-onset cone-rod dystrophy.

6 y including maculopathy, cone dystrophy, and cone-rod dystrophy.

7 d bilateral microcornea, ectopic pupils, and cone-rod dystrophy.

8 rocornea, ectopia lentis, and early onset of cone-rod dystrophy.

9 ng ADAMTS18 in patients with microcornea and cone-rod dystrophy.

10 ntis, rhegmatogenous retinal detachment, and cone-rod dystrophy.

11 in all patients except patient 1, who showed cone-rod dystrophy.

12 esentation is that of an autosomal recessive cone-rod dystrophy.

13 s juvenile retinitis pigmentosa and dominant cone-rod dystrophy.

14 toreceptor cells in the retina, resulting in cone-rod dystrophy.

15 tural and functional tests consistent with a cone-rod dystrophy.

16 genital amaurosis, retinitis pigmentosa, and cone-rod dystrophy.

17 , we produced transgenic mice and observed a cone-rod dystrophy.

18 found in a 57-year-old woman with late-onset cone-rod dystrophy.

19 tGC-1 have been linked to autosomal dominant cone-rod dystrophy.

20 R838C) in three other families with dominant cone-rod dystrophy.

21 RDS gene, which is associated with dominant cone-rod dystrophy.

22 Canine cone-rod dystrophy 1 (cord1) has been previously mapped

23 Cone-rod dystrophy 1 (cord1) is a recessive condition th

24 gnosed with retinitis pigmentosa (19 [86%]), cone-rod dystrophy (2 [9%]), or isolated macular dystrop

25 RX are associated with the retinal diseases, cone-rod dystrophy-2 (adCRD2; refs 3, 4, 5), retinitis p

26 rx are associated with the retinal diseases, cone-rod dystrophy-2, retinitis pigmentosa, and Leber's

27 were identified: 66.7% of families with cone/cone-rod dystrophy, 22.2% with Leber congenital amaurosi

28 ed by retinitis pigmentosa in 14% (3/23) and cone-rod dystrophy (4%, 1/23).

29 could be utilized to reduce the severity of cone-rod dystrophy 6 pathology.

30 ion in RetGC1 that causes autosomal-dominant cone-rod dystrophy 6, not only impedes deceleration of R

31 's congenital amaurosis (LCA1), and dominant cone-rod dystrophy-6 (CORD6) affected RetGC1 activity an

32 hin the 18-cM interval of STGD3 but excludes cone-rod dystrophy 7 (CORD7; centromeric) and North Caro

33 Humans carrying the CORD7 (cone-rod dystrophy 7) mutation possess increased verbal

34 ne dystrophy (60%), macular dystrophy (20%), cone-rod dystrophy (9%), cone dystrophy (4%) and other p

35 presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related dystroph

36 nal degenerative disease, autosomal dominant cone rod dystrophy (adCORD).

37 ined the mechanism behind autosomal dominant cone-rod dystrophy (adCORD) caused by 12 base pair (bp)

38 variants in the D2 loop were associated with cone-rod dystrophies and poor visual prognosis, whereas

39 Clinically, 6 patients were diagnosed with cone-rod dystrophy and 13 with pattern dystrophy.

40 ation, and some forms of autosomal recessive cone-rod dystrophy and autosomal recessive retinitis pig

41 Patients with Stargardt disease or cone-rod dystrophy and disease-causing variants in the A

42 Patients with Stargardt disease or cone-rod dystrophy and known or suspected disease-causin

43 rative diseases, including two patients with cone-rod dystrophy and one with bilateral progressive ma

44 eneration of childhood onset) to adult onset cone-rod dystrophy and retinitis pigmentosa (an adult on

45 pathies, including Stargardt disease (STGD), cone-rod dystrophy and retinitis pigmentosa.

46 Most of these patients presented cone-rod dystrophy and some exhibited macular dystrophy

47 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of domin

48 -field ERGs in four adults revealed a severe cone-rod dystrophy and three children had extinguished E

49 box gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital ama

50 uding Stargardt disease, autosomal recessive cone rod dystrophy, and fundus flavimaculatus.

51 uding Stargardt disease, autosomal recessive cone rod dystrophy, and fundus flavimaculatus.

52 .8-68.3%; eight studies) in macular and cone/cone-rod dystrophies, and 47.6% (95% CI: 41.0-54.3%; fou

53 ng Stargardt disease, fundus flavimaculatus, cone-rod dystrophy, and age-related macular degeneration

54 clinically diagnosed with Stargardt disease, cone-rod dystrophy, and other ABCA4-associated phenotype

55 ABCA4 cause the related diseases, recessive cone-rod dystrophy, and recessive Stargardt macular dege

56 in EPG5 resulting in optic nerve atrophy and cone-rod dystrophy; and a rare de novo variant in COG4 c

57 pproximately 1:2400 individuals, followed by cone-rod dystrophy (approximately 1:14 000), Stargardt d

58 is pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however, the function of EYS

59 s pigmentosa (arRP), and autosomal recessive cone-rod dystrophy (arCRD).

60 nd mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss.

61 78.9% followed by Stargardt disease at 6.3%, cone-rod dystrophy at 2.0%, autosomal recessive bestroph

62 se 1, have been linked to autosomal dominant cone-rod dystrophy at the CORD6 locus.

63 All 4 demonstrated severe cone-rod dystrophy before 20 years of age and were legal

64 Progressive X-linked cone-rod dystrophy (COD1) is a retinal disease affecting

65 X-linked cone-rod dystrophy (COD1) is a retinal disease that prim

66 P), and 21 with autosomal dominant/recessive cone-rod dystrophies (CORD).

67 ntly been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber cong

68 g protein 1 (GCAP1) cause slowly progressing cone-rod dystrophy (CORD) in a dozen families worldwide.

69 A new form of cone-rod dystrophy (CORD) is described and the gene resp

70 rt a role for toll-like receptor 3 (TLR3) in cone-rod dystrophy (CORD) of mice lacking ATP-binding ca

71 one family with macular dystrophy, nine with cone-rod dystrophy (CORD), and three with retinitis pigm

72 igmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two with the related comp

73 somal dominant (AD) cone dystrophy (COD) and cone-rod dystrophy (CORD).

74 n EYS-RD: retinitis pigmentosa (RP; 85.94%), cone-rod dystrophy (CORD; 10.94%), and Leber congenital

75 ly confirmed RPGR mutations (36 rod-cone, 14 cone-rod dystrophy [CORD], contributing 357 microperimet

76 A form of canine cone-rod dystrophy (cord1) was originally associated wit

77 l dystrophies (retinitis pigmentosa RP64 and cone-rod dystrophy CORD16) but not BBS.

78 ave previously been associated with dominant cone-rod dystrophies (CORD6) and recessive forms of Lebe

79 This new localisation for autosomal dominant cone-rod dystrophy (CORD6) overlaps with regions attribu

80 d R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point

81 in has been implicated in autosomal dominant cone-rod dystrophy (CORD7).

82 rx maps to chromosome 19q13.3, the site of a cone rod dystrophy (CORDII).

83 te of a disease locus for autosomal dominant cone-rod dystrophy (CORDII).

84 The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI

85 ase (STGD), retinitis pigmentosa (RP19), and cone-rod dystrophy (CRD) and have also been found in a f

86 somal recessive (ar) cone dystrophy (CD) and cone-rod dystrophy (CRD) are currently unknown.

87 in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RA

88 Cone-rod dystrophy (CRD) is an inherited progressive ret

89 tosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harborin

90 Canine RPGRIP1-cone-rod dystrophy (CRD), a model for human inherited re

91 n RAB28 are causative of autosomal recessive cone-rod dystrophy (CRD), an inherited human blindness.

92 e with retinitis pigmentosa (RP), three with cone-rod dystrophy (CRD), and eight without retinal dise

93 In cone-rod dystrophy (CRD), the RPE cells were visualized

94 hy-bull's-eye maculopathy (CD-BEM, 40 eyes), cone-rod dystrophy (CRD, 12 eyes), Stargardt disease (SD

95 ion, an independent individual with X-linked cone-rod dystrophy demonstrated a 1-nt insertion (insA)

96 The dominant cone-rod dystrophy gene CORD6 has previously been mapped

97 Baf, an E80A mutation of CRX associated with cone-rod dystrophy has a higher than normal transactivat

98 sis of RP was established in 57 patients and cone-rod dystrophy in 1 patient.

99 in ROS-GC1 has been connected with autosomal cone-rod dystrophy in a British family.

100 ion at position 50 of human GCAP1 results in cone-rod dystrophy in a family carrying this mutation.

101 of which has been shown to cause late-onset cone-rod dystrophy in a patient and retinal degeneration

102 strategy to rescue any GCAP1-based dominant cone-rod dystrophy in human patients.

103 mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodom

104 RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans.

105 inical diagnoses included autosomal dominant cone-rod dystrophy in one family (E168 [delta1 bp] mutat

106 del that we developed, it was found that the cone-rod dystrophy involves altered photoreceptor gene e

107 )Ser in RetGC-1 found in human patients with cone-rod dystrophy is known to shift the Ca(2+) sensitiv

108 ith clinical diagnoses of autosomal dominant cone-rod dystrophy, late-onset dominant retinitis pigmen

109 age analysis excluded all the known cone and cone-rod dystrophy loci, except the chromosome 6p21.1 re

110 2 groups: central dysfunction (macular/cone/cone-rod dystrophy, "MCCRD group") and panretinal or per

111 8, associated with human autosomal recessive cone-rod dystrophy, negatively regulates EV levels in th

112 nitis pigmentosa 14 on chromosome 6p21.3 and cone-rod dystrophy on chromosome 19q13.1.

113 phy (Leber) and progressive diseases such as cone-rod dystrophy or retinitis pigmentosa, with a wide

114 ntly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retiniti

115 n showed an abolished electroretinogram or a cone-rod dystrophy pattern, no or minimal pigment deposi

116 One patient showed a cone-rod dystrophy pattern.

117 lar dystrophy (CHKB), bone abnormalities and cone-rod dystrophy (PCYT1A) and spastic paraplegia (PCYT

118 ne than rod responses were consistent with a cone-rod dystrophy phenotype.

119 milies and individuals with various cone and cone- rod dystrophy phenotypes.

120 the first animal model for P/rds-associated cone-rod dystrophy, R172W mice provide a valuable tool f

121 lar ataxia type 7 (SCA7) is characterized by cone-rod dystrophy retinal degeneration and is caused by

122 interference is a predominant factor in SCA7 cone-rod dystrophy retinal degeneration.

123 ystrophy, spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD), and isolated retinal dystr

124 , MKS1, OFD1, and AHI1/Jouberin proteins and cone-rod dystrophy syndrome genes, including UNC-119/HRG

125 (RIM1) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14.

126 osis type 1, which also maps to 17q11.2, and cone-rod dystrophy was examined for a deletion of UNC-11

127 an also cause dominant macular dystrophy and cone-rod dystrophy, which primarily affect cone photorec

128 rafish may cause rod-cone dystrophy, but not cone-rod dystrophy, while interfering with the phagocyto

129 le expressivity, and ranged from rod-cone to cone-rod dystrophy with photophobia.

130 howed retinal degeneration consistent with a cone-rod dystrophy, with atrophy tending to involve the

131 sed tubulin glutamylation led to progressive cone-rod dystrophy, with cones showing a more pronounced

132 use X-linked retinitis pigmentosa (XLRP) and cone-rod dystrophy (XL-CORD).

133 X-linked cone and cone-rod dystrophies (XLCOD and XLCORD) are a heterogene