ライフサイエンスコーパス: achromatopsia

1 or vision following cortical damage (central achromatopsia).

2 iption factor 6 (ATF6) as a genetic cause of achromatopsia.

3 tudied, less is known of young children with achromatopsia.

4 tions in CNGA3 in 2 patients with incomplete achromatopsia.

5 ith full-field electroretinography-confirmed achromatopsia.

6 macular architecture in young children with achromatopsia.

7 as atypical (category 2) and diagnosed with achromatopsia.

8 CNGB3 account for >70% of all known cases of achromatopsia.

9 gene account for >50% of all known cases of achromatopsia.

10 homologous mouse model for PDE6C associated achromatopsia.

11 diesterase as a cause of autosomal recessive achromatopsia.

12 one accounting for 50% of all known cases of achromatopsia.

13 acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia.

14 esults in impaired cone function manifesting achromatopsia.

15 same location as human GNAT2, known to cause achromatopsia.

16 f genes of X-linked idiopathic nystagmus and achromatopsia.

17 ess, albinism, blue cone monochromatism, and achromatopsia.

18 3 alone account for 50% of reported cases of achromatopsia.

19 performed in three Pingelapese kindreds with achromatopsia.

20 Molecular analysis of achromatopsia 2 mutations may be useful in evaluating po

21 imics the all cone foveal structure of human achromatopsia 2 with CNGA3 mutations.

22 Achromatopsia 2, an inherited retinal disorder resulting

23 ; (2) atypical foveal hypoplasia (predicting achromatopsia); (3) other foveal changes (corresponding

24 f retinal function following therapy renders achromatopsia a very attractive candidate for gene thera

25 vea of 30 healthy controls, 10 patients with achromatopsia (A), and six with cone dystrophy (CD) were

26 yclic nucleotide-gated channels that produce achromatopsia, a common form of severe color blindness.

27 It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disor

28 hotoreceptor CNG channels is associated with achromatopsia, a human autosomal inherited loss of cone

29 and day vision in two canine models of CNGB3 achromatopsia, a neuronal channelopathy that is the most

30 Achromatopsia (ACHM) is a congenital, autosomal recessiv

31 Achromatopsia (ACHM) is an autosomal recessive disorder

32 e is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characteriz

33 Comparative case series of 9 patients with achromatopsia and 9 age-matched control participants at

34 subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophies.

35 utation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 p

36 velopment, pathophysiology, and treatment of achromatopsia and other cone degenerations.

37 ical trials of cone-directed gene therapy in achromatopsia and other cone-specific disorders.

38 in the channel subunits are associated with achromatopsia and progressive cone dystrophy in humans.

39 tations in both subunits are associated with achromatopsia and progressive cone dystrophy, with mutat

40 d channel B subunit-deficient mice (moderate achromatopsia) and guanylate cyclase 2e-deficient mice (

41 To obtain insights into the genetic basis of achromatopsia, as well as into the genetic history of th

42 e, we comprehensively tested the function of achromatopsia-associated ATF6 mutations and found that t

43 subunits with hCNGB3 subunits containing an achromatopsia-associated mutation in the S6 transmembran

44 describe the functional consequences of two achromatopsia-associated mutations in human CNGB3 (hCNGB

45 We evaluated 10 patients with achromatopsia by means of best-corrected visual acuity (

46 in a Cpfl1 mouse with Pde6c defect model of achromatopsia, compared with their respective untreated

47 sociated with human cone diseases, including achromatopsia, cone dystrophies, and early onset macular

48 In our cohort, patients with achromatopsia demonstrated age-dependent changes in FAF,

49 While older children and adults with achromatopsia have been studied, less is known of young

50 coding the CNGB3 subunit have been linked to achromatopsia in humans.

51 hannelopathy that is the most common form of achromatopsia in man.

52 tinal development underlies the pathology of achromatopsia in patients with ATF6 mutations.

53 ATF6 mutations in patients with achromatopsia include missense, nonsense, splice site, a

54 To categorize achromatopsia into clinically identifiable stages using

55 Complete achromatopsia is a genetic defect resulting in cone visi

56 Evidence is mounting that achromatopsia is a progressive retinal degeneration, and

57 Complete achromatopsia is a rare, autosomal recessive disorder ch

58 Achromatopsia is an autosomal recessive disease of the r

59 Achromatopsia is an autosomal recessive disorder charact

60 Inherited as an autosomal recessive trait, achromatopsia is rare in the general population (1:20,00

61 ependent frameshift deletions establish that achromatopsia is the null phenotype of CNGB3.

62 Here we narrow the achromatopsia locus to 1.4 cM and show that Pingelapese

63 e individual members of the kindreds, and an achromatopsia locus was identified on 8q21-q22.

64 homology between the cd locus and the human achromatopsia locus, ACHM3, at 8q21-22.

65 Thus, achromatopsia may arise from a disturbance of cone CNG c

66 esia, who have a high incidence of recessive achromatopsia (MIM 262300).

67 Achromatopsia often demonstrates hyperautofluorescence s

68 Achromatopsia, or rod monochromatism, was first mapped t

69 Achromatopsia, or total color blindness (also referred t

70 Cones degenerate in achromatopsia patients and in CNGA3(-/-) and CNGB3(-/-)

71 mode for safely transducing foveal cones in achromatopsia patients and in other human retinal diseas

72 ia locus to 1.4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a h

73 udy, the primary cone photoreceptor disorder achromatopsia served as the ideal translational model to

74 ptor structure and function in patients with achromatopsia should be useful in guiding selection of p

75 Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis.

76 Linkage of achromatopsia to chromosome 2 is an essential first step

77 ction reported to date in an animal model of achromatopsia using a human gene construct, which has th

78 The mean (SD) age of the patients with achromatopsia was 4.2 (2.4) years, and the mean (SD) age

79 Achromatopsia was categorized into 5 stages on spectral-

80 A candidate gene for achromatopsia was excluded from this disease interval by

81 of the macula and fovea in the patients with achromatopsia were 14% and 17% thinner than in the contr

82 function loss type 1 mice (severe recessive achromatopsia) were used to determine whether suppressin

83 lder than reported in older individuals with achromatopsia, which suggests the need for early therape

84 We studied two patients with cerebral achromatopsia, who lack conscious colour perception but

85 This mouse model of achromatopsia will be useful in the study of the develop

86 improved in Rpe65(-/-) and Cpfl1 (a model of achromatopsia with Pde6c defect) mice with Thrb2 deletio