ライフサイエンスコーパス: albinism

1 rized by platelet defects and oculocutaneous albinism.

2 1 (Tyrp1), a mouse model for oculocutaneous albinism.

3 nocyte function can result in oculocutaneous albinism.

4 nosis of ocular, rather than oculocutaneous, albinism.

5 stent with emmetropization being impaired in albinism.

6 tion disorders, including the major forms of albinism.

7 us that is a model for type 2 oculocutaneous albinism.

8 and skin, resulting in severe oculocutaneous albinism.

9 RAB27) resulting in immunodeficiency without albinism.

10 ogeneous diseases frequently associated with albinism.

11 at occurs in association with oculocutaneous albinism.

12 llelic mutations in RAB27A in the absence of albinism.

13 urse of retinal development in children with albinism.

14 This process is arrested prematurely in albinism.

15 result in the absence of pigmentation, i.e. albinism.

16 and lateral geniculate nuclei (LGN) in human albinism.

17 of 85% and specificity of 78% for detecting albinism.

18 rmalities and other phenotypical features of albinism.

19 otential for detecting iris abnormalities in albinism.

20 other phenotypical features associated with albinism.

21 isolated infantile nystagmus, 0.80 +/- 0.11; albinism, 0.80 +/- 0.11; aniridia, 0.87 +/- 0.16; and BO

22 in tyrosinase is the cause of oculocutaneous albinism 1.

23 In the milder oculocutaneous albinism 1B form in which mutant proteins retain residua

24 g different mutant alleles of oculocutaneous albinism 1B.

25 mmonest cause in the elderly patients, while albinism (24.4%) and optic atrophy (24.4%) were the comm

26 two had isolated infantile nystagmus, 21 had albinism, 7 had aniridia, and 7 had mild or moderate bil

27 Affected patients have oculocutaneous albinism, a bleeding diathesis, and sometimes develop gr

28 ive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, ce

29 expression of the transgene is influenced by albinism, a genetically mediated recessive trait that re

30 k syndrome (HPS) consists of ocu-locutaneous albinism, a platelet storage-pool deficiency, and ceroid

31 rder that is characterized by oculocutaneous albinism, a predisposition to mild bleeding caused by st

32 syndrome is characterized by oculocutaneous albinism, a storage-pool deficiency, and lysosomal accum

33 In albinism, affected individuals exhibit a lack or reducti

34 r layers across the fovea were elongating in albinism, albeit at a reduced rate, compared with the co

35 responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identi

36 essive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe

37 Patients with albinism also showed a mild visual deficit early in life

38 documented observations of high frequency of albinism among Native Americans, including the Hopi, Zun

39 We studied 12 patients with oculocutaneous albinism and 12 age-matched pigmented controls.

40 maximum reading speeds were 18.8% slower in albinism and 14.7% slower in idiopathic IN patients comp

41 Of these patients, 21 were diagnosed with albinism and 2 were diagnosed with PAX6 mutations.

42 We studied 44 children with a diagnosis of albinism and 223 control participants.

43 ve condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet

44 syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of

45 ive disorder characterized by oculocutaneous albinism and a storage pool deficiency due to an absence

46 red in Hispanic patients with oculocutaneous albinism and bleeding symptoms.

47 We focused on the trait of albinism and discovered that it is linked to Oca2, a kno

48 ach melanosomes, explaining the boy's severe albinism and establishing his diagnosis as HPS-9.

49 egenerated plants display very low levels of albinism and have normal fertility.

50 Links between albinism and immunity in patients have uncovered a numbe

51 no mutation in genes so far associated with albinism and immunodeficiency.

52 ponsible not only for rare diseases, such as albinism and piebaldism, but also for common phenotypic

53 , a human genetic condition characterized by albinism and prolonged bleeding (OMIM #203300).

54 erized by hypopigmentation or oculocutaneous albinism and severe immunologic deficiency with neutrope

55 nt -- were given a diagnosis on the basis of albinism and the absence of platelet dense bodies.

56 tagmus syndrome (INS) or INS associated with albinism and to compare their development with that of n

57 r, organ transplants, or hereditary disease (albinism and xeroderma pigmentosum), prior to the start

58 osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.

59 HPS2 patients present neutropenia, partial albinism, and impaired lysosomal vesicles formation in h

60 e rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screene

61 Reduction of mean acuity in albinism, aniridia, and BONH is due to the visual sensor

62 ic disorders such as anophthalmia, aniridia, albinism, anterior segment dysgenesis, Marfan syndrome,

63 om the Micos cave locality in 1970, in which albinism appeared over the past two decades.

64 Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which

65 eristics reminiscent of human oculocutaneous albinism, as well as iris and RPE thinning.

66 From these results we concluded that albinism, at least in part, is an ER retention disease.

67 fatal, autosomal recessive disorder in which albinism, bleeding and lysosomal storage are associated

68 organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from de

69 ome (HPS) is characterized by oculocutaneous albinism, bleeding diathesis, and other variable symptom

70 l recessive disorder in which oculocutaneous albinism, bleeding tendency and a ceroid-lipofuscin lyso

71 ive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal ceroid storag

72 l recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result

73 n-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from de

74 ch as congenital stationary night blindness, albinism, blue cone monochromatism, and achromatopsia.

75 HPS patients have oculocutaneous albinism, bruising, and bleeding.

76 in both pigmented controls and patients with albinism by using high-resolution structural magnetic re

77 again within a population, the phenotype of albinism can be achieved by two different genetic pathwa

78 Defects in melanosome function cause albinism, characterized by vision and pigmentation defic

79 The reductions in chiasmal diameters in the albinism compared with the control group can be attribut

80 n tyrosinase are the cause of oculocutaneous albinism, demonstrating the importance of the enzyme in

81 ns retain residual activity, the severity of albinism depends on the type of mutations expressed in t

82 center of the visual field may be reduced in albinism due to fewer RGCs representing the area where t

83 Mutations in tyrosinase lead to albinism due, at least in part, to aberrant retention of

84 vo abnormalities of the iris associated with albinism for the first time and show that PEL thickness

85 nal thickness was significantly decreased in albinism from a reduction of both inner (p<0.0001) and o

86 her frequencies of rare germline variants in albinism genes such as TYR, TYRP1, and OCA2 (P < 0.05).

87 trols (315.1 +/- 43.8 mum) compared with the albinism group (297.7 +/- 50.0 mum; P=0.044), and PEL wa

88 trols (379.3 +/- 44.0 mum) compared with the albinism group (342.5 +/- 52.6 mum; P>0.001), SAB layers

89 ntrols (64.1 +/- 11.7 mum) compared with the albinism group (44.5 +/- 13.9 mum; P<0.0001).

90 cal coherence tomography examinations in the albinism group and compared them with 558 control examin

91 reased with age in the control group, in the albinism group it initially decreased with age as a resu

92 In the albinism group, inner retinal layer migration from the f

93 Mendelian disorders of pigmentation such as albinism have been identified, but only one gene, the me

94 ism is caused by mutations in oculocutaneous albinism II (OCA2), a melanosome-specific transmembrane

95 ify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe t

96 re we have interrogated the genetic cause of albinism in a well phenotyped, hypomorphic albinism popu

97 The appearance of albinism in captive Micos cavefish, caused by the same l

98 n level studies to investigate the origin of albinism in captive-bred Micos cavefish.

99 OCA1 is the most common cause of albinism in European populations and is inherited throug

100 In the present study, we show that albinism in one Native American population, the Navajo,

101 hat these defects can occur independently of albinism in people with recessive mutations in the putat

102 dy focuses on the refractive implications of albinism in the context of emmetropization.

103 Aside from the albinism in the proband, his phenotype and that of his n

104 etion of the P gene, thus demonstrating that albinism in this population is OCA2.

105 7 gene in controlling neurite outgrowth, and albinism, in which recent models have investigated the p

106 associated clinical features associated with albinism, including hypopigmentation of the skin, hair,

107 Thus, the two cave populations evolved albinism independently, through similar mutational event

108 Albinism involves the mutation of one or more of the gen

109 Type I oculocutaneous albinism is an autosomal recessive disorder in which the

110 that the phenotypic spectrum associated with albinism is broad, making molecular analysis an importan

111 The most common form of albinism is caused by mutations in oculocutaneous albini

112 Occulocutaneous albinism is caused by mutations in the gene encoding the

113 Type I oculocutaneous albinism is caused by mutations in the tyrosinase struct

114 y screened for mutations in these genes when albinism is observed.

115 age of 4 years, when development arrests in albinism is uncertain.

116 ernally inherited chlorophyll deficiency, or albinism, is a standard marker in plant cytoplasmic gene

117 re form of OCA and also known as "rufous/red albinism," is associated with mutations in TYRP1 (encodi

118 ical region for two distinct forms of ocular albinism, it is possible that SHROOM2 mutations may be a

119 cutaneous albinism not associated with known albinism loci.

120 ed retinitis pigmentosa, and X-linked ocular albinism may have signs of Lyonization on ocular examina

121 racts, photoreceptor defects, oculocutaneous albinism, microphthalmia, and colobomas.

122 with an associated sensory deficit: INS and albinism (n = 71), bilateral optic nerve hypoplasia (ONH

123 ps of children with INS (idiopathic, n = 22; albinism, n = 27) were studied.

124 Two diagnostic groups (idiopathic, n = 106; albinism, n = 95) were evaluated and compared with a ref

125 We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmen

126 gene for some cases of human oculocutaneous albinism not associated with known albinism loci.

127 Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss

128 Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynt

129 orth American and Australian X-linked ocular albinism (OA) probands, including five with additional,

130 from those genetic disorders-such as ocular albinism (OA), congenital stationary night blindness (CS

131 racterized by WS2 in conjunction with ocular albinism (OA).

132 tients with foveal hypoplasia (7 with ocular albinism [OA], 5 with oculocutaneous albinism [OCA], and

133 X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized

134 Oculocutaneous albinism (OCA) affects approximately 1/20,000 people wor

135 Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited di

136 Various types of oculocutaneous albinism (OCA) are associated with reduced pigmentation

137 Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder.

138 Oculocutaneous albinism (OCA) is a genetically heterogeneous group of d

139 Oculocutaneous albinism (OCA) is a group of genetic disorders character

140 Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condi

141 Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyr

142 s group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentat

143 ted a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding diathesis, neutropenia, and his

144 inically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1

145 ocular albinism [OA], 5 with oculocutaneous albinism [OCA], and 1 with aniridia) at a tertiary ophth

146 rfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively.

147 se (Tyr) pigmentation reporter to rescue the albinism of the genetic background used in the mutagenes

148 No spasticity, albinism, or hematological symptoms were reported.

149 Albinism patients exhibited significantly smaller diamet

150 hypoplasia (predicting clinical diagnosis of albinism, PAX6 mutations, or isolated foveal hypoplasia)

151 issing heritability in some hypomorphic OCA1 albinism phenotypes.

152 e the iris, notably including oculocutaneous albinism, pigment dispersion syndrome, and exfoliation s

153 nodermatosis characterized by oculocutaneous albinism, platelet dysfunction, and in some patients, pu

154 f albinism in a well phenotyped, hypomorphic albinism population by sequencing a broad gene panel and

155 ous disorder characterized by oculocutaneous albinism, prolonged bleeding and pulmonary fibrosis due

156 mice and humans, which causes oculocutaneous albinism, prolonged bleeding, and in some cases, pulmona

157 platelet granules, and lysosomes) result in albinism, prolonged bleeding, and lysosome abnormalities

158 correlated strongly to near VA (r(2) = 0.74 albinism, r(2) = 0.55 idiopathic), but was better than n

159 Phenotypic features of albinism, such as skin and hair pigmentation, BCVA, and

160 eurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10.

161 erlie an inherited disorder characterized by albinism, the Hermansky-Pudlak Syndrome, and are associa

162 pathway and only co-occur in connection with albinism; to date, they have only been associated with d

163 Ocular albinism type 1 (OA1) is an X-linked human genetic disor

164 Ocular albinism type 1 (OA1) is characterized by abnormalities

165 Developmental eye defects in X-linked ocular albinism type 1 are caused by G-protein coupled receptor

166 Oculocutaneous albinism type 1TS is caused by mutations that render the

167 ible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in th

168 Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, e

169 g P, which is associated with oculocutaneous albinism type 2.

170 popigmentary disease known as oculocutaneous albinism type 3 and further impairs melanin production.

171 protein Xenopus laevis-like) and OA1 (Ocular albinism type I), two genes that are located on the huma

172 opment and for devising therapies for ocular albinism type I.

173 s of a loss-of-function ocular and cutaneous albinism type II (Oca2) allele previously identified in

174 tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by re

175 Albinism was one of the first genetic diseases to be not

176 mic tract (RHT) were related specifically to albinism, we analyzed the distribution and trajectory of

177 elated macular degeneration (ARMD); 9.8% had albinism; while only 1% had diabetic retinopathy.

178 report a patient with type IB oculocutaneous albinism who is a compound heterozygote for TYR allele c

179 as not detected in 34 other individuals with albinism who listed other Native American origins, nor h

180 igital type 1 and contiguous syndrome ocular albinism with late onset sensorineural deafness syndrome

181 through the cosegregation of oculocutaneous albinism with psychosis in several pedigrees.

182 ey of mutations causing human oculocutaneous albinism yielded 257 missense mutations, 82% of which ar