ライフサイエンスコーパス: albinism

1 findings in 12 children with presumed ocular albinism.

2 nostic yield in children with partial/ocular albinism.

3 rized by platelet defects and oculocutaneous albinism.

4 1 (Tyrp1), a mouse model for oculocutaneous albinism.

5 nocyte function can result in oculocutaneous albinism.

6 nosis of ocular, rather than oculocutaneous, albinism.

7 aestivation, evisceration, regeneration and albinism.

8 stent with emmetropization being impaired in albinism.

9 tion disorders, including the major forms of albinism.

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

11 and skin, resulting in severe oculocutaneous albinism.

12 evels of healthy individuals and people with albinism.

13 inform genetic counselling in families with albinism.

14 wo Pore Channel 2 (TPC2) from a patient with albinism.

15 e without HLH activity, based on siblings or albinism.

16 t that underlies an unusual dominant type of albinism.

17 ould potentially optimize visual function in albinism.

18 RAB27) resulting in immunodeficiency without albinism.

19 sses lead to diseases such as oculocutaneous albinism.

20 ogeneous diseases frequently associated with albinism.

21 at occurs in association with oculocutaneous albinism.

22 llelic mutations in RAB27A in the absence of albinism.

23 urse of retinal development in children with albinism.

24 This process is arrested prematurely in albinism.

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

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

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

28 rmalities and other phenotypical features of albinism.

29 otential for detecting iris abnormalities in albinism.

30 other phenotypical features associated with albinism.

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

32 in tyrosinase is the cause of oculocutaneous albinism 1.

33 ), retinal dystrophies (RET; 235 genes), and albinism (15 genes), as well as additional genes implica

34 o patients with infantile nystagmus (19 with albinism, 17 with idiopathic infantile nystagmus, and 6

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

36 g different mutant alleles of oculocutaneous albinism 1B.

37 d other species, mutations in oculocutaneous albinism 2 (oca2) cause albinism.(7-12) Surface fish wit

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

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

40 ns in oculocutaneous albinism 2 (oca2) cause albinism.(7-12) Surface fish with mutations in oca2 disp

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

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

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

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

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

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

47 In albinism, aberrations in the ipsi-/contralateral retinal

48 In albinism, affected individuals exhibit a lack or reducti

49 t and from a cohort of 1313 individuals with albinism aiming to gain insights into the genetic archit

50 g retinal development in young children with albinism, albeit at a reduced rate and magnitude compare

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

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

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

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

55 evidence of ongoing foveal ORL elongation in albinism, although reduced in amplitude compared with co

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

57 Here, we use albinism, an archetypal rare condition associated with h

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

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

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

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

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

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

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

65 cipant had GPR143-associated X-linked ocular albinism and another proband had biallelic variants in S

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

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

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

69 s (IN) may result from aetiologies including albinism and FRMD7 mutations.

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

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

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

73 identify the genetic bases of traits such as albinism and insulin resistance and has helped to better

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

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

76 e fish with mutations in oca2 displayed both albinism and reduced sleep.

77 rare disease characterized by oculocutaneous albinism and retinal dysfunction.

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

79 Individuals who have ocular features of albinism and skin pigmentation in keeping with their fam

80 of oca2 underlies the adaptive evolution of albinism and sleep loss.

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

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

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

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

85 g dorsal fin loss, long-tail, telescope-eye, albinism, and heart-shaped tail.

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

87 alongside a cohort of 1120 individuals with albinism, and investigate the effect of dual heterozygos

88 l electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities

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

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

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

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

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

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

95 1], modulates the penetrance of a prevalent, albinism-associated missense change, TYR c.1205G>A (p.Ar

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

97 on major-effect genes (such as those causing albinism, barring, and the like), rather than the smalle

98 RL migration was taking place after birth in albinism, before arresting prematurely at 40 months post

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

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

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

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

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

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

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

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

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

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

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

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

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

112 icantly thicker central macular thickness in albinism (Delta = 83.8 +/- 6.1, P < .0001 at 69 months P

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

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

115 ated with a high probability of receiving an albinism diagnosis (OR>82).

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

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

118 etinal thickness (traits that are considered albinism endophenotypes).

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

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

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

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

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

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

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

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

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

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

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

130 are located in the OCA2 gene (Oculocutaneous Albinism II), a new locus never detected for significant

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

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

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

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

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

136 loration in animal models and oculocutaneous albinism in humans.

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

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

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

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

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

142 7 gene in controlling neurite outgrowth, and albinism, in which recent models have investigated the p

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

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

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

146 Albinism is a group of inherited disorders mainly affect

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

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

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

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

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

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

153 the probability of receiving a diagnosis of albinism is significantly increased (odds ratio 12.8; 95

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

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

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

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

158 cutaneous albinism not associated with known albinism loci.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

176 Oculocutaneous albinism (OCA) is a genetically heterogeneous condition

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

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

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

180 Oculocutaneous albinism (OCA) is a rare disorder of pigment production.

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

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

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

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

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

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

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

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

189 Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of

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

191 Albinism patients exhibited significantly smaller diamet

192 owards developing an effective treatment for albinism patients.

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

194 ntary, or oculocutaneous conditions, such as albinism, phakomatoses, or other multi-system syndromes.

195 issing heritability in some hypomorphic OCA1 albinism phenotypes.

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

197 syndrome is characterized by the presence of albinism, platelet dysfunction and pulmonary fibrosis.

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

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

200 iagnosed as PAX6-related phenotype or ocular albinism prior to NGS.

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

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

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

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

205 osity for the combination of two established albinism-related variants: TYR:c.1205 G > A (p.Arg402Gln

206 or as part of multisystem disorders such as albinism, significant visual disorders or neurological d

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

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

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

210 of the PKS gene at fertilization resulted in albinism throughout all life stages and throughout all c

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

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

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

214 Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorde

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

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

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

218 Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest becau

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

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

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

222 SLC45A2 mutations cause oculocutaneous albinism type 4 (OCA4) and polymorphisms are associated

223 Mutations in C10orf11 (oculocutaneous albinism type 7 [OCA7]) cause OCA, a disorder that prese

224 RMDA mutations, causative for oculocutaneous albinism type 7, a hypopigmentation disorder accompanied

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

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

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

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

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

230 A clinical subpanel of genes for nystagmus/albinism was utilised and likely causal variants were pr

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

232 , a gene whose mutations are associated with albinism, we described the chromatin structure in cells

233 Thirty-six children with albinism were recruited.

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

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

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

237 L-tyrosine is a recognized biomarker of albinism, whose endogenous level in human bodies is dire

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

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

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