ライフサイエンスコーパス: pigmentary

1 cuity loss included foveal scarring (44.3%), pigmentary abnormalities (27.9%), and foveal GA (11.5%).

2 To comprehend the role of pigmentary abnormalities (PA) and GA in AMD, the authors

3 5% confidence interval (CI): 1.02, 1.14) and pigmentary abnormalities (RR = 1.09, 95% CI: 1.04, 1.14)

4 er, being a current smoker, as well as focal pigmentary abnormalities and large drusen (>125 mum) wer

5 gression to late-stage AMD, similar to focal pigmentary abnormalities and large drusen.

6 at CFH may play a role in the development of pigmentary abnormalities and may modify the progression

7 lesions of larger drusen (>125 microns) and pigmentary abnormalities and the incidence of any ARM we

8 in the nasal and inferior quadrants, whereas pigmentary abnormalities associated with age-related mac

9 Persons with large drusen or with pigmentary abnormalities associated with at least medium

10 of age; vessel attenuation, RPE atrophy and pigmentary abnormalities at 14 months, which progressed

11 We report a case study on models for retinal pigmentary abnormalities in the Beaver Dam Eye Study.

12 amination of the 11 eyes revealed drusen and pigmentary abnormalities in the central macula and no ev

13 Ciliary body cysts and retinal pigmentary abnormalities may also be markers of NF1.

14 sence of any size drusen and the presence of pigmentary abnormalities or by the presence of large-siz

15 Persons with no visible drusen or pigmentary abnormalities should be considered to have no

16 medium drusen (>/= 63-<125 mum), but without pigmentary abnormalities thought to be related to AMD, s

17 in eyes with both medium drusen and retinal pigmentary abnormalities was 4-fold higher than that in

18 l, large drusen, soft indistinct drusen, and pigmentary abnormalities were more likely to develop in

19 the superior or temporal quadrants, whereas pigmentary abnormalities were most likely to occur in th

20 n from medium size drusen to large drusen or pigmentary abnormalities within the central 1500-microm

21 ermediate drusen, extensive small drusen, or pigmentary abnormalities), or group 3 (large drusen or e

22 was related to ARM (specifically to retinal pigmentary abnormalities), whereas total carbohydrate in

23 macular regions (extramacular drusen score), pigmentary abnormalities, and disease staging were also

24 ardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics inc

25 fam(EKO) mice exhibited severe HF dystrophy, pigmentary abnormalities, and telogen-like condensed der

26 ome typically manifests with congenital iris pigmentary abnormalities, but careful inspection can rev

27 gment dystrophy and in tvrm5 mice, including pigmentary abnormalities, focal thickening and elevated

28 n in the diet were related to lower odds for pigmentary abnormalities, one sign of early ARM (odds ra

29 The development of foveal scar, pigmentary abnormalities, or GA contributed to most of t

30 acular degeneration, any type of drusen with pigmentary abnormalities, or soft indistinct drusen with

31 ho usually do not have conspicuous drusen or pigmentary abnormalities.

32 drusen and between zinc and the incidence of pigmentary abnormalities.

33 vioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities.

34 ection can reveal additional posterior uveal pigmentary abnormalities.

35 rmalities, or soft indistinct drusen without pigmentary abnormalities.

36 tinct/reticular drusen or coexisting retinal pigmentary abnormality and soft distinct drusen in eyes

37 difficult include the presence of drusen and pigmentary alteration, a fundus in which choroidal vesse

38 g with drusen (particularly soft drusen) and pigmentary alterations in the macular region.

39 s could drive complex immune, epidermal, and pigmentary alterations.

40 racteristics, and their association with any pigmentary alterations.

41 ck to skin features, providing insights into pigmentary and auditory features.

42 icate that MC1R protects by a combination of pigmentary and non-pigmentary effects in vivo and that w

43 and potency of the response to alpha-MSH in pigmentary and nonpigmentary cells suggest this to be a

44 and glutathione peroxidase (GPx) activity in pigmentary and nonpigmentary cells.

45 haracterized by deafness in association with pigmentary anomalies and various defects of neural crest

46 10 alleles in mice exhibit aganglionosis and pigmentary anomalies typical of a subset of HSCR patient

47 B6] exhibit highly variable craniofacial and pigmentary anomalies.

48 lanocyte stimulating hormone (alpha-MSH) has pigmentary, anti-inflammatory, antipyretic, and general

49 nation of lymph and glandular emission, with pigmentary cell filtering in the skin.

50 l patients without grossly visible drusen or pigmentary change (n = 15; age range, 60-95 years).

51 proteins as the tumors become amelanotic, a pigmentary change associated with ongoing malignant prog

52 Senile reticular pigmentary change was the predominant peripheral change

53 fundus appearance was graded for drusen and pigmentary change, using stereo color photographs.

54 the presence of nGA included the presence of pigmentary changes (odds ratio [OR], 16.84; 95% confiden

55 o was legally blind, had peripheral nummular pigmentary changes (stage 4).

56 Finally, 1 eye demonstrated peripheral pigmentary changes and clustered atrophic lesions resemb

57 Both drusen of 125 mum or more and pigmentary changes at baseline were significant risk fac

58 Pigmentary changes at the level of the RPE occur early i

59 Examination of pigmentary changes by spectrophotometry revealed that th

60 cence was seen in 70.8% of eyes, and new RPE pigmentary changes developed in 56.2% of eyes.

61 Fundus examination revealed macular pigmentary changes in all 7 patients, corresponding to a

62 .9% of participants with drusen >125 mum and pigmentary changes in both eyes.

63 greatly enhance our appreciation of dynamic pigmentary changes in human or animal skin over time and

64 ere was a 60% increased detection of retinal pigmentary changes in surgical eyes.

65 pplicability of RCM to detecting UVR-induced pigmentary changes in this model.

66 e analysis, it proposes a hypothesis for the pigmentary changes in this rare autosomal recessive EBS

67 ndings consistent with ochronosis, including pigmentary changes of the ear and mild degenerative dise

68 ts suggest that PG mediate post-inflammatory pigmentary changes through modulation of melanocyte dend

69 the blind spot), ocular findings (paucity of pigmentary changes with no sign of vitreous inflammation

70 , 68% had drusen of 125 mum or more, 36% had pigmentary changes, 10% had both drusen of 125 mum or mo

71 , 10% had both drusen of 125 mum or more and pigmentary changes, and 17% had only RPD in their fellow

72 es, reticular pseudodrusen, senile reticular pigmentary changes, cobblestone degeneration, and FAF ab

73 showed dilated and tortuous retinal vessels, pigmentary changes, incomplete vascularization of periph

74 s also were graded for AMD features (drusen, pigmentary changes, late AMD) to generate person-based A

75 ith selective Ranbp2 ablation in RPE develop pigmentary changes, syncytia, hypoplasia, age-dependent

76 tation and discusses the pathogenesis of the pigmentary changes.

77 progression to GA, in addition to drusen and pigmentary changes.

78 ities, and the remainder (29%) showing minor pigmentary changes.

79 nding to a fair response on average (26%-50% pigmentary clearance).

80 le regulatory coordination of structural and pigmentary coloration.

81 l]) melanocytosis is a congenital periocular pigmentary condition that can lead to the development of

82 Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities

83 amptodactyly, and other digital deformities; pigmentary defects on the face and scalp; and multiple f

84 cription factor SOX10 is associated with the pigmentary deficiencies of Waardenburg syndrome (WS) and

85 terised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and dev

86 ral retina, accompanied by bone spicule-like pigmentary deposits and a reduced or absent electroretin

87 scribe the development of diffuse preretinal pigmentary deposits in 12 eyes after surgery for complic

88 -1), an autosomal recessive disorder causing pigmentary dilution, visual disturbances, bleeding diath

89 abnormalities has been detected in patterned pigmentary disease.

90 at interest pharmaceutically (as therapy for pigmentary diseases) and cosmeceutically (e.g., to desig

91 their functions are associated with various pigmentary diseases; however, many remain to be identifi

92 stigated the etiology of X-linked reticulate pigmentary disorder (XLPDR), a primary immunodeficiency

93 Vitiligo, an acquired pigmentary disorder of unknown origin, is the most frequ

94 The deafness-pigmentary disorder Waardenburg Syndrome Type 2 is cause

95 ow the development of novel therapeutics for pigmentary disorders and bring new insights into the imm

96 Pigmentary disorders are a common finding in primary car

97 Multiple related deafness-pigmentary disorders result from mutations in genes that

98 lerosis and neurofibromatosis type 1 are two pigmentary disorders that have had many changes in their

99 cations on the management of photoaggravated pigmentary disorders, the proper use of sunscreens, and

100 lies the pathophysiology of neurological and pigmentary disorders.

101 lanocyte survival and manifestations of skin pigmentary disorders.

102 the posterior iris that occurs in eyes with pigmentary dispersion syndrome.

103 were composed of IOL decentration and tilt, pigmentary dispersion within the anterior segment and on

104 were composed of IOL decentration and tilt, pigmentary dispersion within the anterior segment and on

105 s, iris thinning and atrophy, synechiae, and pigmentary dispersion within the trabecular meshwork.

106 residual signs, adverse reactions, including pigmentary disturbance and skin atrophy, complications s

107 ypically seen in adults, 4 patients had mild pigmentary disturbance or white dots along the arcades,

108 expression levels and predominantly involved pigmentary disturbances of the abdomen, hindpaws, and ta

109 clude the grossly visible macular drusen and pigmentary disturbances typical of age-related macular d

110 ors) with grossly visible macular drusen and pigmentary disturbances were either wholemounted for pho

111 thway and reveal how coat-color patterns and pigmentary diversity have been shaped by recent selectio

112 ocortin 1 receptor (Mc1r) gene contribute to pigmentary diversity in natural populations of fish, bir

113 tects by a combination of pigmentary and non-pigmentary effects in vivo and that when MC1R function i

114 e that a functional Mc1r is required for the pigmentary effects of Agouti, and suggest that Agouti pr

115 In particular, it remains unclear whether pigmentary effects of the MC1R can account for all of th

116 nse through induction of cAMP and downstream pigmentary enzymes.

117 yer (mONL), photoreceptors (PR), and retinal pigmentary epithelium (RPE).

118 Obtaining pigmentary function in autologous skin grafts is a curre

119 gresses to elevated intraocular pressure and pigmentary glaucoma (PG).

120 sis of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG).

121 ucoma (POAG), normal-tension glaucoma (NTG), pigmentary glaucoma (PIGM), and pseudoexfoliation glauco

122 Secondary pigmentary glaucoma accompanying the implantation of a f

123 ed a series of cases who developed secondary pigmentary glaucoma after cataract operations.

124 eyes of 10 patients who developed secondary pigmentary glaucoma after foldable IOLs implantation in

125 and the pathway(s) by which it progresses to pigmentary glaucoma are not known.

126 he long-term outcomes of eyes with secondary pigmentary glaucoma associated with the implantation of

127 e involved in IL-18 mediated pathogenesis of pigmentary glaucoma in the eyes of DBA/2J mice.

128 DBA/2J (D2) mice develop a form of pigmentary glaucoma involving iris pigment dispersion (I

129 Pigmentary glaucoma is a significant cause of human blin

130 Pigmentary glaucoma is one of the most common forms of s

131 somes may play a part in the pathogenesis of pigmentary glaucoma observed in these mice.

132 a bleb-related infection to be diagnoses of pigmentary glaucoma or juvenile glaucoma, history of ble

133 itiates and/or amplifies the pathogenesis of pigmentary glaucoma requires further investigation.

134 f IL-18 participation in the pathogenesis of pigmentary glaucoma should provide approaches for develo

135 e pathophysiology of angle-closure glaucoma, pigmentary glaucoma, and a variety of other anterior seg

136 e precedes the onset of clinical evidence of pigmentary glaucoma, implying a pathogenic role of infla

137 the DBA/2J mouse as an animal model of human pigmentary glaucoma, we demonstrated for the first time

138 th primary open-angle, pseudoexfoliation, or pigmentary glaucoma, who failed a first trabeculectomy a

139 n process is involved in this mouse model of pigmentary glaucoma.

140 nosomes, causing iris disease and subsequent pigmentary glaucoma.

141 igment production may be beneficial in human pigmentary glaucoma.

142 osomal protein genes may contribute to human pigmentary glaucoma.

143 sd mice are a suitable alternative model for pigmentary glaucoma.

144 d mutations resulting in chronic age-related pigmentary glaucoma.

145 al pattern of pigmentation between different pigmentary groups.

146 Three patients had nummular pigmentary lesions along the arcades as typically seen i

147 cts including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lust

148 ethnic origins and in melanocytes of various pigmentary levels.

149 Melanins are pigmentary macromolecules found throughout the biosphere

150 estations of dominant cerebellar ataxia with pigmentary macular dystrophy, a review of the pathogenes

151 All 6 eyes demonstrated a pigmentary maculopathy ranging from mild to pronounced.

152 varian failure; short stature; hearing loss; pigmentary maculopathy; and renal tubular dysfunction.

153 phototoxicity, and lower protection by "non-pigmentary" MC1R effects.

154 C1R variants, and suggest an alternative non-pigmentary mechanism whereby MC1R variants could modify

155 melanoma development and progression via non-pigmentary mechanisms.

156 using northern and western blots, and their pigmentary modulating activities were demonstrated.

157 y induced by trauma, as well as mild diffuse pigmentary mottling on the trunk and proximal limbs.

158 halopathy with axonal spheroids" (HDLS) and "pigmentary orthochromatic leukodystrophy" (POLD), disord

159 oganoid is a mouse coat-color mutation whose pigmentary phenotype and genetic interactions resemble t

160 s are of key significance in determining the pigmentary phenotype and response to ultraviolet radiati

161 Pigmentary phenotype is a key determinant of an individu

162 Pigmentary phenotype is genetically complex and at a phy

163 Genome-wide association studies on pigmentary phenotypes provide a pool of candidate geneti

164 A cohort of 166 CMN subjects underwent pigmentary phenotyping, with MC1R genotyping in 113.

165 hat different mechanisms are involved in the pigmentary responses of the skin to different types of U

166 l of the retinal pigment epithelium (clumped pigmentary retinal degeneration).

167 utosomal recessive disorder characterized by pigmentary retinal degeneration, sensorineural hearing l

168 ccompanied by ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex.

169 d by multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, deve

170 ted with ocular cystinosis, foveoschisis and pigmentary retinal dystrophy.

171 lcifications; (3) macular scarring and focal pigmentary retinal mottling; (4) congenital contractures

172 phthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also had autoimmune polyglandular

173 Ocular findings previously described a pigmentary retinopathy and atrophy that now can be expan

174 egia at clinical presentation, hearing loss, pigmentary retinopathy and extrapyramidal features.

175 essive diseases characterized by progressive pigmentary retinopathy and sensorineural hearing loss.

176 alcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and sensorineur

177 (SD-OCT) findings of a patient who developed pigmentary retinopathy following high-dose deferoxamine

178 syndrome, Goldman-Favre syndrome and clumped pigmentary retinopathy in humans, allelic disorders caus

179 and serous retinal detachments, a unilateral pigmentary retinopathy mimicking retinitis pigmentosa, n

180 The affected eye in unilateral pigmentary retinopathy shows a progressive loss of perip

181 yndrome, Goldman-Favre syndrome, and clumped pigmentary retinopathy that is also associated with an a

182 Pigmentary retinopathy was less prominent in the superio

183 Fundoscopy showed fundus features of pigmentary retinopathy with atrophic macular lesions.

184 abnormalities, such as cleft lip and palate, pigmentary retinopathy, and multiple tubular stenoses (e

185 tic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.

186 alcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and sensorin

187 cessive Bardet-Biedl syndrome (BBS; obesity, pigmentary retinopathy, polydactyly, hypogonadism, renal

188 ome (BBS) which is characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities

189 sorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations

190 sorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations

191 recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations

192 ted neurodegeneration (PKAN), which leads to pigmentary retinopathy, progressive dystonia and other a

193 nces, bull's eye maculopathy, and peripheral pigmentary retinopathy.

194 white flashes in 15 patients with unilateral pigmentary retinopathy.

195 ate MC1R genotype to phenotype, by measuring pigmentary status using categorical scales.

196 o improve the phenotypic assessment of human pigmentary status.

197 on due to PAX3 mutations causes the auditory-pigmentary symptoms in at least some individuals with WS

198 m by which PAX3 mutations cause the auditory-pigmentary symptoms in WS1/WS3 remains to be explained.

199 help to identify additional unknown deafness-pigmentary syndrome mutations in human kindred and permi

200 Harlequin is a pigmentary trait of the domestic dog that is controlled

201 en, we examined the associations between (i) pigmentary traits and (ii) reactions to sun exposure and

202 skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and comp

203 that might cause iris inflammation or even a pigmentary-type of glaucoma.

204 chanisms of the remodeling of the follicular pigmentary unit during HF anagen-catagen-telogen transit

205 The fate of the hair follicle pigmentary unit during the cyclical involution of anagen

206 of precise interactions in the hair follicle pigmentary unit, e.g., between follicular melanocytes, k

207 duced catagen display similar changes in the pigmentary unit.

208 sm that can explain several aspects of human pigmentary variation and show how polymorphism of essent

209 ework, can contribute significantly to human pigmentary variation.

210 agouti protein may not play a role in human pigmentary variation.

211 fied other loci that appear to contribute to pigmentary variation.

212 The only gene known to exert an effect on pigmentary within the normal population is the melanocor