ライフサイエンスコーパス: hypopigmentation

1 ardiomyopathy, combined immunodeficiency and hypopigmentation.

2 istopathies which display varying degrees of hypopigmentation.

3 focal autoimmunity, manifested as autoimmune hypopigmentation.

4 and a small proportion of them develop mild hypopigmentation.

5 ariable microphthalmia and patchy coat color hypopigmentation.

6 -) macrophages did develop antibody-mediated hypopigmentation.

7 All forms of OCA exhibit generalized hypopigmentation.

8 ffects of modifier loci on the patterning of hypopigmentation.

9 nt for the k10(C3H) action on white forelock hypopigmentation.

10 almost all of the genetic variance of dorsal hypopigmentation.

11 responding to immunotherapy who have induced hypopigmentation.

12 ernal behavior in addition to p gene-related hypopigmentation.

13 dominant disorder consisting of deafness and hypopigmentation.

14 10.0%) had hyperpigmentation, 43 (13.4%) had hypopigmentation, 249 (77.8%) had small drusen, 250 (78.

15 kin atrophy (17, 28%, vs 5, 8%; p=0.008) and hypopigmentation (27, 45%, vs 9, 15%; p=0.001).

16 e) were fatigue (29 patients), skin and hair hypopigmentation (28), diarrhoea (27), and nausea (27).

17 es had early AMD (drusen, hyperpigmentation, hypopigmentation), 5 had extrafoveal geographic atrophy,

18 ruption (24 [29%]), pruritus (10 [12%]), and hypopigmentation (7 [8%]).

19 Hermansky-Pudlak syndrome (HPS) is a genetic hypopigmentation and bleeding disorder caused by defecti

20 s, and suggest that other patients with mild hypopigmentation and decreased vision should be examined

21 tem and peripheral nervous system as well as hypopigmentation and enteric aganglionosis.

22 Melanoma patients who developed hypopigmentation and had improved survival after polyval

23 me (WS) is a hereditary disorder that causes hypopigmentation and hearing impairment.

24 Therefore, hypopigmentation and hearing loss in WS2 are likely to b

25 the DBA/J background and causes generalized hypopigmentation and localized white-spotting in mice, w

26 s, pekin (pn), also demonstrated generalized hypopigmentation and other defects, including disruption

27 ell as gross morphological defects including hypopigmentation and pericardial oedema.

28 e (HPS), a genetic disorder characterized by hypopigmentation and platelet storage pool deficiency.

29 coat in heterozygotes, but did lead to coat hypopigmentation and reduced copper content in the brain

30 syndrome, a condition characterized by mild hypopigmentation and severe, primary neurological abnorm

31 esented pigmented macules on a background of hypopigmentation and teleangiectasias, resulting in a po

32 e libraries of mutated DNA induce autoimmune hypopigmentation and tumor immunity through cross-recogn

33 ns of all types of OCA include skin and hair hypopigmentation and visual impairment.

34 Here we describe moonlight (mnlt), a second hypopigmentation and white-spotting mutation identified

35 e, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defects.

36 autoimmune disease vitiligo, therapy-induced hypopigmentation, and cutaneous melanoma has not been we

37 opper transporter localization contribute to hypopigmentation, and hence perhaps other systemic defec

38 ts, thickened Bruch's membrane, and atrophy, hypopigmentation, and hyperpigmentation of the retinal p

39 ve extreme early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from th

40 ma, rash, pruritus, hyperpigmentation, pain, hypopigmentation, and oedema) occurred in 943 (93%) of 1

41 imals exhibited growth failure, skin laxity, hypopigmentation, and seizures because of perinatal copp

42 nting with aganglionosis in association with hypopigmentation are classified as Waardenburg syndrome

43 s albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental ab

44 e autosomal recessive disorder, resulting in hypopigmentation, bleeding and immune cell dysfunction.

45 Vitiligo (autoimmune hypopigmentation) can be mediated by T cells, FcgammaR+m

46 ipal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction

47 ox10(Dom) mice and WS-IV patients consist of hypopigmentation, cochlear neurosensory deafness, and en

48 has provided several significant models for hypopigmentation disorders, including the major forms of

49 rapeutic target to promote repigmentation in hypopigmentation disorders.

50 oximity to a previously reported modifier of hypopigmentation for the endothelin receptor B mouse mod

51 Visual defects associated with hypopigmentation have been studied extensively in Siames

52 PS), an inherited disorder of humans causing hypopigmentation, hemorrhaging and early death due to lu

53 s hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients.

54 nthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentat

55 Iris hypopigmentation in 8 eyes was sector in 6 (75%) and dif

56 Choroidal hypopigmentation in 9 eyes (100%) showed a sector patter

57 phenylalanine concomitant with reversion of hypopigmentation in a dose-dependent manner for more tha

58 (PMH) is a common skin disorder that causes hypopigmentation in a variety of skin types.

59 Fascin 1 knockout causes hypopigmentation in adult mice owing to migration and ce

60 lver mutation, which is associated with coat hypopigmentation in certain strain backgrounds.

61 However, we also observed an increase in hypopigmentation in conjunction with a C3HeB/FeJLe-a/a l

62 ttranslational processing of tyrosinase, and hypopigmentation in melan-p1 cells is the result of alte

63 tion into the culture medium, explaining the hypopigmentation in OCA-4.

64 development of cutaneous AEs, especially of hypopigmentation in patients with melanoma, could point

65 a null mutation of Gli3 causes the increased hypopigmentation in Sox10(LacZ/+);Gli3(Mos1/)(+) double

66 ecessive mutation in the mouse, mhyp (mosaic hypopigmentation), in a screen for novel proviral integr

67 ice exhibit variability of aganglionosis and hypopigmentation influenced by genetic background simila

68 udlak Syndrome (HPS), whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged

69 Linkage analysis localized a hypopigmentation modifier of the Dom phenotype to mouse

70 The mouse hypopigmentation mutant pearl is an established model fo

71 let-dense granules are abnormal in the mouse hypopigmentation mutant pearl.

72 d the varied expressivity of white spotting (hypopigmentation) observed in intrasubspecific crosses o

73 Hypopigmentation occurred in mice deficient in activatin

74 lanosome production was evident in increased hypopigmentation of the coat together with dramatic quan

75 hain 3 beta (LC3), in MCs and induced slight hypopigmentation of the epidermis in mice.

76 Waardenburg syndrome manifests hypopigmentation of the iris and choroid with imaging fe

77 Fundus examination disclosed punctate hypopigmentation of the retinal pigment epithelium mainl

78 on characterized by a bleeding diathesis and hypopigmentation of the skin, hair, and eyes.

79 group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes.

80 features associated with albinism, including hypopigmentation of the skin, hair, and eyes; optic trac

81 utosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism and severe i

82 Chronic IFN-gamma signaling shows a clear hypopigmentation phenotype in both mouse and human skin.

83 and inactivation of mouse Vps33a causes buff hypopigmentation phenotype.

84 endent step, and likely explain the distinct hypopigmentation phenotypes associated with BLOC-1 and B

85 derwhite locus confer one of the most severe hypopigmentation phenotypes, similar to mutations at the

86 The fact that hypopigmentation profoundly alleviates the D2 disease in

87 ients with Griscelli syndrome, presents with hypopigmentation, prolonged bleeding times, and platelet

88 Patients show hypopigmentation, recurrent infections, mild coagulation

89 In contrast, the hypopigmentation seen in the gunmetal strain is due to t

90 hree cellular mechanisms contributing to the hypopigmentation seen in the Hermansky-Pudlak syndrome:

91 utosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neu

92 the Fig4(Sac3) gene that results in tremor, hypopigmentation, spongiform degeneration of the brain,

93 both Fc gamma R gamma and C3 did not develop hypopigmentation, suggesting that complement and Fc gamm

94 ortin receptor 1 locus exhibited more severe hypopigmentation than either mutation alone, suggesting

95 (TYRP-1) of melanocytes leads to autoimmune hypopigmentation (vitiligo) in mice.

96 Patches of RPE hypopigmentation were noted clinically in 57% of Rab38(c

97 All 7 patients who developed hypopigmentation were treated for melanoma.