ライフサイエンスコーパス: ectodermal dysplasia

1 ouston syndrome (autosomal dominant hidrotic ectodermal dysplasia).

2 , leading to the human disorder hypohidrotic ectodermal dysplasia.

3 l dystrophy accompanied by other features of ectodermal dysplasia.

4 g during development results in hypohidrotic ectodermal dysplasia.

5 ing wild type fetuses a marked and permanent ectodermal dysplasia.

6 cells, and Ig production, but did not cause ectodermal dysplasia.

7 ly cause a syndrome of immune deficiency and ectodermal dysplasia.

8 ownstream adaptor EDARADD cause hypohidrotic ectodermal dysplasia.

9 understanding the basis of several forms of ectodermal dysplasia.

10 Tabby) phenocopy human X-linked hypohidrotic ectodermal dysplasia.

11 esent in a family affected with hypohidrotic ectodermal dysplasia.

12 erm-line human mutations were found to cause ectodermal dysplasia.

13 responsible for two rare diseases related to ectodermal dysplasias.

14 of the role of p63 in normal development and ectodermal dysplasias.

15 oreover, some affected individuals displayed ectodermal dysplasia, a congenital condition that can re

16 n the EDA gene cause anhidrotic/hypohidrotic ectodermal dysplasia, a disorder characterized by defect

17 pathway are mutated in humans and mice with ectodermal dysplasias--a failure of hair and tooth devel

18 Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a disorder characterized

19 s of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails.

20 yndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teet

21 atient, a female with mental retardation and ectodermal dysplasia and a balanced translocation, t(X;9

22 cause human diseases, including ectrodactyly ectodermal dysplasia and facial clefting (EEC) syndrome.

23 e of incontinentia pigmenti and hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).

24 sult in survival of males subjects, but with ectodermal dysplasia and immunodeficiency.

25 responsible for the most common form of the ectodermal dysplasia and the defective orthologous gene

26 h domain or those associated with anhidrotic ectodermal dysplasia and the downless phenotype.

27 7 patients to rule out the effects of other ectodermal dysplasias and other tooth-related genes and

28 Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrom

29 adult skin keratinocytes from ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrom

30 hat are characterized by limb abnormalities, ectodermal dysplasia, and facial anomalies.

31 entified in families with EEC (ectrodactyly, ectodermal dysplasia, and facial cleft) syndrome.

32 recent advances in neurocutaneous disorders, ectodermal dysplasias, and the phenomenon of revertant g

33 The ectodermal dysplasias are a group of inherited autosomal

34 iciency, growth hormone deficiency, and mild ectodermal dysplasia as previously described.

35 ding sequence of the DLX3 gene results in an ectodermal dysplasia called Tricho-Dento-Osseous syndrom

36 tis-ichthyosis-deafness (KID) syndrome is an ectodermal dysplasia caused by dominant mutations of con

37 Hairless dog breeds show a form of ectodermal dysplasia characterised by a lack of hair and

38 todermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmopla

39 achyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail

40 ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing kera

41 arber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical

42 igmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of de

43 tly, a large Dutch family with ectrodactyly, ectodermal dysplasia, cleft palate, and urogenital defec

44 splasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292

45 p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not

46 utations associated with the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (Hay-Wells

47 ells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 10626

48 fferentiation in TP63 mutant ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is unknown.

49 OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060).

50 ions in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which

51 s with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, macular dystrophy (E

52 Mutations of p63 also cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC)

53 responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1), which we id

54 Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive dis

55 identified critical anhidrotic/hypohidrotic ectodermal dysplasia (EDA) effectors in four pathways, t

56 Lesions in the anhidrotic ectodermal dysplasia (EDA) gene cause the recessive huma

57 factor family, is encoded by the anhidrotic ectodermal dysplasia (EDA) gene.

58 Anhidrotic ectodermal dysplasia (EDA) is a disorder characterized b

59 Anhidrotic ectodermal dysplasia (EDA) is a human genetic disorder o

60 X-linked anhidrotic/hypohidrotic ectodermal dysplasia (EDA) is caused by mutations in the

61 ntify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA), a translocation breakpoint i

62 Mutations in the EDA gene cause anhidrotic ectodermal dysplasia (EDA), with lesions in skin appenda

63 Ectodermal dysplasias (EDs) are a group of human patholo

64 EDA, the gene mutated in anhidrotic ectodermal dysplasia, encodes ectodysplasin, a TNF super

65 ining 25 males, one infant with hypohidrotic ectodermal dysplasia had a mutation of NEMO.

66 o date, the genetic defects underlying these ectodermal dysplasias have not been determined.

67 Patients with hypohidrotic ectodermal dysplasia (HED) and Tabby (Ta) mice lack swea

68 Hypohydrotic Ectodermal Dysplasia (HED) is a genetic disease seen in

69 Hypohidrotic ectodermal dysplasia (HED) results from mutation of the

70 mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by

71 Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of tee

72 Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic disorder character

73 the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice.

74 n Edar-or its ligand, Eda-cause hypohidrotic ectodermal dysplasia in humans and mice.

75 dages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle.

76 ominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infectio

77 Clouston syndrome is an hidrotic form of ectodermal dysplasia, inherited as an autosomal dominant

78 Ectodermal dysplasia is a group of congenital syndromes

79 Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant disorder

80 Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectoderma

81 cause developmental disorders manifested in ectodermal dysplasia, limb defects, and orofacial clefti

82 sseous (TDO) syndrome, an autosomal dominant ectodermal dysplasia linked to mutations in the DLX3 gen

83 inked recessive trait mapped to the X-linked ectodermal dysplasia locus, EDA, at Xq12-q13.1.

84 intrastromal corneal ring segments (n = 2), ectodermal dysplasia (n = 1), and corneal choristoma (n

85 alysis of patients with CID, anhidrosis, and ectodermal dysplasia of unknown etiology.

86 dominantly inherited disorders apparented to ectodermal dysplasias, pachyonychia congenita (PC), and

87 xplanation for the sensorineural deafness in ectodermal dysplasia patients with TRP63 mutations.

88 The crinkled mutant has an hypohidrotic ectodermal dysplasia phenotype identical to that of the

89 R, and EDARADD in mice and humans produce an ectodermal dysplasia phenotype that includes missing tee

90 an genetic disorders: monilethrix, hair-nail ectodermal dysplasia, pseudofolliculitis barbae and wool

91 The ectodermal dysplasia receptor (EDAR) is a recently isola

92 X-linked ectodermal dysplasia receptor (XEDAR) is a recently isol

93 X-linked ectodermal dysplasia receptor (XEDAR) is a recently isol

94 X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis o

95 al dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal developme

96 Ectodermal dysplasia/skin fragility syndrome is a recent

97 of plakophilin-1 is the underlying cause of ectodermal dysplasia/skin fragility syndrome, and skin f

98 clinical findings of an autosomal-recessive ectodermal dysplasia syndrome provide insight into the r

99 nsistent with an unusual autosomal-recessive ectodermal dysplasia syndrome.

100 ut some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly

101 almoplantar keratoderma (PPK or palmoplantar ectodermal dysplasia type III) is associated with oesoph

102 e human genetic disorder X-linked anhidrotic ectodermal dysplasia, which is characterized by the poor

103 y skin and intestinal disease in addition to ectodermal dysplasia with anhidrosis and immunodeficienc

104 ypomorphic NEMO mutations result in X-linked ectodermal dysplasia with anhidrosis and immunodeficienc

105 n unrelated kindreds with CID, autoimmunity, ectodermal dysplasia with anhidrosis, and muscular dyspl

106 B cells of patients with X-linked anhidrotic ectodermal dysplasia with hyper-IgM syndrome (HED-ID) wh

107 Ectodermal dysplasia with immune deficiency (EDI) is an

108 Ectodermal dysplasia with immune deficiency (EDI) is cau

109 inked syndrome characterized by hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID).

110 Patients with ectodermal dysplasia with immunodeficiency (ED-ID) cause

111 mplicated in the genetic disorder anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID).

112 nger are found in patients with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) and

113 previously reported patients with anhidrotic ectodermal dysplasia with immunodeficiency caused by mut

114 The anhydrotic ectodermal dysplasia with immunodeficiency patients' imm

115 he D406V mutation found in the NEMO ZF of an ectodermal dysplasia with immunodeficiency patients.

116 rosis, representing a new form of anhidrotic ectodermal dysplasia with immunodeficiency that is disti

117 O gene result in various forms of anhidrotic ectodermal dysplasia with immunodeficiency.

118 human genetic disorder called the anhydrotic ectodermal dysplasia with immunodeficiency.

119 incontinentia pigmenti (IP) and hypohidrotic ectodermal dysplasia with severe immunodeficiency.

120 NEMO) cause X-linked hyper-IgM syndrome with ectodermal dysplasia (XHM-ED).

121 rized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED).These mutations prevent CD

122 X-linked hypohidrotic ectodermal dysplasia (XLHED) is a heritable disorder of

123 X-Linked hypohidrotic ectodermal dysplasia (XLHED) is a human congenital disor

124 (EDA) are affected by X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized

125 The X-linked hypohidrotic ectodermal dysplasia (XLHED), resulting from EDA deficie

126 X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ect