ライフサイエンスコーパス: ichthyosis

1 und heterozygotes generally have more marked ichthyosis.

2 vere form of autosomal-recessive, congenital ichthyosis.

3 equently lethal form of recessive congenital ichthyosis.

4 ing occur in a number of forms of congenital ichthyosis.

5 ly for another "scaffold disorder", lamellar ichthyosis.

6 e pathological skin condition that resembles ichthyosis.

7 eported in BSI and other forms of congenital ichthyosis.

8 1 enzyme (TGase 1) activity causes lamellar ichthyosis.

9 ier defect and inflammation in patients with ichthyosis.

10 , which is manifested clinically as X-linked ichthyosis.

11 s in Vohwinkel's Keratoderma associated with ichthyosis.

12 ormal barrier function in recessive x-linked ichthyosis.

13 nts with CIE and three with classic lamellar ichthyosis.

14 e a third kindred with annular epidermolytic ichthyosis.

15 ntal retardation, spasticity, and congenital ichthyosis.

16 erized by mental retardation, spasticity and ichthyosis.

17 cessive congenital ichthyosis, and harlequin ichthyosis.

18 cessive congenital ichthyosis, and harlequin ichthyosis.

19 h an autosomal-recessive form of exfoliative ichthyosis.

20 is vulgaris but is present in other forms of ichthyosis.

21 two neonates of Indian origin with harlequin ichthyosis.

22 the treatment of ectropion in patients with ichthyosis.

23 likely underlies ectropion in patients with ichthyosis.

24 erum Ig E level, perivascular dermatitis and ichthyosis.

25 of atypical nevi in patients with inherited ichthyosis.

26 lococcal scalded skin syndrome and inherited ichthyosis.

27 the underlying genetic cause of exfoliative ichthyosis.

28 of TG1 mutants may be an underlying cause of ichthyosis.

29 sia, whereas in mice Lbr mutations result in ichthyosis.

30 ying cause of autosomal recessive congenital ichthyosis, a debilitating skin disease, the pathogenic

31 Gene mutations of ABCA12 underlie harlequin ichthyosis, a devastating skin disorder characterized by

32 In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and

33 Those mice developed ichthyosis and a skin barrier defect, which led to death

34 melia, sectorial cataracts, patchy alopecia, ichthyosis and atrophoderma.

35 ntrast, CGI-58 gene mutations provoke severe ichthyosis and hepatosteatosis in humans and mice, where

36 ion is a complication of certain subtypes of ichthyosis and is often associated with substantial medi

37 s of ABCA12 were found to underlie Harlequin ichthyosis and lamellar ichthyosis, two devastating skin

38 ERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contribute

39 e fingerprint with the major orphan forms of ichthyosis and raise the possibility of IL-17-targeting

40 s by 12 dermatologists at the Foundation for Ichthyosis and Related Skin Types conference.

41 Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome i

42 ere palmoplantar keratoderma associated with ichthyosis and sensorineural deafness.

43 lipid metabolism, such as recessive X-linked ichthyosis and type 2 Gaucher's disease.

44 2 variant who presented with collodion skin, ichthyosis, and a rapid neurodegenerative course had two

45 f ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis.

46 f ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis.

47 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of hereditary

48 lta(14)-reductase and that HEM dysplasia and ichthyosis are inborn errors of cholesterol synthesis.

49 esterol synthesis and that HEM dysplasia and ichthyosis are laminopathies rather than inborn errors o

50 Clinical measures included the Ichthyosis Area Severity Index (IASI), which integrates

51 on-temperature-sensitive forms of congenital ichthyosis (Arg143Cys, Gly218Ser, Gly278Arg, Arg286Gln,

52 ER accumulation is also observed for ichthyosis-associated TG1 mutants.

53 spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosif

54 ene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, a

55 ene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, a

56 Bathing suit ichthyosis (BSI) is a rare congenital disorder of kerati

57 Ichthyosis bullosa of Siemens (IBS) is a rare autosomal

58 lts emphasize that mutations in K2e underlie ichthyosis bullosa of Siemens and provide a comprehensiv

59 E482K in the 2B domain of K2e, were found in ichthyosis bullosa of Siemens families.

60 We and others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant dis

61 PNPLA1) cause autosomal recessive congenital ichthyosis, but the mechanism involved remains unclear.

62 amily, ABCA12, have been linked to harlequin ichthyosis, but the molecular function of the protein is

63 An autosomal recessive ichthyosis characterized by collodian membrane at birth

64 romic form of autosomal recessive congenital ichthyosis characterized by hyperkeratosis and a disrupt

65 sy specimens from 21 genotyped patients with ichthyosis (congenital ichthyosiform erythroderma, n = 6

66 Keratitis-ichthyosis-deafness (KID) syndrome is an ectodermal dysp

67 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratod

68 d RM in the skin of a patient with keratitis-ichthyosis-deafness (KID) syndrome.

69 iated with disease pathogenesis in keratitis-ichthyosis-deafness (KID) syndrome.

70 Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal

71 ated with skin disorders, like the Keratitis-Ichthyosis-Deafness syndrome (KID).

72 nse mutation in Cx26, which causes keratitis-ichthyosis-deafness syndrome (KIDS), a rare genetic diso

73 iated with skin disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS).

74 an also appear in individuals with keratitis-ichthyosis-deafness syndrome and finding somatic mutatio

75 with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO2 insensitive a

76 verlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by d

77 3B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome.

78 ng the risk of having a child with keratitis-ichthyosis-deafness syndrome.

79 se the severe multisystem disorder keratitis-ichthyosis-deafness syndrome.

80 insight into the skin barrier formation and ichthyosis development, and may contribute to novel ther

81 deletions, and truncations found in lamellar ichthyosis disease affect the structure and function of

82 Patients with recessive x-linked ichthyosis display both an abnormal barrier under basal

83 Because patients with recessive x-linked ichthyosis display not only a 10-fold increase in choles

84 ents with transglutaminase-negative lamellar ichthyosis do not.

85 Epidermolytic ichthyosis (EI) due to KRT10 mutations is a rare, typica

86 Because the NLSD phenotype includes ichthyosis, fatty liver, myopathy, cardiomyopathy, and m

87 s with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and

88 on is very similar to human type 2 harlequin ichthyosis for which it may be a good model.

89 We describe a patient with recessive ichthyosis for whom daily application of topical tazarot

90 tic hyperkeratosis is a dominantly inherited ichthyosis, frequently associated with mutations in kera

91 rized by localized or generalized congenital ichthyosis, hair shaft abnormalities, immune deficiency,

92 nd often lethal form of recessive congenital ichthyosis, harlequin ichthyosis (HI).

93 Congenital recessive ichthyosis has a broad range of clinical presentations,

94 Recently, autosomal recessive ichthyosis has been associated with keratinocyte transgl

95 Genetic heterogeneity in lamellar ichthyosis has been recognized with reports of two linke

96 Harlequin ichthyosis (HI) is the most severe and frequently lethal

97 Harlequin ichthyosis (HI) is the most severe form of autosomal-rec

98 f recessive congenital ichthyosis, harlequin ichthyosis (HI).

99 the treatment of ectropion in patients with ichthyosis; however, this case illustrates that topical

100 striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift m

101 re form of epidermal hyperkeratosis known as ichthyosis hystrix Curth-Macklin.

102 ved from EML-ic/ic cells, a myeloid model of ichthyosis (ic) bone marrow that lacks Lbr expression.

103 e of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great interest because

104 ce homozygous for deleterious alleles at the ichthyosis (ic) locus present with a blood phenotype sim

105 The harlequin ichthyosis (ichq) mouse mutation arose spontaneously in

106 ansglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in other congeni

107 duals with this variant present with bullous ichthyosis in early childhood and hyperkeratotic licheni

108 causative for autosomal recessive congenital ichthyosis in humans and dogs.

109 n shown to cause HEM dysplasia in humans and ichthyosis in mice.

110 glutaminase 1 gene are the cause of lamellar ichthyosis in this family, and illustrate an emerging cl

111 Lamellar ichthyosis is a congenital recessive skin disorder chara

112 Harlequin ichthyosis is a congenital scaling syndrome of the skin

113 Annular epidermolytic ichthyosis is a distinct phenotypic variant of bullous c

114 Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders associa

115 Harequin ichthyosis is a severe autosomal recessive ichthyosis of

116 Lamellar ichthyosis is a severe, generalized, autosomal recessive

117 Bathing suit ichthyosis is caused by recessive, temperature-sensitive

118 chanism how elevated epidermal CSO(4) causes ichthyosis is largely unknown.

119 X-linked ichthyosis is the result of steroid sulfatase (STS) defi

120 cription of the genetic etiology of X-linked ichthyosis: it results from aberrant recombination betwe

121 n normal epidermis and in a case of lamellar ichthyosis lacking transglutaminase 1 activity.

122 Lamellar ichthyosis (LI) is a disfiguring skin disease characteri

123 wn of the principle gene mutated in lamellar ichthyosis (LI), transglutaminase-1, in rat keratinocyte

124 r two had more severe, generalized harlequin ichthyosis-like skin.

125 in the majority of affected individuals and ichthyosis linearis circumflexa was seen in 12 out of 24

126 (ic, ic(J) and ic(4J), respectively) at the ichthyosis locus.

127 erein deletions are associated with X-linked ichthyosis, mental retardation and attention deficit hyp

128 utosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficien

129 as sterol Delta(14)-reductases, we obtained ichthyosis mice (Lbr(-/-)) and disrupted Dhcr14.

130 Skin grafts from harlequin ichthyosis mice grafted onto immunodeficient nude mice m

131 Harlequin ichthyosis mice on the inbred BALB/cJ background died be

132 ypically, the Lbr(GT/GT) mice are similar to ichthyosis mice.

133 Neither of these mutants resembles the ichthyosis mouse and biochemically, no sterol abnormalit

134 The harlequin ichthyosis mouse mutation is very similar to human type

135 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n = 5; and Netherton syndrome, n = 3) using

136 ichthyosiform erythroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n = 5; and

137 rome, epidermolytic hyperkeratosis, X-linked ichthyosis, Netherton syndrome, and Hermansky-Pudlak syn

138 Neutral lipid storage disease with ichthyosis (NLSDI; Chanarin-Dorfman syndrome) is an icht

139 n ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutat

140 omain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man.

141 Although lamellar ichthyosis patients displayed no TGase1 expression, an a

142 To ascertain the molecular basis of ichthyosis patients in Iran, a country of approximately

143 by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and growth retarda

144 Thus the lamellar ichthyosis phenotype in this case is likely attributable

145 ing of 38 genes reported in association with ichthyosis phenotypes.

146 s in SLC27A4, the gene encoding FATP4, cause ichthyosis prematurity syndrome (IPS), characterized by

147 ations for understanding the pathogenesis of ichthyosis prematurity syndrome, a disease recently show

148 in human SLC27A4, which encodes FATP4, cause ichthyosis prematurity syndrome, characterized by a thic

149 Autosomal-recessive exfoliative ichthyosis presents shortly after birth as dry, scaly sk

150 om also manifested other features, including ichthyosis, primary hypothyroidism, neurological symptom

151 of an international consensus conference on ichthyosis published this year will help all of us to be

152 nsights into the pathophysiology of lamellar ichthyosis resulting from defects of TGase 1 enzyme.

153 sum, cerebellar hypoplasia, microcephaly and ichthyosis, revealed a candidate disease locus in Xq21.3

154 ase), are responsible for recessive x-linked ichthyosis (RXLI).

155 Ichthyosis samples showed increased epidermal hyperplasi

156 We tested the Visual Index for Ichthyosis Severity for reliability and reproducibility

157 We designed and validated a Visual Index for Ichthyosis Severity for scale and erythema that provides

158 analysis indicates that the Visual Index for Ichthyosis Severity performs better in person than with

159 microcephaly, a distinct facial appearance, ichthyosis, skeletal anomalies, and perinatal lethality.

160 zygous mutations were found in patients with ichthyosis, spastic paraplegia, and severe neurodevelopm

161 one served as a model for recessive X-linked ichthyosis stratum corneum.

162 But in contrast to lamellar ichthyosis, the CE scaffold partially normalizes in the

163 throderma in infancy and by erythroderma and ichthyosis thereafter.

164 o underlie Harlequin ichthyosis and lamellar ichthyosis, two devastating skin disorders.

165 -of-function mutations in the FLG gene cause ichthyosis vulgaris (IV) and represent the major predisp

166 Ichthyosis vulgaris (IV) is an inherited scaling skin di

167 aggrin gene (FLG) as the underlying cause of ichthyosis vulgaris (IV), a common skin disorder charact

168 Ichthyosis vulgaris (IV), characterized by mild scaling

169 he cause of the common genetic skin disorder ichthyosis vulgaris (IV), the most prevalent inherited d

170 Ichthyosis vulgaris (OMIM 146700) is the most common inh

171 e FLG gene underlie the common skin disorder ichthyosis vulgaris and are significant risk factors for

172 KP is associated clinically with ichthyosis vulgaris and atopic dermatitis and molecular

173 ociation between filaggrin null mutations of ichthyosis vulgaris and atopic dermatitis.

174 on filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and seconda

175 aky tail mice or in newborn individuals with ichthyosis vulgaris but is present in other forms of ich

176 rin (FLG) as the cause of moderate or severe ichthyosis vulgaris in 15 kindreds.

177 in the filaggrin (FLG) gene are the cause of ichthyosis vulgaris-the most common disorder of keratini

178 whereas null mutations in the FLG gene cause ichthyosis vulgaris.

179 n ancestry, explaining the high incidence of ichthyosis vulgaris.

180 bserved in the flaky tail mouse, a model for ichthyosis vulgaris.

181 the filaggrin-deficient human skin disorder ichthyosis vulgaris.

182 henotype that resembles the genetic disorder ichthyosis vulgaris.

183 CCL20, and IL36G; P < .05) in patients with ichthyosis was similar to that seen in patients with pso

184 cohort of four small families with lamellar ichthyosis we found confirmatory evidence for linkage (p

185 n, mutated in autosomal recessive congenital ichthyosis, we have studied their Drosophila melanogaste

186 robands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mu

187 erferon (IFN-gamma) markers in patients with ichthyosis were comparable with those in patients with p

188 TNF-alpha levels in patients with ichthyosis were increased only in those with Netherton s

189 without internal organ involvement, lamellar ichthyosis, which is characterized by minimal erythema a

190 5(R820X/R820X) mice develop a lethal, severe ichthyosis with a loss of skin barrier function and dehy

191 Ichthyosis with confetti (IWC) is a genodermatosis cause

192 d that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disord

193 zuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, sh

194 Ichthyosis with confetti is a rare, autosomal dominant d

195 The high frequency of somatic reversion in ichthyosis with confetti suggests that revertant stem ce

196 Here we show that ichthyosis with confetti, a severe, sporadic skin diseas

197 Human autosomal recessive ichthyosis with hypotrichosis (ARIH) is an inherited dis

198 o congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ic

199 e developed hyperproliferative and retention ichthyosis with impaired desquamation, hypotrichosis wit

200 ether with the other major form of recessive ichthyosis without internal organ involvement, lamellar

201 Recessive X-linked ichthyosis (XI) results from accumulation of excess chol

202 We have utilized X-linked ichthyosis (XLI), characterized by loss of function of t

203 ons inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene