ライフサイエンスコーパス: ichthyosis

1 likely underlies ectropion in patients with ichthyosis.

2 erum Ig E level, perivascular dermatitis and ichthyosis.

3 of atypical nevi in patients with inherited ichthyosis.

4 lococcal scalded skin syndrome and inherited ichthyosis.

5 the underlying genetic cause of exfoliative ichthyosis.

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

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

8 und heterozygotes generally have more marked ichthyosis.

9 vere form of autosomal-recessive, congenital ichthyosis.

10 equently lethal form of recessive congenital ichthyosis.

11 ng a therapy for patients with epidermolytic ichthyosis.

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

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

14 tly inherited diseases such as epidermolytic ichthyosis.

15 e pathological skin condition that resembles ichthyosis.

16 1 enzyme (TGase 1) activity causes lamellar ichthyosis.

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

18 s in Vohwinkel's Keratoderma associated with ichthyosis.

19 ormal barrier function in recessive x-linked ichthyosis.

20 nts with CIE and three with classic lamellar ichthyosis.

21 e a third kindred with annular epidermolytic ichthyosis.

22 ntal retardation, spasticity, and congenital ichthyosis.

23 erized by mental retardation, spasticity and ichthyosis.

24 reated from photographs of participants with ichthyosis.

25 including ectodermal dysplasia and harlequin ichthyosis.

26 ns are associated with skin diseases such as ichthyosis.

27 cumulation in numerous cell types and severe ichthyosis.

28 psoriasis may prove useful for patients with ichthyosis.

29 , similar to those observed in patients with ichthyosis.

30 ry pathways in patients with common forms of ichthyosis.

31 ssociated variants in other genes that cause ichthyosis.

32 the family of autosomal recessive congenital ichthyosis.

33 scriptomes in a large group of patients with ichthyosis.

34 cessive congenital ichthyosis, and harlequin ichthyosis.

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

36 eported in BSI and other forms of congenital ichthyosis.

37 ier defect and inflammation in patients with ichthyosis.

38 cessive congenital ichthyosis, and harlequin ichthyosis.

39 h an autosomal-recessive form of exfoliative ichthyosis.

40 two neonates of Indian origin with harlequin ichthyosis.

41 the treatment of ectropion in patients with ichthyosis.

42 th Netherton syndrome, 13 with epidermolytic ichthyosis, 16 with lamellar ichthyosis, and 18 with con

43 RNA-sequencing analysis in 54 patients with ichthyosis (7 with Netherton syndrome, 13 with epidermol

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

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

46 turing palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been exclusiv

47 enes, which in humans and mouse models cause ichthyosis, a skin disease characterized by a thick, hyp

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

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

50 fects in epidermal cornification in lamellar ichthyosis and acral peeling skin syndrome, respectively

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

52 cterized the skin microbiome from 7 types of ichthyosis and confirmed previous reports of genotype-re

53 keratinization disorders such as congenital ichthyosis and Darier disease.

54 d an international group of individuals with ichthyosis and describes characteristic and distinguishi

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

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

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

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

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

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

61 Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome i

62 ere palmoplantar keratoderma associated with ichthyosis and sensorineural deafness.

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

64 h epidermolytic ichthyosis, 16 with lamellar ichthyosis, and 18 with congenital ichthyosiform erythro

65 2 variant who presented with collodion skin, ichthyosis, and a rapid neurodegenerative course had two

66 sociated with autosomal recessive congenital ichthyosis, and clinical manifestations include mild to

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

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

69 nteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive d

70 Autosomal recessive congenital ichthyosis (ARCI) is a diverse group of cornification di

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

72 tant cause of autosomal recessive congenital ichthyosis (ARCI).

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

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

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

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

77 ominent allergy including atopic dermatitis, ichthyosis, arthralgia, chronic diarrhea, disseminated c

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

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

80 of a broad range of skin diseases, including ichthyosis, atopic dermatitis, and a multitude of clinic

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

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

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

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

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

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

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

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

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

90 Meanwhile the patient developed ichthyosis caused by hypothyroidism.

91 An autosomal recessive ichthyosis characterized by collodian membrane at birth

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

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

94 gene at Xp22.31 are associated with X-linked ichthyosis, corneal opacities, testicular maldescent, ca

95 Keratitis ichthyosis deafness (KID) syndrome is caused by point mu

96 ations of Cx26 associated with the keratitis ichthyosis deafness syndrome (N14K, A40V and A88V), in c

97 that cause skin diseases, such as keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectoderm

98 Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreata

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

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

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

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

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

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

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

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

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

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

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

110 3B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome.

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

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

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

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

115 nsive, user-friendly system to assess global ichthyosis disease burden is imperative to improving the

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

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

118 e involved in autosomal-recessive congenital ichthyosis, displayed low activity (1-10%) toward pregne

119 ents with transglutaminase-negative lamellar ichthyosis do not.

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

121 es in certain autosomal recessive congenital ichthyosis epidermis, suggesting the CLE provides a scaf

122 nds the genotypic and phenotypic spectrum of ichthyosis, establishing associations between clinical m

123 NG, PARTICIPANTS: In this qualitative study, ichthyosis experts participated in the content developme

124 We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photoph

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

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

127 is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia.

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

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

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

131 We showed that the ichthyosis genotype and phenotype interact-sometimes ant

132 tion between the microbiome features and the ichthyosis genotype and phenotype while adjusting for co

133 iated with TGM1 variants compared with other ichthyosis genotypes studied.

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

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

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

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

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

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

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

141 The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by l

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

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

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

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

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

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

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

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

150 ative to improving the care of patients with ichthyosis, identifying appropriate participants for cli

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

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

153 patients with autosomal recessive congenital ichthyosis in five consanguineous families with SDR9C7 m

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

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

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

157 Additional murine models of AD and ichthyosis, including tape stripping, K5-Nrf2 overexpres

158 wide spectrum of clinical features including ichthyosis, intellectual disability, decreased fertility

159 Lamellar ichthyosis is a congenital recessive skin disorder chara

160 Harlequin ichthyosis is a congenital scaling syndrome of the skin

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

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

163 Harequin ichthyosis is a severe autosomal recessive ichthyosis of

164 Lamellar ichthyosis is a severe, generalized, autosomal recessive

165 Epidermolytic ichthyosis is a skin fragility disorder caused by domina

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

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

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

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

170 ASPRV1 missense mutations in four unrelated ichthyosis kindreds segregate with disease and disrupt p

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

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

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

174 Ric(EKO) newborns displayed an ichthyosis-like phenotype characterized by dysregulated

175 l skin function, leading to a dry and scaly, ichthyosis-like skin phenotype that is the hallmark of a

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

177 They present with typical ichthyosis linearis circumflexa (NS-ILC) or scaly erythr

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

179 all subtypes (less evident in epidermolytic ichthyosis), lipid metabolism and barrier junction marke

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

181 Regardless of the type of ichthyosis, many patients suffer from itching, recurrent

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

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

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

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

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

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

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

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

190 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n = 5; and Netherton syndrome, n = 3) using

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

192 9; lamellar ichthyosis, n = 8; epidermolytic ichthyosis, n = 8; and Netherton syndrome, n = 4), as we

193 ichthyosiform erythroderma, n = 9; lamellar ichthyosis, n = 8; epidermolytic ichthyosis, n = 8; and

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

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

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

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

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

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

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

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

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

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

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

205 FATP4 (SLC27A4) mutations cause ichthyosis prematurity syndrome, a nonlethal disorder.

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

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

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

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

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

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

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

213 Ichthyosis samples showed increased epidermal hyperplasi

214 rticipated in the content development of the Ichthyosis Scoring System (ISS).

215 le to objectively and systematically measure ichthyosis severity across the entire body.

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

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

218 e ISS is a reliable system to measure global ichthyosis severity in adults and children.

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

220 L-36-targeted therapeutics for patients with ichthyosis similar to those used in patients with psoria

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

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

223 s, facial dysmorphism, congenital cataracts, ichthyosis, spasticity, microcephaly, and mental disabil

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

225 ensive characterization of skin from various ichthyosis subtypes is unavailable, precluding the devel

226 ction in all ichthyoses except epidermolytic ichthyosis, suggesting phenotypic variations.

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

228 throderma in infancy and by erythroderma and ichthyosis thereafter.

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

230 Our findings suggest that the common ichthyosis variants share aberrations in Th17/Th22 and b

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

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

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

234 Ichthyosis vulgaris (IV), characterized by mild scaling

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

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

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

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

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

240 FLG variants underlie ichthyosis vulgaris and increased risk of atopic dermati

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

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

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

244 Palmar hyperlinearity is a feature of ichthyosis vulgaris, the monogenic skin disorder caused

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

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

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

248 the filaggrin-deficient human skin disorder ichthyosis vulgaris.

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

250 henotype that resembles the genetic disorder ichthyosis vulgaris.

251 lity phenotype associated with epidermolytic ichthyosis was observed by the immunofluorescence analys

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

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

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

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

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

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

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

259 5(R820X/R820X) mice develop a lethal, severe ichthyosis with a loss of skin barrier function and dehy

260 Ichthyosis with confetti (IWC) is a genodermatosis cause

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

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

263 Ichthyosis with confetti is a rare, autosomal dominant d

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

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

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

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

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

269 is a hallmark of atopic dermatitis (AD) and ichthyosis, with variable consequences for host immune c

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

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

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

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