지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 1,307 - 1,318 (12page)
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초록· 키워드
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X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.
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참고문헌 (40)
참고문헌 신청
Shwayder T / 1999 / Ichthyosis in a nutshell / Pediatr Rev 20:5~12
Cañueto J / 2010 / Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis : a high frequency of partial deletions in a Spanish population / J Eur Acad Dermatol Venereol 24:1226~1229
Sugawara T / 2006 / Both N-terminal and C-terminal regions of steroid sulfatase are important for enzyme activity / J Endocrinol 188:365~374
Pehlke JR / 2013 / X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms / Fortschr Neurol Psychiatr 81:40~43
Macsai MS / 1994 / Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis / Am J Ophthalmol 118:477~484
Cañueto J / 2010 / Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis : a high frequency of partial deletions in a Spanish population / J Eur Acad Dermatol Venereol 24:1226~1229
Sugawara T / 2006 / Both N-terminal and C-terminal regions of steroid sulfatase are important for enzyme activity / J Endocrinol 188:365~374
Pehlke JR / 2013 / X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms / Fortschr Neurol Psychiatr 81:40~43
Macsai MS / 1994 / Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis / Am J Ophthalmol 118:477~484
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