Abstract:
BACKGROUND:NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI). The physiological role of NIPAL4 and the pathogenetic mechanisms of ARCI caused by NIPAL4 mutations remain unclear. OBJECTIVE:To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4. METHODS:We performed ultrastructural and immunohistochemical analyses of the skin. We used RNA sequencing to determine the mRNA expression in the skin of the patient and healthy individuals. We investigated ceramide components using tape stripped SC samples from the patient. RESULTS:mRNA expression profiling in the patient's skin showed significant upregulation of IL-17/TNFα-related genes (IL17C, IL36A, IL36G, S100A7A, S100A9) and psoriasis hallmark genes (VNN3, LCE3D, PLA2G4D), and significant downregulation of lipid-associated genes (GAL, HAO2, FABP7). Ceramide analysis in the patient's SC revealed amounts of CER[NS] with carbon chain-length (C) 32-52 were increased, while amounts of most acylceramide with C66:2 - C72:2 were reduced relatively to those in healthy individuals. After the retinoid treatment, CER[NS] with carbon chains C46-54, CER[EOH] and CER[EOP] increased. CONCLUSION:IL-17C and IL-36 family cytokines might be involved in the pathogenetic process of ARCI with NIPAL4 mutations. Reduced amounts of the acylceramides in the SC are associated with the skin phenotype due to NIPAL4 mutations. Efficacy of the oral retinoid treatment might be due to restored amounts of CER[EOH] and CER[EOP] in the SC.
journal_name
J Dermatol Scijournal_title
Journal of dermatological scienceauthors
Murase Y,Takeichi T,Kawamoto A,Tanahashi K,Okuno Y,Takama H,Shimizu E,Ishikawa J,Ogi T,Akiyama Mdoi
10.1016/j.jdermsci.2019.12.001subject
Has Abstractpub_date
2020-01-01 00:00:00pages
50-56issue
1eissn
0923-1811issn
1873-569Xpii
S0923-1811(19)30369-Xjournal_volume
97pub_type
杂志文章abstract:BACKGROUND:Using JAK inhibitors to inhibit cytokine signaling is presumed to be a possible means of treating skin inflammatory disorders such as contact dermatitis. OBJECTIVE:To clarify the action site of JAK inhibitors in skin inflammatory disorders. METHODS:We analyzed the mechanism of action of the JAK inhibitor J...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2016.09.007
更新日期:2016-12-01 00:00:00
abstract::Hair follicle morphogenesis and regeneration depend on intensive but well-orchestrated interactions between epithelial and mesenchymal components. Accordingly, the enhancement of this crosstalk represents a promising approach to achieve successful bioengineering of human hair follicles. The present article summarizes ...
journal_title:Journal of dermatological science
pub_type: 杂志文章,评审
doi:10.1016/j.jdermsci.2013.02.004
更新日期:2013-05-01 00:00:00
abstract:BACKGROUND:Psoriasis is a systemic inflammatory disease with dramatic responses to TNF-α inhibitors. TNF-α is mainly produced by macrophages. However, how macrophage polarization contributes to psoriasis remains unknown. OBJECTIVE:We aimed to investigate the molecular mechanisms of macrophage polarization in psoriasis...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2018.05.009
更新日期:2018-09-01 00:00:00
abstract:BACKGROUND:Autophagy is a highly conserved cellular catabolic pathway for degradation and recycling of intracellular components in response to nutrient starvation or environmental stress. Endoplasmic reticulum (ER) homeostasis can be disturbed by physiological and pathological influences, resulting in accumulation of m...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.04.011
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Dry skin causes pruritus and discomfort in patients with xerosis and atopic dermatitis. General treatment for skin dryness involves the topical application of an emollient. However, more effective, simpler therapies are desired. Collagen tripeptide (CTP) is a highly purified, non-antigenic, low-allergenic co...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2012.02.004
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:The basic function of epithelia is to provide a boundary between tissue and its external environment, and is achieved by a wide variety of components including extracellular molecules. Multiple monoclonal antibodies raised against epithelial antigens have helped identify a range of distinct, novel protein ep...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2005.11.005
更新日期:2006-04-01 00:00:00
abstract::Tumor necrosis factor-alpha (TNF-alpha) has been demonstrated to selectively decrease the production of type I and type III collagens in human dermal fibroblasts. The effects of the commonly used food antioxidants, butylated hydroxyanisole (BHA), butylated hydroxytoluene (BHT), alpha-tocopherol, propyl gallate, supero...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(95)00463-7
更新日期:1996-04-01 00:00:00
abstract:BACKGROUND:The transcription factor Sox9 is pivotal in the morphogenesis of hair follicles, but its role in sebocytes is poorly understood. OBJECTIVE:We investigated the effect of Sox9 on human sebocyte proliferation, differentiation and lipogenesis. METHODS:Sox9 expression was detected by immunohistochemistry in nor...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2016.10.005
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Systemic sclerosis (SSc) is a chronic autoimmune disease characterized by inflammation and fibrosis. Our previous research has indicated that Sirtuin1 (Sirt1) plays a role in the regulation of TNF-α-induced inflammation; however, whether Sirt1 may inhibit the progress of SSc by blocking inflammation remains ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.04.013
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Hyperpigmentation is aesthetic undesirable. Sesamol and the standard antimelanogenic agent (kojic acid) were shown to hinder melanogenesis by blocking tyrosinase and reducing melanin content. OBJECTIVE:The FTIR microspectroscopy was used in an attempt to find a novel method to define biological alternation ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2013.11.002
更新日期:2014-03-01 00:00:00
abstract::Members of the transforming growth factor-beta (TGF-beta) superfamily are pleiotropic cytokines that have the ability to regulate numerous cell functions, including proliferation, differentiation, apoptosis, epithelial-mesenchymal transition, and production of extracellular matrix, allowing them to play an important r...
journal_title:Journal of dermatological science
pub_type: 杂志文章,评审
doi:10.1016/j.jdermsci.2003.12.006
更新日期:2004-08-01 00:00:00
abstract::Skin sulfhydryl oxidase (SOx) is an enzyme that catalyzes disulfide (S-S) cross-linking through the oxidation of sulfhydryl compounds in the skin. In this study, using the enzyme purified from rat seminal vesicle, we obtained peptide sequences for SOx by mass spectrometry. We then searched for SOx nucleotides correspo...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(02)00061-0
更新日期:2002-10-01 00:00:00
abstract::It has been reported that various anti-psoriatic agents augment the beta-adrenergic adenylate cyclase response that is defective in the psoriatic hyperproliferative epidermis. Recent evidence indicates that cyclosporin A (CsA) and FK506 show beneficial effects on psoriasis. Using fetal rat keratinizing epidermal cells...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(93)90044-p
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Evidence suggests anti-inflammatory effects of glucosamine (GS) on inflammatory diseases. COX-2 is an enzyme to produce prostaglandins. MMPs are the family of matrix metalloproteinases degradable of ECM. Excess expression of COX-2 or MMPs involves in skin inflammation. OBJECTIVE:We evaluated whether GS-HCl ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2009.06.017
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:As interest in skin beauty increases, the development of new skin whitening agents has attracted substantial attention; however, the action mechanism of the agents developed so far remains largely unknown. Tranexamic acid (TXA) is commonly being used to reduce melanin synthesis in patients with melasma and a...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.05.019
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND:Several studies have suggested that habitual yogurt consumption is associated with favorable outcomes for health issues in children. However, the effects of yogurt consumption on allergic diseases and sensitization in children remain poorly understood. OBJECTIVE:This prospective birth cohort study aimed to ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.01.006
更新日期:2017-05-01 00:00:00
abstract::Serum levels of sIL-2R can be used to monitor in vivo immune activation and its elevation have been shown to be correlated with T cell mediated immune disease such as atopic dermatitis, psoriasis, lymphoma and systemic sclerosis. Vitiligo is the disease of depigmentation caused by destruction of melanocytes, and there...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(98)00070-x
更新日期:1999-04-01 00:00:00
abstract::Telomeres, which exist in eukaryotic chromosome ends in specialized G-rich TTAGGG structure, protect the ends from degradation or fusion. On the other hand, telomerase is a ribonucleoprotein complex enzyme that synthesizes TTAGGG repeat sequences at the ends of eukaryotic chromosomes. Previous studies suggested that t...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(99)00049-3
更新日期:2000-02-01 00:00:00
abstract:BACKGROUND:Strategies combining anti-vascular therapy and vascular imaging may facilitate the prediction of early response and outcome in cancer treatment. OBJECTIVE:The aim of this study was to investigate the relationship between the tumor-associated vasculature in melanoma and to develop an approach for melanoma tr...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2015.08.005
更新日期:2015-11-01 00:00:00
abstract:BACKGROUND:The analysis of prognostic factors in Japanese cases of cutaneous T-cell lymphoma (CTCL) is scarce. Clusterin is a ubiquitous 80kDa heterodimeric glycoprotein expressed on tumor cells of systemic and primary cutaneous anaplastic large cell lymphoma. The expression of clusterin in mycosis fungoides (MF) and S...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2013.04.020
更新日期:2013-09-01 00:00:00
abstract::Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency with angiokeratoma corporis diffusum (AKCD) is one of the lysosomal storage diseases. GalNAc(alpha))1-O-Ser/Thr (Tn) is theoretically deposited in lysosomes, but substances with attached galactose and neuraminic (sialic) acid (T and sialosyl Tn, respectively) are...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(02)00005-1
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:It is well known that cyclophosphamide (Cy) treatment before sensitization paradoxically enhances rather than suppresses contact hypersensitivity (CH) reactions. In fact, Cy-treated mice developed a significant (p < 0.05) increase of the CH reactions to 2,4,6-trinitro-1-chrolobenzene (TNCB) in comparison wit...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2005.02.002
更新日期:2005-08-01 00:00:00
abstract::Rhenwald and Green's technique is currently the standard method for growing stratifying epidermal cell cultures. The serum free system developed in Ham's laboratory (MCDB 153) was designed to grow keratinocyte monolayers in clonogenic conditions. Our aim was to optimize conditions in serum-free MCDB 153 for culturing ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(92)90044-c
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:Repeated exposure to ultraviolet (UV) rays damages skin connective tissue, which is thought to be associated with wrinkle formation. We hypothesized that repeated mild inflammation may cause the connective tissue alterations in photoaging. OBJECTIVE:To clarify the behavior of neutrophils and neutrophil elas...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2010.09.001
更新日期:2010-12-01 00:00:00
abstract::In order to disclose the possible disturbance in regulation of p21ras function in neurofibromatosis type 1, we investigated the recovery from the quiescent to cycling states of the cell cycle in the skin fibroblasts of the patients. When cells cultured in serum-dependent medium are deprived of the serum, these go into...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(94)90082-5
更新日期:1994-04-01 00:00:00
abstract::An immunoperoxidase technique was performed to detect keratinolytic proteinase (KPase) in sections of the skin taken from guinea pigs infected with Microsporum canis and in cultured M. canis using polyclonal antisera to purified KPase. Of tissue samples from guinea pigs infected with M. canis, all sections of erythema...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(90)90015-6
更新日期:1990-11-01 00:00:00
abstract::Hair follicles reconstitute themselves though the hair cycle, suggesting the presence of intrinsic stem cells. In contrast to the previous belief that stem cells reside in the bulbar region of hair follicles, stem cells were detected in the bulge area, a contiguous part of outer root sheath, that provides the insertio...
journal_title:Journal of dermatological science
pub_type: 杂志文章,评审
doi:10.1016/j.jdermsci.2006.12.002
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:We recently reported use of photodynamic therapy (PDT) for treating keloid disease (KD). However, in view of high recurrence rates post any treatment modality, adjuvant therapies should be considered. Additionally, we previously demonstrated the effect of a novel electrical waveform, the degenerate wave (DW)...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2011.08.012
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Tyrosinase, the rate-limiting enzyme required for melanin production, has been targeted to develop active brightening/lightening materials for skin products. Unexpected depigmentation of the skin characterized with the diverse symptoms was reported in some subjects who used a tyrosinase-competitive inhibitin...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2014.07.001
更新日期:2014-10-01 00:00:00
abstract::Citrulline residues are detected in keratins and filaggrin in the cornified layers of mammalian epidermis. Such citrulline residues are formed by the enzymatic deimination of arginine residues by peptidylarginine deiminases (EC 3.5.3.15). Major deiminated keratins are derived from keratin K1. Two arginine residues ide...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(99)00026-2
更新日期:1999-09-01 00:00:00